Canonical Allele Identifier: CA10581059
Gene: CHEK2 HGNC NCBI

Linked Data

ClinVar Variation Id: 231952
ClinVar RCV Id: RCV000215454
dbSNP Id: rs876659458

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.28699883T>G , CM000684.2:g.28699883T>G GRCh38
NC_000022.10:g.29095871T>G , CM000684.1:g.29095871T>G GRCh37
NC_000022.9:g.27425871T>G NCBI36
NG_008150.1:g.46952A>C
NG_008150.2:g.46984A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000439346.6:c.872A>C ENSP00000396903.2:n.872A>C
ENST00000711048.1:c.963A>C ENSP00000518557.1:p.Glu321Asp
ENST00000402731.6:c.762A>C ENSP00000384835.2:p.Glu254Asp
ENST00000404276.6:c.963A>C MANE Select ENSP00000385747.1:p.Glu321Asp
ENST00000425190.7:c.300A>C ENSP00000390244.2:p.Glu100Asp
ENST00000464581.6:c.303A>C ENSP00000483777.2:p.Glu101Asp
ENST00000648295.1:n.515A>C
ENST00000649563.1:c.300A>C ENSP00000496928.1:p.Glu100Asp
ENST00000650281.1:c.963A>C ENSP00000497000.1:p.Glu321Asp
ENST00000328354.10:c.963A>C ENSP00000329178.6:p.Glu321Asp
ENST00000348295.7:c.963A>C ENSP00000329012.5:p.Glu321Asp
ENST00000382580.6:c.1092A>C ENSP00000372023.2:p.Glu364Asp
ENST00000402731.5:c.963A>C ENSP00000384835.1:p.Glu321Asp
ENST00000403642.5:c.690A>C ENSP00000384919.1:p.Glu230Asp
ENST00000404276.5:c.963A>C ENSP00000385747.1:p.Glu321Asp
ENST00000405598.5:c.963A>C ENSP00000386087.1:p.Glu321Asp
ENST00000416671.5:c.*453A>C ENSP00000402225.1:n.*453A>C
ENST00000417588.5:c.872A>C ENSP00000412901.1:n.872A>C
ENST00000425190.6:c.300A>C ENSP00000390244.1:p.Glu100Asp
ENST00000433028.6:c.*688A>C ENSP00000403659.1:n.*688A>C
ENST00000433728.5:c.901A>C ENSP00000404400.1:n.901A>C
ENST00000434810.5:c.194A>C
ENST00000439346.5:c.434A>C ENSP00000396903.1:n.434A>C
ENST00000447421.5:c.762A>C ENSP00000397478.2:p.Glu254Asp
ENST00000448511.5:c.853A>C ENSP00000404567.1:n.853A>C
ENST00000456369.5:c.218A>C
ENST00000464581.5:c.303A>C ENSP00000483777.1:p.Glu101Asp
ENST00000491919.5:n.520A>C
NM_001005735.1:c.1092A>C NP_001005735.1:p.Glu364Asp
NM_001257387.1:c.300A>C NP_001244316.1:p.Glu100Asp
NM_007194.3:c.963A>C NP_009125.1:p.Glu321Asp
NM_145862.2:c.963A>C NP_665861.1:p.Glu321Asp
XM_006724114.2:c.483A>C XP_006724177.1:p.Glu161Asp
XM_006724116.2:c.420A>C XP_006724179.2:p.Glu140Asp
XM_011529839.1:c.1122A>C XP_011528141.1:p.Glu374Asp
XM_011529840.1:c.1122A>C XP_011528142.1:p.Glu374Asp
XM_011529841.1:c.891A>C XP_011528143.1:p.Glu297Asp
XM_011529842.1:c.792A>C XP_011528144.1:p.Glu264Asp
XM_011529843.1:c.762A>C XP_011528145.1:p.Glu254Asp
XM_011529844.1:c.1122A>C XP_011528146.1:p.Glu374Asp
XM_011529845.1:c.300A>C XP_011528147.1:p.Glu100Asp
XR_937805.1:n.1122A>C
XR_937806.1:n.1117A>C
XR_937807.1:n.1117A>C
NM_001349956.1:c.762A>C NP_001336885.1:p.Glu254Asp
NM_007194.4:c.963A>C MANE Select NP_009125.1:p.Glu321Asp
XM_006724114.3:c.516A>C XP_006724177.2:p.Glu172Asp
XM_011529839.2:c.1122A>C XP_011528141.1:p.Glu374Asp
XM_011529840.3:c.1122A>C XP_011528142.1:p.Glu374Asp
XM_011529842.2:c.792A>C XP_011528144.1:p.Glu264Asp
XM_011529844.2:c.1122A>C XP_011528146.1:p.Glu374Asp
XM_011529845.2:c.300A>C XP_011528147.1:p.Glu100Asp
XM_017028560.1:c.1086A>C XP_016884049.1:p.Glu362Asp
XM_017028561.2:c.300A>C XP_016884050.1:p.Glu100Asp
XM_024452148.1:c.993A>C XP_024307916.1:p.Glu331Asp
XM_024452149.1:c.993A>C XP_024307917.1:p.Glu331Asp
XR_937805.2:n.1133A>C
XR_937806.2:n.1133A>C
XR_937807.2:n.1133A>C
NM_001005735.2:c.1092A>C NP_001005735.1:p.Glu364Asp
NM_001257387.2:c.300A>C NP_001244316.1:p.Glu100Asp
NM_001349956.2:c.762A>C NP_001336885.1:p.Glu254Asp