Canonical Allele Identifier: CA2400246009

Gene: CHEK2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28711986C= , CM000684.2:g.28711986C=	GRCh38
NC_000022.10:g.29107974C= , CM000684.1:g.29107974C=	GRCh37
NC_000022.9:g.27437974C=	NCBI36
NG_008150.1:g.34849G=
NG_008150.2:g.34881G=

Transcript Alleles

HGVS	Amino-acid Change
NM_007194.4:c.715G= MANE Select	NP_009125.1:p.Glu239=
ENST00000404276.6:c.715G= MANE Select	ENSP00000385747.1:p.Glu239=
NM_001005735.1:c.844G=	NP_001005735.1:p.Glu282=
NM_001005735.2:c.844G=	NP_001005735.1:p.Glu282=
NM_001257387.1:c.52G=	NP_001244316.1:p.Glu18=
NM_001257387.2:c.52G=	NP_001244316.1:p.Glu18=
NM_001349956.1:c.514G=	NP_001336885.1:p.Glu172=
NM_001349956.2:c.514G=	NP_001336885.1:p.Glu172=
NM_007194.3:c.715G=	NP_009125.1:p.Glu239=
NM_145862.2:c.715G=	NP_665861.1:p.Glu239=
ENST00000328354.10:c.715G=	ENSP00000329178.6:p.Glu239=
ENST00000348295.7:c.715G=	ENSP00000329012.5:p.Glu239=
ENST00000382580.6:c.844G=	ENSP00000372023.2:p.Glu282=
ENST00000402731.5:c.715G=	ENSP00000384835.1:p.Glu239=
ENST00000402731.6:c.514G=	ENSP00000384835.2:p.Glu172=
ENST00000403642.5:c.442G=	ENSP00000384919.1:p.Glu148=
ENST00000404276.5:c.715G=	ENSP00000385747.1:p.Glu239=
ENST00000405598.5:c.715G=	ENSP00000386087.1:p.Glu239=
ENST00000416671.5:c.*205G=	ENSP00000402225.1:n.*205G=
ENST00000417588.5:c.624G=	ENSP00000412901.1:n.624G=
ENST00000425190.6:c.52G=	ENSP00000390244.1:p.Glu18=
ENST00000425190.7:c.52G=	ENSP00000390244.2:p.Glu18=
ENST00000433028.6:c.*440G=	ENSP00000403659.1:n.*440G=
ENST00000433728.5:c.715G=	ENSP00000404400.1:p.Glu239=
ENST00000439200.5:c.808G=	ENSP00000408065.1:p.Glu270=
ENST00000439346.5:c.186G=	ENSP00000396903.1:n.186G=
ENST00000439346.6:c.624G=	ENSP00000396903.2:n.624G=
ENST00000447421.5:c.514G=	ENSP00000397478.2:p.Glu172=
ENST00000448511.5:c.605G=	ENSP00000404567.1:n.605G=
ENST00000464581.5:c.55G=	ENSP00000483777.1:p.Glu19=
ENST00000464581.6:c.55G=	ENSP00000483777.2:p.Glu19=
ENST00000491919.5:n.272G=
ENST00000648295.1:n.267G=
ENST00000649563.1:c.52G=	ENSP00000496928.1:p.Glu18=
ENST00000650281.1:c.715G=	ENSP00000497000.1:p.Glu239=
ENST00000711048.1:c.715G=	ENSP00000518557.1:p.Glu239=
XM_006724114.2:c.235G=	XP_006724177.1:p.Glu79=
XM_006724114.3:c.268G=	XP_006724177.2:p.Glu90=
XM_006724116.2:c.172G=	XP_006724179.2:p.Glu58=
XM_011529839.1:c.874G=	XP_011528141.1:p.Glu292=
XM_011529839.2:c.874G=	XP_011528141.1:p.Glu292=
XM_011529840.1:c.874G=	XP_011528142.1:p.Glu292=
XM_011529840.3:c.874G=	XP_011528142.1:p.Glu292=
XM_011529841.1:c.643G=	XP_011528143.1:p.Glu215=
XM_011529842.1:c.544G=	XP_011528144.1:p.Glu182=
XM_011529842.2:c.544G=	XP_011528144.1:p.Glu182=
XM_011529843.1:c.514G=	XP_011528145.1:p.Glu172=
XM_011529844.1:c.874G=	XP_011528146.1:p.Glu292=
XM_011529844.2:c.874G=	XP_011528146.1:p.Glu292=
XM_011529845.1:c.52G=	XP_011528147.1:p.Glu18=
XM_011529845.2:c.52G=	XP_011528147.1:p.Glu18=
XM_017028560.1:c.838G=	XP_016884049.1:p.Glu280=
XM_017028561.2:c.52G=	XP_016884050.1:p.Glu18=
XM_024452148.1:c.745G=	XP_024307916.1:p.Glu249=
XM_024452149.1:c.745G=	XP_024307917.1:p.Glu249=
XR_937805.1:n.936G=
XR_937805.2:n.947G=
XR_937806.1:n.931G=
XR_937806.2:n.947G=
XR_937807.1:n.931G=
XR_937807.2:n.947G=