Canonical Allele Identifier: CA020155

Gene: MSH2

Linked Data

• ClinVar Variation Id: 141769
• ClinVar RCV Id: RCV000130409 ; RCV000168465 ; RCV000509191 ; RCV000487305 ; RCV003998056 ; RCV004532559
• dbSNP Id: rs587781996
• ExAC: 2:47703664 G / A
• gnomAD v2: 2-47703664-G-A
• gnomAD v3: 2-47476525-G-A
• gnomAD v4: 2-47476525-G-A
• MyVariant Identifiers: chr2:g.47703664G>A (hg19) ; chr2:g.47476525G>A (hg38)
• PubMed: PMID:14526391 ; PMID:16995940 ; PMID:19697156 ; PMID:21120944 ; PMID:27601186

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47476525G>A , CM000664.2:g.47476525G>A	GRCh38
NC_000002.11:g.47703664G>A , CM000664.1:g.47703664G>A	GRCh37
NC_000002.10:g.47557168G>A	NCBI36
NG_007110.2:g.78402G>A , LRG_218:g.78402G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2164G>A	ENSP00000495641.2:p.Val722Ile
ENST00000233146.7:c.2164G>A MANE Select	ENSP00000233146.2:p.Val722Ile
ENST00000543555.6:c.1966G>A	ENSP00000442697.1:p.Val656Ile
ENST00000644092.1:c.*464G>A	ENSP00000496351.1:n.*464G>A
ENST00000644900.1:c.17G>A
ENST00000645339.1:c.2164G>A	ENSP00000496441.1:p.Val722Ile
ENST00000645506.1:c.2164G>A	ENSP00000495455.1:p.Val722Ile
ENST00000646415.1:c.2164G>A	ENSP00000495543.1:p.Val722Ile
ENST00000233146.6:c.2164G>A	ENSP00000233146.2:p.Val722Ile
ENST00000406134.5:c.2164G>A	ENSP00000384199.1:p.Val722Ile
ENST00000543555.5:c.1966G>A	ENSP00000442697.1:p.Val656Ile
ENST00000610696.4:c.*560G>A	ENSP00000483159.1:n.*560G>A
ENST00000613514.4:c.*704G>A	ENSP00000484137.1:n.*704G>A
ENST00000617333.3:c.*930G>A	ENSP00000482468.1:n.*930G>A
ENST00000617938.4:c.*1136G>A	ENSP00000481158.1:n.*1136G>A
ENST00000621359.2:c.2164G>A	ENSP00000481416.1:p.Val722Ile
NM_000251.2:c.2164G>A , LRG_218t1:c.2164G>A	NP_000242.1:p.Val722Ile
NM_001258281.1:c.1966G>A	NP_001245210.1:p.Val656Ile
XM_005264332.2:c.2164G>A	XP_005264389.2:p.Val722Ile
XM_011532867.1:c.2164G>A	XP_011531169.1:p.Val722Ile
XR_939685.1:n.2236G>A
XM_005264332.4:c.2164G>A	XP_005264389.2:p.Val722Ile
XM_011532867.2:c.2164G>A	XP_011531169.1:p.Val722Ile
XR_001738747.2:n.2226G>A
XR_939685.2:n.2226G>A
NM_000251.3:c.2164G>A MANE Select	NP_000242.1:p.Val722Ile