Canonical Allele Identifier: CA016934

Gene: MSH2

Linked Data

• ClinVar Variation Id: 90509
• ClinVar RCV Id: RCV000076004 ; RCV000691659 ; RCV001250028 ; RCV002390221 ; RCV003452796
• dbSNP Id: rs63751027
• COSMIC: COSM133153
• MyVariant Identifiers: chr2:g.47643526G>A (hg19) ; chr2:g.47416387G>A (hg38)
• PubMed: PMID:16142001 ; PMID:17473388 ; PMID:28263302

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47416387G>A , CM000664.2:g.47416387G>A	GRCh38
NC_000002.11:g.47643526G>A , CM000664.1:g.47643526G>A	GRCh37
NC_000002.10:g.47497030G>A	NCBI36
NG_007110.2:g.18264G>A , LRG_218:g.18264G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.1034G>A	ENSP00000495641.2:p.Trp345Ter
ENST00000233146.7:c.1034G>A MANE Select	ENSP00000233146.2:p.Trp345Ter
ENST00000543555.6:c.836G>A	ENSP00000442697.1:p.Trp279Ter
ENST00000644092.1:c.1034G>A	ENSP00000496351.1:p.Trp345Ter
ENST00000645339.1:c.1034G>A	ENSP00000496441.1:p.Trp345Ter
ENST00000645506.1:c.1034G>A	ENSP00000495455.1:p.Trp345Ter
ENST00000646415.1:c.1034G>A	ENSP00000495543.1:p.Trp345Ter
ENST00000233146.6:c.1034G>A	ENSP00000233146.2:p.Trp345Ter
ENST00000406134.5:c.1034G>A	ENSP00000384199.1:p.Trp345Ter
ENST00000543555.5:c.836G>A	ENSP00000442697.1:p.Trp279Ter
ENST00000610696.4:c.1034G>A	ENSP00000483159.1:p.Trp345Ter
ENST00000613514.4:c.1034G>A	ENSP00000484137.1:p.Trp345Ter
ENST00000617333.3:c.1034G>A	ENSP00000482468.1:p.Trp345Ter
ENST00000617938.4:c.*6G>A	ENSP00000481158.1:n.*6G>A
ENST00000621359.2:c.1034G>A	ENSP00000481416.1:p.Trp345Ter
NM_000251.2:c.1034G>A , LRG_218t1:c.1034G>A	NP_000242.1:p.Trp345Ter
NM_001258281.1:c.836G>A	NP_001245210.1:p.Trp279Ter
XM_005264332.2:c.1034G>A	XP_005264389.2:p.Trp345Ter
XM_011532867.1:c.1034G>A	XP_011531169.1:p.Trp345Ter
XR_939685.1:n.1106G>A
XM_005264332.4:c.1034G>A	XP_005264389.2:p.Trp345Ter
XM_011532867.2:c.1034G>A	XP_011531169.1:p.Trp345Ter
XR_001738747.2:n.1096G>A
XR_939685.2:n.1096G>A
NM_000251.3:c.1034G>A MANE Select	NP_000242.1:p.Trp345Ter