Canonical Allele Identifier: CA346729765

Gene: MSH2

Linked Data

• ClinVar Variation Id: 439192
• ClinVar RCV Id: RCV000508314 ; RCV000680198 ; RCV001014940 ; RCV003593976
• dbSNP Id: rs63751119
• MyVariant Identifiers: chr2:g.47705451G>C (hg19) ; chr2:g.47478312G>C (hg38)
• PubMed: PMID:10732761 ; PMID:17720936 ; PMID:24278394

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47478312G>C , CM000664.2:g.47478312G>C	GRCh38
NC_000002.11:g.47705451G>C , CM000664.1:g.47705451G>C	GRCh37
NC_000002.10:g.47558955G>C	NCBI36
NG_007110.2:g.80189G>C , LRG_218:g.80189G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2251G>C	ENSP00000495641.2:p.Gly751Arg
ENST00000233146.7:c.2251G>C MANE Select	ENSP00000233146.2:p.Gly751Arg
ENST00000543555.6:c.2053G>C	ENSP00000442697.1:p.Gly685Arg
ENST00000644092.1:c.*551G>C	ENSP00000496351.1:n.*551G>C
ENST00000644900.1:c.104G>C
ENST00000645339.1:c.2251G>C	ENSP00000496441.1:p.Gly751Arg
ENST00000645506.1:c.2251G>C	ENSP00000495455.1:p.Gly751Arg
ENST00000646415.1:c.2251G>C	ENSP00000495543.1:p.Gly751Arg
ENST00000233146.6:c.2251G>C	ENSP00000233146.2:p.Gly751Arg
ENST00000406134.5:c.2251G>C	ENSP00000384199.1:p.Gly751Arg
ENST00000543555.5:c.2053G>C	ENSP00000442697.1:p.Gly685Arg
ENST00000610696.4:c.*647G>C	ENSP00000483159.1:n.*647G>C
ENST00000613514.4:c.*791G>C	ENSP00000484137.1:n.*791G>C
ENST00000617333.3:c.*1017G>C	ENSP00000482468.1:n.*1017G>C
ENST00000617938.4:c.*1223G>C	ENSP00000481158.1:n.*1223G>C
ENST00000621359.2:c.2251G>C	ENSP00000481416.1:p.Gly751Arg
NM_000251.2:c.2251G>C , LRG_218t1:c.2251G>C	NP_000242.1:p.Gly751Arg
NM_001258281.1:c.2053G>C	NP_001245210.1:p.Gly685Arg
XM_005264332.2:c.2251G>C	XP_005264389.2:p.Gly751Arg
XM_011532867.1:c.2251G>C	XP_011531169.1:p.Gly751Arg
XR_939685.1:n.2323G>C
XM_005264332.4:c.2251G>C	XP_005264389.2:p.Gly751Arg
XM_011532867.2:c.2251G>C	XP_011531169.1:p.Gly751Arg
XR_001738747.2:n.2313G>C
XR_939685.2:n.2313G>C
NM_000251.3:c.2251G>C MANE Select	NP_000242.1:p.Gly751Arg