Canonical Allele Identifier: CA2495873411

Gene: MSH2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47476788_47476790delinsTAG , CM000664.2:g.47476788_47476790delinsTAG	GRCh38
NC_000002.11:g.47703927_47703929delinsTAG , CM000664.1:g.47703927_47703929delinsTAG	GRCh37
NC_000002.10:g.47557431_47557433delinsTAG	NCBI36
NG_007110.2:g.78665_78667delinsTAG , LRG_218:g.78665_78667delinsTAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2210+217_2210+219delinsTAG	ENSP00000495641.2:n.2210+217_2210+219delinsTAG
ENST00000233146.7:c.2210+217_2210+219delinsTAG MANE Select	ENSP00000233146.2:n.2210+217_2210+219delinsTAG
ENST00000543555.6:c.2012+217_2012+219delinsTAG	ENSP00000442697.1:n.2012+217_2012+219delinsTAG
ENST00000644092.1:c.*510+217_*510+219delinsTAG	ENSP00000496351.1:n.*510+217_*510+219delinsTAG
ENST00000644900.1:c.63+217_63+219delinsTAG
ENST00000645339.1:c.2210+217_2210+219delinsTAG	ENSP00000496441.1:n.2210+217_2210+219delinsTAG
ENST00000645506.1:c.2210+217_2210+219delinsTAG	ENSP00000495455.1:n.2210+217_2210+219delinsTAG
ENST00000646415.1:c.2210+217_2210+219delinsTAG	ENSP00000495543.1:n.2210+217_2210+219delinsTAG
ENST00000233146.6:c.2210+217_2210+219delinsTAG	ENSP00000233146.2:n.2210+217_2210+219delinsTAG
ENST00000406134.5:c.2210+217_2210+219delinsTAG	ENSP00000384199.1:n.2210+217_2210+219delinsTAG
ENST00000543555.5:c.2012+217_2012+219delinsTAG	ENSP00000442697.1:n.2012+217_2012+219delinsTAG
ENST00000610696.4:c.*606+217_*606+219delinsTAG	ENSP00000483159.1:n.*606+217_*606+219delinsTAG
ENST00000613514.4:c.*750+217_*750+219delinsTAG	ENSP00000484137.1:n.*750+217_*750+219delinsTAG
ENST00000617333.3:c.*976+217_*976+219delinsTAG	ENSP00000482468.1:n.*976+217_*976+219delinsTAG
ENST00000617938.4:c.*1182+217_*1182+219delinsTAG	ENSP00000481158.1:n.*1182+217_*1182+219delinsTAG
ENST00000621359.2:c.2210+217_2210+219delinsTAG	ENSP00000481416.1:n.2210+217_2210+219delinsTAG
NM_000251.2:c.2210+217_2210+219delinsTAG , LRG_218t1:c.2210+217_2210+219delinsTAG	NP_000242.1:n.2210+217_2210+219delinsTAG
NM_001258281.1:c.2012+217_2012+219delinsTAG	NP_001245210.1:n.2012+217_2012+219delinsTAG
XM_005264332.2:c.2210+217_2210+219delinsTAG	XP_005264389.2:n.2210+217_2210+219delinsTAG
XM_011532867.1:c.2210+217_2210+219delinsTAG	XP_011531169.1:n.2210+217_2210+219delinsTAG
XR_939685.1:n.2282+217_2282+219delinsTAG
XM_005264332.4:c.2210+217_2210+219delinsTAG	XP_005264389.2:n.2210+217_2210+219delinsTAG
XM_011532867.2:c.2210+217_2210+219delinsTAG	XP_011531169.1:n.2210+217_2210+219delinsTAG
XR_001738747.2:n.2272+217_2272+219delinsTAG
XR_939685.2:n.2272+217_2272+219delinsTAG
NM_000251.3:c.2210+217_2210+219delinsTAG MANE Select	NP_000242.1:n.2210+217_2210+219delinsTAG