Canonical Allele Identifier: CA2573054990

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 1338649
• ClinVar RCV Id: RCV001818020 ; RCV001869797
• dbSNP Id: rs2145803112

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28695764_28695768del , CM000684.2:g.28695764_28695768del	GRCh38
NC_000022.10:g.29091752_29091756del , CM000684.1:g.29091752_29091756del	GRCh37
NC_000022.9:g.27421752_27421756del	NCBI36
NG_008150.1:g.51067_51071del
NG_008150.2:g.51099_51103del

Transcript Alleles

HGVS	Amino-acid change
ENST00000711048.1:c.1009-526_1009-522del	ENSP00000518557.1:n.1009-526_1009-522del
ENST00000402731.6:c.1000_1004del	ENSP00000384835.2:p.Thr334TrpfsTer3
ENST00000404276.6:c.1201_1205del MANE Select	ENSP00000385747.1:p.Thr401TrpfsTer3
ENST00000425190.7:c.538_542del	ENSP00000390244.2:p.Thr180TrpfsTer3
ENST00000464581.6:c.541_545del	ENSP00000483777.2:p.Thr181TrpfsTer3
ENST00000648295.1:n.753_757del
ENST00000649563.1:c.538_542del	ENSP00000496928.1:p.Thr180TrpfsTer3
ENST00000650281.1:c.1201_1205del	ENSP00000497000.1:p.Thr401TrpfsTer3
ENST00000328354.10:c.1201_1205del	ENSP00000329178.6:p.Thr401TrpfsTer3
ENST00000348295.7:c.1114_1118del	ENSP00000329012.5:p.Thr372TrpfsTer3
ENST00000382580.6:c.1330_1334del	ENSP00000372023.2:p.Thr444TrpfsTer3
ENST00000402731.5:c.1114_1118del	ENSP00000384835.1:p.Thr372TrpfsTer3
ENST00000403642.5:c.928_932del	ENSP00000384919.1:p.Thr310TrpfsTer3
ENST00000404276.5:c.1201_1205del	ENSP00000385747.1:p.Thr401TrpfsTer3
ENST00000405598.5:c.1201_1205del	ENSP00000386087.1:p.Thr401TrpfsTer3
ENST00000416671.5:c.*691_*695del	ENSP00000402225.1:n.*691_*695del
ENST00000417588.5:c.1110_1114del	ENSP00000412901.1:n.1110_1114del
ENST00000433728.5:c.1139_1143del	ENSP00000404400.1:n.1139_1143del
ENST00000434810.5:c.432_436del
ENST00000448511.5:c.1091_1095del	ENSP00000404567.1:n.1091_1095del
ENST00000456369.5:c.263+4070_263+4074del
NM_001005735.1:c.1330_1334del	NP_001005735.1:p.Thr444TrpfsTer3
NM_001257387.1:c.538_542del	NP_001244316.1:p.Thr180TrpfsTer3
NM_007194.3:c.1201_1205del	NP_009125.1:p.Thr401TrpfsTer3
NM_145862.2:c.1114_1118del	NP_665861.1:p.Thr372TrpfsTer3
XM_006724114.2:c.721_725del	XP_006724177.1:p.Thr241TrpfsTer3
XM_006724116.2:c.658_662del	XP_006724179.2:p.Thr220TrpfsTer3
XM_011529839.1:c.1360_1364del	XP_011528141.1:p.Thr454TrpfsTer3
XM_011529840.1:c.1273_1277del	XP_011528142.1:p.Thr425TrpfsTer3
XM_011529841.1:c.1129_1133del	XP_011528143.1:p.Thr377TrpfsTer3
XM_011529842.1:c.1030_1034del	XP_011528144.1:p.Thr344TrpfsTer3
XM_011529843.1:c.1000_1004del	XP_011528145.1:p.Thr334TrpfsTer3
XM_011529845.1:c.538_542del	XP_011528147.1:p.Thr180TrpfsTer3
XR_937805.1:n.1360_1364del
NM_001349956.1:c.1000_1004del	NP_001336885.1:p.Thr334TrpfsTer3
NM_007194.4:c.1201_1205del MANE Select	NP_009125.1:p.Thr401TrpfsTer3
XM_006724114.3:c.754_758del	XP_006724177.2:p.Thr252TrpfsTer3
XM_011529839.2:c.1360_1364del	XP_011528141.1:p.Thr454TrpfsTer3
XM_011529840.3:c.1273_1277del	XP_011528142.1:p.Thr425TrpfsTer3
XM_011529842.2:c.1030_1034del	XP_011528144.1:p.Thr344TrpfsTer3
XM_011529845.2:c.538_542del	XP_011528147.1:p.Thr180TrpfsTer3
XM_017028560.1:c.1324_1328del	XP_016884049.1:p.Thr442TrpfsTer3
XM_017028561.2:c.538_542del	XP_016884050.1:p.Thr180TrpfsTer3
XM_024452148.1:c.1231_1235del	XP_024307916.1:p.Thr411TrpfsTer3
XM_024452149.1:c.1144_1148del	XP_024307917.1:p.Thr382TrpfsTer3
XR_937805.2:n.1371_1375del
NM_001005735.2:c.1330_1334del	NP_001005735.1:p.Thr444TrpfsTer3
NM_001257387.2:c.538_542del	NP_001244316.1:p.Thr180TrpfsTer3
NM_001349956.2:c.1000_1004del	NP_001336885.1:p.Thr334TrpfsTer3