Canonical Allele Identifier: CA2495872527
Gene: MSH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47475188T= , CM000664.2:g.47475188T= GRCh38
NC_000002.11:g.47702327T= , CM000664.1:g.47702327T= GRCh37
NC_000002.10:g.47555831T= NCBI36
NG_007110.2:g.77065T= , LRG_218:g.77065T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000644900.2:c.1923T= ENSP00000495641.2:p.Cys641=
ENST00000233146.7:c.1923T= MANE Select ENSP00000233146.2:p.Cys641=
ENST00000543555.6:c.1725T= ENSP00000442697.1:p.Cys575=
ENST00000644092.1:c.*223T= ENSP00000496351.1:n.*223T=
ENST00000645339.1:c.1923T= ENSP00000496441.1:p.Cys641=
ENST00000645506.1:c.1923T= ENSP00000495455.1:p.Cys641=
ENST00000646415.1:c.1923T= ENSP00000495543.1:p.Cys641=
ENST00000233146.6:c.1923T= ENSP00000233146.2:p.Cys641=
ENST00000406134.5:c.1923T= ENSP00000384199.1:p.Cys641=
ENST00000543555.5:c.1725T= ENSP00000442697.1:p.Cys575=
ENST00000610696.4:c.*319T= ENSP00000483159.1:n.*319T=
ENST00000613514.4:c.*463T= ENSP00000484137.1:n.*463T=
ENST00000617333.3:c.*689T= ENSP00000482468.1:n.*689T=
ENST00000617938.4:c.*895T= ENSP00000481158.1:n.*895T=
ENST00000621359.2:c.1923T= ENSP00000481416.1:p.Cys641=
NM_000251.2:c.1923T= , LRG_218t1:c.1923T= NP_000242.1:p.Cys641=
NM_001258281.1:c.1725T= NP_001245210.1:p.Cys575=
XM_005264332.2:c.1923T= XP_005264389.2:p.Cys641=
XM_011532867.1:c.1923T= XP_011531169.1:p.Cys641=
XR_939685.1:n.1995T=
XM_005264332.4:c.1923T= XP_005264389.2:p.Cys641=
XM_011532867.2:c.1923T= XP_011531169.1:p.Cys641=
XR_001738747.2:n.1985T=
XR_939685.2:n.1985T=
NM_000251.3:c.1923T= MANE Select NP_000242.1:p.Cys641=