Canonical Allele Identifier: CA022108

Gene: MSH2

Linked Data

• ClinVar Variation Id: 91189
• ClinVar RCV Id: RCV000131412 ; RCV000411200 ; RCV000479306 ; RCV000524419 ; RCV000781566 ; RCV001357533
• dbSNP Id: rs63751455
• ExAC: 2:47639635 G / A
• gnomAD v2: 2-47639635-G-A
• gnomAD v3: 2-47412496-G-A
• gnomAD v4: 2-47412496-G-A
• MyVariant Identifiers: chr2:g.47639635G>A (hg19) ; chr2:g.47412496G>A (hg38)
• PubMed: PMID:16395668 ; PMID:18383312 ; PMID:21311894 ; PMID:26247049 ; PMID:27468915

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47412496G>A , CM000664.2:g.47412496G>A	GRCh38
NC_000002.11:g.47639635G>A , CM000664.1:g.47639635G>A	GRCh37
NC_000002.10:g.47493139G>A	NCBI36
NG_007110.2:g.14373G>A , LRG_218:g.14373G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.728G>A	ENSP00000495641.2:p.Arg243Gln
ENST00000233146.7:c.728G>A MANE Select	ENSP00000233146.2:p.Arg243Gln
ENST00000543555.6:c.530G>A	ENSP00000442697.1:p.Arg177Gln
ENST00000644092.1:c.728G>A	ENSP00000496351.1:p.Arg243Gln
ENST00000645339.1:c.728G>A	ENSP00000496441.1:p.Arg243Gln
ENST00000645506.1:c.728G>A	ENSP00000495455.1:p.Arg243Gln
ENST00000646415.1:c.728G>A	ENSP00000495543.1:p.Arg243Gln
ENST00000233146.6:c.728G>A	ENSP00000233146.2:p.Arg243Gln
ENST00000406134.5:c.728G>A	ENSP00000384199.1:p.Arg243Gln
ENST00000543555.5:c.530G>A	ENSP00000442697.1:p.Arg177Gln
ENST00000610696.4:c.728G>A	ENSP00000483159.1:p.Arg243Gln
ENST00000613514.4:c.728G>A	ENSP00000484137.1:p.Arg243Gln
ENST00000617333.3:c.728G>A	ENSP00000482468.1:p.Arg243Gln
ENST00000617938.4:c.728G>A	ENSP00000481158.1:p.Arg243Gln
ENST00000621359.2:c.728G>A	ENSP00000481416.1:p.Arg243Gln
NM_000251.2:c.728G>A , LRG_218t1:c.728G>A	NP_000242.1:p.Arg243Gln
NM_001258281.1:c.530G>A	NP_001245210.1:p.Arg177Gln
XM_005264332.2:c.728G>A	XP_005264389.2:p.Arg243Gln
XM_011532867.1:c.728G>A	XP_011531169.1:p.Arg243Gln
XR_939685.1:n.800G>A
XM_005264332.4:c.728G>A	XP_005264389.2:p.Arg243Gln
XM_011532867.2:c.728G>A	XP_011531169.1:p.Arg243Gln
XR_001738747.2:n.790G>A
XR_939685.2:n.790G>A
NM_000251.3:c.728G>A MANE Select	NP_000242.1:p.Arg243Gln