Canonical Allele Identifier: CA158099

Gene: CHEK2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28699893C>T , CM000684.2:g.28699893C>T	GRCh38
NC_000022.10:g.29095881C>T , CM000684.1:g.29095881C>T	GRCh37
NC_000022.9:g.27425881C>T	NCBI36
NG_008150.1:g.46942G>A
NG_008150.2:g.46974G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_007194.4:c.953G>A MANE Select	NP_009125.1:p.Arg318His
ENST00000404276.6:c.953G>A MANE Select	ENSP00000385747.1:p.Arg318His
NM_001005735.1:c.1082G>A	NP_001005735.1:p.Arg361His
NM_001005735.2:c.1082G>A	NP_001005735.1:p.Arg361His
NM_001257387.1:c.290G>A	NP_001244316.1:p.Arg97His
NM_001257387.2:c.290G>A	NP_001244316.1:p.Arg97His
NM_001349956.1:c.752G>A	NP_001336885.1:p.Arg251His
NM_001349956.2:c.752G>A	NP_001336885.1:p.Arg251His
NM_007194.3:c.953G>A	NP_009125.1:p.Arg318His
NM_145862.2:c.953G>A	NP_665861.1:p.Arg318His
ENST00000328354.10:c.953G>A	ENSP00000329178.6:p.Arg318His
ENST00000348295.7:c.953G>A	ENSP00000329012.5:p.Arg318His
ENST00000382580.6:c.1082G>A	ENSP00000372023.2:p.Arg361His
ENST00000402731.5:c.953G>A	ENSP00000384835.1:p.Arg318His
ENST00000402731.6:c.752G>A	ENSP00000384835.2:p.Arg251His
ENST00000403642.5:c.680G>A	ENSP00000384919.1:p.Arg227His
ENST00000404276.5:c.953G>A	ENSP00000385747.1:p.Arg318His
ENST00000405598.5:c.953G>A	ENSP00000386087.1:p.Arg318His
ENST00000416671.5:c.*443G>A	ENSP00000402225.1:n.*443G>A
ENST00000417588.5:c.862G>A	ENSP00000412901.1:n.862G>A
ENST00000425190.6:c.290G>A	ENSP00000390244.1:p.Arg97His
ENST00000425190.7:c.290G>A	ENSP00000390244.2:p.Arg97His
ENST00000433028.6:c.*678G>A	ENSP00000403659.1:n.*678G>A
ENST00000433728.5:c.891G>A	ENSP00000404400.1:n.891G>A
ENST00000434810.5:c.184G>A
ENST00000439346.5:c.424G>A	ENSP00000396903.1:n.424G>A
ENST00000439346.6:c.862G>A	ENSP00000396903.2:n.862G>A
ENST00000447421.5:c.752G>A	ENSP00000397478.2:p.Arg251His
ENST00000448511.5:c.843G>A	ENSP00000404567.1:n.843G>A
ENST00000456369.5:c.208G>A
ENST00000464581.5:c.293G>A	ENSP00000483777.1:p.Arg98His
ENST00000464581.6:c.293G>A	ENSP00000483777.2:p.Arg98His
ENST00000491919.5:n.510G>A
ENST00000648295.1:n.505G>A
ENST00000649563.1:c.290G>A	ENSP00000496928.1:p.Arg97His
ENST00000650281.1:c.953G>A	ENSP00000497000.1:p.Arg318His
ENST00000711048.1:c.953G>A	ENSP00000518557.1:p.Arg318His
XM_006724114.2:c.473G>A	XP_006724177.1:p.Arg158His
XM_006724114.3:c.506G>A	XP_006724177.2:p.Arg169His
XM_006724116.2:c.410G>A	XP_006724179.2:p.Arg137His
XM_011529839.1:c.1112G>A	XP_011528141.1:p.Arg371His
XM_011529839.2:c.1112G>A	XP_011528141.1:p.Arg371His
XM_011529840.1:c.1112G>A	XP_011528142.1:p.Arg371His
XM_011529840.3:c.1112G>A	XP_011528142.1:p.Arg371His
XM_011529841.1:c.881G>A	XP_011528143.1:p.Arg294His
XM_011529842.1:c.782G>A	XP_011528144.1:p.Arg261His
XM_011529842.2:c.782G>A	XP_011528144.1:p.Arg261His
XM_011529843.1:c.752G>A	XP_011528145.1:p.Arg251His
XM_011529844.1:c.1112G>A	XP_011528146.1:p.Arg371His
XM_011529844.2:c.1112G>A	XP_011528146.1:p.Arg371His
XM_011529845.1:c.290G>A	XP_011528147.1:p.Arg97His
XM_011529845.2:c.290G>A	XP_011528147.1:p.Arg97His
XM_017028560.1:c.1076G>A	XP_016884049.1:p.Arg359His
XM_017028561.2:c.290G>A	XP_016884050.1:p.Arg97His
XM_024452148.1:c.983G>A	XP_024307916.1:p.Arg328His
XM_024452149.1:c.983G>A	XP_024307917.1:p.Arg328His
XR_937805.1:n.1112G>A
XR_937805.2:n.1123G>A
XR_937806.1:n.1107G>A
XR_937806.2:n.1123G>A
XR_937807.1:n.1107G>A
XR_937807.2:n.1123G>A