Canonical Allele Identifier: CA017535
Gene: MSH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47429881_47429884dup , CM000664.2:g.47429881_47429884dup GRCh38
NC_000002.11:g.47657020_47657023dup , CM000664.1:g.47657020_47657023dup GRCh37
NC_000002.10:g.47510524_47510527dup NCBI36
NG_007110.2:g.31758_31761dup , LRG_218:g.31758_31761dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000644900.2:c.1216_1219dup ENSP00000495641.2:p.Leu407ProfsTer11
ENST00000233146.7:c.1216_1219dup MANE Select ENSP00000233146.2:p.Leu407ProfsTer11
ENST00000543555.6:c.1018_1021dup ENSP00000442697.1:p.Leu341ProfsTer11
ENST00000644092.1:c.1216_1219dup ENSP00000496351.1:p.Leu407ProfsTer11
ENST00000645339.1:c.1216_1219dup ENSP00000496441.1:p.Leu407ProfsTer11
ENST00000645506.1:c.1216_1219dup ENSP00000495455.1:p.Leu407ProfsTer11
ENST00000646415.1:c.1216_1219dup ENSP00000495543.1:p.Leu407ProfsTer11
ENST00000233146.6:c.1216_1219dup ENSP00000233146.2:p.Leu407ProfsTer11
ENST00000406134.5:c.1216_1219dup ENSP00000384199.1:p.Leu407ProfsTer11
ENST00000543555.5:c.1018_1021dup ENSP00000442697.1:p.Leu341ProfsTer11
ENST00000610696.4:c.1216_1219dup ENSP00000483159.1:p.Leu407ProfsTer11
ENST00000613514.4:c.1216_1219dup ENSP00000484137.1:p.Leu407ProfsTer11
ENST00000617333.3:c.1215_1218dup ENSP00000482468.1:p.Ser407ArgfsTer?
ENST00000617938.4:c.*188_*191dup ENSP00000481158.1:n.*188_*191dup
ENST00000621359.2:c.1216_1219dup ENSP00000481416.1:p.Leu407ProfsTer11
NM_000251.2:c.1216_1219dup , LRG_218t1:c.1216_1219dup NP_000242.1:p.Leu407ProfsTer11
NM_001258281.1:c.1018_1021dup NP_001245210.1:p.Leu341ProfsTer11
XM_005264332.2:c.1216_1219dup XP_005264389.2:p.Leu407ProfsTer11
XM_011532867.1:c.1216_1219dup XP_011531169.1:p.Leu407ProfsTer11
XR_939685.1:n.1288_1291dup
XM_005264332.4:c.1216_1219dup XP_005264389.2:p.Leu407ProfsTer11
XM_011532867.2:c.1216_1219dup XP_011531169.1:p.Leu407ProfsTer11
XR_001738747.2:n.1278_1281dup
XR_939685.2:n.1278_1281dup
NM_000251.3:c.1216_1219dup MANE Select NP_000242.1:p.Leu407ProfsTer11