Canonical Allele Identifier: CA16621063
Gene: CHEK2 HGNC NCBI

Linked Data

ClinVar Variation Id: 423258
ClinVar RCV Id: RCV000478216
dbSNP Id: rs1555915491

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.28699912dup , CM000684.2:g.28699912dup GRCh38
NC_000022.10:g.29095900dup , CM000684.1:g.29095900dup GRCh37
NC_000022.9:g.27425900dup NCBI36
NG_008150.1:g.46925dup
NG_008150.2:g.46957dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000439346.6:c.845dup ENSP00000396903.2:n.845dup
ENST00000711048.1:c.936dup ENSP00000518557.1:p.Val313SerfsTer5
ENST00000402731.6:c.735dup ENSP00000384835.2:p.Val246SerfsTer5
ENST00000404276.6:c.936dup MANE Select ENSP00000385747.1:p.Val313SerfsTer5
ENST00000425190.7:c.273dup ENSP00000390244.2:p.Val92SerfsTer5
ENST00000464581.6:c.276dup ENSP00000483777.2:p.Val93SerfsTer5
ENST00000648295.1:n.488dup
ENST00000649563.1:c.273dup ENSP00000496928.1:p.Val92SerfsTer5
ENST00000650281.1:c.936dup ENSP00000497000.1:p.Val313SerfsTer5
ENST00000328354.10:c.936dup ENSP00000329178.6:p.Val313SerfsTer5
ENST00000348295.7:c.936dup ENSP00000329012.5:p.Val313SerfsTer5
ENST00000382580.6:c.1065dup ENSP00000372023.2:p.Val356SerfsTer5
ENST00000402731.5:c.936dup ENSP00000384835.1:p.Val313SerfsTer5
ENST00000403642.5:c.663dup ENSP00000384919.1:p.Val222SerfsTer5
ENST00000404276.5:c.936dup ENSP00000385747.1:p.Val313SerfsTer5
ENST00000405598.5:c.936dup ENSP00000386087.1:p.Val313SerfsTer5
ENST00000416671.5:c.*426dup ENSP00000402225.1:n.*426dup
ENST00000417588.5:c.845dup ENSP00000412901.1:n.845dup
ENST00000425190.6:c.273dup ENSP00000390244.1:p.Val92SerfsTer5
ENST00000433028.6:c.*661dup ENSP00000403659.1:n.*661dup
ENST00000433728.5:c.874dup ENSP00000404400.1:n.874dup
ENST00000434810.5:c.167dup
ENST00000439346.5:c.407dup ENSP00000396903.1:n.407dup
ENST00000447421.5:c.735dup ENSP00000397478.2:p.Val246SerfsTer5
ENST00000448511.5:c.826dup ENSP00000404567.1:n.826dup
ENST00000456369.5:c.191dup
ENST00000464581.5:c.276dup ENSP00000483777.1:p.Val93SerfsTer5
ENST00000491919.5:n.493dup
NM_001005735.1:c.1065dup NP_001005735.1:p.Val356SerfsTer5
NM_001257387.1:c.273dup NP_001244316.1:p.Val92SerfsTer5
NM_007194.3:c.936dup NP_009125.1:p.Val313SerfsTer5
NM_145862.2:c.936dup NP_665861.1:p.Val313SerfsTer5
XM_006724114.2:c.456dup XP_006724177.1:p.Val153SerfsTer5
XM_006724116.2:c.393dup XP_006724179.2:p.Val132SerfsTer5
XM_011529839.1:c.1095dup XP_011528141.1:p.Val366SerfsTer5
XM_011529840.1:c.1095dup XP_011528142.1:p.Val366SerfsTer5
XM_011529841.1:c.864dup XP_011528143.1:p.Val289SerfsTer5
XM_011529842.1:c.765dup XP_011528144.1:p.Val256SerfsTer5
XM_011529843.1:c.735dup XP_011528145.1:p.Val246SerfsTer5
XM_011529844.1:c.1095dup XP_011528146.1:p.Val366SerfsTer5
XM_011529845.1:c.273dup XP_011528147.1:p.Val92SerfsTer5
XR_937805.1:n.1095dup
XR_937806.1:n.1090dup
XR_937807.1:n.1090dup
NM_001349956.1:c.735dup NP_001336885.1:p.Val246SerfsTer5
NM_007194.4:c.936dup MANE Select NP_009125.1:p.Val313SerfsTer5
XM_006724114.3:c.489dup XP_006724177.2:p.Val164SerfsTer5
XM_011529839.2:c.1095dup XP_011528141.1:p.Val366SerfsTer5
XM_011529840.3:c.1095dup XP_011528142.1:p.Val366SerfsTer5
XM_011529842.2:c.765dup XP_011528144.1:p.Val256SerfsTer5
XM_011529844.2:c.1095dup XP_011528146.1:p.Val366SerfsTer5
XM_011529845.2:c.273dup XP_011528147.1:p.Val92SerfsTer5
XM_017028560.1:c.1059dup XP_016884049.1:p.Val354SerfsTer5
XM_017028561.2:c.273dup XP_016884050.1:p.Val92SerfsTer5
XM_024452148.1:c.966dup XP_024307916.1:p.Val323SerfsTer5
XM_024452149.1:c.966dup XP_024307917.1:p.Val323SerfsTer5
XR_937805.2:n.1106dup
XR_937806.2:n.1106dup
XR_937807.2:n.1106dup
NM_001005735.2:c.1065dup NP_001005735.1:p.Val356SerfsTer5
NM_001257387.2:c.273dup NP_001244316.1:p.Val92SerfsTer5
NM_001349956.2:c.735dup NP_001336885.1:p.Val246SerfsTer5