Canonical Allele Identifier: CA752192557
Gene: CHEK2 HGNC NCBI

Linked Data

dbSNP Id: rs1346200065

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000439346.6:c.466del ENSP00000396903.2:p.Tyr156ThrfsTer5
ENST00000454252.2:c.*446del ENSP00000387451.2:n.*446del
ENST00000711048.1:c.466del ENSP00000518557.1:p.Tyr156ThrfsTer5
ENST00000398017.3:c.466del ENSP00000381099.3:p.Tyr156ThrfsTer5
ENST00000402731.6:c.444+140del ENSP00000384835.2:n.444+140del
ENST00000404276.6:c.466del MANE Select ENSP00000385747.1:p.Tyr156ThrfsTer5
ENST00000425190.7:c.-198del ENSP00000390244.2:n.-198del
ENST00000649563.1:c.-71-5618del ENSP00000496928.1:n.-71-5618del
ENST00000650233.1:c.466del ENSP00000497699.1:p.Tyr156ThrfsTer5
ENST00000650281.1:c.466del ENSP00000497000.1:p.Tyr156ThrfsTer5
ENST00000328354.10:c.466del ENSP00000329178.6:p.Tyr156ThrfsTer5
ENST00000348295.7:c.466del ENSP00000329012.5:p.Tyr156ThrfsTer5
ENST00000382565.5:c.466del ENSP00000372006.2:p.Tyr156ThrfsTer5
ENST00000382580.6:c.595del ENSP00000372023.2:p.Tyr199ThrfsTer5
ENST00000398017.2:c.496del ENSP00000381099.2:p.Tyr166ThrfsTer5
ENST00000402731.5:c.466del ENSP00000384835.1:p.Tyr156ThrfsTer5
ENST00000403642.5:c.320-5618del ENSP00000384919.1:n.320-5618del
ENST00000404276.5:c.466del ENSP00000385747.1:p.Tyr156ThrfsTer5
ENST00000405598.5:c.466del ENSP00000386087.1:p.Tyr156ThrfsTer5
ENST00000416671.5:c.466del ENSP00000402225.1:p.Tyr156ThrfsTer5
ENST00000417588.5:c.466del ENSP00000412901.1:p.Tyr156ThrfsTer5
ENST00000425190.6:c.-198del ENSP00000390244.1:n.-198del
ENST00000433028.6:c.444+140del ENSP00000403659.1:n.444+140del
ENST00000433728.5:c.466del ENSP00000404400.1:p.Tyr156ThrfsTer5
ENST00000439200.5:c.559del ENSP00000408065.1:p.Tyr187ThrfsTer5
ENST00000439346.5:c.28del ENSP00000396903.1:p.Tyr10ThrfsTer5
ENST00000447421.5:c.444+140del ENSP00000397478.2:n.444+140del
ENST00000448511.5:c.444+140del ENSP00000404567.1:n.444+140del
ENST00000454252.1:c.584del ENSP00000387451.1:n.584del
NM_001005735.1:c.595del NP_001005735.1:p.Tyr199ThrfsTer5
NM_001257387.1:c.-312del NP_001244316.1:n.-312del
NM_007194.3:c.466del NP_009125.1:p.Tyr156ThrfsTer5
NM_145862.2:c.466del NP_665861.1:p.Tyr156ThrfsTer5
XM_011529839.1:c.625del XP_011528141.1:p.Tyr209ThrfsTer5
XM_011529840.1:c.625del XP_011528142.1:p.Tyr209ThrfsTer5
XM_011529841.1:c.573+140del XP_011528143.1:n.573+140del
XM_011529842.1:c.474+140del XP_011528144.1:n.474+140del
XM_011529843.1:c.444+140del XP_011528145.1:n.444+140del
XM_011529844.1:c.625del XP_011528146.1:p.Tyr209ThrfsTer5
XM_011529845.1:c.-198del XP_011528147.1:n.-198del
XR_937805.1:n.687del
XR_937806.1:n.682del
XR_937807.1:n.682del
NM_001349956.1:c.444+140del NP_001336885.1:n.444+140del
NM_007194.4:c.466del MANE Select NP_009125.1:p.Tyr156ThrfsTer5
XM_011529839.2:c.625del XP_011528141.1:p.Tyr209ThrfsTer5
XM_011529840.3:c.625del XP_011528142.1:p.Tyr209ThrfsTer5
XM_011529842.2:c.474+140del XP_011528144.1:n.474+140del
XM_011529844.2:c.625del XP_011528146.1:p.Tyr209ThrfsTer5
XM_011529845.2:c.-198del XP_011528147.1:n.-198del
XM_017028560.1:c.589del XP_016884049.1:p.Tyr197ThrfsTer5
XM_024452148.1:c.496del XP_024307916.1:p.Tyr166ThrfsTer5
XM_024452149.1:c.496del XP_024307917.1:p.Tyr166ThrfsTer5
XR_937805.2:n.698del
XR_937806.2:n.698del
XR_937807.2:n.698del
NM_001005735.2:c.595del NP_001005735.1:p.Tyr199ThrfsTer5
NM_001257387.2:c.-312del NP_001244316.1:n.-312del
NM_001349956.2:c.444+140del NP_001336885.1:n.444+140del