Canonical Allele Identifier: CA2580099378

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 5593
• ClinVar RCV Id: RCV000005941

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28694071del , CM000684.2:g.28694071del	GRCh38
NC_000022.10:g.29090059del , CM000684.1:g.29090059del	GRCh37
NC_000022.9:g.27420059del	NCBI36
NG_008150.1:g.52767del
NG_008150.2:g.52799del

Transcript Alleles

HGVS	Amino-acid change
ENST00000711048.1:c.*160del	ENSP00000518557.1:n.*160del
ENST00000402731.6:c.1224del	ENSP00000384835.2:p.Phe408LeufsTer7
ENST00000404276.6:c.1425del MANE Select	ENSP00000385747.1:p.Phe475LeufsTer7
ENST00000425190.7:c.762del	ENSP00000390244.2:p.Phe254LeufsTer7
ENST00000464581.6:c.765del	ENSP00000483777.2:p.Phe255LeufsTer7
ENST00000648295.1:n.977del
ENST00000649563.1:c.762del	ENSP00000496928.1:p.Phe254LeufsTer7
ENST00000650281.1:c.1425del	ENSP00000497000.1:p.Phe475LeufsTer7
ENST00000328354.10:c.1425del	ENSP00000329178.6:p.Phe475LeufsTer7
ENST00000348295.7:c.1338del	ENSP00000329012.5:p.Phe446LeufsTer7
ENST00000382580.6:c.1554del	ENSP00000372023.2:p.Phe518LeufsTer7
ENST00000402731.5:c.1338del	ENSP00000384835.1:p.Phe446LeufsTer7
ENST00000403642.5:c.1152del	ENSP00000384919.1:p.Phe384LeufsTer7
ENST00000404276.5:c.1425del	ENSP00000385747.1:p.Phe475LeufsTer7
ENST00000405598.5:c.1425del	ENSP00000386087.1:p.Phe475LeufsTer7
ENST00000416671.5:c.*915del	ENSP00000402225.1:n.*915del
ENST00000417588.5:c.1334del	ENSP00000412901.1:n.1334del
ENST00000433728.5:c.1363del	ENSP00000404400.1:n.1363del
ENST00000434810.5:c.623del
ENST00000448511.5:c.1315del	ENSP00000404567.1:n.1315del
ENST00000456369.5:c.264-4853del
NM_001005735.1:c.1554del	NP_001005735.1:p.Phe518LeufsTer7
NM_001257387.1:c.762del	NP_001244316.1:p.Phe254LeufsTer7
NM_007194.3:c.1425del	NP_009125.1:p.Phe475LeufsTer7
NM_145862.2:c.1338del	NP_665861.1:p.Phe446LeufsTer7
XM_006724114.2:c.945del	XP_006724177.1:p.Phe315LeufsTer7
XM_006724116.2:c.882del	XP_006724179.2:p.Phe294LeufsTer7
XM_011529839.1:c.1584del	XP_011528141.1:p.Phe528LeufsTer7
XM_011529840.1:c.1497del	XP_011528142.1:p.Phe499LeufsTer7
XM_011529841.1:c.1353del	XP_011528143.1:p.Phe451LeufsTer7
XM_011529842.1:c.1254del	XP_011528144.1:p.Phe418LeufsTer7
XM_011529843.1:c.1224del	XP_011528145.1:p.Phe408LeufsTer7
XM_011529845.1:c.762del	XP_011528147.1:p.Phe254LeufsTer7
XR_937805.1:n.1584del
NM_001349956.1:c.1224del	NP_001336885.1:p.Phe408LeufsTer7
NM_007194.4:c.1425del MANE Select	NP_009125.1:p.Phe475LeufsTer7
XM_006724114.3:c.978del	XP_006724177.2:p.Phe326LeufsTer7
XM_011529839.2:c.1584del	XP_011528141.1:p.Phe528LeufsTer7
XM_011529840.3:c.1497del	XP_011528142.1:p.Phe499LeufsTer7
XM_011529842.2:c.1254del	XP_011528144.1:p.Phe418LeufsTer7
XM_011529845.2:c.762del	XP_011528147.1:p.Phe254LeufsTer7
XM_017028560.1:c.1548del	XP_016884049.1:p.Phe516LeufsTer7
XM_017028561.2:c.762del	XP_016884050.1:p.Phe254LeufsTer7
XM_024452148.1:c.1455del	XP_024307916.1:p.Phe485LeufsTer7
XM_024452149.1:c.1368del	XP_024307917.1:p.Phe456LeufsTer7
XR_937805.2:n.1595del
NM_001005735.2:c.1554del	NP_001005735.1:p.Phe518LeufsTer7
NM_001257387.2:c.762del	NP_001244316.1:p.Phe254LeufsTer7
NM_001349956.2:c.1224del	NP_001336885.1:p.Phe408LeufsTer7