Canonical Allele Identifier: CA2695230480

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 3226048
• ClinVar RCV Id: RCV004517318

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28699866delinsCA , CM000684.2:g.28699866delinsCA	GRCh38
NC_000022.10:g.29095854delinsCA , CM000684.1:g.29095854delinsCA	GRCh37
NC_000022.9:g.27425854delinsCA	NCBI36
NG_008150.1:g.46969delinsTG
NG_008150.2:g.47001delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439346.6:c.889delinsTG	ENSP00000396903.2:n.889delinsTG
ENST00000711048.1:c.980delinsTG	ENSP00000518557.1:p.Tyr327LeufsTer27
ENST00000402731.6:c.779delinsTG	ENSP00000384835.2:p.Tyr260LeufsTer14
ENST00000404276.6:c.980delinsTG MANE Select	ENSP00000385747.1:p.Tyr327LeufsTer14
ENST00000425190.7:c.317delinsTG	ENSP00000390244.2:p.Tyr106LeufsTer14
ENST00000464581.6:c.320delinsTG	ENSP00000483777.2:p.Tyr107LeufsTer14
ENST00000648295.1:n.532delinsTG
ENST00000649563.1:c.317delinsTG	ENSP00000496928.1:p.Tyr106LeufsTer14
ENST00000650281.1:c.980delinsTG	ENSP00000497000.1:p.Tyr327LeufsTer14
ENST00000328354.10:c.980delinsTG	ENSP00000329178.6:p.Tyr327LeufsTer14
ENST00000348295.7:c.980delinsTG	ENSP00000329012.5:p.Tyr327LeufsTer13
ENST00000382580.6:c.1109delinsTG	ENSP00000372023.2:p.Tyr370LeufsTer14
ENST00000402731.5:c.980delinsTG	ENSP00000384835.1:p.Tyr327LeufsTer13
ENST00000403642.5:c.707delinsTG	ENSP00000384919.1:p.Tyr236LeufsTer14
ENST00000404276.5:c.980delinsTG	ENSP00000385747.1:p.Tyr327LeufsTer14
ENST00000405598.5:c.980delinsTG	ENSP00000386087.1:p.Tyr327LeufsTer14
ENST00000416671.5:c.*470delinsTG	ENSP00000402225.1:n.*470delinsTG
ENST00000417588.5:c.889delinsTG	ENSP00000412901.1:n.889delinsTG
ENST00000425190.6:c.317delinsTG	ENSP00000390244.1:p.Tyr106LeufsTer14
ENST00000433028.6:c.*705delinsTG	ENSP00000403659.1:n.*705delinsTG
ENST00000433728.5:c.918delinsTG	ENSP00000404400.1:n.918delinsTG
ENST00000434810.5:c.211delinsTG
ENST00000439346.5:c.451delinsTG	ENSP00000396903.1:n.451delinsTG
ENST00000447421.5:c.779delinsTG	ENSP00000397478.2:p.Tyr260LeufsTer14
ENST00000448511.5:c.870delinsTG	ENSP00000404567.1:n.870delinsTG
ENST00000456369.5:c.235delinsTG
ENST00000464581.5:c.320delinsTG	ENSP00000483777.1:p.Tyr107LeufsTer14
ENST00000491919.5:n.537delinsTG
NM_001005735.1:c.1109delinsTG	NP_001005735.1:p.Tyr370LeufsTer14
NM_001257387.1:c.317delinsTG	NP_001244316.1:p.Tyr106LeufsTer14
NM_007194.3:c.980delinsTG	NP_009125.1:p.Tyr327LeufsTer14
NM_145862.2:c.980delinsTG	NP_665861.1:p.Tyr327LeufsTer13
XM_006724114.2:c.500delinsTG	XP_006724177.1:p.Tyr167LeufsTer14
XM_006724116.2:c.437delinsTG	XP_006724179.2:p.Tyr146LeufsTer14
XM_011529839.1:c.1139delinsTG	XP_011528141.1:p.Tyr380LeufsTer14
XM_011529840.1:c.1139delinsTG	XP_011528142.1:p.Tyr380LeufsTer13
XM_011529841.1:c.908delinsTG	XP_011528143.1:p.Tyr303LeufsTer14
XM_011529842.1:c.809delinsTG	XP_011528144.1:p.Tyr270LeufsTer14
XM_011529843.1:c.779delinsTG	XP_011528145.1:p.Tyr260LeufsTer14
XM_011529844.1:c.1139delinsTG	XP_011528146.1:p.Tyr380LeufsTer?
XM_011529845.1:c.317delinsTG	XP_011528147.1:p.Tyr106LeufsTer14
XR_937805.1:n.1139delinsTG
XR_937806.1:n.1134delinsTG
XR_937807.1:n.1134delinsTG
NM_001349956.1:c.779delinsTG	NP_001336885.1:p.Tyr260LeufsTer14
NM_007194.4:c.980delinsTG MANE Select	NP_009125.1:p.Tyr327LeufsTer14
XM_006724114.3:c.533delinsTG	XP_006724177.2:p.Tyr178LeufsTer14
XM_011529839.2:c.1139delinsTG	XP_011528141.1:p.Tyr380LeufsTer14
XM_011529840.3:c.1139delinsTG	XP_011528142.1:p.Tyr380LeufsTer13
XM_011529842.2:c.809delinsTG	XP_011528144.1:p.Tyr270LeufsTer14
XM_011529844.2:c.1139delinsTG	XP_011528146.1:p.Tyr380LeufsTer?
XM_011529845.2:c.317delinsTG	XP_011528147.1:p.Tyr106LeufsTer14
XM_017028560.1:c.1103delinsTG	XP_016884049.1:p.Tyr368LeufsTer14
XM_017028561.2:c.317delinsTG	XP_016884050.1:p.Tyr106LeufsTer14
XM_024452148.1:c.1010delinsTG	XP_024307916.1:p.Tyr337LeufsTer14
XM_024452149.1:c.1010delinsTG	XP_024307917.1:p.Tyr337LeufsTer13
XR_937805.2:n.1150delinsTG
XR_937806.2:n.1150delinsTG
XR_937807.2:n.1150delinsTG
NM_001005735.2:c.1109delinsTG	NP_001005735.1:p.Tyr370LeufsTer14
NM_001257387.2:c.317delinsTG	NP_001244316.1:p.Tyr106LeufsTer14
NM_001349956.2:c.779delinsTG	NP_001336885.1:p.Tyr260LeufsTer14