Canonical Allele Identifier: CA915952737
Gene: CHEK2 HGNC NCBI

Linked Data

ClinVar Variation Id: 825072
dbSNP Id: rs1601824130

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.28725102_28725105del , CM000684.2:g.28725102_28725105del GRCh38
NC_000022.10:g.29121090_29121093del , CM000684.1:g.29121090_29121093del GRCh37
NC_000022.9:g.27451090_27451093del NCBI36
NG_008150.1:g.21731_21734del
NG_008150.2:g.21763_21766del

Transcript Alleles

HGVS Amino-acid Change
ENST00000439346.6:c.465_468del ENSP00000396903.2:p.Tyr156LeufsTer4
ENST00000454252.2:c.*445_*448del ENSP00000387451.2:n.*445_*448del
ENST00000711048.1:c.465_468del ENSP00000518557.1:p.Tyr156LeufsTer4
ENST00000398017.3:c.465_468del ENSP00000381099.3:p.Tyr156LeufsTer4
ENST00000402731.6:c.444+139_444+142del ENSP00000384835.2:n.444+139_444+142del
ENST00000404276.6:c.465_468del MANE Select ENSP00000385747.1:p.Tyr156LeufsTer4
ENST00000425190.7:c.-199_-196del ENSP00000390244.2:n.-199_-196del
ENST00000649563.1:c.-71-5619_-71-5616del ENSP00000496928.1:n.-71-5619_-71-5616del
ENST00000650233.1:c.465_468del ENSP00000497699.1:p.Tyr156LeufsTer4
ENST00000650281.1:c.465_468del ENSP00000497000.1:p.Tyr156LeufsTer4
ENST00000328354.10:c.465_468del ENSP00000329178.6:p.Tyr156LeufsTer4
ENST00000348295.7:c.465_468del ENSP00000329012.5:p.Tyr156LeufsTer4
ENST00000382565.5:c.465_468del ENSP00000372006.2:p.Tyr156LeufsTer4
ENST00000382580.6:c.594_597del ENSP00000372023.2:p.Tyr199LeufsTer4
ENST00000398017.2:c.495_498del ENSP00000381099.2:p.Tyr166LeufsTer4
ENST00000402731.5:c.465_468del ENSP00000384835.1:p.Tyr156LeufsTer4
ENST00000403642.5:c.320-5619_320-5616del ENSP00000384919.1:n.320-5619_320-5616del
ENST00000404276.5:c.465_468del ENSP00000385747.1:p.Tyr156LeufsTer4
ENST00000405598.5:c.465_468del ENSP00000386087.1:p.Tyr156LeufsTer4
ENST00000416671.5:c.465_468del ENSP00000402225.1:p.Tyr156LeufsTer4
ENST00000417588.5:c.465_468del ENSP00000412901.1:p.Tyr156LeufsTer4
ENST00000425190.6:c.-199_-196del ENSP00000390244.1:n.-199_-196del
ENST00000433028.6:c.444+139_444+142del ENSP00000403659.1:n.444+139_444+142del
ENST00000433728.5:c.465_468del ENSP00000404400.1:p.Tyr156LeufsTer4
ENST00000439200.5:c.558_561del ENSP00000408065.1:p.Tyr187LeufsTer4
ENST00000439346.5:c.27_30del ENSP00000396903.1:p.Tyr10LeufsTer4
ENST00000447421.5:c.444+139_444+142del ENSP00000397478.2:n.444+139_444+142del
ENST00000448511.5:c.444+139_444+142del ENSP00000404567.1:n.444+139_444+142del
ENST00000454252.1:c.583_586del ENSP00000387451.1:n.583_586del
NM_001005735.1:c.594_597del NP_001005735.1:p.Tyr199LeufsTer4
NM_001257387.1:c.-313_-310del NP_001244316.1:n.-313_-310del
NM_007194.3:c.465_468del NP_009125.1:p.Tyr156LeufsTer4
NM_145862.2:c.465_468del NP_665861.1:p.Tyr156LeufsTer4
XM_011529839.1:c.624_627del XP_011528141.1:p.Tyr209LeufsTer4
XM_011529840.1:c.624_627del XP_011528142.1:p.Tyr209LeufsTer4
XM_011529841.1:c.573+139_573+142del XP_011528143.1:n.573+139_573+142del
XM_011529842.1:c.474+139_474+142del XP_011528144.1:n.474+139_474+142del
XM_011529843.1:c.444+139_444+142del XP_011528145.1:n.444+139_444+142del
XM_011529844.1:c.624_627del XP_011528146.1:p.Tyr209LeufsTer4
XM_011529845.1:c.-199_-196del XP_011528147.1:n.-199_-196del
XR_937805.1:n.686_689del
XR_937806.1:n.681_684del
XR_937807.1:n.681_684del
NM_001349956.1:c.444+139_444+142del NP_001336885.1:n.444+139_444+142del
NM_007194.4:c.465_468del MANE Select NP_009125.1:p.Tyr156LeufsTer4
XM_011529839.2:c.624_627del XP_011528141.1:p.Tyr209LeufsTer4
XM_011529840.3:c.624_627del XP_011528142.1:p.Tyr209LeufsTer4
XM_011529842.2:c.474+139_474+142del XP_011528144.1:n.474+139_474+142del
XM_011529844.2:c.624_627del XP_011528146.1:p.Tyr209LeufsTer4
XM_011529845.2:c.-199_-196del XP_011528147.1:n.-199_-196del
XM_017028560.1:c.588_591del XP_016884049.1:p.Tyr197LeufsTer4
XM_024452148.1:c.495_498del XP_024307916.1:p.Tyr166LeufsTer4
XM_024452149.1:c.495_498del XP_024307917.1:p.Tyr166LeufsTer4
XR_937805.2:n.697_700del
XR_937806.2:n.697_700del
XR_937807.2:n.697_700del
NM_001005735.2:c.594_597del NP_001005735.1:p.Tyr199LeufsTer4
NM_001257387.2:c.-313_-310del NP_001244316.1:n.-313_-310del
NM_001349956.2:c.444+139_444+142del NP_001336885.1:n.444+139_444+142del