Canonical Allele Identifier: CA3054217385

Gene: CHEK2

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28725104dup , CM000684.2:g.28725104dup	GRCh38
NC_000022.10:g.29121092dup , CM000684.1:g.29121092dup	GRCh37
NC_000022.9:g.27451092dup	NCBI36
NG_008150.1:g.21732dup
NG_008150.2:g.21764dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439346.6:c.466dup	ENSP00000396903.2:p.Tyr156LeufsTer30
ENST00000454252.2:c.*446dup	ENSP00000387451.2:n.*446dup
ENST00000711048.1:c.466dup	ENSP00000518557.1:p.Tyr156LeufsTer30
ENST00000398017.3:c.466dup	ENSP00000381099.3:p.Tyr156LeufsTer?
ENST00000402731.6:c.444+140dup	ENSP00000384835.2:n.444+140dup
ENST00000404276.6:c.466dup MANE Select	ENSP00000385747.1:p.Tyr156LeufsTer30
ENST00000425190.7:c.-198dup	ENSP00000390244.2:n.-198dup
ENST00000649563.1:c.-71-5618dup	ENSP00000496928.1:n.-71-5618dup
ENST00000650233.1:c.466dup	ENSP00000497699.1:p.Tyr156LeufsTer?
ENST00000650281.1:c.466dup	ENSP00000497000.1:p.Tyr156LeufsTer30
ENST00000328354.10:c.466dup	ENSP00000329178.6:p.Tyr156LeufsTer30
ENST00000348295.7:c.466dup	ENSP00000329012.5:p.Tyr156LeufsTer30
ENST00000382565.5:c.466dup	ENSP00000372006.2:p.Tyr156LeufsTer30
ENST00000382580.6:c.595dup	ENSP00000372023.2:p.Tyr199LeufsTer30
ENST00000398017.2:c.496dup	ENSP00000381099.2:p.Tyr166LeufsTer?
ENST00000402731.5:c.466dup	ENSP00000384835.1:p.Tyr156LeufsTer30
ENST00000403642.5:c.320-5618dup	ENSP00000384919.1:n.320-5618dup
ENST00000404276.5:c.466dup	ENSP00000385747.1:p.Tyr156LeufsTer30
ENST00000405598.5:c.466dup	ENSP00000386087.1:p.Tyr156LeufsTer30
ENST00000416671.5:c.466dup	ENSP00000402225.1:p.Tyr156LeufsTer30
ENST00000417588.5:c.466dup	ENSP00000412901.1:p.Tyr156LeufsTer30
ENST00000425190.6:c.-198dup	ENSP00000390244.1:n.-198dup
ENST00000433028.6:c.444+140dup	ENSP00000403659.1:n.444+140dup
ENST00000433728.5:c.466dup	ENSP00000404400.1:p.Tyr156LeufsTer30
ENST00000439200.5:c.559dup	ENSP00000408065.1:p.Tyr187LeufsTer30
ENST00000439346.5:c.28dup	ENSP00000396903.1:p.Tyr10LeufsTer30
ENST00000447421.5:c.444+140dup	ENSP00000397478.2:n.444+140dup
ENST00000448511.5:c.444+140dup	ENSP00000404567.1:n.444+140dup
ENST00000454252.1:c.584dup	ENSP00000387451.1:n.584dup
NM_001005735.1:c.595dup	NP_001005735.1:p.Tyr199LeufsTer30
NM_001257387.1:c.-312dup	NP_001244316.1:n.-312dup
NM_007194.3:c.466dup	NP_009125.1:p.Tyr156LeufsTer30
NM_145862.2:c.466dup	NP_665861.1:p.Tyr156LeufsTer30
XM_011529839.1:c.625dup	XP_011528141.1:p.Tyr209LeufsTer30
XM_011529840.1:c.625dup	XP_011528142.1:p.Tyr209LeufsTer30
XM_011529841.1:c.573+140dup	XP_011528143.1:n.573+140dup
XM_011529842.1:c.474+140dup	XP_011528144.1:n.474+140dup
XM_011529843.1:c.444+140dup	XP_011528145.1:n.444+140dup
XM_011529844.1:c.625dup	XP_011528146.1:p.Tyr209LeufsTer30
XM_011529845.1:c.-198dup	XP_011528147.1:n.-198dup
XR_937805.1:n.687dup
XR_937806.1:n.682dup
XR_937807.1:n.682dup
NM_001349956.1:c.444+140dup	NP_001336885.1:n.444+140dup
NM_007194.4:c.466dup MANE Select	NP_009125.1:p.Tyr156LeufsTer30
XM_011529839.2:c.625dup	XP_011528141.1:p.Tyr209LeufsTer30
XM_011529840.3:c.625dup	XP_011528142.1:p.Tyr209LeufsTer30
XM_011529842.2:c.474+140dup	XP_011528144.1:n.474+140dup
XM_011529844.2:c.625dup	XP_011528146.1:p.Tyr209LeufsTer30
XM_011529845.2:c.-198dup	XP_011528147.1:n.-198dup
XM_017028560.1:c.589dup	XP_016884049.1:p.Tyr197LeufsTer30
XM_024452148.1:c.496dup	XP_024307916.1:p.Tyr166LeufsTer30
XM_024452149.1:c.496dup	XP_024307917.1:p.Tyr166LeufsTer30
XR_937805.2:n.698dup
XR_937806.2:n.698dup
XR_937807.2:n.698dup
NM_001005735.2:c.595dup	NP_001005735.1:p.Tyr199LeufsTer30
NM_001257387.2:c.-312dup	NP_001244316.1:n.-312dup
NM_001349956.2:c.444+140dup	NP_001336885.1:n.444+140dup