Canonical Allele Identifier: CA2697552655

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 2710273
• ClinVar RCV Id: RCV003501310

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000711048.1:c.1009-517del	ENSP00000518557.1:n.1009-517del
ENST00000402731.6:c.1009del	ENSP00000384835.2:p.Tyr337IlefsTer10
ENST00000404276.6:c.1210del MANE Select	ENSP00000385747.1:p.Tyr404IlefsTer10
ENST00000425190.7:c.547del	ENSP00000390244.2:p.Tyr183IlefsTer10
ENST00000464581.6:c.550del	ENSP00000483777.2:p.Tyr184IlefsTer10
ENST00000648295.1:n.762del
ENST00000649563.1:c.547del	ENSP00000496928.1:p.Tyr183IlefsTer10
ENST00000650281.1:c.1210del	ENSP00000497000.1:p.Tyr404IlefsTer10
ENST00000328354.10:c.1210del	ENSP00000329178.6:p.Tyr404IlefsTer10
ENST00000348295.7:c.1123del	ENSP00000329012.5:p.Tyr375IlefsTer10
ENST00000382580.6:c.1339del	ENSP00000372023.2:p.Tyr447IlefsTer10
ENST00000402731.5:c.1123del	ENSP00000384835.1:p.Tyr375IlefsTer10
ENST00000403642.5:c.937del	ENSP00000384919.1:p.Tyr313IlefsTer10
ENST00000404276.5:c.1210del	ENSP00000385747.1:p.Tyr404IlefsTer10
ENST00000405598.5:c.1210del	ENSP00000386087.1:p.Tyr404IlefsTer10
ENST00000416671.5:c.*700del	ENSP00000402225.1:n.*700del
ENST00000417588.5:c.1119del	ENSP00000412901.1:n.1119del
ENST00000433728.5:c.1148del	ENSP00000404400.1:n.1148del
ENST00000434810.5:c.441del
ENST00000448511.5:c.1100del	ENSP00000404567.1:n.1100del
ENST00000456369.5:c.263+4079del
NM_001005735.1:c.1339del	NP_001005735.1:p.Tyr447IlefsTer10
NM_001257387.1:c.547del	NP_001244316.1:p.Tyr183IlefsTer10
NM_007194.3:c.1210del	NP_009125.1:p.Tyr404IlefsTer10
NM_145862.2:c.1123del	NP_665861.1:p.Tyr375IlefsTer10
XM_006724114.2:c.730del	XP_006724177.1:p.Tyr244IlefsTer10
XM_006724116.2:c.667del	XP_006724179.2:p.Tyr223IlefsTer10
XM_011529839.1:c.1369del	XP_011528141.1:p.Tyr457IlefsTer10
XM_011529840.1:c.1282del	XP_011528142.1:p.Tyr428IlefsTer10
XM_011529841.1:c.1138del	XP_011528143.1:p.Tyr380IlefsTer10
XM_011529842.1:c.1039del	XP_011528144.1:p.Tyr347IlefsTer10
XM_011529843.1:c.1009del	XP_011528145.1:p.Tyr337IlefsTer10
XM_011529845.1:c.547del	XP_011528147.1:p.Tyr183IlefsTer10
XR_937805.1:n.1369del
NM_001349956.1:c.1009del	NP_001336885.1:p.Tyr337IlefsTer10
NM_007194.4:c.1210del MANE Select	NP_009125.1:p.Tyr404IlefsTer10
XM_006724114.3:c.763del	XP_006724177.2:p.Tyr255IlefsTer10
XM_011529839.2:c.1369del	XP_011528141.1:p.Tyr457IlefsTer10
XM_011529840.3:c.1282del	XP_011528142.1:p.Tyr428IlefsTer10
XM_011529842.2:c.1039del	XP_011528144.1:p.Tyr347IlefsTer10
XM_011529845.2:c.547del	XP_011528147.1:p.Tyr183IlefsTer10
XM_017028560.1:c.1333del	XP_016884049.1:p.Tyr445IlefsTer10
XM_017028561.2:c.547del	XP_016884050.1:p.Tyr183IlefsTer10
XM_024452148.1:c.1240del	XP_024307916.1:p.Tyr414IlefsTer10
XM_024452149.1:c.1153del	XP_024307917.1:p.Tyr385IlefsTer10
XR_937805.2:n.1380del
NM_001005735.2:c.1339del	NP_001005735.1:p.Tyr447IlefsTer10
NM_001257387.2:c.547del	NP_001244316.1:p.Tyr183IlefsTer10
NM_001349956.2:c.1009del	NP_001336885.1:p.Tyr337IlefsTer10