Canonical Allele Identifier: CA2495872560
Gene: MSH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47475227C= , CM000664.2:g.47475227C= GRCh38
NC_000002.11:g.47702366C= , CM000664.1:g.47702366C= GRCh37
NC_000002.10:g.47555870C= NCBI36
NG_007110.2:g.77104C= , LRG_218:g.77104C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000644900.2:c.1962C= ENSP00000495641.2:p.Asp654=
ENST00000233146.7:c.1962C= MANE Select ENSP00000233146.2:p.Asp654=
ENST00000543555.6:c.1764C= ENSP00000442697.1:p.Asp588=
ENST00000644092.1:c.*262C= ENSP00000496351.1:n.*262C=
ENST00000645339.1:c.1962C= ENSP00000496441.1:p.Asp654=
ENST00000645506.1:c.1962C= ENSP00000495455.1:p.Asp654=
ENST00000646415.1:c.1962C= ENSP00000495543.1:p.Asp654=
ENST00000233146.6:c.1962C= ENSP00000233146.2:p.Asp654=
ENST00000406134.5:c.1962C= ENSP00000384199.1:p.Asp654=
ENST00000543555.5:c.1764C= ENSP00000442697.1:p.Asp588=
ENST00000610696.4:c.*358C= ENSP00000483159.1:n.*358C=
ENST00000613514.4:c.*502C= ENSP00000484137.1:n.*502C=
ENST00000617333.3:c.*728C= ENSP00000482468.1:n.*728C=
ENST00000617938.4:c.*934C= ENSP00000481158.1:n.*934C=
ENST00000621359.2:c.1962C= ENSP00000481416.1:p.Asp654=
NM_000251.2:c.1962C= , LRG_218t1:c.1962C= NP_000242.1:p.Asp654=
NM_001258281.1:c.1764C= NP_001245210.1:p.Asp588=
XM_005264332.2:c.1962C= XP_005264389.2:p.Asp654=
XM_011532867.1:c.1962C= XP_011531169.1:p.Asp654=
XR_939685.1:n.2034C=
XM_005264332.4:c.1962C= XP_005264389.2:p.Asp654=
XM_011532867.2:c.1962C= XP_011531169.1:p.Asp654=
XR_001738747.2:n.2024C=
XR_939685.2:n.2024C=
NM_000251.3:c.1962C= MANE Select NP_000242.1:p.Asp654=