Canonical Allele Identifier: CA916080256

Gene: MSH2

Linked Data

• ClinVar Variation Id: 845713
• ClinVar RCV Id: RCV001048831 ; RCV001284170 ; RCV003455209
• dbSNP Id: rs1667245819

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47475192del , CM000664.2:g.47475192del	GRCh38
NC_000002.11:g.47702331del , CM000664.1:g.47702331del	GRCh37
NC_000002.10:g.47555835del	NCBI36
NG_007110.2:g.77069del , LRG_218:g.77069del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.1927del	ENSP00000495641.2:p.Glu643LysfsTer?
ENST00000233146.7:c.1927del MANE Select	ENSP00000233146.2:p.Glu643LysfsTer?
ENST00000543555.6:c.1729del	ENSP00000442697.1:p.Glu577LysfsTer?
ENST00000644092.1:c.*227del	ENSP00000496351.1:n.*227del
ENST00000645339.1:c.1927del	ENSP00000496441.1:p.Glu643LysfsTer?
ENST00000645506.1:c.1927del	ENSP00000495455.1:p.Glu643LysfsTer?
ENST00000646415.1:c.1927del	ENSP00000495543.1:p.Glu643LysfsTer?
ENST00000233146.6:c.1927del	ENSP00000233146.2:p.Glu643LysfsTer?
ENST00000406134.5:c.1927del	ENSP00000384199.1:p.Glu643LysfsTer?
ENST00000543555.5:c.1729del	ENSP00000442697.1:p.Glu577LysfsTer?
ENST00000610696.4:c.*323del	ENSP00000483159.1:n.*323del
ENST00000613514.4:c.*467del	ENSP00000484137.1:n.*467del
ENST00000617333.3:c.*693del	ENSP00000482468.1:n.*693del
ENST00000617938.4:c.*899del	ENSP00000481158.1:n.*899del
ENST00000621359.2:c.1927del	ENSP00000481416.1:p.Glu643LysfsTer?
NM_000251.2:c.1927del , LRG_218t1:c.1927del	NP_000242.1:p.Glu643LysfsTer?
NM_001258281.1:c.1729del	NP_001245210.1:p.Glu577LysfsTer?
XM_005264332.2:c.1927del	XP_005264389.2:p.Glu643LysfsTer?
XM_011532867.1:c.1927del	XP_011531169.1:p.Glu643LysfsTer?
XR_939685.1:n.1999del
XM_005264332.4:c.1927del	XP_005264389.2:p.Glu643LysfsTer?
XM_011532867.2:c.1927del	XP_011531169.1:p.Glu643LysfsTer?
XR_001738747.2:n.1989del
XR_939685.2:n.1989del
NM_000251.3:c.1927del MANE Select	NP_000242.1:p.Glu643LysfsTer?