Canonical Allele Identifier: CA020392

Gene: MSH2

Linked Data

• ClinVar Variation Id: 90946
• ClinVar RCV Id: RCV000076448 ; RCV000223378 ; RCV000798392 ; RCV003452903
• dbSNP Id: rs63749854
• MyVariant Identifiers: chr2:g.47705475G>T (hg19) ; chr2:g.47478336G>T (hg38)
• PubMed: PMID:15342696 ; PMID:16034045 ; PMID:19723918 ; PMID:20587412

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47478336G>T , CM000664.2:g.47478336G>T	GRCh38
NC_000002.11:g.47705475G>T , CM000664.1:g.47705475G>T	GRCh37
NC_000002.10:g.47558979G>T	NCBI36
NG_007110.2:g.80213G>T , LRG_218:g.80213G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2275G>T	ENSP00000495641.2:p.Gly759Ter
ENST00000233146.7:c.2275G>T MANE Select	ENSP00000233146.2:p.Gly759Ter
ENST00000543555.6:c.2077G>T	ENSP00000442697.1:p.Gly693Ter
ENST00000644092.1:c.*575G>T	ENSP00000496351.1:n.*575G>T
ENST00000644900.1:c.128G>T
ENST00000645339.1:c.2275G>T	ENSP00000496441.1:p.Gly759Ter
ENST00000645506.1:c.2275G>T	ENSP00000495455.1:p.Gly759Ter
ENST00000646415.1:c.2275G>T	ENSP00000495543.1:p.Gly759Ter
ENST00000233146.6:c.2275G>T	ENSP00000233146.2:p.Gly759Ter
ENST00000406134.5:c.2275G>T	ENSP00000384199.1:p.Gly759Ter
ENST00000543555.5:c.2077G>T	ENSP00000442697.1:p.Gly693Ter
ENST00000610696.4:c.*671G>T	ENSP00000483159.1:n.*671G>T
ENST00000613514.4:c.*815G>T	ENSP00000484137.1:n.*815G>T
ENST00000617333.3:c.*1041G>T	ENSP00000482468.1:n.*1041G>T
ENST00000617938.4:c.*1247G>T	ENSP00000481158.1:n.*1247G>T
ENST00000621359.2:c.2275G>T	ENSP00000481416.1:p.Gly759Ter
NM_000251.2:c.2275G>T , LRG_218t1:c.2275G>T	NP_000242.1:p.Gly759Ter
NM_001258281.1:c.2077G>T	NP_001245210.1:p.Gly693Ter
XM_005264332.2:c.2275G>T	XP_005264389.2:p.Gly759Ter
XM_011532867.1:c.2275G>T	XP_011531169.1:p.Gly759Ter
XR_939685.1:n.2347G>T
XM_005264332.4:c.2275G>T	XP_005264389.2:p.Gly759Ter
XM_011532867.2:c.2275G>T	XP_011531169.1:p.Gly759Ter
XR_001738747.2:n.2337G>T
XR_939685.2:n.2337G>T
NM_000251.3:c.2275G>T MANE Select	NP_000242.1:p.Gly759Ter