Canonical Allele Identifier: CA2499226068
Gene: CHEK2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1070086
ClinVar RCV Id: RCV001382114
dbSNP Id: rs2145816053

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.28696919_28696929del , CM000684.2:g.28696919_28696929del GRCh38
NC_000022.10:g.29092907_29092917del , CM000684.1:g.29092907_29092917del GRCh37
NC_000022.9:g.27422907_27422917del NCBI36
NG_008150.1:g.49906_49916del
NG_008150.2:g.49938_49948del

Transcript Alleles

HGVS Amino-acid Change
ENST00000711048.1:c.1009-1687_1009-1677del ENSP00000518557.1:n.1009-1687_1009-1677del
ENST00000402731.6:c.866_876del ENSP00000384835.2:p.Ser289Ter
ENST00000404276.6:c.1067_1077del MANE Select ENSP00000385747.1:p.Ser356Ter
ENST00000425190.7:c.404_414del ENSP00000390244.2:p.Ser135Ter
ENST00000464581.6:c.407_417del ENSP00000483777.2:p.Ser136Ter
ENST00000648295.1:n.619_629del
ENST00000649563.1:c.404_414del ENSP00000496928.1:p.Ser135Ter
ENST00000650281.1:c.1067_1077del ENSP00000497000.1:p.Ser356Ter
ENST00000328354.10:c.1067_1077del ENSP00000329178.6:p.Ser356Ter
ENST00000348295.7:c.1009-1056_1009-1046del ENSP00000329012.5:n.1009-1056_1009-1046del
ENST00000382580.6:c.1196_1206del ENSP00000372023.2:p.Ser399Ter
ENST00000402731.5:c.1009-1056_1009-1046del ENSP00000384835.1:n.1009-1056_1009-1046del
ENST00000403642.5:c.794_804del ENSP00000384919.1:p.Ser265Ter
ENST00000404276.5:c.1067_1077del ENSP00000385747.1:p.Ser356Ter
ENST00000405598.5:c.1067_1077del ENSP00000386087.1:p.Ser356Ter
ENST00000416671.5:c.*557_*567del ENSP00000402225.1:n.*557_*567del
ENST00000417588.5:c.976_986del ENSP00000412901.1:n.976_986del
ENST00000433028.6:c.*792_*802del ENSP00000403659.1:n.*792_*802del
ENST00000433728.5:c.1005_1015del ENSP00000404400.1:n.1005_1015del
ENST00000434810.5:c.298_308del
ENST00000447421.5:c.866_876del ENSP00000397478.2:p.Ser289Ter
ENST00000448511.5:c.957_967del ENSP00000404567.1:n.957_967del
ENST00000456369.5:c.263+2909_263+2919del
NM_001005735.1:c.1196_1206del NP_001005735.1:p.Ser399Ter
NM_001257387.1:c.404_414del NP_001244316.1:p.Ser135Ter
NM_007194.3:c.1067_1077del NP_009125.1:p.Ser356Ter
NM_145862.2:c.1009-1056_1009-1046del NP_665861.1:n.1009-1056_1009-1046del
XM_006724114.2:c.587_597del XP_006724177.1:p.Ser196Ter
XM_006724116.2:c.524_534del XP_006724179.2:p.Ser175Ter
XM_011529839.1:c.1226_1236del XP_011528141.1:p.Ser409Ter
XM_011529840.1:c.1168-1056_1168-1046del XP_011528142.1:n.1168-1056_1168-1046del
XM_011529841.1:c.995_1005del XP_011528143.1:p.Ser332Ter
XM_011529842.1:c.896_906del XP_011528144.1:p.Ser299Ter
XM_011529843.1:c.866_876del XP_011528145.1:p.Ser289Ter
XM_011529845.1:c.404_414del XP_011528147.1:p.Ser135Ter
XR_937805.1:n.1226_1236del
XR_937806.1:n.1163-1056_1163-1046del
NM_001349956.1:c.866_876del NP_001336885.1:p.Ser289Ter
NM_007194.4:c.1067_1077del MANE Select NP_009125.1:p.Ser356Ter
XM_006724114.3:c.620_630del XP_006724177.2:p.Ser207Ter
XM_011529839.2:c.1226_1236del XP_011528141.1:p.Ser409Ter
XM_011529840.3:c.1168-1056_1168-1046del XP_011528142.1:n.1168-1056_1168-1046del
XM_011529842.2:c.896_906del XP_011528144.1:p.Ser299Ter
XM_011529845.2:c.404_414del XP_011528147.1:p.Ser135Ter
XM_017028560.1:c.1190_1200del XP_016884049.1:p.Ser397Ter
XM_017028561.2:c.404_414del XP_016884050.1:p.Ser135Ter
XM_024452148.1:c.1097_1107del XP_024307916.1:p.Ser366Ter
XM_024452149.1:c.1039-1056_1039-1046del XP_024307917.1:n.1039-1056_1039-1046del
XR_937805.2:n.1237_1247del
XR_937806.2:n.1179-1056_1179-1046del
NM_001005735.2:c.1196_1206del NP_001005735.1:p.Ser399Ter
NM_001257387.2:c.404_414del NP_001244316.1:p.Ser135Ter
NM_001349956.2:c.866_876del NP_001336885.1:p.Ser289Ter