Canonical Allele Identifier: CA2580066945

Gene: MSH2

Linked Data

• ClinVar Variation Id: 1760602
• ClinVar RCV Id: RCV002409821

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47412546_47412548delinsTT , CM000664.2:g.47412546_47412548delinsTT	GRCh38
NC_000002.11:g.47639685_47639687delinsTT , CM000664.1:g.47639685_47639687delinsTT	GRCh37
NC_000002.10:g.47493189_47493191delinsTT	NCBI36
NG_007110.2:g.14423_14425delinsTT , LRG_218:g.14423_14425delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.778_780delinsTT	ENSP00000495641.2:p.Glu260LeufsTer14
ENST00000233146.7:c.778_780delinsTT MANE Select	ENSP00000233146.2:p.Glu260LeufsTer14
ENST00000543555.6:c.580_582delinsTT	ENSP00000442697.1:p.Glu194LeufsTer14
ENST00000644092.1:c.778_780delinsTT	ENSP00000496351.1:p.Glu260LeufsTer14
ENST00000645339.1:c.778_780delinsTT	ENSP00000496441.1:p.Glu260LeufsTer14
ENST00000645506.1:c.778_780delinsTT	ENSP00000495455.1:p.Glu260LeufsTer14
ENST00000646415.1:c.778_780delinsTT	ENSP00000495543.1:p.Glu260LeufsTer14
ENST00000233146.6:c.778_780delinsTT	ENSP00000233146.2:p.Glu260LeufsTer14
ENST00000406134.5:c.778_780delinsTT	ENSP00000384199.1:p.Glu260LeufsTer14
ENST00000543555.5:c.580_582delinsTT	ENSP00000442697.1:p.Glu194LeufsTer14
ENST00000610696.4:c.778_780delinsTT	ENSP00000483159.1:p.Glu260LeufsTer14
ENST00000613514.4:c.778_780delinsTT	ENSP00000484137.1:p.Glu260LeufsTer14
ENST00000617333.3:c.778_780delinsTT	ENSP00000482468.1:p.Glu260LeufsTer14
ENST00000617938.4:c.778_780delinsTT	ENSP00000481158.1:p.Glu260LeufsTer14
ENST00000621359.2:c.778_780delinsTT	ENSP00000481416.1:p.Glu260LeufsTer14
NM_000251.2:c.778_780delinsTT , LRG_218t1:c.778_780delinsTT	NP_000242.1:p.Glu260LeufsTer14
NM_001258281.1:c.580_582delinsTT	NP_001245210.1:p.Glu194LeufsTer14
XM_005264332.2:c.778_780delinsTT	XP_005264389.2:p.Glu260LeufsTer14
XM_011532867.1:c.778_780delinsTT	XP_011531169.1:p.Glu260LeufsTer14
XR_939685.1:n.850_852delinsTT
XM_005264332.4:c.778_780delinsTT	XP_005264389.2:p.Glu260LeufsTer14
XM_011532867.2:c.778_780delinsTT	XP_011531169.1:p.Glu260LeufsTer14
XR_001738747.2:n.840_842delinsTT
XR_939685.2:n.840_842delinsTT
NM_000251.3:c.778_780delinsTT MANE Select	NP_000242.1:p.Glu260LeufsTer14