Canonical Allele Identifier: CA2400238364
Gene: CHEK2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2452083
ClinVar RCV Id: RCV003172177
dbSNP Id: rs2052566665

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.28695869dup , CM000684.2:g.28695869dup GRCh38
NC_000022.10:g.29091857dup , CM000684.1:g.29091857dup GRCh37
NC_000022.9:g.27421857dup NCBI36
NG_008150.1:g.50966dup
NG_008150.2:g.50998dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000711048.1:c.1009-627dup ENSP00000518557.1:n.1009-627dup
ENST00000402731.6:c.899dup ENSP00000384835.2:p.Asp301Ter
ENST00000404276.6:c.1100dup MANE Select ENSP00000385747.1:p.Asp368Ter
ENST00000425190.7:c.437dup ENSP00000390244.2:p.Asp147Ter
ENST00000464581.6:c.440dup ENSP00000483777.2:p.Asp148Ter
ENST00000648295.1:n.652dup
ENST00000649563.1:c.437dup ENSP00000496928.1:p.Asp147Ter
ENST00000650281.1:c.1100dup ENSP00000497000.1:p.Asp368Ter
ENST00000328354.10:c.1100dup ENSP00000329178.6:p.Asp368Ter
ENST00000348295.7:c.1013dup ENSP00000329012.5:p.Asp339Ter
ENST00000382580.6:c.1229dup ENSP00000372023.2:p.Asp411Ter
ENST00000402731.5:c.1013dup ENSP00000384835.1:p.Asp339Ter
ENST00000403642.5:c.827dup ENSP00000384919.1:p.Asp277Ter
ENST00000404276.5:c.1100dup ENSP00000385747.1:p.Asp368Ter
ENST00000405598.5:c.1100dup ENSP00000386087.1:p.Asp368Ter
ENST00000416671.5:c.*590dup ENSP00000402225.1:n.*590dup
ENST00000417588.5:c.1009dup ENSP00000412901.1:n.1009dup
ENST00000433728.5:c.1038dup ENSP00000404400.1:n.1038dup
ENST00000434810.5:c.331dup
ENST00000448511.5:c.990dup ENSP00000404567.1:n.990dup
ENST00000456369.5:c.263+3969dup
NM_001005735.1:c.1229dup NP_001005735.1:p.Asp411Ter
NM_001257387.1:c.437dup NP_001244316.1:p.Asp147Ter
NM_007194.3:c.1100dup NP_009125.1:p.Asp368Ter
NM_145862.2:c.1013dup NP_665861.1:p.Asp339Ter
XM_006724114.2:c.620dup XP_006724177.1:p.Asp208Ter
XM_006724116.2:c.557dup XP_006724179.2:p.Asp187Ter
XM_011529839.1:c.1259dup XP_011528141.1:p.Asp421Ter
XM_011529840.1:c.1172dup XP_011528142.1:p.Asp392Ter
XM_011529841.1:c.1028dup XP_011528143.1:p.Asp344Ter
XM_011529842.1:c.929dup XP_011528144.1:p.Asp311Ter
XM_011529843.1:c.899dup XP_011528145.1:p.Asp301Ter
XM_011529845.1:c.437dup XP_011528147.1:p.Asp147Ter
XR_937805.1:n.1259dup
XR_937806.1:n.1167dup
NM_001349956.1:c.899dup NP_001336885.1:p.Asp301Ter
NM_007194.4:c.1100dup MANE Select NP_009125.1:p.Asp368Ter
XM_006724114.3:c.653dup XP_006724177.2:p.Asp219Ter
XM_011529839.2:c.1259dup XP_011528141.1:p.Asp421Ter
XM_011529840.3:c.1172dup XP_011528142.1:p.Asp392Ter
XM_011529842.2:c.929dup XP_011528144.1:p.Asp311Ter
XM_011529845.2:c.437dup XP_011528147.1:p.Asp147Ter
XM_017028560.1:c.1223dup XP_016884049.1:p.Asp409Ter
XM_017028561.2:c.437dup XP_016884050.1:p.Asp147Ter
XM_024452148.1:c.1130dup XP_024307916.1:p.Asp378Ter
XM_024452149.1:c.1043dup XP_024307917.1:p.Asp349Ter
XR_937805.2:n.1270dup
XR_937806.2:n.1183dup
NM_001005735.2:c.1229dup NP_001005735.1:p.Asp411Ter
NM_001257387.2:c.437dup NP_001244316.1:p.Asp147Ter
NM_001349956.2:c.899dup NP_001336885.1:p.Asp301Ter