Canonical Allele Identifier: CA2658948484

Gene: MSH2

Linked Data

• gnomAD v4: 2-47476685-T-TTAAAC

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47476688_47476689insACTAA , CM000664.2:g.47476688_47476689insACTAA	GRCh38
NC_000002.11:g.47703827_47703828insACTAA , CM000664.1:g.47703827_47703828insACTAA	GRCh37
NC_000002.10:g.47557331_47557332insACTAA	NCBI36
NG_007110.2:g.78565_78566insACTAA , LRG_218:g.78565_78566insACTAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2210+117_2210+118insACTAA	ENSP00000495641.2:n.2210+117_2210+118insACTAA
ENST00000233146.7:c.2210+117_2210+118insACTAA MANE Select	ENSP00000233146.2:n.2210+117_2210+118insACTAA
ENST00000543555.6:c.2012+117_2012+118insACTAA	ENSP00000442697.1:n.2012+117_2012+118insACTAA
ENST00000644092.1:c.*510+117_*510+118insACTAA	ENSP00000496351.1:n.*510+117_*510+118insACTAA
ENST00000644900.1:c.63+117_63+118insACTAA
ENST00000645339.1:c.2210+117_2210+118insACTAA	ENSP00000496441.1:n.2210+117_2210+118insACTAA
ENST00000645506.1:c.2210+117_2210+118insACTAA	ENSP00000495455.1:n.2210+117_2210+118insACTAA
ENST00000646415.1:c.2210+117_2210+118insACTAA	ENSP00000495543.1:n.2210+117_2210+118insACTAA
ENST00000233146.6:c.2210+117_2210+118insACTAA	ENSP00000233146.2:n.2210+117_2210+118insACTAA
ENST00000406134.5:c.2210+117_2210+118insACTAA	ENSP00000384199.1:n.2210+117_2210+118insACTAA
ENST00000543555.5:c.2012+117_2012+118insACTAA	ENSP00000442697.1:n.2012+117_2012+118insACTAA
ENST00000610696.4:c.*606+117_*606+118insACTAA	ENSP00000483159.1:n.*606+117_*606+118insACTAA
ENST00000613514.4:c.*750+117_*750+118insACTAA	ENSP00000484137.1:n.*750+117_*750+118insACTAA
ENST00000617333.3:c.*976+117_*976+118insACTAA	ENSP00000482468.1:n.*976+117_*976+118insACTAA
ENST00000617938.4:c.*1182+117_*1182+118insACTAA	ENSP00000481158.1:n.*1182+117_*1182+118insACTAA
ENST00000621359.2:c.2210+117_2210+118insACTAA	ENSP00000481416.1:n.2210+117_2210+118insACTAA
NM_000251.2:c.2210+117_2210+118insACTAA , LRG_218t1:c.2210+117_2210+118insACTAA	NP_000242.1:n.2210+117_2210+118insACTAA
NM_001258281.1:c.2012+117_2012+118insACTAA	NP_001245210.1:n.2012+117_2012+118insACTAA
XM_005264332.2:c.2210+117_2210+118insACTAA	XP_005264389.2:n.2210+117_2210+118insACTAA
XM_011532867.1:c.2210+117_2210+118insACTAA	XP_011531169.1:n.2210+117_2210+118insACTAA
XR_939685.1:n.2282+117_2282+118insACTAA
XM_005264332.4:c.2210+117_2210+118insACTAA	XP_005264389.2:n.2210+117_2210+118insACTAA
XM_011532867.2:c.2210+117_2210+118insACTAA	XP_011531169.1:n.2210+117_2210+118insACTAA
XR_001738747.2:n.2272+117_2272+118insACTAA
XR_939685.2:n.2272+117_2272+118insACTAA
NM_000251.3:c.2210+117_2210+118insACTAA MANE Select	NP_000242.1:n.2210+117_2210+118insACTAA