Canonical Allele Identifier: CA019354

Gene: MSH2

Linked Data

• ClinVar Variation Id: 90791
• ClinVar RCV Id: RCV000076292 ; RCV001854317 ; RCV002408595 ; RCV003460714
• dbSNP Id: rs267607985
• MyVariant Identifiers: chr2:g.47702212A>G (hg19) ; chr2:g.47475073A>G (hg38)
• PubMed: PMID:18186571

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47475073A>G , CM000664.2:g.47475073A>G	GRCh38
NC_000002.11:g.47702212A>G , CM000664.1:g.47702212A>G	GRCh37
NC_000002.10:g.47555716A>G	NCBI36
NG_007110.2:g.76950A>G , LRG_218:g.76950A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.1808A>G	ENSP00000495641.2:p.Asp603Gly
ENST00000233146.7:c.1808A>G MANE Select	ENSP00000233146.2:p.Asp603Gly
ENST00000543555.6:c.1610A>G	ENSP00000442697.1:p.Asp537Gly
ENST00000644092.1:c.*108A>G	ENSP00000496351.1:n.*108A>G
ENST00000645339.1:c.1808A>G	ENSP00000496441.1:p.Asp603Gly
ENST00000645506.1:c.1808A>G	ENSP00000495455.1:p.Asp603Gly
ENST00000646415.1:c.1808A>G	ENSP00000495543.1:p.Asp603Gly
ENST00000233146.6:c.1808A>G	ENSP00000233146.2:p.Asp603Gly
ENST00000406134.5:c.1808A>G	ENSP00000384199.1:p.Asp603Gly
ENST00000543555.5:c.1610A>G	ENSP00000442697.1:p.Asp537Gly
ENST00000610696.4:c.*204A>G	ENSP00000483159.1:n.*204A>G
ENST00000613514.4:c.*348A>G	ENSP00000484137.1:n.*348A>G
ENST00000617333.3:c.*574A>G	ENSP00000482468.1:n.*574A>G
ENST00000617938.4:c.*780A>G	ENSP00000481158.1:n.*780A>G
ENST00000621359.2:c.1808A>G	ENSP00000481416.1:p.Asp603Gly
NM_000251.2:c.1808A>G , LRG_218t1:c.1808A>G	NP_000242.1:p.Asp603Gly
NM_001258281.1:c.1610A>G	NP_001245210.1:p.Asp537Gly
XM_005264332.2:c.1808A>G	XP_005264389.2:p.Asp603Gly
XM_011532867.1:c.1808A>G	XP_011531169.1:p.Asp603Gly
XR_939685.1:n.1880A>G
XM_005264332.4:c.1808A>G	XP_005264389.2:p.Asp603Gly
XM_011532867.2:c.1808A>G	XP_011531169.1:p.Asp603Gly
XR_001738747.2:n.1870A>G
XR_939685.2:n.1870A>G
NM_000251.3:c.1808A>G MANE Select	NP_000242.1:p.Asp603Gly