Canonical Allele Identifier: CA46702303

Gene: MSH2

Linked Data

• ClinVar Variation Id: 820546
• ClinVar RCV Id: RCV001014118 ; RCV001379379
• dbSNP Id: rs63750234
• COSMIC: COSM26119
• MyVariant Identifiers: chr2:g.47703520G>A (hg19) ; chr2:g.47476381G>A (hg38)
• PubMed: PMID:8589682 ; PMID:10077621 ; PMID:12124176 ; PMID:17720936

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47476381G>A , CM000664.2:g.47476381G>A	GRCh38
NC_000002.11:g.47703520G>A , CM000664.1:g.47703520G>A	GRCh37
NC_000002.10:g.47557024G>A	NCBI36
NG_007110.2:g.78258G>A , LRG_218:g.78258G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000644900.2:c.2020G>A	ENSP00000495641.2:p.Gly674Ser
ENST00000233146.7:c.2020G>A MANE Select	ENSP00000233146.2:p.Gly674Ser
ENST00000543555.6:c.1822G>A	ENSP00000442697.1:p.Gly608Ser
ENST00000644092.1:c.*320G>A	ENSP00000496351.1:n.*320G>A
ENST00000645339.1:c.2020G>A	ENSP00000496441.1:p.Gly674Ser
ENST00000645506.1:c.2020G>A	ENSP00000495455.1:p.Gly674Ser
ENST00000646415.1:c.2020G>A	ENSP00000495543.1:p.Gly674Ser
ENST00000233146.6:c.2020G>A	ENSP00000233146.2:p.Gly674Ser
ENST00000406134.5:c.2020G>A	ENSP00000384199.1:p.Gly674Ser
ENST00000543555.5:c.1822G>A	ENSP00000442697.1:p.Gly608Ser
ENST00000610696.4:c.*416G>A	ENSP00000483159.1:n.*416G>A
ENST00000613514.4:c.*560G>A	ENSP00000484137.1:n.*560G>A
ENST00000617333.3:c.*786G>A	ENSP00000482468.1:n.*786G>A
ENST00000617938.4:c.*992G>A	ENSP00000481158.1:n.*992G>A
ENST00000621359.2:c.2020G>A	ENSP00000481416.1:p.Gly674Ser
NM_000251.2:c.2020G>A , LRG_218t1:c.2020G>A	NP_000242.1:p.Gly674Ser
NM_001258281.1:c.1822G>A	NP_001245210.1:p.Gly608Ser
XM_005264332.2:c.2020G>A	XP_005264389.2:p.Gly674Ser
XM_011532867.1:c.2020G>A	XP_011531169.1:p.Gly674Ser
XR_939685.1:n.2092G>A
XM_005264332.4:c.2020G>A	XP_005264389.2:p.Gly674Ser
XM_011532867.2:c.2020G>A	XP_011531169.1:p.Gly674Ser
XR_001738747.2:n.2082G>A
XR_939685.2:n.2082G>A
NM_000251.3:c.2020G>A MANE Select	NP_000242.1:p.Gly674Ser