Canonical Allele Identifier: CA021206

Gene: MSH2

Linked Data

• ClinVar Variation Id: 91107
• ClinVar RCV Id: RCV000076610 ; RCV000492044 ; RCV003593902
• dbSNP Id: rs63750214
• MyVariant Identifiers: chr2:g.47637354T>A (hg19) ; chr2:g.47410215T>A (hg38)
• PubMed: PMID:2210261 ; PMID:11857745 ; PMID:12200596 ; PMID:17101317 ; PMID:17192056 ; PMID:17312306 ; PMID:18383312 ; PMID:18521850 ; PMID:18561205 ; PMID:22949387 ; PMID:24114314 ; PMID:24362816 ; PMID:24501230

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47410215T>A , CM000664.2:g.47410215T>A	GRCh38
NC_000002.11:g.47637354T>A , CM000664.1:g.47637354T>A	GRCh37
NC_000002.10:g.47490858T>A	NCBI36
NG_007110.2:g.12092T>A , LRG_218:g.12092T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.488T>A	ENSP00000495641.2:p.Val163Asp
ENST00000233146.7:c.488T>A MANE Select	ENSP00000233146.2:p.Val163Asp
ENST00000543555.6:c.290T>A	ENSP00000442697.1:p.Val97Asp
ENST00000644092.1:c.488T>A	ENSP00000496351.1:p.Val163Asp
ENST00000645339.1:c.488T>A	ENSP00000496441.1:p.Val163Asp
ENST00000645506.1:c.488T>A	ENSP00000495455.1:p.Val163Asp
ENST00000646415.1:c.488T>A	ENSP00000495543.1:p.Val163Asp
ENST00000233146.6:c.488T>A	ENSP00000233146.2:p.Val163Asp
ENST00000406134.5:c.488T>A	ENSP00000384199.1:p.Val163Asp
ENST00000454849.5:c.290T>A	ENSP00000411482.1:p.Val97Asp
ENST00000543555.5:c.290T>A	ENSP00000442697.1:p.Val97Asp
ENST00000610696.4:c.488T>A	ENSP00000483159.1:p.Val163Asp
ENST00000613514.4:c.488T>A	ENSP00000484137.1:p.Val163Asp
ENST00000617333.3:c.488T>A	ENSP00000482468.1:p.Val163Asp
ENST00000617938.4:c.488T>A	ENSP00000481158.1:p.Val163Asp
ENST00000621359.2:c.488T>A	ENSP00000481416.1:p.Val163Asp
NM_000251.2:c.488T>A , LRG_218t1:c.488T>A	NP_000242.1:p.Val163Asp
NM_001258281.1:c.290T>A	NP_001245210.1:p.Val97Asp
XM_005264332.2:c.488T>A	XP_005264389.2:p.Val163Asp
XM_011532867.1:c.488T>A	XP_011531169.1:p.Val163Asp
XR_939685.1:n.560T>A
XM_005264332.4:c.488T>A	XP_005264389.2:p.Val163Asp
XM_011532867.2:c.488T>A	XP_011531169.1:p.Val163Asp
XR_001738747.2:n.550T>A
XR_939685.2:n.550T>A
NM_000251.3:c.488T>A MANE Select	NP_000242.1:p.Val163Asp