Canonical Allele Identifier: CA2495869960
Gene: MSH2 HGNC NCBI

Linked Data

dbSNP Id: rs1667068168
gnomAD v4: 2-47470898-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47470898A>T , CM000664.2:g.47470898A>T GRCh38
NC_000002.11:g.47698037A>T , CM000664.1:g.47698037A>T GRCh37
NC_000002.10:g.47551541A>T NCBI36
NG_007110.2:g.72775A>T , LRG_218:g.72775A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000644900.2:c.1662-67A>T ENSP00000495641.2:n.1662-67A>T
ENST00000233146.7:c.1662-67A>T MANE Select ENSP00000233146.2:n.1662-67A>T
ENST00000543555.6:c.1464-67A>T ENSP00000442697.1:n.1464-67A>T
ENST00000644092.1:c.1662-90A>T ENSP00000496351.1:n.1662-90A>T
ENST00000645339.1:c.1662-67A>T ENSP00000496441.1:n.1662-67A>T
ENST00000645506.1:c.1662-67A>T ENSP00000495455.1:n.1662-67A>T
ENST00000646415.1:c.1662-67A>T ENSP00000495543.1:n.1662-67A>T
ENST00000233146.6:c.1662-67A>T ENSP00000233146.2:n.1662-67A>T
ENST00000406134.5:c.1662-67A>T ENSP00000384199.1:n.1662-67A>T
ENST00000543555.5:c.1464-67A>T ENSP00000442697.1:n.1464-67A>T
ENST00000610696.4:c.*58-67A>T ENSP00000483159.1:n.*58-67A>T
ENST00000613514.4:c.*202-67A>T ENSP00000484137.1:n.*202-67A>T
ENST00000617333.3:c.*428-67A>T ENSP00000482468.1:n.*428-67A>T
ENST00000617938.4:c.*634-67A>T ENSP00000481158.1:n.*634-67A>T
ENST00000621359.2:c.1662-67A>T ENSP00000481416.1:n.1662-67A>T
NM_000251.2:c.1662-67A>T , LRG_218t1:c.1662-67A>T NP_000242.1:n.1662-67A>T
NM_001258281.1:c.1464-67A>T NP_001245210.1:n.1464-67A>T
XM_005264332.2:c.1662-67A>T XP_005264389.2:n.1662-67A>T
XM_011532867.1:c.1662-67A>T XP_011531169.1:n.1662-67A>T
XR_939685.1:n.1734-67A>T
XM_005264332.4:c.1662-67A>T XP_005264389.2:n.1662-67A>T
XM_011532867.2:c.1662-67A>T XP_011531169.1:n.1662-67A>T
XR_001738747.2:n.1724-67A>T
XR_939685.2:n.1724-67A>T
NM_000251.3:c.1662-67A>T MANE Select NP_000242.1:n.1662-67A>T