Canonical Allele Identifier: CA2495826725
Gene: MSH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47403380_47403381delinsGA , CM000664.2:g.47403380_47403381delinsGA GRCh38
NC_000002.11:g.47630519_47630520delinsGA , CM000664.1:g.47630519_47630520delinsGA GRCh37
NC_000002.10:g.47484023_47484024delinsGA NCBI36
NG_007110.2:g.5257_5258delinsGA , LRG_218:g.5257_5258delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000644900.2:c.189_190delinsGA ENSP00000495641.2:p.Val63=
ENST00000233146.7:c.189_190delinsGA MANE Select ENSP00000233146.2:p.Val63=
ENST00000543555.6:c.-10_-9delinsGA ENSP00000442697.1:n.-10_-9delinsGA
ENST00000644092.1:c.189_190delinsGA ENSP00000496351.1:p.Val63=
ENST00000645339.1:c.189_190delinsGA ENSP00000496441.1:p.Val63=
ENST00000645506.1:c.189_190delinsGA ENSP00000495455.1:p.Val63=
ENST00000646415.1:c.189_190delinsGA ENSP00000495543.1:p.Val63=
ENST00000233146.6:c.189_190delinsGA ENSP00000233146.2:p.Val63=
ENST00000406134.5:c.189_190delinsGA ENSP00000384199.1:p.Val63=
ENST00000454849.5:c.-10_-9delinsGA ENSP00000411482.1:n.-10_-9delinsGA
ENST00000543555.5:c.-10_-9delinsGA ENSP00000442697.1:n.-10_-9delinsGA
ENST00000610696.4:c.189_190delinsGA ENSP00000483159.1:p.Val63=
ENST00000613514.4:c.189_190delinsGA ENSP00000484137.1:p.Val63=
ENST00000617333.3:c.189_190delinsGA ENSP00000482468.1:p.Val63=
ENST00000617938.4:c.189_190delinsGA ENSP00000481158.1:p.Val63=
ENST00000621359.2:c.189_190delinsGA ENSP00000481416.1:p.Val63=
NM_000251.2:c.189_190delinsGA , LRG_218t1:c.189_190delinsGA NP_000242.1:p.Val63=
NM_001258281.1:c.-10_-9delinsGA NP_001245210.1:n.-10_-9delinsGA
XM_005264332.2:c.189_190delinsGA XP_005264389.2:p.Val63=
XM_011532867.1:c.189_190delinsGA XP_011531169.1:p.Val63=
XR_939685.1:n.261_262delinsGA
XM_005264332.4:c.189_190delinsGA XP_005264389.2:p.Val63=
XM_011532867.2:c.189_190delinsGA XP_011531169.1:p.Val63=
XR_001738747.2:n.251_252delinsGA
XR_939685.2:n.251_252delinsGA
NM_000251.3:c.189_190delinsGA MANE Select NP_000242.1:p.Val63=