Canonical Allele Identifier: CA2658948456

Gene: MSH2

Linked Data

• gnomAD v4: 2-47476653-A-AGATGTTTTTACATGAGAATC

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47476653_47476654insGATGTTTTTACATGAGAATC , CM000664.2:g.47476653_47476654insGATGTTTTTACATGAGAATC	GRCh38
NC_000002.11:g.47703792_47703793insGATGTTTTTACATGAGAATC , CM000664.1:g.47703792_47703793insGATGTTTTTACATGAGAATC	GRCh37
NC_000002.10:g.47557296_47557297insGATGTTTTTACATGAGAATC	NCBI36
NG_007110.2:g.78530_78531insGATGTTTTTACATGAGAATC , LRG_218:g.78530_78531insGATGTTTTTACATGAGAATC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2210+82_2210+83insGATGTTTTTACATGAGAATC	ENSP00000495641.2:n.2210+82_2210+83insGATGTTTTTACATGAGAATC
ENST00000233146.7:c.2210+82_2210+83insGATGTTTTTACATGAGAATC MANE Select	ENSP00000233146.2:n.2210+82_2210+83insGATGTTTTTACATGAGAATC
ENST00000543555.6:c.2012+82_2012+83insGATGTTTTTACATGAGAATC	ENSP00000442697.1:n.2012+82_2012+83insGATGTTTTTACATGAGAATC
ENST00000644092.1:c.*510+82_*510+83insGATGTTTTTACATGAGAATC	ENSP00000496351.1:n.*510+82_*510+83insGATGTTTTTACATGAGAATC
ENST00000644900.1:c.63+82_63+83insGATGTTTTTACATGAGAATC
ENST00000645339.1:c.2210+82_2210+83insGATGTTTTTACATGAGAATC	ENSP00000496441.1:n.2210+82_2210+83insGATGTTTTTACATGAGAATC
ENST00000645506.1:c.2210+82_2210+83insGATGTTTTTACATGAGAATC	ENSP00000495455.1:n.2210+82_2210+83insGATGTTTTTACATGAGAATC
ENST00000646415.1:c.2210+82_2210+83insGATGTTTTTACATGAGAATC	ENSP00000495543.1:n.2210+82_2210+83insGATGTTTTTACATGAGAATC
ENST00000233146.6:c.2210+82_2210+83insGATGTTTTTACATGAGAATC	ENSP00000233146.2:n.2210+82_2210+83insGATGTTTTTACATGAGAATC
ENST00000406134.5:c.2210+82_2210+83insGATGTTTTTACATGAGAATC	ENSP00000384199.1:n.2210+82_2210+83insGATGTTTTTACATGAGAATC
ENST00000543555.5:c.2012+82_2012+83insGATGTTTTTACATGAGAATC	ENSP00000442697.1:n.2012+82_2012+83insGATGTTTTTACATGAGAATC
ENST00000610696.4:c.*606+82_*606+83insGATGTTTTTACATGAGAATC	ENSP00000483159.1:n.*606+82_*606+83insGATGTTTTTACATGAGAATC
ENST00000613514.4:c.*750+82_*750+83insGATGTTTTTACATGAGAATC	ENSP00000484137.1:n.*750+82_*750+83insGATGTTTTTACATGAGAATC
ENST00000617333.3:c.*976+82_*976+83insGATGTTTTTACATGAGAATC	ENSP00000482468.1:n.*976+82_*976+83insGATGTTTTTACATGAGAATC
ENST00000617938.4:c.*1182+82_*1182+83insGATGTTTTTACATGAGAATC	ENSP00000481158.1:n.*1182+82_*1182+83insGATGTTTTTACATGAGAATC
ENST00000621359.2:c.2210+82_2210+83insGATGTTTTTACATGAGAATC	ENSP00000481416.1:n.2210+82_2210+83insGATGTTTTTACATGAGAATC
NM_000251.2:c.2210+82_2210+83insGATGTTTTTACATGAGAATC , LRG_218t1:c.2210+82_2210+83insGATGTTTTTACATGAGAATC	NP_000242.1:n.2210+82_2210+83insGATGTTTTTACATGAGAATC
NM_001258281.1:c.2012+82_2012+83insGATGTTTTTACATGAGAATC	NP_001245210.1:n.2012+82_2012+83insGATGTTTTTACATGAGAATC
XM_005264332.2:c.2210+82_2210+83insGATGTTTTTACATGAGAATC	XP_005264389.2:n.2210+82_2210+83insGATGTTTTTACATGAGAATC
XM_011532867.1:c.2210+82_2210+83insGATGTTTTTACATGAGAATC	XP_011531169.1:n.2210+82_2210+83insGATGTTTTTACATGAGAATC
XR_939685.1:n.2282+82_2282+83insGATGTTTTTACATGAGAATC
XM_005264332.4:c.2210+82_2210+83insGATGTTTTTACATGAGAATC	XP_005264389.2:n.2210+82_2210+83insGATGTTTTTACATGAGAATC
XM_011532867.2:c.2210+82_2210+83insGATGTTTTTACATGAGAATC	XP_011531169.1:n.2210+82_2210+83insGATGTTTTTACATGAGAATC
XR_001738747.2:n.2272+82_2272+83insGATGTTTTTACATGAGAATC
XR_939685.2:n.2272+82_2272+83insGATGTTTTTACATGAGAATC
NM_000251.3:c.2210+82_2210+83insGATGTTTTTACATGAGAATC MANE Select	NP_000242.1:n.2210+82_2210+83insGATGTTTTTACATGAGAATC