Canonical Allele Identifier: CA2573054987

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 1324070
• ClinVar RCV Id: RCV001780775
• dbSNP Id: rs2145785282

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000711048.1:c.*160dup	ENSP00000518557.1:n.*160dup
ENST00000402731.6:c.1224dup	ENSP00000384835.2:p.Thr409TyrfsTer14
ENST00000404276.6:c.1425dup MANE Select	ENSP00000385747.1:p.Thr476TyrfsTer14
ENST00000425190.7:c.762dup	ENSP00000390244.2:p.Thr255TyrfsTer14
ENST00000464581.6:c.765dup	ENSP00000483777.2:p.Thr256TyrfsTer14
ENST00000648295.1:n.977dup
ENST00000649563.1:c.762dup	ENSP00000496928.1:p.Thr255TyrfsTer14
ENST00000650281.1:c.1425dup	ENSP00000497000.1:p.Thr476TyrfsTer14
ENST00000328354.10:c.1425dup	ENSP00000329178.6:p.Thr476TyrfsTer14
ENST00000348295.7:c.1338dup	ENSP00000329012.5:p.Thr447TyrfsTer14
ENST00000382580.6:c.1554dup	ENSP00000372023.2:p.Thr519TyrfsTer14
ENST00000402731.5:c.1338dup	ENSP00000384835.1:p.Thr447TyrfsTer14
ENST00000403642.5:c.1152dup	ENSP00000384919.1:p.Thr385TyrfsTer14
ENST00000404276.5:c.1425dup	ENSP00000385747.1:p.Thr476TyrfsTer14
ENST00000405598.5:c.1425dup	ENSP00000386087.1:p.Thr476TyrfsTer14
ENST00000416671.5:c.*915dup	ENSP00000402225.1:n.*915dup
ENST00000417588.5:c.1334dup	ENSP00000412901.1:n.1334dup
ENST00000433728.5:c.1363dup	ENSP00000404400.1:n.1363dup
ENST00000434810.5:c.623dup
ENST00000448511.5:c.1315dup	ENSP00000404567.1:n.1315dup
ENST00000456369.5:c.264-4853dup
NM_001005735.1:c.1554dup	NP_001005735.1:p.Thr519TyrfsTer14
NM_001257387.1:c.762dup	NP_001244316.1:p.Thr255TyrfsTer14
NM_007194.3:c.1425dup	NP_009125.1:p.Thr476TyrfsTer14
NM_145862.2:c.1338dup	NP_665861.1:p.Thr447TyrfsTer14
XM_006724114.2:c.945dup	XP_006724177.1:p.Thr316TyrfsTer14
XM_006724116.2:c.882dup	XP_006724179.2:p.Thr295TyrfsTer14
XM_011529839.1:c.1584dup	XP_011528141.1:p.Thr529TyrfsTer14
XM_011529840.1:c.1497dup	XP_011528142.1:p.Thr500TyrfsTer14
XM_011529841.1:c.1353dup	XP_011528143.1:p.Thr452TyrfsTer14
XM_011529842.1:c.1254dup	XP_011528144.1:p.Thr419TyrfsTer14
XM_011529843.1:c.1224dup	XP_011528145.1:p.Thr409TyrfsTer14
XM_011529845.1:c.762dup	XP_011528147.1:p.Thr255TyrfsTer14
XR_937805.1:n.1584dup
NM_001349956.1:c.1224dup	NP_001336885.1:p.Thr409TyrfsTer14
NM_007194.4:c.1425dup MANE Select	NP_009125.1:p.Thr476TyrfsTer14
XM_006724114.3:c.978dup	XP_006724177.2:p.Thr327TyrfsTer14
XM_011529839.2:c.1584dup	XP_011528141.1:p.Thr529TyrfsTer14
XM_011529840.3:c.1497dup	XP_011528142.1:p.Thr500TyrfsTer14
XM_011529842.2:c.1254dup	XP_011528144.1:p.Thr419TyrfsTer14
XM_011529845.2:c.762dup	XP_011528147.1:p.Thr255TyrfsTer14
XM_017028560.1:c.1548dup	XP_016884049.1:p.Thr517TyrfsTer14
XM_017028561.2:c.762dup	XP_016884050.1:p.Thr255TyrfsTer14
XM_024452148.1:c.1455dup	XP_024307916.1:p.Thr486TyrfsTer14
XM_024452149.1:c.1368dup	XP_024307917.1:p.Thr457TyrfsTer14
XR_937805.2:n.1595dup
NM_001005735.2:c.1554dup	NP_001005735.1:p.Thr519TyrfsTer14
NM_001257387.2:c.762dup	NP_001244316.1:p.Thr255TyrfsTer14
NM_001349956.2:c.1224dup	NP_001336885.1:p.Thr409TyrfsTer14