Canonical Allele Identifier: CA2580099490

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 2133947
• ClinVar RCV Id: RCV003044688

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28695753_28695759dup , CM000684.2:g.28695753_28695759dup	GRCh38
NC_000022.10:g.29091741_29091747dup , CM000684.1:g.29091741_29091747dup	GRCh37
NC_000022.9:g.27421741_27421747dup	NCBI36
NG_008150.1:g.51076_51082dup
NG_008150.2:g.51108_51114dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000711048.1:c.1009-517_1009-511dup	ENSP00000518557.1:n.1009-517_1009-511dup
ENST00000402731.6:c.1009_1015dup	ENSP00000384835.2:p.Arg339LeufsTer2
ENST00000404276.6:c.1210_1216dup MANE Select	ENSP00000385747.1:p.Arg406LeufsTer2
ENST00000425190.7:c.547_553dup	ENSP00000390244.2:p.Arg185LeufsTer2
ENST00000464581.6:c.550_556dup	ENSP00000483777.2:p.Arg186LeufsTer2
ENST00000648295.1:n.762_768dup
ENST00000649563.1:c.547_553dup	ENSP00000496928.1:p.Arg185LeufsTer2
ENST00000650281.1:c.1210_1216dup	ENSP00000497000.1:p.Arg406LeufsTer2
ENST00000328354.10:c.1210_1216dup	ENSP00000329178.6:p.Arg406LeufsTer2
ENST00000348295.7:c.1123_1129dup	ENSP00000329012.5:p.Arg377LeufsTer2
ENST00000382580.6:c.1339_1345dup	ENSP00000372023.2:p.Arg449LeufsTer2
ENST00000402731.5:c.1123_1129dup	ENSP00000384835.1:p.Arg377LeufsTer2
ENST00000403642.5:c.937_943dup	ENSP00000384919.1:p.Arg315LeufsTer2
ENST00000404276.5:c.1210_1216dup	ENSP00000385747.1:p.Arg406LeufsTer2
ENST00000405598.5:c.1210_1216dup	ENSP00000386087.1:p.Arg406LeufsTer2
ENST00000416671.5:c.*700_*706dup	ENSP00000402225.1:n.*700_*706dup
ENST00000417588.5:c.1119_1125dup	ENSP00000412901.1:n.1119_1125dup
ENST00000433728.5:c.1148_1154dup	ENSP00000404400.1:n.1148_1154dup
ENST00000434810.5:c.441_447dup
ENST00000448511.5:c.1100_1106dup	ENSP00000404567.1:n.1100_1106dup
ENST00000456369.5:c.263+4079_263+4085dup
NM_001005735.1:c.1339_1345dup	NP_001005735.1:p.Arg449LeufsTer2
NM_001257387.1:c.547_553dup	NP_001244316.1:p.Arg185LeufsTer2
NM_007194.3:c.1210_1216dup	NP_009125.1:p.Arg406LeufsTer2
NM_145862.2:c.1123_1129dup	NP_665861.1:p.Arg377LeufsTer2
XM_006724114.2:c.730_736dup	XP_006724177.1:p.Arg246LeufsTer2
XM_006724116.2:c.667_673dup	XP_006724179.2:p.Arg225LeufsTer2
XM_011529839.1:c.1369_1375dup	XP_011528141.1:p.Arg459LeufsTer2
XM_011529840.1:c.1282_1288dup	XP_011528142.1:p.Arg430LeufsTer2
XM_011529841.1:c.1138_1144dup	XP_011528143.1:p.Arg382LeufsTer2
XM_011529842.1:c.1039_1045dup	XP_011528144.1:p.Arg349LeufsTer2
XM_011529843.1:c.1009_1015dup	XP_011528145.1:p.Arg339LeufsTer2
XM_011529845.1:c.547_553dup	XP_011528147.1:p.Arg185LeufsTer2
XR_937805.1:n.1369_1375dup
NM_001349956.1:c.1009_1015dup	NP_001336885.1:p.Arg339LeufsTer2
NM_007194.4:c.1210_1216dup MANE Select	NP_009125.1:p.Arg406LeufsTer2
XM_006724114.3:c.763_769dup	XP_006724177.2:p.Arg257LeufsTer2
XM_011529839.2:c.1369_1375dup	XP_011528141.1:p.Arg459LeufsTer2
XM_011529840.3:c.1282_1288dup	XP_011528142.1:p.Arg430LeufsTer2
XM_011529842.2:c.1039_1045dup	XP_011528144.1:p.Arg349LeufsTer2
XM_011529845.2:c.547_553dup	XP_011528147.1:p.Arg185LeufsTer2
XM_017028560.1:c.1333_1339dup	XP_016884049.1:p.Arg447LeufsTer2
XM_017028561.2:c.547_553dup	XP_016884050.1:p.Arg185LeufsTer2
XM_024452148.1:c.1240_1246dup	XP_024307916.1:p.Arg416LeufsTer2
XM_024452149.1:c.1153_1159dup	XP_024307917.1:p.Arg387LeufsTer2
XR_937805.2:n.1380_1386dup
NM_001005735.2:c.1339_1345dup	NP_001005735.1:p.Arg449LeufsTer2
NM_001257387.2:c.547_553dup	NP_001244316.1:p.Arg185LeufsTer2
NM_001349956.2:c.1009_1015dup	NP_001336885.1:p.Arg339LeufsTer2