Canonical Allele Identifier: CA16616561
Gene: CHEK2 HGNC NCBI

Linked Data

ClinVar Variation Id: 410003
ClinVar RCV Id: RCV000457707
dbSNP Id: rs1060502687

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.28711917_28711918del , CM000684.2:g.28711917_28711918del GRCh38
NC_000022.10:g.29107905_29107906del , CM000684.1:g.29107905_29107906del GRCh37
NC_000022.9:g.27437905_27437906del NCBI36
NG_008150.1:g.34917_34918del
NG_008150.2:g.34949_34950del

Transcript Alleles

HGVS Amino-acid change
ENST00000439346.6:c.692_693del ENSP00000396903.2:n.692_693del
ENST00000711048.1:c.783_784del ENSP00000518557.1:p.Glu263GlyfsTer8
ENST00000402731.6:c.582_583del ENSP00000384835.2:p.Glu196GlyfsTer8
ENST00000404276.6:c.783_784del MANE Select ENSP00000385747.1:p.Glu263GlyfsTer8
ENST00000425190.7:c.120_121del ENSP00000390244.2:p.Glu42GlyfsTer8
ENST00000464581.6:c.123_124del ENSP00000483777.2:p.Glu43GlyfsTer8
ENST00000648295.1:n.335_336del
ENST00000649563.1:c.120_121del ENSP00000496928.1:p.Glu42GlyfsTer8
ENST00000650281.1:c.783_784del ENSP00000497000.1:p.Glu263GlyfsTer8
ENST00000328354.10:c.783_784del ENSP00000329178.6:p.Glu263GlyfsTer8
ENST00000348295.7:c.783_784del ENSP00000329012.5:p.Glu263GlyfsTer8
ENST00000382580.6:c.912_913del ENSP00000372023.2:p.Glu306GlyfsTer8
ENST00000402731.5:c.783_784del ENSP00000384835.1:p.Glu263GlyfsTer8
ENST00000403642.5:c.510_511del ENSP00000384919.1:p.Glu172GlyfsTer8
ENST00000404276.5:c.783_784del ENSP00000385747.1:p.Glu263GlyfsTer8
ENST00000405598.5:c.783_784del ENSP00000386087.1:p.Glu263GlyfsTer8
ENST00000416671.5:c.*273_*274del ENSP00000402225.1:n.*273_*274del
ENST00000417588.5:c.692_693del ENSP00000412901.1:n.692_693del
ENST00000425190.6:c.120_121del ENSP00000390244.1:p.Glu42GlyfsTer8
ENST00000433028.6:c.*508_*509del ENSP00000403659.1:n.*508_*509del
ENST00000433728.5:c.783_784del ENSP00000404400.1:p.Glu263GlyfsTer8
ENST00000434810.5:c.14_15del
ENST00000439200.5:c.876_877del ENSP00000408065.1:p.Glu294GlyfsTer?
ENST00000439346.5:c.254_255del ENSP00000396903.1:n.254_255del
ENST00000447421.5:c.582_583del ENSP00000397478.2:p.Glu196GlyfsTer8
ENST00000448511.5:c.673_674del ENSP00000404567.1:n.673_674del
ENST00000456369.5:c.38_39del
ENST00000464581.5:c.123_124del ENSP00000483777.1:p.Glu43GlyfsTer8
ENST00000491919.5:n.340_341del
NM_001005735.1:c.912_913del NP_001005735.1:p.Glu306GlyfsTer8
NM_001257387.1:c.120_121del NP_001244316.1:p.Glu42GlyfsTer8
NM_007194.3:c.783_784del NP_009125.1:p.Glu263GlyfsTer8
NM_145862.2:c.783_784del NP_665861.1:p.Glu263GlyfsTer8
XM_006724114.2:c.303_304del XP_006724177.1:p.Glu103GlyfsTer8
XM_006724116.2:c.240_241del XP_006724179.2:p.Glu82GlyfsTer8
XM_011529839.1:c.942_943del XP_011528141.1:p.Glu316GlyfsTer8
XM_011529840.1:c.942_943del XP_011528142.1:p.Glu316GlyfsTer8
XM_011529841.1:c.711_712del XP_011528143.1:p.Glu239GlyfsTer8
XM_011529842.1:c.612_613del XP_011528144.1:p.Glu206GlyfsTer8
XM_011529843.1:c.582_583del XP_011528145.1:p.Glu196GlyfsTer8
XM_011529844.1:c.942_943del XP_011528146.1:p.Glu316GlyfsTer8
XM_011529845.1:c.120_121del XP_011528147.1:p.Glu42GlyfsTer8
XR_937805.1:n.1004_1005del
XR_937806.1:n.999_1000del
XR_937807.1:n.999_1000del
NM_001349956.1:c.582_583del NP_001336885.1:p.Glu196GlyfsTer8
NM_007194.4:c.783_784del MANE Select NP_009125.1:p.Glu263GlyfsTer8
XM_006724114.3:c.336_337del XP_006724177.2:p.Glu114GlyfsTer8
XM_011529839.2:c.942_943del XP_011528141.1:p.Glu316GlyfsTer8
XM_011529840.3:c.942_943del XP_011528142.1:p.Glu316GlyfsTer8
XM_011529842.2:c.612_613del XP_011528144.1:p.Glu206GlyfsTer8
XM_011529844.2:c.942_943del XP_011528146.1:p.Glu316GlyfsTer8
XM_011529845.2:c.120_121del XP_011528147.1:p.Glu42GlyfsTer8
XM_017028560.1:c.906_907del XP_016884049.1:p.Glu304GlyfsTer8
XM_017028561.2:c.120_121del XP_016884050.1:p.Glu42GlyfsTer8
XM_024452148.1:c.813_814del XP_024307916.1:p.Glu273GlyfsTer8
XM_024452149.1:c.813_814del XP_024307917.1:p.Glu273GlyfsTer8
XR_937805.2:n.1015_1016del
XR_937806.2:n.1015_1016del
XR_937807.2:n.1015_1016del
NM_001005735.2:c.912_913del NP_001005735.1:p.Glu306GlyfsTer8
NM_001257387.2:c.120_121del NP_001244316.1:p.Glu42GlyfsTer8
NM_001349956.2:c.582_583del NP_001336885.1:p.Glu196GlyfsTer8