Canonical Allele Identifier: CA288298
Gene: CHEK2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 128068
dbSNP Id: rs141568342

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.28734532C>T , CM000684.2:g.28734532C>T GRCh38
NC_000022.9:g.27460520C>T NCBI36
NC_000022.10:g.29130520C>T , CM000684.1:g.29130520C>T GRCh37
NG_008150.1:g.12303G>A
NG_008150.2:g.12335G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000328354.10:c.190G>A ENSP00000329178.6:p.Glu64Lys
ENST00000348295.7:c.190G>A ENSP00000329012.5:p.Glu64Lys
ENST00000382565.5:c.190G>A ENSP00000372006.2:p.Glu64Lys
ENST00000382580.6:c.190G>A ENSP00000372023.2:p.Glu64Lys
ENST00000398017.2:c.220G>A ENSP00000381099.2:p.Glu74Lys
ENST00000402731.5:n.190G>A ENSP00000384835.1:p.Glu64Lys
ENST00000403642.5:n.190G>A ENSP00000384919.1:p.Glu64Lys
ENST00000404276.5:n.190G>A ENSP00000385747.1:p.Glu64Lys
ENST00000405598.5:c.190G>A ENSP00000386087.1:p.Glu64Lys
ENST00000416671.5:c.190G>A ENSP00000402225.1:p.Glu64Lys
ENST00000417588.5:n.190G>A ENSP00000412901.1:p.Glu64Lys
ENST00000425190.6:c.-345+7237G>A ENSP00000390244.1:p.=
ENST00000433028.6:c.190G>A ENSP00000403659.1:p.Glu64Lys
ENST00000433728.5:n.190G>A ENSP00000404400.1:p.Glu64Lys
ENST00000439200.5:c.190G>A ENSP00000408065.1:p.Glu64Lys
ENST00000447421.5:c.190G>A ENSP00000397478.2:p.Glu64Lys
ENST00000448511.5:n.190G>A ENSP00000404567.1:p.Glu64Lys
NM_001005735.1:c.190G>A VV NP_001005735.1:p.Glu64Lys
NM_001257387.1:c.-588G>A VV NP_001244316.1:p.=
NM_007194.3:c.190G>A VV NP_009125.1:p.Glu64Lys
NM_145862.2:c.190G>A VV NP_665861.1:p.Glu64Lys
XM_011529839.1:n.220G>A XP_011528141.1:p.Glu74Lys
XM_011529840.1:c.220G>A XP_011528142.1:p.Glu74Lys
XM_011529841.1:c.190G>A XP_011528143.1:p.Glu64Lys
XM_011529842.1:n.220G>A XP_011528144.1:p.Glu74Lys
XM_011529843.1:c.190G>A XP_011528145.1:p.Glu64Lys
XM_011529844.1:c.220G>A XP_011528146.1:p.Glu74Lys
XM_011529845.1:c.-345+7237G>A XP_011528147.1:p.=
XR_937805.1:n.282G>A
XR_937806.1:n.277G>A
XR_937807.1:n.277G>A
NM_001349956.1:c.190G>A VV NP_001336885.1:p.Glu64Lys
NM_007194.4:c.190G>A VV
XM_011529839.2:c.220G>A
XM_011529840.3:c.220G>A
XM_011529842.2:c.220G>A
XM_011529844.2:c.220G>A
XM_011529845.2:c.-345+7237G>A
XM_017028560.1:c.220G>A XP_016884049.1:p.Glu74Lys
XM_024452148.1:c.220G>A XP_024307916.1:p.Glu74Lys
XM_024452149.1:c.220G>A XP_024307917.1:p.Glu74Lys
XR_937805.2:n.293G>A
XR_937806.2:n.293G>A
XR_937807.2:n.293G>A