Canonical Allele Identifier: CA019609

Gene: MSH2

Linked Data

• ClinVar Variation Id: 127637
• ClinVar RCV Id: RCV000115514 ; RCV000217714 ; RCV000780441 ; RCV001080304 ; RCV000210146 ; RCV001836731 ; RCV000662941
• dbSNP Id: rs549467183
• ExAC: 2:47702367 G / A
• gnomAD v2: 2-47702367-G-A
• gnomAD v3: 2-47475228-G-A
• gnomAD v4: 2-47475228-G-A
• MyVariant Identifiers: chr2:g.47702367G>A (hg19) ; chr2:g.47475228G>A (hg38)
• PubMed: PMID:26845104

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47475228G>A , CM000664.2:g.47475228G>A	GRCh38
NC_000002.11:g.47702367G>A , CM000664.1:g.47702367G>A	GRCh37
NC_000002.10:g.47555871G>A	NCBI36
NG_007110.2:g.77105G>A , LRG_218:g.77105G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.1963G>A	ENSP00000495641.2:p.Val655Ile
ENST00000233146.7:c.1963G>A MANE Select	ENSP00000233146.2:p.Val655Ile
ENST00000543555.6:c.1765G>A	ENSP00000442697.1:p.Val589Ile
ENST00000644092.1:c.*263G>A	ENSP00000496351.1:n.*263G>A
ENST00000645339.1:c.1963G>A	ENSP00000496441.1:p.Val655Ile
ENST00000645506.1:c.1963G>A	ENSP00000495455.1:p.Val655Ile
ENST00000646415.1:c.1963G>A	ENSP00000495543.1:p.Val655Ile
ENST00000233146.6:c.1963G>A	ENSP00000233146.2:p.Val655Ile
ENST00000406134.5:c.1963G>A	ENSP00000384199.1:p.Val655Ile
ENST00000543555.5:c.1765G>A	ENSP00000442697.1:p.Val589Ile
ENST00000610696.4:c.*359G>A	ENSP00000483159.1:n.*359G>A
ENST00000613514.4:c.*503G>A	ENSP00000484137.1:n.*503G>A
ENST00000617333.3:c.*729G>A	ENSP00000482468.1:n.*729G>A
ENST00000617938.4:c.*935G>A	ENSP00000481158.1:n.*935G>A
ENST00000621359.2:c.1963G>A	ENSP00000481416.1:p.Val655Ile
NM_000251.2:c.1963G>A , LRG_218t1:c.1963G>A	NP_000242.1:p.Val655Ile
NM_001258281.1:c.1765G>A	NP_001245210.1:p.Val589Ile
XM_005264332.2:c.1963G>A	XP_005264389.2:p.Val655Ile
XM_011532867.1:c.1963G>A	XP_011531169.1:p.Val655Ile
XR_939685.1:n.2035G>A
XM_005264332.4:c.1963G>A	XP_005264389.2:p.Val655Ile
XM_011532867.2:c.1963G>A	XP_011531169.1:p.Val655Ile
XR_001738747.2:n.2025G>A
XR_939685.2:n.2025G>A
NM_000251.3:c.1963G>A MANE Select	NP_000242.1:p.Val655Ile