Canonical Allele Identifier: CA031214

Gene: MSH2

Linked Data

• ClinVar Variation Id: 479851
• ClinVar RCV Id: RCV000562329 ; RCV000696814 ; RCV004000863
• dbSNP Id: rs760619442
• ExAC: 2:47702174 A / C
• gnomAD v2: 2-47702174-A-C
• gnomAD v4: 2-47475035-A-C
• MyVariant Identifiers: chr2:g.47702174A>C (hg19) ; chr2:g.47475035A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47475035A>C , CM000664.2:g.47475035A>C	GRCh38
NC_000002.11:g.47702174A>C , CM000664.1:g.47702174A>C	GRCh37
NC_000002.10:g.47555678A>C	NCBI36
NG_007110.2:g.76912A>C , LRG_218:g.76912A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.1770A>C	ENSP00000495641.2:p.Glu590Asp
ENST00000233146.7:c.1770A>C MANE Select	ENSP00000233146.2:p.Glu590Asp
ENST00000543555.6:c.1572A>C	ENSP00000442697.1:p.Glu524Asp
ENST00000644092.1:c.*70A>C	ENSP00000496351.1:n.*70A>C
ENST00000645339.1:c.1770A>C	ENSP00000496441.1:p.Glu590Asp
ENST00000645506.1:c.1770A>C	ENSP00000495455.1:p.Glu590Asp
ENST00000646415.1:c.1770A>C	ENSP00000495543.1:p.Glu590Asp
ENST00000233146.6:c.1770A>C	ENSP00000233146.2:p.Glu590Asp
ENST00000406134.5:c.1770A>C	ENSP00000384199.1:p.Glu590Asp
ENST00000543555.5:c.1572A>C	ENSP00000442697.1:p.Glu524Asp
ENST00000610696.4:c.*166A>C	ENSP00000483159.1:n.*166A>C
ENST00000613514.4:c.*310A>C	ENSP00000484137.1:n.*310A>C
ENST00000617333.3:c.*536A>C	ENSP00000482468.1:n.*536A>C
ENST00000617938.4:c.*742A>C	ENSP00000481158.1:n.*742A>C
ENST00000621359.2:c.1770A>C	ENSP00000481416.1:p.Glu590Asp
NM_000251.2:c.1770A>C , LRG_218t1:c.1770A>C	NP_000242.1:p.Glu590Asp
NM_001258281.1:c.1572A>C	NP_001245210.1:p.Glu524Asp
XM_005264332.2:c.1770A>C	XP_005264389.2:p.Glu590Asp
XM_011532867.1:c.1770A>C	XP_011531169.1:p.Glu590Asp
XR_939685.1:n.1842A>C
XM_005264332.4:c.1770A>C	XP_005264389.2:p.Glu590Asp
XM_011532867.2:c.1770A>C	XP_011531169.1:p.Glu590Asp
XR_001738747.2:n.1832A>C
XR_939685.2:n.1832A>C
NM_000251.3:c.1770A>C MANE Select	NP_000242.1:p.Glu590Asp