Transcript #00000002

Transcript name colon cancer, nonpolyposis type 1 (E. coli), transcript variant 1
Gene name MSH2 (mutS homolog 2)
Chromosome 2
Transcript - NCBI ID NM_000251.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_000242.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

6346 entries on 64 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

Published as     

RNA change     

Protein     

InSiGHT Class     

Splicing/transcript expression     
?/? 7 c.1275A>G - r.(=) p.(=) Class 3 -
?/? 8 c.1284C>G - r.(?) p.(His428Gln) - -
?/? 13 c.2164G>A - r.(?) p.(Val722Ile) - -
?/? 13i c.2210+7G>T - r.spl p.(=) - -
?/? 14 c.2445T>A - r.(?) p.(Tyr815*) - -
?/+ 6i_16_ c.(1076+1_1077-1)_(*279_?)del Deletion of Exon 7-16 r.spl p.? Class 5 -
?/+ 6i_16_ c.(1076+1_1077-1)_(*279_?)del Deletion of Exon 7-16 r.spl p.? Class 5 -
?/+ 6i_16_ c.(1076+1_1077-1)_(*279_?)del Deletion of Exon 7-16 r.spl p.? Class 5 -
?/+ 6i_16_ c.(1076+1_1077-1)_(*279_?)del Deletion of Exon 7-16 r.spl p.? Class 5 -
?/+ 6i_16_ c.(1076+1_1077-1)_(*279_?)del del Ex7_16, =153 kb r.spl p.? Class 5 -
?/+ 7i_16_ c.(1276+1_1277-1)_(*279_?)del Deletion of Exon 8-16 r.spl p.? Class 5 -
?/+ 7i_16_ c.(1276+1_1277-1)_(*279_?)del Deletion of Exon 8-16 r.spl p.? Class 5 -
?/+ 7i_16_ c.(1276+1_1277-1)_(*279_?)del Deletion of Exon 8-16 r.spl p.? Class 5 -
?/+ 7i_16_ c.(1276+1_1277-1)_(*279_?)del Deletion of Exon 8-16 r.spl p.? Class 5 -
?/+ 7i_16_ c.(1276+1_1277-1)_(*279_?)del Deletion of Exon 8-16, =47 kb r.spl p.? Class 5 -
?/+ 7i_16_ c.(1276+1_1277-1)_(*279_?)inv Inversion of Exon 8-16 r.spl p.? Class 5 -
?/+ 7i_16_ c.(1276+1_1277-1)_(*279_?)inv Authors describe this as a paracentric inversion; Breakpoints within intron 7 and 10 MB 3' of MSH2 r.spl p.? Class 5 -
?/+ 7i_16_ c.(1276+1_1277-1)_(*279_?)inv Inversion of Exon 8-16 r.spl p.? Class 5 -
?/+ 8i_16_ c.(1386+1_1387-1)_(*279_?)del Exon 9 to Exon 16 c.1387-?_2805+?del p.Val463_*935del r.spl p.? Class 5 -
?/+ 8i_16_ c.(1386+1_1387-1)_(*279_?)del Deletion of Exon 9-16 r.spl p.? Class 5 -
?/+ 8i_16_ c.(1386+1_1387-1)_(*279_?)del Deletion of Exon 9-16 r.spl p.? Class 5 -
?/+ 8i_16_ c.(1386+1_1387-1)_(*279_?)del Deletion of Exon 9-16 r.spl p.? Class 5 -
?/+ 8i_16_ c.(1386+1_1387-1)_(*279_?)del Deletion of Exon 9-16 r.spl p.? Class 5 -
?/+ 8i_16_ c.(1386+1_1387-1)_(*279_?)del Deletion of Exon 9-16 (>19Kb Deletion) r.spl p.? Class 5 -
?/+ 8i_16_ c.(1386+1_1387-1)_(*279_?)del Deletion of Exon 9-16 r.spl p.? Class 5 -
?/+ 8i_16_ c.(1386+1_1387-1)_(*279_?)del Deletion of Exon 9-16 r.spl p.? Class 5 -
?/+ 10i_16_ c.(1661+1_1662-1)_(*279_?)del c.1662-?_2805+?del (Del ex11-16 (18 Kb)) r.spl p.Lys555_*935del Class 5 -
?/+ 10i_16_ c.(1661+1_1662-1)_(*279_?)del Deletion of Exon 11-16 r.spl p.? Class 5 -
?/+ 10i_16_ c.(1661+1_1662-1)_(*279_?)del Deletion of Exon 11-16 r.spl p.? Class 5 -
?/? 10i_16_ c.(1661+1_1662-1)_(*279_?)dup Duplication of Exon 11-16 r.spl p.? Class 3 -
