Canonical Allele Identifier: CA411097570
Gene: CHEK2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1002924
dbSNP Id: rs765425451

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.28696926G>C , CM000684.2:g.28696926G>C GRCh38
NC_000022.10:g.29092914G>C , CM000684.1:g.29092914G>C GRCh37
NC_000022.9:g.27422914G>C NCBI36
NG_008150.1:g.49909C>G
NG_008150.2:g.49941C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000711048.1:c.1009-1684C>G ENSP00000518557.1:n.1009-1684C>G
ENST00000402731.6:c.869C>G ENSP00000384835.2:p.Ser290Cys
ENST00000404276.6:c.1070C>G MANE Select ENSP00000385747.1:p.Ser357Cys
ENST00000425190.7:c.407C>G ENSP00000390244.2:p.Ser136Cys
ENST00000464581.6:c.410C>G ENSP00000483777.2:p.Ser137Cys
ENST00000648295.1:n.622C>G
ENST00000649563.1:c.407C>G ENSP00000496928.1:p.Ser136Cys
ENST00000650281.1:c.1070C>G ENSP00000497000.1:p.Ser357Cys
ENST00000328354.10:c.1070C>G ENSP00000329178.6:p.Ser357Cys
ENST00000348295.7:c.1009-1053C>G ENSP00000329012.5:n.1009-1053C>G
ENST00000382580.6:c.1199C>G ENSP00000372023.2:p.Ser400Cys
ENST00000402731.5:c.1009-1053C>G ENSP00000384835.1:n.1009-1053C>G
ENST00000403642.5:c.797C>G ENSP00000384919.1:p.Ser266Cys
ENST00000404276.5:c.1070C>G ENSP00000385747.1:p.Ser357Cys
ENST00000405598.5:c.1070C>G ENSP00000386087.1:p.Ser357Cys
ENST00000416671.5:c.*560C>G ENSP00000402225.1:n.*560C>G
ENST00000417588.5:c.979C>G ENSP00000412901.1:n.979C>G
ENST00000433028.6:c.*795C>G ENSP00000403659.1:n.*795C>G
ENST00000433728.5:c.1008C>G ENSP00000404400.1:n.1008C>G
ENST00000434810.5:c.301C>G
ENST00000447421.5:c.869C>G ENSP00000397478.2:p.Ser290Cys
ENST00000448511.5:c.960C>G ENSP00000404567.1:n.960C>G
ENST00000456369.5:c.263+2912C>G
ENST00000464581.5:c.410C>G ENSP00000483777.1:p.Ser137Cys
NM_001005735.1:c.1199C>G NP_001005735.1:p.Ser400Cys
NM_001257387.1:c.407C>G NP_001244316.1:p.Ser136Cys
NM_007194.3:c.1070C>G NP_009125.1:p.Ser357Cys
NM_145862.2:c.1009-1053C>G NP_665861.1:n.1009-1053C>G
XM_006724114.2:c.590C>G XP_006724177.1:p.Ser197Cys
XM_006724116.2:c.527C>G XP_006724179.2:p.Ser176Cys
XM_011529839.1:c.1229C>G XP_011528141.1:p.Ser410Cys
XM_011529840.1:c.1168-1053C>G XP_011528142.1:n.1168-1053C>G
XM_011529841.1:c.998C>G XP_011528143.1:p.Ser333Cys
XM_011529842.1:c.899C>G XP_011528144.1:p.Ser300Cys
XM_011529843.1:c.869C>G XP_011528145.1:p.Ser290Cys
XM_011529845.1:c.407C>G XP_011528147.1:p.Ser136Cys
XR_937805.1:n.1229C>G
XR_937806.1:n.1163-1053C>G
NM_001349956.1:c.869C>G NP_001336885.1:p.Ser290Cys
NM_007194.4:c.1070C>G MANE Select NP_009125.1:p.Ser357Cys
XM_006724114.3:c.623C>G XP_006724177.2:p.Ser208Cys
XM_011529839.2:c.1229C>G XP_011528141.1:p.Ser410Cys
XM_011529840.3:c.1168-1053C>G XP_011528142.1:n.1168-1053C>G
XM_011529842.2:c.899C>G XP_011528144.1:p.Ser300Cys
XM_011529845.2:c.407C>G XP_011528147.1:p.Ser136Cys
XM_017028560.1:c.1193C>G XP_016884049.1:p.Ser398Cys
XM_017028561.2:c.407C>G XP_016884050.1:p.Ser136Cys
XM_024452148.1:c.1100C>G XP_024307916.1:p.Ser367Cys
XM_024452149.1:c.1039-1053C>G XP_024307917.1:n.1039-1053C>G
XR_937805.2:n.1240C>G
XR_937806.2:n.1179-1053C>G
NM_001005735.2:c.1199C>G NP_001005735.1:p.Ser400Cys
NM_001257387.2:c.407C>G NP_001244316.1:p.Ser136Cys
NM_001349956.2:c.869C>G NP_001336885.1:p.Ser290Cys