Canonical Allele Identifier: CA021643

Gene: MSH2

Linked Data

• ClinVar Variation Id: 91155
• ClinVar RCV Id: RCV000076659 ; RCV000491616 ; RCV000985815 ; RCV001854335
• dbSNP Id: rs267607689
• gnomAD v4: 2-47410373-G-A
• COSMIC: COSM330654
• MyVariant Identifiers: chr2:g.47637512G>A (hg19) ; chr2:g.47410373G>A (hg38)
• PubMed: PMID:12373605 ; PMID:16884359 ; PMID:19698169 ; PMID:22949379

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47410373G>A , CM000664.2:g.47410373G>A	GRCh38
NC_000002.11:g.47637512G>A , CM000664.1:g.47637512G>A	GRCh37
NC_000002.10:g.47491016G>A	NCBI36
NG_007110.2:g.12250G>A , LRG_218:g.12250G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.645+1G>A	ENSP00000495641.2:n.645+1G>A
ENST00000233146.7:c.645+1G>A MANE Select	ENSP00000233146.2:n.645+1G>A
ENST00000543555.6:c.447+1G>A	ENSP00000442697.1:n.447+1G>A
ENST00000644092.1:c.645+1G>A	ENSP00000496351.1:n.645+1G>A
ENST00000645339.1:c.645+1G>A	ENSP00000496441.1:n.645+1G>A
ENST00000645506.1:c.645+1G>A	ENSP00000495455.1:n.645+1G>A
ENST00000646415.1:c.645+1G>A	ENSP00000495543.1:n.645+1G>A
ENST00000233146.6:c.645+1G>A	ENSP00000233146.2:n.645+1G>A
ENST00000406134.5:c.645+1G>A	ENSP00000384199.1:n.645+1G>A
ENST00000543555.5:c.447+1G>A	ENSP00000442697.1:n.447+1G>A
ENST00000610696.4:c.645+1G>A	ENSP00000483159.1:n.645+1G>A
ENST00000613514.4:c.645+1G>A	ENSP00000484137.1:n.645+1G>A
ENST00000617333.3:c.645+1G>A	ENSP00000482468.1:n.645+1G>A
ENST00000617938.4:c.645+1G>A	ENSP00000481158.1:n.645+1G>A
ENST00000621359.2:c.645+1G>A	ENSP00000481416.1:n.645+1G>A
NM_000251.2:c.645+1G>A , LRG_218t1:c.645+1G>A	NP_000242.1:n.645+1G>A
NM_001258281.1:c.447+1G>A	NP_001245210.1:n.447+1G>A
XM_005264332.2:c.645+1G>A	XP_005264389.2:n.645+1G>A
XM_011532867.1:c.645+1G>A	XP_011531169.1:n.645+1G>A
XR_939685.1:n.717+1G>A
XM_005264332.4:c.645+1G>A	XP_005264389.2:n.645+1G>A
XM_011532867.2:c.645+1G>A	XP_011531169.1:n.645+1G>A
XR_001738747.2:n.707+1G>A
XR_939685.2:n.707+1G>A
NM_000251.3:c.645+1G>A MANE Select	NP_000242.1:n.645+1G>A