Canonical Allele Identifier: CA018218

Gene: MSH2

Linked Data

• ClinVar Variation Id: 90655
• ClinVar RCV Id: RCV000076151
• dbSNP Id: rs587779088
• MyVariant Identifiers: chr2:g.47690173del (hg19) ; chr2:g.47463034del (hg38)
• PubMed: PMID:75 ; PMID:18566915

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47463034del , CM000664.2:g.47463034del	GRCh38
NC_000002.11:g.47690173del , CM000664.1:g.47690173del	GRCh37
NC_000002.10:g.47543677del	NCBI36
NG_007110.2:g.64911del , LRG_218:g.64911del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.1390del	ENSP00000495641.2:p.Glu464LysfsTer7
ENST00000233146.7:c.1390del MANE Select	ENSP00000233146.2:p.Glu464LysfsTer7
ENST00000543555.6:c.1192del	ENSP00000442697.1:p.Glu398LysfsTer7
ENST00000644092.1:c.1390del	ENSP00000496351.1:p.Glu464LysfsTer7
ENST00000645339.1:c.1390del	ENSP00000496441.1:p.Glu464LysfsTer7
ENST00000645506.1:c.1390del	ENSP00000495455.1:p.Glu464LysfsTer7
ENST00000646415.1:c.1390del	ENSP00000495543.1:p.Glu464LysfsTer7
ENST00000233146.6:c.1390del	ENSP00000233146.2:p.Glu464LysfsTer7
ENST00000406134.5:c.1390del	ENSP00000384199.1:p.Glu464LysfsTer7
ENST00000543555.5:c.1192del	ENSP00000442697.1:p.Glu398LysfsTer7
ENST00000610696.4:c.1390del	ENSP00000483159.1:p.Glu464LysfsTer7
ENST00000613514.4:c.1390del	ENSP00000484137.1:p.Glu464LysfsTer7
ENST00000617333.3:c.*156del	ENSP00000482468.1:n.*156del
ENST00000617938.4:c.*362del	ENSP00000481158.1:n.*362del
ENST00000621359.2:c.1390del	ENSP00000481416.1:p.Glu464LysfsTer7
NM_000251.2:c.1390del , LRG_218t1:c.1390del	NP_000242.1:p.Glu464LysfsTer7
NM_001258281.1:c.1192del	NP_001245210.1:p.Glu398LysfsTer7
XM_005264332.2:c.1390del	XP_005264389.2:p.Glu464LysfsTer7
XM_011532867.1:c.1390del	XP_011531169.1:p.Glu464LysfsTer7
XR_939685.1:n.1462del
XM_005264332.4:c.1390del	XP_005264389.2:p.Glu464LysfsTer7
XM_011532867.2:c.1390del	XP_011531169.1:p.Glu464LysfsTer7
XR_001738747.2:n.1452del
XR_939685.2:n.1452del
NM_000251.3:c.1390del MANE Select	NP_000242.1:p.Glu464LysfsTer7