Canonical Allele Identifier: CA2582342818

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 2583346
• ClinVar RCV Id: RCV003337017

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28699929_28699930dup , CM000684.2:g.28699929_28699930dup	GRCh38
NC_000022.10:g.29095917_29095918dup , CM000684.1:g.29095917_29095918dup	GRCh37
NC_000022.9:g.27425917_27425918dup	NCBI36
NG_008150.1:g.46908_46909dup
NG_008150.2:g.46940_46941dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439346.6:c.828_829dup	ENSP00000396903.2:n.828_829dup
ENST00000711048.1:c.919_920dup	ENSP00000518557.1:p.Leu309SerfsTer12
ENST00000402731.6:c.718_719dup	ENSP00000384835.2:p.Leu242SerfsTer12
ENST00000404276.6:c.919_920dup MANE Select	ENSP00000385747.1:p.Leu309SerfsTer12
ENST00000425190.7:c.256_257dup	ENSP00000390244.2:p.Leu88SerfsTer12
ENST00000464581.6:c.259_260dup	ENSP00000483777.2:p.Leu89SerfsTer12
ENST00000648295.1:n.471_472dup
ENST00000649563.1:c.256_257dup	ENSP00000496928.1:p.Leu88SerfsTer12
ENST00000650281.1:c.919_920dup	ENSP00000497000.1:p.Leu309SerfsTer12
ENST00000328354.10:c.919_920dup	ENSP00000329178.6:p.Leu309SerfsTer12
ENST00000348295.7:c.919_920dup	ENSP00000329012.5:p.Leu309SerfsTer12
ENST00000382580.6:c.1048_1049dup	ENSP00000372023.2:p.Leu352SerfsTer12
ENST00000402731.5:c.919_920dup	ENSP00000384835.1:p.Leu309SerfsTer12
ENST00000403642.5:c.646_647dup	ENSP00000384919.1:p.Leu218SerfsTer12
ENST00000404276.5:c.919_920dup	ENSP00000385747.1:p.Leu309SerfsTer12
ENST00000405598.5:c.919_920dup	ENSP00000386087.1:p.Leu309SerfsTer12
ENST00000416671.5:c.*409_*410dup	ENSP00000402225.1:n.*409_*410dup
ENST00000417588.5:c.828_829dup	ENSP00000412901.1:n.828_829dup
ENST00000425190.6:c.256_257dup	ENSP00000390244.1:p.Leu88SerfsTer12
ENST00000433028.6:c.*644_*645dup	ENSP00000403659.1:n.*644_*645dup
ENST00000433728.5:c.857_858dup	ENSP00000404400.1:p.Arg287GlyfsTer?
ENST00000434810.5:c.150_151dup
ENST00000439346.5:c.390_391dup	ENSP00000396903.1:n.390_391dup
ENST00000447421.5:c.718_719dup	ENSP00000397478.2:p.Leu242SerfsTer12
ENST00000448511.5:c.809_810dup	ENSP00000404567.1:n.809_810dup
ENST00000456369.5:c.174_175dup
ENST00000464581.5:c.259_260dup	ENSP00000483777.1:p.Leu89SerfsTer12
ENST00000491919.5:n.476_477dup
NM_001005735.1:c.1048_1049dup	NP_001005735.1:p.Leu352SerfsTer12
NM_001257387.1:c.256_257dup	NP_001244316.1:p.Leu88SerfsTer12
NM_007194.3:c.919_920dup	NP_009125.1:p.Leu309SerfsTer12
NM_145862.2:c.919_920dup	NP_665861.1:p.Leu309SerfsTer12
XM_006724114.2:c.439_440dup	XP_006724177.1:p.Leu149SerfsTer12
XM_006724116.2:c.376_377dup	XP_006724179.2:p.Leu128SerfsTer12
XM_011529839.1:c.1078_1079dup	XP_011528141.1:p.Leu362SerfsTer12
XM_011529840.1:c.1078_1079dup	XP_011528142.1:p.Leu362SerfsTer12
XM_011529841.1:c.847_848dup	XP_011528143.1:p.Leu285SerfsTer12
XM_011529842.1:c.748_749dup	XP_011528144.1:p.Leu252SerfsTer12
XM_011529843.1:c.718_719dup	XP_011528145.1:p.Leu242SerfsTer12
XM_011529844.1:c.1078_1079dup	XP_011528146.1:p.Leu362SerfsTer12
XM_011529845.1:c.256_257dup	XP_011528147.1:p.Leu88SerfsTer12
XR_937805.1:n.1078_1079dup
XR_937806.1:n.1073_1074dup
XR_937807.1:n.1073_1074dup
NM_001349956.1:c.718_719dup	NP_001336885.1:p.Leu242SerfsTer12
NM_007194.4:c.919_920dup MANE Select	NP_009125.1:p.Leu309SerfsTer12
XM_006724114.3:c.472_473dup	XP_006724177.2:p.Leu160SerfsTer12
XM_011529839.2:c.1078_1079dup	XP_011528141.1:p.Leu362SerfsTer12
XM_011529840.3:c.1078_1079dup	XP_011528142.1:p.Leu362SerfsTer12
XM_011529842.2:c.748_749dup	XP_011528144.1:p.Leu252SerfsTer12
XM_011529844.2:c.1078_1079dup	XP_011528146.1:p.Leu362SerfsTer12
XM_011529845.2:c.256_257dup	XP_011528147.1:p.Leu88SerfsTer12
XM_017028560.1:c.1042_1043dup	XP_016884049.1:p.Leu350SerfsTer12
XM_017028561.2:c.256_257dup	XP_016884050.1:p.Leu88SerfsTer12
XM_024452148.1:c.949_950dup	XP_024307916.1:p.Leu319SerfsTer12
XM_024452149.1:c.949_950dup	XP_024307917.1:p.Leu319SerfsTer12
XR_937805.2:n.1089_1090dup
XR_937806.2:n.1089_1090dup
XR_937807.2:n.1089_1090dup
NM_001005735.2:c.1048_1049dup	NP_001005735.1:p.Leu352SerfsTer12
NM_001257387.2:c.256_257dup	NP_001244316.1:p.Leu88SerfsTer12
NM_001349956.2:c.718_719dup	NP_001336885.1:p.Leu242SerfsTer12