Canonical Allele Identifier: CA2580066910

Gene: MSH2

Linked Data

• ClinVar Variation Id: 1789888
• ClinVar RCV Id: RCV002448305 ; RCV003455464

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47478403del , CM000664.2:g.47478403del	GRCh38
NC_000002.11:g.47705542del , CM000664.1:g.47705542del	GRCh37
NC_000002.10:g.47559046del	NCBI36
NG_007110.2:g.80280del , LRG_218:g.80280del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2342del	ENSP00000495641.2:p.Ala781GlufsTer?
ENST00000233146.7:c.2342del MANE Select	ENSP00000233146.2:p.Ala781GlufsTer?
ENST00000543555.6:c.2144del	ENSP00000442697.1:p.Ala715GlufsTer?
ENST00000644092.1:c.*642del	ENSP00000496351.1:n.*642del
ENST00000644900.1:c.195del
ENST00000645339.1:c.2342del	ENSP00000496441.1:p.Ala781GlufsTer?
ENST00000645506.1:c.2342del	ENSP00000495455.1:p.Ala781GlufsTer?
ENST00000646415.1:c.2342del	ENSP00000495543.1:p.Ala781GlufsTer?
ENST00000233146.6:c.2342del	ENSP00000233146.2:p.Ala781GlufsTer?
ENST00000406134.5:c.2342del	ENSP00000384199.1:p.Ala781GlufsTer?
ENST00000543555.5:c.2144del	ENSP00000442697.1:p.Ala715GlufsTer?
ENST00000610696.4:c.*738del	ENSP00000483159.1:n.*738del
ENST00000613514.4:c.*882del	ENSP00000484137.1:n.*882del
ENST00000617333.3:c.*1108del	ENSP00000482468.1:n.*1108del
ENST00000617938.4:c.*1314del	ENSP00000481158.1:n.*1314del
ENST00000621359.2:c.2342del	ENSP00000481416.1:p.Ala781GlufsTer5
NM_000251.2:c.2342del , LRG_218t1:c.2342del	NP_000242.1:p.Ala781GlufsTer?
NM_001258281.1:c.2144del	NP_001245210.1:p.Ala715GlufsTer?
XM_005264332.2:c.2342del	XP_005264389.2:p.Ala781GlufsTer?
XM_011532867.1:c.2342del	XP_011531169.1:p.Ala781GlufsTer?
XR_939685.1:n.2414del
XM_005264332.4:c.2342del	XP_005264389.2:p.Ala781GlufsTer?
XM_011532867.2:c.2342del	XP_011531169.1:p.Ala781GlufsTer?
XR_001738747.2:n.2404del
XR_939685.2:n.2404del
NM_000251.3:c.2342del MANE Select	NP_000242.1:p.Ala781GlufsTer?