Canonical Allele Identifier: CA020939

Gene: MSH2

Linked Data

• ClinVar Variation Id: 127639
• ClinVar RCV Id: RCV000583830 ; RCV000759829 ; RCV000469769 ; RCV003997275 ; RCV000662933
• dbSNP Id: rs587779967
• ExAC: 2:47710069 G / A
• gnomAD v2: 2-47710069-G-A
• gnomAD v4: 2-47482930-G-A
• COSMIC: COSM1021253
• MyVariant Identifiers: chr2:g.47710069G>A (hg19) ; chr2:g.47482930G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47482930G>A , CM000664.2:g.47482930G>A	GRCh38
NC_000002.11:g.47710069G>A , CM000664.1:g.47710069G>A	GRCh37
NC_000002.10:g.47563573G>A	NCBI36
NG_007110.2:g.84807G>A , LRG_218:g.84807G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2634+2059G>A	ENSP00000495641.2:n.2634+2059G>A
ENST00000233146.7:c.2786G>A MANE Select	ENSP00000233146.2:p.Arg929Gln
ENST00000543555.6:c.2588G>A	ENSP00000442697.1:p.Arg863Gln
ENST00000644092.1:c.*934+2059G>A	ENSP00000496351.1:n.*934+2059G>A
ENST00000644900.1:c.487+2059G>A
ENST00000645339.1:c.2634+2059G>A	ENSP00000496441.1:n.2634+2059G>A
ENST00000645506.1:c.2634+2059G>A	ENSP00000495455.1:n.2634+2059G>A
ENST00000646415.1:c.2634+2059G>A	ENSP00000495543.1:n.2634+2059G>A
ENST00000233146.6:c.2786G>A	ENSP00000233146.2:p.Arg929Gln
ENST00000406134.5:c.2634+2059G>A	ENSP00000384199.1:n.2634+2059G>A
ENST00000461394.5:n.75+2059G>A
ENST00000543555.5:c.2588G>A	ENSP00000442697.1:p.Arg863Gln
ENST00000610696.4:c.*1182G>A	ENSP00000483159.1:n.*1182G>A
ENST00000613514.4:c.*1326G>A	ENSP00000484137.1:n.*1326G>A
ENST00000617333.3:c.*1552G>A	ENSP00000482468.1:n.*1552G>A
ENST00000617938.4:c.*1758G>A	ENSP00000481158.1:n.*1758G>A
ENST00000621359.2:c.*352G>A	ENSP00000481416.1:n.*352G>A
NM_000251.2:c.2786G>A , LRG_218t1:c.2786G>A	NP_000242.1:p.Arg929Gln
NM_001258281.1:c.2588G>A	NP_001245210.1:p.Arg863Gln
XM_005264332.2:c.2634+2059G>A	XP_005264389.2:n.2634+2059G>A
XM_011532867.1:c.2634+2059G>A	XP_011531169.1:n.2634+2059G>A
XR_939685.1:n.2706+2059G>A
XM_005264332.4:c.2634+2059G>A	XP_005264389.2:n.2634+2059G>A
XM_011532867.2:c.2634+2059G>A	XP_011531169.1:n.2634+2059G>A
XR_001738747.2:n.2696+2059G>A
XR_939685.2:n.2696+2059G>A
NM_000251.3:c.2786G>A MANE Select	NP_000242.1:p.Arg929Gln