Canonical Allele Identifier: CA2499226061
Gene: CHEK2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1072210
ClinVar RCV Id: RCV001384863
dbSNP Id: rs2145801216

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.28695722del , CM000684.2:g.28695722del GRCh38
NC_000022.10:g.29091710del , CM000684.1:g.29091710del GRCh37
NC_000022.9:g.27421710del NCBI36
NG_008150.1:g.51114del
NG_008150.2:g.51146del

Transcript Alleles

HGVS Amino-acid change
ENST00000711048.1:c.1009-479del ENSP00000518557.1:n.1009-479del
ENST00000402731.6:c.1047del ENSP00000384835.2:p.Leu350PhefsTer20
ENST00000404276.6:c.1248del MANE Select ENSP00000385747.1:p.Leu417PhefsTer20
ENST00000425190.7:c.585del ENSP00000390244.2:p.Leu196PhefsTer20
ENST00000464581.6:c.588del ENSP00000483777.2:p.Leu197PhefsTer20
ENST00000648295.1:n.800del
ENST00000649563.1:c.585del ENSP00000496928.1:p.Leu196PhefsTer20
ENST00000650281.1:c.1248del ENSP00000497000.1:p.Leu417PhefsTer20
ENST00000328354.10:c.1248del ENSP00000329178.6:p.Leu417PhefsTer20
ENST00000348295.7:c.1161del ENSP00000329012.5:p.Leu388PhefsTer20
ENST00000382580.6:c.1377del ENSP00000372023.2:p.Leu460PhefsTer20
ENST00000402731.5:c.1161del ENSP00000384835.1:p.Leu388PhefsTer20
ENST00000403642.5:c.975del ENSP00000384919.1:p.Leu326PhefsTer20
ENST00000404276.5:c.1248del ENSP00000385747.1:p.Leu417PhefsTer20
ENST00000405598.5:c.1248del ENSP00000386087.1:p.Leu417PhefsTer20
ENST00000416671.5:c.*738del ENSP00000402225.1:n.*738del
ENST00000417588.5:c.1157del ENSP00000412901.1:n.1157del
ENST00000433728.5:c.1186del ENSP00000404400.1:n.1186del
ENST00000434810.5:c.479del
ENST00000448511.5:c.1138del ENSP00000404567.1:n.1138del
ENST00000456369.5:c.263+4117del
NM_001005735.1:c.1377del NP_001005735.1:p.Leu460PhefsTer20
NM_001257387.1:c.585del NP_001244316.1:p.Leu196PhefsTer20
NM_007194.3:c.1248del NP_009125.1:p.Leu417PhefsTer20
NM_145862.2:c.1161del NP_665861.1:p.Leu388PhefsTer20
XM_006724114.2:c.768del XP_006724177.1:p.Leu257PhefsTer20
XM_006724116.2:c.705del XP_006724179.2:p.Leu236PhefsTer20
XM_011529839.1:c.1407del XP_011528141.1:p.Leu470PhefsTer20
XM_011529840.1:c.1320del XP_011528142.1:p.Leu441PhefsTer20
XM_011529841.1:c.1176del XP_011528143.1:p.Leu393PhefsTer20
XM_011529842.1:c.1077del XP_011528144.1:p.Leu360PhefsTer20
XM_011529843.1:c.1047del XP_011528145.1:p.Leu350PhefsTer20
XM_011529845.1:c.585del XP_011528147.1:p.Leu196PhefsTer20
XR_937805.1:n.1407del
NM_001349956.1:c.1047del NP_001336885.1:p.Leu350PhefsTer20
NM_007194.4:c.1248del MANE Select NP_009125.1:p.Leu417PhefsTer20
XM_006724114.3:c.801del XP_006724177.2:p.Leu268PhefsTer20
XM_011529839.2:c.1407del XP_011528141.1:p.Leu470PhefsTer20
XM_011529840.3:c.1320del XP_011528142.1:p.Leu441PhefsTer20
XM_011529842.2:c.1077del XP_011528144.1:p.Leu360PhefsTer20
XM_011529845.2:c.585del XP_011528147.1:p.Leu196PhefsTer20
XM_017028560.1:c.1371del XP_016884049.1:p.Leu458PhefsTer20
XM_017028561.2:c.585del XP_016884050.1:p.Leu196PhefsTer20
XM_024452148.1:c.1278del XP_024307916.1:p.Leu427PhefsTer20
XM_024452149.1:c.1191del XP_024307917.1:p.Leu398PhefsTer20
XR_937805.2:n.1418del
NM_001005735.2:c.1377del NP_001005735.1:p.Leu460PhefsTer20
NM_001257387.2:c.585del NP_001244316.1:p.Leu196PhefsTer20
NM_001349956.2:c.1047del NP_001336885.1:p.Leu350PhefsTer20