Canonical Allele Identifier: CA2582342789

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 2583744
• ClinVar RCV Id: RCV003334666

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28695759dup , CM000684.2:g.28695759dup	GRCh38
NC_000022.10:g.29091747dup , CM000684.1:g.29091747dup	GRCh37
NC_000022.9:g.27421747dup	NCBI36
NG_008150.1:g.51076dup
NG_008150.2:g.51108dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000711048.1:c.1009-517dup	ENSP00000518557.1:n.1009-517dup
ENST00000402731.6:c.1009dup	ENSP00000384835.2:p.Tyr337LeufsTer2
ENST00000404276.6:c.1210dup MANE Select	ENSP00000385747.1:p.Tyr404LeufsTer2
ENST00000425190.7:c.547dup	ENSP00000390244.2:p.Tyr183LeufsTer2
ENST00000464581.6:c.550dup	ENSP00000483777.2:p.Tyr184LeufsTer2
ENST00000648295.1:n.762dup
ENST00000649563.1:c.547dup	ENSP00000496928.1:p.Tyr183LeufsTer2
ENST00000650281.1:c.1210dup	ENSP00000497000.1:p.Tyr404LeufsTer2
ENST00000328354.10:c.1210dup	ENSP00000329178.6:p.Tyr404LeufsTer2
ENST00000348295.7:c.1123dup	ENSP00000329012.5:p.Tyr375LeufsTer2
ENST00000382580.6:c.1339dup	ENSP00000372023.2:p.Tyr447LeufsTer2
ENST00000402731.5:c.1123dup	ENSP00000384835.1:p.Tyr375LeufsTer2
ENST00000403642.5:c.937dup	ENSP00000384919.1:p.Tyr313LeufsTer2
ENST00000404276.5:c.1210dup	ENSP00000385747.1:p.Tyr404LeufsTer2
ENST00000405598.5:c.1210dup	ENSP00000386087.1:p.Tyr404LeufsTer2
ENST00000416671.5:c.*700dup	ENSP00000402225.1:n.*700dup
ENST00000417588.5:c.1119dup	ENSP00000412901.1:n.1119dup
ENST00000433728.5:c.1148dup	ENSP00000404400.1:n.1148dup
ENST00000434810.5:c.441dup
ENST00000448511.5:c.1100dup	ENSP00000404567.1:n.1100dup
ENST00000456369.5:c.263+4079dup
NM_001005735.1:c.1339dup	NP_001005735.1:p.Tyr447LeufsTer2
NM_001257387.1:c.547dup	NP_001244316.1:p.Tyr183LeufsTer2
NM_007194.3:c.1210dup	NP_009125.1:p.Tyr404LeufsTer2
NM_145862.2:c.1123dup	NP_665861.1:p.Tyr375LeufsTer2
XM_006724114.2:c.730dup	XP_006724177.1:p.Tyr244LeufsTer2
XM_006724116.2:c.667dup	XP_006724179.2:p.Tyr223LeufsTer2
XM_011529839.1:c.1369dup	XP_011528141.1:p.Tyr457LeufsTer2
XM_011529840.1:c.1282dup	XP_011528142.1:p.Tyr428LeufsTer2
XM_011529841.1:c.1138dup	XP_011528143.1:p.Tyr380LeufsTer2
XM_011529842.1:c.1039dup	XP_011528144.1:p.Tyr347LeufsTer2
XM_011529843.1:c.1009dup	XP_011528145.1:p.Tyr337LeufsTer2
XM_011529845.1:c.547dup	XP_011528147.1:p.Tyr183LeufsTer2
XR_937805.1:n.1369dup
NM_001349956.1:c.1009dup	NP_001336885.1:p.Tyr337LeufsTer2
NM_007194.4:c.1210dup MANE Select	NP_009125.1:p.Tyr404LeufsTer2
XM_006724114.3:c.763dup	XP_006724177.2:p.Tyr255LeufsTer2
XM_011529839.2:c.1369dup	XP_011528141.1:p.Tyr457LeufsTer2
XM_011529840.3:c.1282dup	XP_011528142.1:p.Tyr428LeufsTer2
XM_011529842.2:c.1039dup	XP_011528144.1:p.Tyr347LeufsTer2
XM_011529845.2:c.547dup	XP_011528147.1:p.Tyr183LeufsTer2
XM_017028560.1:c.1333dup	XP_016884049.1:p.Tyr445LeufsTer2
XM_017028561.2:c.547dup	XP_016884050.1:p.Tyr183LeufsTer2
XM_024452148.1:c.1240dup	XP_024307916.1:p.Tyr414LeufsTer2
XM_024452149.1:c.1153dup	XP_024307917.1:p.Tyr385LeufsTer2
XR_937805.2:n.1380dup
NM_001005735.2:c.1339dup	NP_001005735.1:p.Tyr447LeufsTer2
NM_001257387.2:c.547dup	NP_001244316.1:p.Tyr183LeufsTer2
NM_001349956.2:c.1009dup	NP_001336885.1:p.Tyr337LeufsTer2