Canonical Allele Identifier: CA2582342798

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 2586649
• ClinVar RCV Id: RCV003360663

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28695848del , CM000684.2:g.28695848del	GRCh38
NC_000022.10:g.29091836del , CM000684.1:g.29091836del	GRCh37
NC_000022.9:g.27421836del	NCBI36
NG_008150.1:g.50990del
NG_008150.2:g.51022del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.1009-603del	ENSP00000518557.1:n.1009-603del
ENST00000402731.6:c.923del	ENSP00000384835.2:p.Leu308TrpfsTer7
ENST00000404276.6:c.1124del MANE Select	ENSP00000385747.1:p.Leu375TrpfsTer7
ENST00000425190.7:c.461del	ENSP00000390244.2:p.Leu154TrpfsTer7
ENST00000464581.6:c.464del	ENSP00000483777.2:p.Leu155TrpfsTer7
ENST00000648295.1:n.676del
ENST00000649563.1:c.461del	ENSP00000496928.1:p.Leu154TrpfsTer7
ENST00000650281.1:c.1124del	ENSP00000497000.1:p.Leu375TrpfsTer7
ENST00000328354.10:c.1124del	ENSP00000329178.6:p.Leu375TrpfsTer7
ENST00000348295.7:c.1037del	ENSP00000329012.5:p.Leu346TrpfsTer7
ENST00000382580.6:c.1253del	ENSP00000372023.2:p.Leu418TrpfsTer7
ENST00000402731.5:c.1037del	ENSP00000384835.1:p.Leu346TrpfsTer7
ENST00000403642.5:c.851del	ENSP00000384919.1:p.Leu284TrpfsTer7
ENST00000404276.5:c.1124del	ENSP00000385747.1:p.Leu375TrpfsTer7
ENST00000405598.5:c.1124del	ENSP00000386087.1:p.Leu375TrpfsTer7
ENST00000416671.5:c.*614del	ENSP00000402225.1:n.*614del
ENST00000417588.5:c.1033del	ENSP00000412901.1:n.1033del
ENST00000433728.5:c.1062del	ENSP00000404400.1:n.1062del
ENST00000434810.5:c.355del
ENST00000448511.5:c.1014del	ENSP00000404567.1:n.1014del
ENST00000456369.5:c.263+3993del
NM_001005735.1:c.1253del	NP_001005735.1:p.Leu418TrpfsTer7
NM_001257387.1:c.461del	NP_001244316.1:p.Leu154TrpfsTer7
NM_007194.3:c.1124del	NP_009125.1:p.Leu375TrpfsTer7
NM_145862.2:c.1037del	NP_665861.1:p.Leu346TrpfsTer7
XM_006724114.2:c.644del	XP_006724177.1:p.Leu215TrpfsTer7
XM_006724116.2:c.581del	XP_006724179.2:p.Leu194TrpfsTer7
XM_011529839.1:c.1283del	XP_011528141.1:p.Leu428TrpfsTer7
XM_011529840.1:c.1196del	XP_011528142.1:p.Leu399TrpfsTer7
XM_011529841.1:c.1052del	XP_011528143.1:p.Leu351TrpfsTer7
XM_011529842.1:c.953del	XP_011528144.1:p.Leu318TrpfsTer7
XM_011529843.1:c.923del	XP_011528145.1:p.Leu308TrpfsTer7
XM_011529845.1:c.461del	XP_011528147.1:p.Leu154TrpfsTer7
XR_937805.1:n.1283del
XR_937806.1:n.1191del
NM_001349956.1:c.923del	NP_001336885.1:p.Leu308TrpfsTer7
NM_007194.4:c.1124del MANE Select	NP_009125.1:p.Leu375TrpfsTer7
XM_006724114.3:c.677del	XP_006724177.2:p.Leu226TrpfsTer7
XM_011529839.2:c.1283del	XP_011528141.1:p.Leu428TrpfsTer7
XM_011529840.3:c.1196del	XP_011528142.1:p.Leu399TrpfsTer7
XM_011529842.2:c.953del	XP_011528144.1:p.Leu318TrpfsTer7
XM_011529845.2:c.461del	XP_011528147.1:p.Leu154TrpfsTer7
XM_017028560.1:c.1247del	XP_016884049.1:p.Leu416TrpfsTer7
XM_017028561.2:c.461del	XP_016884050.1:p.Leu154TrpfsTer7
XM_024452148.1:c.1154del	XP_024307916.1:p.Leu385TrpfsTer7
XM_024452149.1:c.1067del	XP_024307917.1:p.Leu356TrpfsTer7
XR_937805.2:n.1294del
XR_937806.2:n.1207del
NM_001005735.2:c.1253del	NP_001005735.1:p.Leu418TrpfsTer7
NM_001257387.2:c.461del	NP_001244316.1:p.Leu154TrpfsTer7
NM_001349956.2:c.923del	NP_001336885.1:p.Leu308TrpfsTer7