Canonical Allele Identifier: CA022518
Gene: MSH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 91241
ClinVar RCV Id: RCV000076746 RCV001854341 RCV002371917 RCV003144124 RCV003452974
dbSNP Id: rs63749915
MyVariant Identifiers: chr2:g.47641516A>T (hg19) chr2:g.47414377A>T (hg38)
PubMed: PMID:15849733 PMID:16216036
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47414377A>T , CM000664.2:g.47414377A>T GRCh38
NC_000002.11:g.47641516A>T , CM000664.1:g.47641516A>T GRCh37
NC_000002.10:g.47495020A>T NCBI36
NG_007110.2:g.16254A>T , LRG_218:g.16254A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000644900.2:c.901A>T ENSP00000495641.2:p.Lys301Ter
ENST00000233146.7:c.901A>T MANE Select ENSP00000233146.2:p.Lys301Ter
ENST00000543555.6:c.703A>T ENSP00000442697.1:p.Lys235Ter
ENST00000644092.1:c.901A>T ENSP00000496351.1:p.Lys301Ter
ENST00000645339.1:c.901A>T ENSP00000496441.1:p.Lys301Ter
ENST00000645506.1:c.901A>T ENSP00000495455.1:p.Lys301Ter
ENST00000646415.1:c.901A>T ENSP00000495543.1:p.Lys301Ter
ENST00000233146.6:c.901A>T ENSP00000233146.2:p.Lys301Ter
ENST00000406134.5:c.901A>T ENSP00000384199.1:p.Lys301Ter
ENST00000543555.5:c.703A>T ENSP00000442697.1:p.Lys235Ter
ENST00000610696.4:c.901A>T ENSP00000483159.1:p.Lys301Ter
ENST00000613514.4:c.901A>T ENSP00000484137.1:p.Lys301Ter
ENST00000617333.3:c.901A>T ENSP00000482468.1:p.Lys301Ter
ENST00000617938.4:c.901A>T ENSP00000481158.1:p.Lys301Ter
ENST00000621359.2:c.901A>T ENSP00000481416.1:p.Lys301Ter
NM_000251.2:c.901A>T , LRG_218t1:c.901A>T NP_000242.1:p.Lys301Ter
NM_001258281.1:c.703A>T NP_001245210.1:p.Lys235Ter
XM_005264332.2:c.901A>T XP_005264389.2:p.Lys301Ter
XM_011532867.1:c.901A>T XP_011531169.1:p.Lys301Ter
XR_939685.1:n.973A>T
XM_005264332.4:c.901A>T XP_005264389.2:p.Lys301Ter
XM_011532867.2:c.901A>T XP_011531169.1:p.Lys301Ter
XR_001738747.2:n.963A>T
XR_939685.2:n.963A>T
NM_000251.3:c.901A>T MANE Select NP_000242.1:p.Lys301Ter
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