Canonical Allele Identifier: CA019942

Gene: MSH2

Linked Data

• ClinVar Variation Id: 90875
• ClinVar RCV Id: RCV000165796 ; RCV000410248 ; RCV000524376 ; RCV001030713 ; RCV001260344 ; RCV001588898 ; RCV003997157
• dbSNP Id: rs63750790
• ExAC: 2:47703564 G / A
• gnomAD v2: 2-47703564-G-A
• gnomAD v3: 2-47476425-G-A
• gnomAD v4: 2-47476425-G-A
• MyVariant Identifiers: chr2:g.47703564G>A (hg19) ; chr2:g.47476425G>A (hg38)
• PubMed: PMID:9559627 ; PMID:10777691 ; PMID:14499697 ; PMID:15365995 ; PMID:15527911 ; PMID:17720936 ; PMID:18383312 ; PMID:21309037 ; PMID:22949387 ; PMID:23760103 ; PMID:26206375 ; PMID:26332594 ; PMID:26951660

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47476425G>A , CM000664.2:g.47476425G>A	GRCh38
NC_000002.11:g.47703564G>A , CM000664.1:g.47703564G>A	GRCh37
NC_000002.10:g.47557068G>A	NCBI36
NG_007110.2:g.78302G>A , LRG_218:g.78302G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2064G>A	ENSP00000495641.2:p.Met688Ile
ENST00000233146.7:c.2064G>A MANE Select	ENSP00000233146.2:p.Met688Ile
ENST00000543555.6:c.1866G>A	ENSP00000442697.1:p.Met622Ile
ENST00000644092.1:c.*364G>A	ENSP00000496351.1:n.*364G>A
ENST00000645339.1:c.2064G>A	ENSP00000496441.1:p.Met688Ile
ENST00000645506.1:c.2064G>A	ENSP00000495455.1:p.Met688Ile
ENST00000646415.1:c.2064G>A	ENSP00000495543.1:p.Met688Ile
ENST00000233146.6:c.2064G>A	ENSP00000233146.2:p.Met688Ile
ENST00000406134.5:c.2064G>A	ENSP00000384199.1:p.Met688Ile
ENST00000543555.5:c.1866G>A	ENSP00000442697.1:p.Met622Ile
ENST00000610696.4:c.*460G>A	ENSP00000483159.1:n.*460G>A
ENST00000613514.4:c.*604G>A	ENSP00000484137.1:n.*604G>A
ENST00000617333.3:c.*830G>A	ENSP00000482468.1:n.*830G>A
ENST00000617938.4:c.*1036G>A	ENSP00000481158.1:n.*1036G>A
ENST00000621359.2:c.2064G>A	ENSP00000481416.1:p.Met688Ile
NM_000251.2:c.2064G>A , LRG_218t1:c.2064G>A	NP_000242.1:p.Met688Ile
NM_001258281.1:c.1866G>A	NP_001245210.1:p.Met622Ile
XM_005264332.2:c.2064G>A	XP_005264389.2:p.Met688Ile
XM_011532867.1:c.2064G>A	XP_011531169.1:p.Met688Ile
XR_939685.1:n.2136G>A
XM_005264332.4:c.2064G>A	XP_005264389.2:p.Met688Ile
XM_011532867.2:c.2064G>A	XP_011531169.1:p.Met688Ile
XR_001738747.2:n.2126G>A
XR_939685.2:n.2126G>A
NM_000251.3:c.2064G>A MANE Select	NP_000242.1:p.Met688Ile