Canonical Allele Identifier: CA167507
Gene: CHEK2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 142139
dbSNP Id: rs1805129

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.28734470T>C , CM000684.2:g.28734470T>C GRCh38
NC_000022.10:g.29130458T>C , CM000684.1:g.29130458T>C GRCh37
NC_000022.9:g.27460458T>C NCBI36
NG_008150.1:g.12365A>G
NG_008150.2:g.12397A>G

Transcript Alleles

HGVS Amino-acid change
NM_001005735.1:c.252A>G VV NP_001005735.1:p.Glu84=
NM_001257387.1:c.-526A>G VV NP_001244316.1:p.=
NM_007194.3:c.252A>G VV NP_009125.1:p.Glu84=
NM_145862.2:c.252A>G VV NP_665861.1:p.Glu84=
XM_011529839.1:n.282A>G XP_011528141.1:p.Glu94=
XM_011529840.1:c.282A>G XP_011528142.1:p.Glu94=
XM_011529841.1:c.252A>G XP_011528143.1:p.Glu84=
XM_011529842.1:n.282A>G XP_011528144.1:p.Glu94=
XM_011529843.1:c.252A>G XP_011528145.1:p.Glu84=
XM_011529844.1:c.282A>G XP_011528146.1:p.Glu94=
XM_011529845.1:c.-345+7299A>G XP_011528147.1:p.=
XR_937805.1:n.344A>G
XR_937806.1:n.339A>G
XR_937807.1:n.339A>G
NM_001349956.1:c.252A>G VV NP_001336885.1:p.Glu84=
NM_007194.4:c.252A>G VV MANE Preferred NP_009125.1:p.Glu84=
XM_011529839.2:c.282A>G XP_011528141.1:p.Glu94=
XM_011529840.3:c.282A>G XP_011528142.1:p.Glu94=
XM_011529842.2:c.282A>G XP_011528144.1:p.Glu94=
XM_011529844.2:c.282A>G XP_011528146.1:p.Glu94=
XM_011529845.2:c.-345+7299A>G XP_011528147.1:p.=
XM_017028560.1:c.282A>G XP_016884049.1:p.Glu94=
XM_024452148.1:c.282A>G XP_024307916.1:p.Glu94=
XM_024452149.1:c.282A>G XP_024307917.1:p.Glu94=
XR_937805.2:n.355A>G
XR_937806.2:n.355A>G
XR_937807.2:n.355A>G
ENST00000328354.10:c.252A>G ENSP00000329178.6:p.Glu84=
ENST00000348295.7:c.252A>G ENSP00000329012.5:p.Glu84=
ENST00000382565.5:c.252A>G ENSP00000372006.2:p.Glu84=
ENST00000382580.6:c.252A>G ENSP00000372023.2:p.Glu84=
ENST00000398017.2:c.282A>G ENSP00000381099.2:p.Glu94=
ENST00000402731.5:n.252A>G ENSP00000384835.1:p.Glu84=
ENST00000403642.5:n.252A>G ENSP00000384919.1:p.Glu84=
ENST00000404276.5:n.252A>G ENSP00000385747.1:p.Glu84=
ENST00000405598.5:c.252A>G ENSP00000386087.1:p.Glu84=
ENST00000416671.5:c.252A>G ENSP00000402225.1:p.Glu84=
ENST00000417588.5:n.252A>G ENSP00000412901.1:p.Glu84=
ENST00000425190.6:c.-345+7299A>G ENSP00000390244.1:p.=
ENST00000433028.6:c.252A>G ENSP00000403659.1:p.Glu84=
ENST00000433728.5:n.252A>G ENSP00000404400.1:p.Glu84=
ENST00000439200.5:c.252A>G ENSP00000408065.1:p.Glu84=
ENST00000447421.5:c.252A>G ENSP00000397478.2:p.Glu84=
ENST00000448511.5:n.252A>G ENSP00000404567.1:p.Glu84=