Canonical Allele Identifier: CA2573134887

Gene: MSH2

Linked Data

• ClinVar Variation Id: 1462767
• ClinVar RCV Id: RCV001954348
• dbSNP Id: rs2104379748

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47476575_47476576delinsTT , CM000664.2:g.47476575_47476576delinsTT	GRCh38
NC_000002.11:g.47703714_47703715delinsTT , CM000664.1:g.47703714_47703715delinsTT	GRCh37
NC_000002.10:g.47557218_47557219delinsTT	NCBI36
NG_007110.2:g.78452_78453delinsTT , LRG_218:g.78452_78453delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2210+4_2210+5delinsTT	ENSP00000495641.2:n.2210+4_2210+5delinsTT
ENST00000233146.7:c.2210+4_2210+5delinsTT MANE Select	ENSP00000233146.2:n.2210+4_2210+5delinsTT
ENST00000543555.6:c.2012+4_2012+5delinsTT	ENSP00000442697.1:n.2012+4_2012+5delinsTT
ENST00000644092.1:c.*510+4_*510+5delinsTT	ENSP00000496351.1:n.*510+4_*510+5delinsTT
ENST00000644900.1:c.63+4_63+5delinsTT
ENST00000645339.1:c.2210+4_2210+5delinsTT	ENSP00000496441.1:n.2210+4_2210+5delinsTT
ENST00000645506.1:c.2210+4_2210+5delinsTT	ENSP00000495455.1:n.2210+4_2210+5delinsTT
ENST00000646415.1:c.2210+4_2210+5delinsTT	ENSP00000495543.1:n.2210+4_2210+5delinsTT
ENST00000233146.6:c.2210+4_2210+5delinsTT	ENSP00000233146.2:n.2210+4_2210+5delinsTT
ENST00000406134.5:c.2210+4_2210+5delinsTT	ENSP00000384199.1:n.2210+4_2210+5delinsTT
ENST00000543555.5:c.2012+4_2012+5delinsTT	ENSP00000442697.1:n.2012+4_2012+5delinsTT
ENST00000610696.4:c.*606+4_*606+5delinsTT	ENSP00000483159.1:n.*606+4_*606+5delinsTT
ENST00000613514.4:c.*750+4_*750+5delinsTT	ENSP00000484137.1:n.*750+4_*750+5delinsTT
ENST00000617333.3:c.*976+4_*976+5delinsTT	ENSP00000482468.1:n.*976+4_*976+5delinsTT
ENST00000617938.4:c.*1182+4_*1182+5delinsTT	ENSP00000481158.1:n.*1182+4_*1182+5delinsTT
ENST00000621359.2:c.2210+4_2210+5delinsTT	ENSP00000481416.1:n.2210+4_2210+5delinsTT
NM_000251.2:c.2210+4_2210+5delinsTT , LRG_218t1:c.2210+4_2210+5delinsTT	NP_000242.1:n.2210+4_2210+5delinsTT
NM_001258281.1:c.2012+4_2012+5delinsTT	NP_001245210.1:n.2012+4_2012+5delinsTT
XM_005264332.2:c.2210+4_2210+5delinsTT	XP_005264389.2:n.2210+4_2210+5delinsTT
XM_011532867.1:c.2210+4_2210+5delinsTT	XP_011531169.1:n.2210+4_2210+5delinsTT
XR_939685.1:n.2282+4_2282+5delinsTT
XM_005264332.4:c.2210+4_2210+5delinsTT	XP_005264389.2:n.2210+4_2210+5delinsTT
XM_011532867.2:c.2210+4_2210+5delinsTT	XP_011531169.1:n.2210+4_2210+5delinsTT
XR_001738747.2:n.2272+4_2272+5delinsTT
XR_939685.2:n.2272+4_2272+5delinsTT
NM_000251.3:c.2210+4_2210+5delinsTT MANE Select	NP_000242.1:n.2210+4_2210+5delinsTT