Canonical Allele Identifier: CA020422

Gene: MSH2

Linked Data

• ClinVar Variation Id: 90948
• ClinVar RCV Id: RCV000076450 ; RCV000491006 ; RCV000694856 ; RCV003452904
• dbSNP Id: rs587779143
• MyVariant Identifiers: chr2:g.47705491G>A (hg19) ; chr2:g.47478352G>A (hg38)
• PubMed: PMID:15945244 ; PMID:20388775 ; PMID:23537056 ; PMID:25980754

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47478352G>A , CM000664.2:g.47478352G>A	GRCh38
NC_000002.11:g.47705491G>A , CM000664.1:g.47705491G>A	GRCh37
NC_000002.10:g.47558995G>A	NCBI36
NG_007110.2:g.80229G>A , LRG_218:g.80229G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2291G>A	ENSP00000495641.2:p.Trp764Ter
ENST00000233146.7:c.2291G>A MANE Select	ENSP00000233146.2:p.Trp764Ter
ENST00000543555.6:c.2093G>A	ENSP00000442697.1:p.Trp698Ter
ENST00000644092.1:c.*591G>A	ENSP00000496351.1:n.*591G>A
ENST00000644900.1:c.144G>A
ENST00000645339.1:c.2291G>A	ENSP00000496441.1:p.Trp764Ter
ENST00000645506.1:c.2291G>A	ENSP00000495455.1:p.Trp764Ter
ENST00000646415.1:c.2291G>A	ENSP00000495543.1:p.Trp764Ter
ENST00000233146.6:c.2291G>A	ENSP00000233146.2:p.Trp764Ter
ENST00000406134.5:c.2291G>A	ENSP00000384199.1:p.Trp764Ter
ENST00000543555.5:c.2093G>A	ENSP00000442697.1:p.Trp698Ter
ENST00000610696.4:c.*687G>A	ENSP00000483159.1:n.*687G>A
ENST00000613514.4:c.*831G>A	ENSP00000484137.1:n.*831G>A
ENST00000617333.3:c.*1057G>A	ENSP00000482468.1:n.*1057G>A
ENST00000617938.4:c.*1263G>A	ENSP00000481158.1:n.*1263G>A
ENST00000621359.2:c.2291G>A	ENSP00000481416.1:p.Trp764Ter
NM_000251.2:c.2291G>A , LRG_218t1:c.2291G>A	NP_000242.1:p.Trp764Ter
NM_001258281.1:c.2093G>A	NP_001245210.1:p.Trp698Ter
XM_005264332.2:c.2291G>A	XP_005264389.2:p.Trp764Ter
XM_011532867.1:c.2291G>A	XP_011531169.1:p.Trp764Ter
XR_939685.1:n.2363G>A
XM_005264332.4:c.2291G>A	XP_005264389.2:p.Trp764Ter
XM_011532867.2:c.2291G>A	XP_011531169.1:p.Trp764Ter
XR_001738747.2:n.2353G>A
XR_939685.2:n.2353G>A
NM_000251.3:c.2291G>A MANE Select	NP_000242.1:p.Trp764Ter