Canonical Allele Identifier: CA2495865209
Gene: MSH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47463034_47463035delinsGA , CM000664.2:g.47463034_47463035delinsGA GRCh38
NC_000002.11:g.47690173_47690174delinsGA , CM000664.1:g.47690173_47690174delinsGA GRCh37
NC_000002.10:g.47543677_47543678delinsGA NCBI36
NG_007110.2:g.64911_64912delinsGA , LRG_218:g.64911_64912delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000644900.2:c.1390_1391delinsGA ENSP00000495641.2:p.Glu464=
ENST00000233146.7:c.1390_1391delinsGA MANE Select ENSP00000233146.2:p.Glu464=
ENST00000543555.6:c.1192_1193delinsGA ENSP00000442697.1:p.Glu398=
ENST00000644092.1:c.1390_1391delinsGA ENSP00000496351.1:p.Glu464=
ENST00000645339.1:c.1390_1391delinsGA ENSP00000496441.1:p.Glu464=
ENST00000645506.1:c.1390_1391delinsGA ENSP00000495455.1:p.Glu464=
ENST00000646415.1:c.1390_1391delinsGA ENSP00000495543.1:p.Glu464=
ENST00000233146.6:c.1390_1391delinsGA ENSP00000233146.2:p.Glu464=
ENST00000406134.5:c.1390_1391delinsGA ENSP00000384199.1:p.Glu464=
ENST00000543555.5:c.1192_1193delinsGA ENSP00000442697.1:p.Glu398=
ENST00000610696.4:c.1390_1391delinsGA ENSP00000483159.1:p.Glu464=
ENST00000613514.4:c.1390_1391delinsGA ENSP00000484137.1:p.Glu464=
ENST00000617333.3:c.*156_*157delinsGA ENSP00000482468.1:n.*156_*157delinsGA
ENST00000617938.4:c.*362_*363delinsGA ENSP00000481158.1:n.*362_*363delinsGA
ENST00000621359.2:c.1390_1391delinsGA ENSP00000481416.1:p.Glu464=
NM_000251.2:c.1390_1391delinsGA , LRG_218t1:c.1390_1391delinsGA NP_000242.1:p.Glu464=
NM_001258281.1:c.1192_1193delinsGA NP_001245210.1:p.Glu398=
XM_005264332.2:c.1390_1391delinsGA XP_005264389.2:p.Glu464=
XM_011532867.1:c.1390_1391delinsGA XP_011531169.1:p.Glu464=
XR_939685.1:n.1462_1463delinsGA
XM_005264332.4:c.1390_1391delinsGA XP_005264389.2:p.Glu464=
XM_011532867.2:c.1390_1391delinsGA XP_011531169.1:p.Glu464=
XR_001738747.2:n.1452_1453delinsGA
XR_939685.2:n.1452_1453delinsGA
NM_000251.3:c.1390_1391delinsGA MANE Select NP_000242.1:p.Glu464=