Canonical Allele Identifier: CA020643

Gene: MSH2

Linked Data

• ClinVar Variation Id: 90986
• ClinVar RCV Id: RCV000076488 ; RCV000131725 ; RCV000679306 ; RCV000659884 ; RCV001084815
• dbSNP Id: rs63750757
• ExAC: 2:47707876 G / A
• gnomAD v2: 2-47707876-G-A
• gnomAD v3: 2-47480737-G-A
• gnomAD v4: 2-47480737-G-A
• MyVariant Identifiers: chr2:g.47707876G>A (hg19) ; chr2:g.47480737G>A (hg38)
• PubMed: PMID:9311737 ; PMID:9709044 ; PMID:15849733 ; PMID:17101317 ; PMID:17192056 ; PMID:18383312 ; PMID:18547406 ; PMID:18822302 ; PMID:21120944 ; PMID:21239990 ; PMID:22102614 ; PMID:22949387 ; PMID:24362816 ; PMID:25871441 ; PMID:26951660

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47480737G>A , CM000664.2:g.47480737G>A	GRCh38
NC_000002.11:g.47707876G>A , CM000664.1:g.47707876G>A	GRCh37
NC_000002.10:g.47561380G>A	NCBI36
NG_007110.2:g.82614G>A , LRG_218:g.82614G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2500G>A	ENSP00000495641.2:p.Ala834Thr
ENST00000233146.7:c.2500G>A MANE Select	ENSP00000233146.2:p.Ala834Thr
ENST00000543555.6:c.2302G>A	ENSP00000442697.1:p.Ala768Thr
ENST00000644092.1:c.*800G>A	ENSP00000496351.1:n.*800G>A
ENST00000644900.1:c.353G>A
ENST00000645339.1:c.2500G>A	ENSP00000496441.1:p.Ala834Thr
ENST00000645506.1:c.2500G>A	ENSP00000495455.1:p.Ala834Thr
ENST00000646415.1:c.2500G>A	ENSP00000495543.1:p.Ala834Thr
ENST00000233146.6:c.2500G>A	ENSP00000233146.2:p.Ala834Thr
ENST00000406134.5:c.2500G>A	ENSP00000384199.1:p.Ala834Thr
ENST00000543555.5:c.2302G>A	ENSP00000442697.1:p.Ala768Thr
ENST00000610696.4:c.*896G>A	ENSP00000483159.1:n.*896G>A
ENST00000613514.4:c.*1040G>A	ENSP00000484137.1:n.*1040G>A
ENST00000617333.3:c.*1266G>A	ENSP00000482468.1:n.*1266G>A
ENST00000617938.4:c.*1472G>A	ENSP00000481158.1:n.*1472G>A
ENST00000621359.2:c.*66G>A	ENSP00000481416.1:n.*66G>A
NM_000251.2:c.2500G>A , LRG_218t1:c.2500G>A	NP_000242.1:p.Ala834Thr
NM_001258281.1:c.2302G>A	NP_001245210.1:p.Ala768Thr
XM_005264332.2:c.2500G>A	XP_005264389.2:p.Ala834Thr
XM_011532867.1:c.2500G>A	XP_011531169.1:p.Ala834Thr
XR_939685.1:n.2572G>A
XM_005264332.4:c.2500G>A	XP_005264389.2:p.Ala834Thr
XM_011532867.2:c.2500G>A	XP_011531169.1:p.Ala834Thr
XR_001738747.2:n.2562G>A
XR_939685.2:n.2562G>A
NM_000251.3:c.2500G>A MANE Select	NP_000242.1:p.Ala834Thr