Canonical Allele Identifier: CA2400237493

Gene: CHEK2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28694064T= , CM000684.2:g.28694064T=	GRCh38
NC_000022.10:g.29090052T= , CM000684.1:g.29090052T=	GRCh37
NC_000022.9:g.27420052T=	NCBI36
NG_008150.1:g.52771A=
NG_008150.2:g.52803A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.*164A=	ENSP00000518557.1:n.*164A=
ENST00000402731.6:c.1228A=	ENSP00000384835.2:p.Thr410=
ENST00000404276.6:c.1429A= MANE Select	ENSP00000385747.1:p.Thr477=
ENST00000425190.7:c.766A=	ENSP00000390244.2:p.Thr256=
ENST00000464581.6:c.769A=	ENSP00000483777.2:p.Thr257=
ENST00000648295.1:n.981A=
ENST00000649563.1:c.766A=	ENSP00000496928.1:p.Thr256=
ENST00000650281.1:c.1429A=	ENSP00000497000.1:p.Thr477=
ENST00000328354.10:c.1429A=	ENSP00000329178.6:p.Thr477=
ENST00000348295.7:c.1342A=	ENSP00000329012.5:p.Thr448=
ENST00000382580.6:c.1558A=	ENSP00000372023.2:p.Thr520=
ENST00000402731.5:c.1342A=	ENSP00000384835.1:p.Thr448=
ENST00000403642.5:c.1156A=	ENSP00000384919.1:p.Thr386=
ENST00000404276.5:c.1429A=	ENSP00000385747.1:p.Thr477=
ENST00000405598.5:c.1429A=	ENSP00000386087.1:p.Thr477=
ENST00000416671.5:c.*919A=	ENSP00000402225.1:n.*919A=
ENST00000417588.5:c.1338A=	ENSP00000412901.1:n.1338A=
ENST00000433728.5:c.1367A=	ENSP00000404400.1:n.1367A=
ENST00000434810.5:c.627A=
ENST00000448511.5:c.1319A=	ENSP00000404567.1:n.1319A=
ENST00000456369.5:c.264-4849A=
NM_001005735.1:c.1558A=	NP_001005735.1:p.Thr520=
NM_001257387.1:c.766A=	NP_001244316.1:p.Thr256=
NM_007194.3:c.1429A=	NP_009125.1:p.Thr477=
NM_145862.2:c.1342A=	NP_665861.1:p.Thr448=
XM_006724114.2:c.949A=	XP_006724177.1:p.Thr317=
XM_006724116.2:c.886A=	XP_006724179.2:p.Thr296=
XM_011529839.1:c.1588A=	XP_011528141.1:p.Thr530=
XM_011529840.1:c.1501A=	XP_011528142.1:p.Thr501=
XM_011529841.1:c.1357A=	XP_011528143.1:p.Thr453=
XM_011529842.1:c.1258A=	XP_011528144.1:p.Thr420=
XM_011529843.1:c.1228A=	XP_011528145.1:p.Thr410=
XM_011529845.1:c.766A=	XP_011528147.1:p.Thr256=
XR_937805.1:n.1588A=
NM_001349956.1:c.1228A=	NP_001336885.1:p.Thr410=
NM_007194.4:c.1429A= MANE Select	NP_009125.1:p.Thr477=
XM_006724114.3:c.982A=	XP_006724177.2:p.Thr328=
XM_011529839.2:c.1588A=	XP_011528141.1:p.Thr530=
XM_011529840.3:c.1501A=	XP_011528142.1:p.Thr501=
XM_011529842.2:c.1258A=	XP_011528144.1:p.Thr420=
XM_011529845.2:c.766A=	XP_011528147.1:p.Thr256=
XM_017028560.1:c.1552A=	XP_016884049.1:p.Thr518=
XM_017028561.2:c.766A=	XP_016884050.1:p.Thr256=
XM_024452148.1:c.1459A=	XP_024307916.1:p.Thr487=
XM_024452149.1:c.1372A=	XP_024307917.1:p.Thr458=
XR_937805.2:n.1599A=
NM_001005735.2:c.1558A=	NP_001005735.1:p.Thr520=
NM_001257387.2:c.766A=	NP_001244316.1:p.Thr256=
NM_001349956.2:c.1228A=	NP_001336885.1:p.Thr410=