Canonical Allele Identifier: CA2580615274

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 2566540
• ClinVar RCV Id: RCV003293692

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28695771del , CM000684.2:g.28695771del	GRCh38
NC_000022.10:g.29091759del , CM000684.1:g.29091759del	GRCh37
NC_000022.9:g.27421759del	NCBI36
NG_008150.1:g.51066del
NG_008150.2:g.51098del

Transcript Alleles

HGVS	Amino-acid change
ENST00000711048.1:c.1009-527del	ENSP00000518557.1:n.1009-527del
ENST00000402731.6:c.999del	ENSP00000384835.2:p.Thr334LeufsTer13
ENST00000404276.6:c.1200del MANE Select	ENSP00000385747.1:p.Thr401LeufsTer13
ENST00000425190.7:c.537del	ENSP00000390244.2:p.Thr180LeufsTer13
ENST00000464581.6:c.540del	ENSP00000483777.2:p.Thr181LeufsTer13
ENST00000648295.1:n.752del
ENST00000649563.1:c.537del	ENSP00000496928.1:p.Thr180LeufsTer13
ENST00000650281.1:c.1200del	ENSP00000497000.1:p.Thr401LeufsTer13
ENST00000328354.10:c.1200del	ENSP00000329178.6:p.Thr401LeufsTer13
ENST00000348295.7:c.1113del	ENSP00000329012.5:p.Thr372LeufsTer13
ENST00000382580.6:c.1329del	ENSP00000372023.2:p.Thr444LeufsTer13
ENST00000402731.5:c.1113del	ENSP00000384835.1:p.Thr372LeufsTer13
ENST00000403642.5:c.927del	ENSP00000384919.1:p.Thr310LeufsTer13
ENST00000404276.5:c.1200del	ENSP00000385747.1:p.Thr401LeufsTer13
ENST00000405598.5:c.1200del	ENSP00000386087.1:p.Thr401LeufsTer13
ENST00000416671.5:c.*690del	ENSP00000402225.1:n.*690del
ENST00000417588.5:c.1109del	ENSP00000412901.1:n.1109del
ENST00000433728.5:c.1138del	ENSP00000404400.1:n.1138del
ENST00000434810.5:c.431del
ENST00000448511.5:c.1090del	ENSP00000404567.1:n.1090del
ENST00000456369.5:c.263+4069del
NM_001005735.1:c.1329del	NP_001005735.1:p.Thr444LeufsTer13
NM_001257387.1:c.537del	NP_001244316.1:p.Thr180LeufsTer13
NM_007194.3:c.1200del	NP_009125.1:p.Thr401LeufsTer13
NM_145862.2:c.1113del	NP_665861.1:p.Thr372LeufsTer13
XM_006724114.2:c.720del	XP_006724177.1:p.Thr241LeufsTer13
XM_006724116.2:c.657del	XP_006724179.2:p.Thr220LeufsTer13
XM_011529839.1:c.1359del	XP_011528141.1:p.Thr454LeufsTer13
XM_011529840.1:c.1272del	XP_011528142.1:p.Thr425LeufsTer13
XM_011529841.1:c.1128del	XP_011528143.1:p.Thr377LeufsTer13
XM_011529842.1:c.1029del	XP_011528144.1:p.Thr344LeufsTer13
XM_011529843.1:c.999del	XP_011528145.1:p.Thr334LeufsTer13
XM_011529845.1:c.537del	XP_011528147.1:p.Thr180LeufsTer13
XR_937805.1:n.1359del
NM_001349956.1:c.999del	NP_001336885.1:p.Thr334LeufsTer13
NM_007194.4:c.1200del MANE Select	NP_009125.1:p.Thr401LeufsTer13
XM_006724114.3:c.753del	XP_006724177.2:p.Thr252LeufsTer13
XM_011529839.2:c.1359del	XP_011528141.1:p.Thr454LeufsTer13
XM_011529840.3:c.1272del	XP_011528142.1:p.Thr425LeufsTer13
XM_011529842.2:c.1029del	XP_011528144.1:p.Thr344LeufsTer13
XM_011529845.2:c.537del	XP_011528147.1:p.Thr180LeufsTer13
XM_017028560.1:c.1323del	XP_016884049.1:p.Thr442LeufsTer13
XM_017028561.2:c.537del	XP_016884050.1:p.Thr180LeufsTer13
XM_024452148.1:c.1230del	XP_024307916.1:p.Thr411LeufsTer13
XM_024452149.1:c.1143del	XP_024307917.1:p.Thr382LeufsTer13
XR_937805.2:n.1370del
NM_001005735.2:c.1329del	NP_001005735.1:p.Thr444LeufsTer13
NM_001257387.2:c.537del	NP_001244316.1:p.Thr180LeufsTer13
NM_001349956.2:c.999del	NP_001336885.1:p.Thr334LeufsTer13