Canonical Allele Identifier: CA2582342792

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 2583446
• ClinVar RCV Id: RCV003337117

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28695803dup , CM000684.2:g.28695803dup	GRCh38
NC_000022.10:g.29091791dup , CM000684.1:g.29091791dup	GRCh37
NC_000022.9:g.27421791dup	NCBI36
NG_008150.1:g.51033dup
NG_008150.2:g.51065dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.1009-560dup	ENSP00000518557.1:n.1009-560dup
ENST00000402731.6:c.966dup	ENSP00000384835.2:p.Tyr323LeufsTer5
ENST00000404276.6:c.1167dup MANE Select	ENSP00000385747.1:p.Tyr390LeufsTer5
ENST00000425190.7:c.504dup	ENSP00000390244.2:p.Tyr169LeufsTer5
ENST00000464581.6:c.507dup	ENSP00000483777.2:p.Tyr170LeufsTer5
ENST00000648295.1:n.719dup
ENST00000649563.1:c.504dup	ENSP00000496928.1:p.Tyr169LeufsTer5
ENST00000650281.1:c.1167dup	ENSP00000497000.1:p.Tyr390LeufsTer5
ENST00000328354.10:c.1167dup	ENSP00000329178.6:p.Tyr390LeufsTer5
ENST00000348295.7:c.1080dup	ENSP00000329012.5:p.Tyr361LeufsTer5
ENST00000382580.6:c.1296dup	ENSP00000372023.2:p.Tyr433LeufsTer5
ENST00000402731.5:c.1080dup	ENSP00000384835.1:p.Tyr361LeufsTer5
ENST00000403642.5:c.894dup	ENSP00000384919.1:p.Tyr299LeufsTer5
ENST00000404276.5:c.1167dup	ENSP00000385747.1:p.Tyr390LeufsTer5
ENST00000405598.5:c.1167dup	ENSP00000386087.1:p.Tyr390LeufsTer5
ENST00000416671.5:c.*657dup	ENSP00000402225.1:n.*657dup
ENST00000417588.5:c.1076dup	ENSP00000412901.1:n.1076dup
ENST00000433728.5:c.1105dup	ENSP00000404400.1:n.1105dup
ENST00000434810.5:c.398dup
ENST00000448511.5:c.1057dup	ENSP00000404567.1:n.1057dup
ENST00000456369.5:c.263+4036dup
NM_001005735.1:c.1296dup	NP_001005735.1:p.Tyr433LeufsTer5
NM_001257387.1:c.504dup	NP_001244316.1:p.Tyr169LeufsTer5
NM_007194.3:c.1167dup	NP_009125.1:p.Tyr390LeufsTer5
NM_145862.2:c.1080dup	NP_665861.1:p.Tyr361LeufsTer5
XM_006724114.2:c.687dup	XP_006724177.1:p.Tyr230LeufsTer5
XM_006724116.2:c.624dup	XP_006724179.2:p.Tyr209LeufsTer5
XM_011529839.1:c.1326dup	XP_011528141.1:p.Tyr443LeufsTer5
XM_011529840.1:c.1239dup	XP_011528142.1:p.Tyr414LeufsTer5
XM_011529841.1:c.1095dup	XP_011528143.1:p.Tyr366LeufsTer5
XM_011529842.1:c.996dup	XP_011528144.1:p.Tyr333LeufsTer5
XM_011529843.1:c.966dup	XP_011528145.1:p.Tyr323LeufsTer5
XM_011529845.1:c.504dup	XP_011528147.1:p.Tyr169LeufsTer5
XR_937805.1:n.1326dup
XR_937806.1:n.1234dup
NM_001349956.1:c.966dup	NP_001336885.1:p.Tyr323LeufsTer5
NM_007194.4:c.1167dup MANE Select	NP_009125.1:p.Tyr390LeufsTer5
XM_006724114.3:c.720dup	XP_006724177.2:p.Tyr241LeufsTer5
XM_011529839.2:c.1326dup	XP_011528141.1:p.Tyr443LeufsTer5
XM_011529840.3:c.1239dup	XP_011528142.1:p.Tyr414LeufsTer5
XM_011529842.2:c.996dup	XP_011528144.1:p.Tyr333LeufsTer5
XM_011529845.2:c.504dup	XP_011528147.1:p.Tyr169LeufsTer5
XM_017028560.1:c.1290dup	XP_016884049.1:p.Tyr431LeufsTer5
XM_017028561.2:c.504dup	XP_016884050.1:p.Tyr169LeufsTer5
XM_024452148.1:c.1197dup	XP_024307916.1:p.Tyr400LeufsTer5
XM_024452149.1:c.1110dup	XP_024307917.1:p.Tyr371LeufsTer5
XR_937805.2:n.1337dup
XR_937806.2:n.1250dup
NM_001005735.2:c.1296dup	NP_001005735.1:p.Tyr433LeufsTer5
NM_001257387.2:c.504dup	NP_001244316.1:p.Tyr169LeufsTer5
NM_001349956.2:c.966dup	NP_001336885.1:p.Tyr323LeufsTer5