Canonical Allele Identifier: CA2739265696
Gene: CHEK2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2816915
ClinVar RCV Id: RCV003607917

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.28696921del , CM000684.2:g.28696921del GRCh38
NC_000022.10:g.29092909del , CM000684.1:g.29092909del GRCh37
NC_000022.9:g.27422909del NCBI36
NG_008150.1:g.49914del
NG_008150.2:g.49946del

Transcript Alleles

HGVS Amino-acid Change
ENST00000711048.1:c.1009-1679del ENSP00000518557.1:n.1009-1679del
ENST00000402731.6:c.874del ENSP00000384835.2:p.Glu292LysfsTer6
ENST00000404276.6:c.1075del MANE Select ENSP00000385747.1:p.Glu359LysfsTer6
ENST00000425190.7:c.412del ENSP00000390244.2:p.Glu138LysfsTer6
ENST00000464581.6:c.415del ENSP00000483777.2:p.Glu139LysfsTer6
ENST00000648295.1:n.627del
ENST00000649563.1:c.412del ENSP00000496928.1:p.Glu138LysfsTer6
ENST00000650281.1:c.1075del ENSP00000497000.1:p.Glu359LysfsTer6
ENST00000328354.10:c.1075del ENSP00000329178.6:p.Glu359LysfsTer6
ENST00000348295.7:c.1009-1048del ENSP00000329012.5:n.1009-1048del
ENST00000382580.6:c.1204del ENSP00000372023.2:p.Glu402LysfsTer6
ENST00000402731.5:c.1009-1048del ENSP00000384835.1:n.1009-1048del
ENST00000403642.5:c.802del ENSP00000384919.1:p.Glu268LysfsTer6
ENST00000404276.5:c.1075del ENSP00000385747.1:p.Glu359LysfsTer6
ENST00000405598.5:c.1075del ENSP00000386087.1:p.Glu359LysfsTer6
ENST00000416671.5:c.*565del ENSP00000402225.1:n.*565del
ENST00000417588.5:c.984del ENSP00000412901.1:n.984del
ENST00000433028.6:c.*800del ENSP00000403659.1:n.*800del
ENST00000433728.5:c.1013del ENSP00000404400.1:n.1013del
ENST00000434810.5:c.306del
ENST00000447421.5:c.874del ENSP00000397478.2:p.Glu292LysfsTer6
ENST00000448511.5:c.965del ENSP00000404567.1:n.965del
ENST00000456369.5:c.263+2917del
NM_001005735.1:c.1204del NP_001005735.1:p.Glu402LysfsTer6
NM_001257387.1:c.412del NP_001244316.1:p.Glu138LysfsTer6
NM_007194.3:c.1075del NP_009125.1:p.Glu359LysfsTer6
NM_145862.2:c.1009-1048del NP_665861.1:n.1009-1048del
XM_006724114.2:c.595del XP_006724177.1:p.Glu199LysfsTer6
XM_006724116.2:c.532del XP_006724179.2:p.Glu178LysfsTer6
XM_011529839.1:c.1234del XP_011528141.1:p.Glu412LysfsTer6
XM_011529840.1:c.1168-1048del XP_011528142.1:n.1168-1048del
XM_011529841.1:c.1003del XP_011528143.1:p.Glu335LysfsTer6
XM_011529842.1:c.904del XP_011528144.1:p.Glu302LysfsTer6
XM_011529843.1:c.874del XP_011528145.1:p.Glu292LysfsTer6
XM_011529845.1:c.412del XP_011528147.1:p.Glu138LysfsTer6
XR_937805.1:n.1234del
XR_937806.1:n.1163-1048del
NM_001349956.1:c.874del NP_001336885.1:p.Glu292LysfsTer6
NM_007194.4:c.1075del MANE Select NP_009125.1:p.Glu359LysfsTer6
XM_006724114.3:c.628del XP_006724177.2:p.Glu210LysfsTer6
XM_011529839.2:c.1234del XP_011528141.1:p.Glu412LysfsTer6
XM_011529840.3:c.1168-1048del XP_011528142.1:n.1168-1048del
XM_011529842.2:c.904del XP_011528144.1:p.Glu302LysfsTer6
XM_011529845.2:c.412del XP_011528147.1:p.Glu138LysfsTer6
XM_017028560.1:c.1198del XP_016884049.1:p.Glu400LysfsTer6
XM_017028561.2:c.412del XP_016884050.1:p.Glu138LysfsTer6
XM_024452148.1:c.1105del XP_024307916.1:p.Glu369LysfsTer6
XM_024452149.1:c.1039-1048del XP_024307917.1:n.1039-1048del
XR_937805.2:n.1245del
XR_937806.2:n.1179-1048del
NM_001005735.2:c.1204del NP_001005735.1:p.Glu402LysfsTer6
NM_001257387.2:c.412del NP_001244316.1:p.Glu138LysfsTer6
NM_001349956.2:c.874del NP_001336885.1:p.Glu292LysfsTer6