?/+ 11i_16_ c.(1759+1_1760-1)_(*279_?)del Deletion of Exon 12-16 r.spl p.? Class 5 -
?/+ 11i_16_ c.(1759+1_1760-1)_(*279_?)del Deletion of Exon 12-16 r.spl p.? Class 5 -
+/+ 14i_16_ c.(2458+1_2459-1)_(*279_?)del del ex15-16 r.spl p.? Class 5 -
?/+ 14i_16_ c.(2458+1_2459-1)_(*279_?)del Deletion of Exon 15-16 r.spl p.? Class 5 -
?/+ 14i_16_ c.(2458+1_2459-1)_(*279_?)del Deletion of Exon 15-16 r.spl p.? Class 5 -
?/+ 14i_16_ c.(2458+1_2459-1)_(*279_?)del Deletion of Exon 15-16 r.spl p.? Class 5 -
?/+ 14i_16_ c.(2458+1_2459-1)_(*279_?)del c.2459-?_(*272_?)del r.spl p.? Class 5 -
?/+ 15i_16_ c.(2634+1_2635-1)_(*279_?)del c.2635-?_2805+?del r.spl p.? Class 5 -
?/+ 15i_16_ c.(2634+1_2635-1)_(*279_?)del Exon 16 c.2635-?_2805+?del p.Gln879_*935del r.spl p.? Class 5 -
?/+ 15i_16_ c.(2634+1_2635-1)_(*279_?)del Exon 16 c.2635-?_2805+?del p.Gln879_*935del r.spl p.? Class 5 -
?/+ 15i_16_ c.(2634+1_2635-1)_(*279_?)del Exon 16 c.2635-?_2805+?del p.Gln879_*935del r.spl p.? Class 5 -
?/+ 15i_16_ c.(2634+1_2635-1)_(*279_?)del Deletion of Exon 16, =3.5 kb r.spl p.? Class 5 -
?/+ 15i_16_ c.(2634+1_2635-1)_(*279_?)del Deletion of Exon 16, Authors describe this as c.2635+?_(*3084)del. r.spl p.? Class 5 -
?/+ 3i_16_ c.(645+1_646-1)_(*279_?)del Deletion of Exon 4-16 r.spl p.? Class 5 -
?/+ 3i_16_ c.(645+1_646-1)_(*279_?)del Deletion of Exon 4-16 r.spl p.? Class 5 -
?/+ 3i_16_ c.(645+1_646-1)_(*279_?)del Deletion of Exon 4-16 r.spl p.? Class 5 -
?/+ _1_16_ c.(?_-125)_(*279_?)del Deletion of Exon 1-16 r.0? p.0? Class 5 -
?/+ _1_16_ c.(?_-125)_(*279_?)del Deletion of Exon 1-16 r.0? p.0? Class 5 -
?/+ _1_16_ c.(?_-125)_(*279_?)del Deletion of Exon 1-16 r.0? p.0? Class 5 -
?/+ _1_16_ c.(?_-125)_(*279_?)del Deletion of Exon 1-16 r.0? p.0? Class 5 -
?/+ _1_16_ c.(?_-125)_(*279_?)del Deletion of Exon 1-16 r.0? p.0? Class 5 -
?/+ _1_16_ c.(?_-125)_(*279_?)del Deletion of Exon 1-16 r.0? p.0? Class 5 -
+/+ _1_16_ c.(?_-125)_(*279_?)del - r.0? p.0? Class 5 -
+/+ _1_16_ c.(?_-125)_(*279_?)del - r.0? p.0? Class 5 -
?/+ _1_16_ c.(?_-125)_(*279_?)del deletion EPCAM exon 3 (c.185-?) to MSH2 exon 16 (*272_?) r.0? p.0? Class 5 -
?/+ _1_16_ c.(?_-125)_(*279_?)del Deletion exons 1-16 r.0? p.0? Class 5 -
?/+ _1_16_ c.(?_-125)_(*279_?)del c.(?_-68)_(*272_?)del r.0? p.0? Class 5 -
?/+ _1_16_ c.(?_-125)_(*279_?)del c.(?_-68)_(*272_?)del r.0? p.0? Class 5 -
?/+ _1_16_ c.(?_-125)_(*279_?)del Exon 1 to Exon 16 c.1-?_2805+?del p.Met1_*935del r.0? p.0? Class 5 -
?/+ _1_16_ c.(?_-125)_(*279_?)del Exon 1 to Exon 16 c.1-?_2805+?del p.Met1_*935del r.0? p.0? Class 5 -
?/+ _1_16_ c.(?_-125)_(*279_?)del Exon 1 to Exon 16 c.1-?_2805+?del p.Met1_*935del r.0? p.0? Class 5 -
?/+ _1_16_ c.(?_-125)_(*279_?)del del ex 1_16, >80kb r.0? p.0? Class 5 -
?/+ _1_16_ c.(?_-125)_(*279_?)del del 1_16 r.0? p.0? Class 5 -
?/+ _1_16_ c.(?_-125)_(*279_?)del del MSH2 ex1_16, delTACSTD1-15,-27, del MSH6 r.0? p.0? Class 5 -
?/+ _1_16_ c.(?_-125)_(*279_?)del del 1_16 r.0? p.0? Class 5 -
