Canonical Allele Identifier: CA891844288

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 584467
• ClinVar RCV Id: RCV000708608 ; RCV003336160
• dbSNP Id: rs758677815
• gnomAD v4: 22-28695804-TG-T
• MyVariant Identifiers: chr22:g.29091793del (hg19) ; chr22:g.28695805del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28695809del , CM000684.2:g.28695809del	GRCh38
NC_000022.10:g.29091797del , CM000684.1:g.29091797del	GRCh37
NC_000022.9:g.27421797del	NCBI36
NG_008150.1:g.51030del
NG_008150.2:g.51062del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.1009-563del	ENSP00000518557.1:n.1009-563del
ENST00000402731.6:c.963del	ENSP00000384835.2:p.Thr322ProfsTer25
ENST00000404276.6:c.1164del MANE Select	ENSP00000385747.1:p.Thr389ProfsTer25
ENST00000425190.7:c.501del	ENSP00000390244.2:p.Thr168ProfsTer25
ENST00000464581.6:c.504del	ENSP00000483777.2:p.Thr169ProfsTer25
ENST00000648295.1:n.716del
ENST00000649563.1:c.501del	ENSP00000496928.1:p.Thr168ProfsTer25
ENST00000650281.1:c.1164del	ENSP00000497000.1:p.Thr389ProfsTer25
ENST00000328354.10:c.1164del	ENSP00000329178.6:p.Thr389ProfsTer25
ENST00000348295.7:c.1077del	ENSP00000329012.5:p.Thr360ProfsTer25
ENST00000382580.6:c.1293del	ENSP00000372023.2:p.Thr432ProfsTer25
ENST00000402731.5:c.1077del	ENSP00000384835.1:p.Thr360ProfsTer25
ENST00000403642.5:c.891del	ENSP00000384919.1:p.Thr298ProfsTer25
ENST00000404276.5:c.1164del	ENSP00000385747.1:p.Thr389ProfsTer25
ENST00000405598.5:c.1164del	ENSP00000386087.1:p.Thr389ProfsTer25
ENST00000416671.5:c.*654del	ENSP00000402225.1:n.*654del
ENST00000417588.5:c.1073del	ENSP00000412901.1:n.1073del
ENST00000433728.5:c.1102del	ENSP00000404400.1:n.1102del
ENST00000434810.5:c.395del
ENST00000448511.5:c.1054del	ENSP00000404567.1:n.1054del
ENST00000456369.5:c.263+4033del
NM_001005735.1:c.1293del	NP_001005735.1:p.Thr432ProfsTer25
NM_001257387.1:c.501del	NP_001244316.1:p.Thr168ProfsTer25
NM_007194.3:c.1164del	NP_009125.1:p.Thr389ProfsTer25
NM_145862.2:c.1077del	NP_665861.1:p.Thr360ProfsTer25
XM_006724114.2:c.684del	XP_006724177.1:p.Thr229ProfsTer25
XM_006724116.2:c.621del	XP_006724179.2:p.Thr208ProfsTer25
XM_011529839.1:c.1323del	XP_011528141.1:p.Thr442ProfsTer25
XM_011529840.1:c.1236del	XP_011528142.1:p.Thr413ProfsTer25
XM_011529841.1:c.1092del	XP_011528143.1:p.Thr365ProfsTer25
XM_011529842.1:c.993del	XP_011528144.1:p.Thr332ProfsTer25
XM_011529843.1:c.963del	XP_011528145.1:p.Thr322ProfsTer25
XM_011529845.1:c.501del	XP_011528147.1:p.Thr168ProfsTer25
XR_937805.1:n.1323del
XR_937806.1:n.1231del
NM_001349956.1:c.963del	NP_001336885.1:p.Thr322ProfsTer25
NM_007194.4:c.1164del MANE Select	NP_009125.1:p.Thr389ProfsTer25
XM_006724114.3:c.717del	XP_006724177.2:p.Thr240ProfsTer25
XM_011529839.2:c.1323del	XP_011528141.1:p.Thr442ProfsTer25
XM_011529840.3:c.1236del	XP_011528142.1:p.Thr413ProfsTer25
XM_011529842.2:c.993del	XP_011528144.1:p.Thr332ProfsTer25
XM_011529845.2:c.501del	XP_011528147.1:p.Thr168ProfsTer25
XM_017028560.1:c.1287del	XP_016884049.1:p.Thr430ProfsTer25
XM_017028561.2:c.501del	XP_016884050.1:p.Thr168ProfsTer25
XM_024452148.1:c.1194del	XP_024307916.1:p.Thr399ProfsTer25
XM_024452149.1:c.1107del	XP_024307917.1:p.Thr370ProfsTer25
XR_937805.2:n.1334del
XR_937806.2:n.1247del
NM_001005735.2:c.1293del	NP_001005735.1:p.Thr432ProfsTer25
NM_001257387.2:c.501del	NP_001244316.1:p.Thr168ProfsTer25
NM_001349956.2:c.963del	NP_001336885.1:p.Thr322ProfsTer25