Canonical Allele Identifier: CA288270
Gene: CHEK2 HGNC NCBI

Linked Data

ClinVar Variation Id: 128052
dbSNP Id: rs587780173

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.28695719del , CM000684.2:g.28695719del GRCh38
NC_000022.10:g.29091707del , CM000684.1:g.29091707del GRCh37
NC_000022.9:g.27421707del NCBI36
NG_008150.1:g.51120del
NG_008150.2:g.51152del

Transcript Alleles

HGVS Amino-acid change
ENST00000711048.1:c.1009-473del ENSP00000518557.1:n.1009-473del
ENST00000402731.6:c.1053del ENSP00000384835.2:p.Phe351LeufsTer19
ENST00000404276.6:c.1254del MANE Select ENSP00000385747.1:p.Phe418LeufsTer19
ENST00000425190.7:c.591del ENSP00000390244.2:p.Phe197LeufsTer19
ENST00000464581.6:c.594del ENSP00000483777.2:p.Phe198LeufsTer19
ENST00000648295.1:n.806del
ENST00000649563.1:c.591del ENSP00000496928.1:p.Phe197LeufsTer19
ENST00000650281.1:c.1254del ENSP00000497000.1:p.Phe418LeufsTer19
ENST00000328354.10:c.1254del ENSP00000329178.6:p.Phe418LeufsTer19
ENST00000348295.7:c.1167del ENSP00000329012.5:p.Phe389LeufsTer19
ENST00000382580.6:c.1383del ENSP00000372023.2:p.Phe461LeufsTer19
ENST00000402731.5:c.1167del ENSP00000384835.1:p.Phe389LeufsTer19
ENST00000403642.5:c.981del ENSP00000384919.1:p.Phe327LeufsTer19
ENST00000404276.5:c.1254del ENSP00000385747.1:p.Phe418LeufsTer19
ENST00000405598.5:c.1254del ENSP00000386087.1:p.Phe418LeufsTer19
ENST00000416671.5:c.*744del ENSP00000402225.1:n.*744del
ENST00000417588.5:c.1163del ENSP00000412901.1:n.1163del
ENST00000433728.5:c.1192del ENSP00000404400.1:n.1192del
ENST00000434810.5:c.485del
ENST00000448511.5:c.1144del ENSP00000404567.1:n.1144del
ENST00000456369.5:c.263+4123del
NM_001005735.1:c.1383del NP_001005735.1:p.Phe461LeufsTer19
NM_001257387.1:c.591del NP_001244316.1:p.Phe197LeufsTer19
NM_007194.3:c.1254del NP_009125.1:p.Phe418LeufsTer19
NM_145862.2:c.1167del NP_665861.1:p.Phe389LeufsTer19
XM_006724114.2:c.774del XP_006724177.1:p.Phe258LeufsTer19
XM_006724116.2:c.711del XP_006724179.2:p.Phe237LeufsTer19
XM_011529839.1:c.1413del XP_011528141.1:p.Phe471LeufsTer19
XM_011529840.1:c.1326del XP_011528142.1:p.Phe442LeufsTer19
XM_011529841.1:c.1182del XP_011528143.1:p.Phe394LeufsTer19
XM_011529842.1:c.1083del XP_011528144.1:p.Phe361LeufsTer19
XM_011529843.1:c.1053del XP_011528145.1:p.Phe351LeufsTer19
XM_011529845.1:c.591del XP_011528147.1:p.Phe197LeufsTer19
XR_937805.1:n.1413del
NM_001349956.1:c.1053del NP_001336885.1:p.Phe351LeufsTer19
NM_007194.4:c.1254del MANE Select NP_009125.1:p.Phe418LeufsTer19
XM_006724114.3:c.807del XP_006724177.2:p.Phe269LeufsTer19
XM_011529839.2:c.1413del XP_011528141.1:p.Phe471LeufsTer19
XM_011529840.3:c.1326del XP_011528142.1:p.Phe442LeufsTer19
XM_011529842.2:c.1083del XP_011528144.1:p.Phe361LeufsTer19
XM_011529845.2:c.591del XP_011528147.1:p.Phe197LeufsTer19
XM_017028560.1:c.1377del XP_016884049.1:p.Phe459LeufsTer19
XM_017028561.2:c.591del XP_016884050.1:p.Phe197LeufsTer19
XM_024452148.1:c.1284del XP_024307916.1:p.Phe428LeufsTer19
XM_024452149.1:c.1197del XP_024307917.1:p.Phe399LeufsTer19
XR_937805.2:n.1424del
NM_001005735.2:c.1383del NP_001005735.1:p.Phe461LeufsTer19
NM_001257387.2:c.591del NP_001244316.1:p.Phe197LeufsTer19
NM_001349956.2:c.1053del NP_001336885.1:p.Phe351LeufsTer19