+/+ _1_16_ c.(?_-125)_(*279_?)del del ex01-16 r.0? p.0? Class 5 -
+/+ _1_16_ c.(?_-125)_(*279_?)del del ex01-16 r.0? p.0? Class 5 -
+/+ _1_16_ c.(?_-125)_(*279_?)del del ex01-16 r.0? p.0? Class 5 -
?/+ _1_16_ c.(?_-125)_(*279_?)del Deletion of Exon 1-16 r.0? p.0? Class 5 -
?/+ _1_16_ c.(?_-125)_(*279_?)del Deletion of Exon 1-16 r.0? p.0? Class 5 -
?/+ _1_16_ c.(?_-125)_(*279_?)del Deletion of Exon 1-16 r.0? p.0? Class 5 -
?/+ _1_16_ c.(?_-125)_(*279_?)del Deletion of Exon 1-16; Identified in CCRF± HSB-2 cell line r.0? p.0? Class 5 -
?/+ _1_6i c.(?_-125)_(1076+1_1077-1)del del ex1_6, >25 kb r.0? p.0? Class 5 -
+/+ _1_6i c.(?_-125)_(1076+1_1077-1)del del ex01-06 r.0? p.0? Class 5 -
+/+ _1_6i c.(?_-125)_(1076+1_1077-1)del del ex01-06 r.0? p.0? Class 5 -
+/+ _1_6i c.(?_-125)_(1076+1_1077-1)del del ex01-06 r.0? p.0? Class 5 -
+/+ _1_6i c.(?_-125)_(1076+1_1077-1)del - r.0? p.0? Class 5 -
+/+ _1_6i c.(?_-125)_(1076+1_1077-1)del del ex01-06 r.0? p.0? Class 5 -
+/+ _1_6i c.(?_-125)_(1076+1_1077-1)del - r.0? p.0? Class 5 -
+/+ _1_6i c.(?_-125)_(1076+1_1077-1)del ex01_ex06del r.0? p.0? Class 5 -
+/+ _1_6i c.(?_-125)_(1076+1_1077-1)del - r.0? p.0? Class 5 -
+/+ _1_6i c.(?_-125)_(1076+1_1077-1)del ex1-6del r.0? p.0? Class 5 -
+/+ _1_6i c.(?_-125)_(1076+1_1077-1)del - r.0? p.0? Class 5 -
?/+ _1_6i c.(?_-125)_(1076+1_1077-1)del c.(?_-68)_1076+?del r.0? p.0? Class 5 -
?/+ _1_6i c.(?_-125)_(1076+1_1077-1)del c.(?_-68)_1076+?del r.0? p.0? Class 5 -
?/+ _1_6i c.(?_-125)_(1076+1_1077-1)del Exon 1 to Exon 6 c.1-?_1076+?del p.Met1Ilefs*29 (reported as p.Met1?) r.0? p.0? Class 5 -
?/+ _1_6i c.(?_-125)_(1076+1_1077-1)del Exon 1 to Exon 6 c.1-?_1076+?del p.Met1Ilefs*29 (reported as p.Met1?) r.0? p.0? Class 5 -
?/+ _1_6i c.(?_-125)_(1076+1_1077-1)del Exon 1 to Exon 6 c.1-?_1076+?del p.Met1Ilefs*29 (reported as p.Met1?) r.0? p.0? Class 5 -
?/+ _1_6i c.(?_-125)_(1076+1_1077-1)del Exon 1 to Exon 6 c.1-?_1076+?del p.Met1Ilefs*29 (reported as p.Met1?) r.0? p.0? Class 5 -
?/+ _1_6i c.(?_-125)_(1076+1_1077-1)del Exon 1 to Exon 6 c.1-?_1076+?del p.Met1Ilefs*29 (reported as p.Met1?) r.0? p.0? Class 5 -
?/+ _1_6i c.(?_-125)_(1076+1_1077-1)del MSH2:c.1-?_1076+?del r.0? p.0? Class 5 -
?/+ _1_6i c.(?_-125)_(1076+1_1077-1)del MSH2:c.1-?_1076+?del r.0? p.0? Class 5 -
?/+ _1_6i c.(?_-125)_(1076+1_1077-1)del MSH2:c.1-?_1076+?del r.0? p.0? Class 5 -
?/+ _1_6i c.(?_-125)_(1076+1_1077-1)del deletion exon 1-6 r.0? p.0? Class 5 -
?/+ _1_6i c.(?_-125)_(1076+1_1077-1)del deletion EPCAM exon 9 (c.904-?) to MSH2 exon 6 (c.1076+?) r.0? p.0? Class 5 -
+/+ _1_6i c.(?_-125)_(1076+1_1077-1)del - r.0? p.0? Class 5 -
+/+ _1_6i c.(?_-125)_(1076+1_1077-1)del - r.0? p.0? Class 5 -
+/+ _1_6i c.(?_-125)_(1076+1_1077-1)del - r.0? p.0? Class 5 -
+/+ _1_6i c.(?_-125)_(1076+1_1077-1)del c.(?_-68)_1076+?del r.0? p.0? Class 5 -
?/+ _1_6i c.(?_-125)_(1076+1_1077-1)del - r.0? p.0? Class 5 -
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