Canonical Allele Identifier: CA2582342816
Gene: CHEK2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2583395
ClinVar RCV Id: RCV003337066

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.28699865dup , CM000684.2:g.28699865dup GRCh38
NC_000022.10:g.29095853dup , CM000684.1:g.29095853dup GRCh37
NC_000022.9:g.27425853dup NCBI36
NG_008150.1:g.46974dup
NG_008150.2:g.47006dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000439346.6:c.894dup ENSP00000396903.2:n.894dup
ENST00000711048.1:c.985dup ENSP00000518557.1:p.Tyr329LeufsTer25
ENST00000402731.6:c.784dup ENSP00000384835.2:p.Tyr262LeufsTer12
ENST00000404276.6:c.985dup MANE Select ENSP00000385747.1:p.Tyr329LeufsTer12
ENST00000425190.7:c.322dup ENSP00000390244.2:p.Tyr108LeufsTer12
ENST00000464581.6:c.325dup ENSP00000483777.2:p.Tyr109LeufsTer12
ENST00000648295.1:n.537dup
ENST00000649563.1:c.322dup ENSP00000496928.1:p.Tyr108LeufsTer12
ENST00000650281.1:c.985dup ENSP00000497000.1:p.Tyr329LeufsTer12
ENST00000328354.10:c.985dup ENSP00000329178.6:p.Tyr329LeufsTer12
ENST00000348295.7:c.985dup ENSP00000329012.5:p.Tyr329LeufsTer11
ENST00000382580.6:c.1114dup ENSP00000372023.2:p.Tyr372LeufsTer12
ENST00000402731.5:c.985dup ENSP00000384835.1:p.Tyr329LeufsTer11
ENST00000403642.5:c.712dup ENSP00000384919.1:p.Tyr238LeufsTer12
ENST00000404276.5:c.985dup ENSP00000385747.1:p.Tyr329LeufsTer12
ENST00000405598.5:c.985dup ENSP00000386087.1:p.Tyr329LeufsTer12
ENST00000416671.5:c.*475dup ENSP00000402225.1:n.*475dup
ENST00000417588.5:c.894dup ENSP00000412901.1:n.894dup
ENST00000425190.6:c.322dup ENSP00000390244.1:p.Tyr108LeufsTer12
ENST00000433028.6:c.*710dup ENSP00000403659.1:n.*710dup
ENST00000433728.5:c.923dup ENSP00000404400.1:n.923dup
ENST00000434810.5:c.216dup
ENST00000439346.5:c.456dup ENSP00000396903.1:n.456dup
ENST00000447421.5:c.784dup ENSP00000397478.2:p.Tyr262LeufsTer12
ENST00000448511.5:c.875dup ENSP00000404567.1:n.875dup
ENST00000456369.5:c.240dup
ENST00000464581.5:c.325dup ENSP00000483777.1:p.Tyr109LeufsTer12
ENST00000491919.5:n.542dup
NM_001005735.1:c.1114dup NP_001005735.1:p.Tyr372LeufsTer12
NM_001257387.1:c.322dup NP_001244316.1:p.Tyr108LeufsTer12
NM_007194.3:c.985dup NP_009125.1:p.Tyr329LeufsTer12
NM_145862.2:c.985dup NP_665861.1:p.Tyr329LeufsTer11
XM_006724114.2:c.505dup XP_006724177.1:p.Tyr169LeufsTer12
XM_006724116.2:c.442dup XP_006724179.2:p.Tyr148LeufsTer12
XM_011529839.1:c.1144dup XP_011528141.1:p.Tyr382LeufsTer12
XM_011529840.1:c.1144dup XP_011528142.1:p.Tyr382LeufsTer11
XM_011529841.1:c.913dup XP_011528143.1:p.Tyr305LeufsTer12
XM_011529842.1:c.814dup XP_011528144.1:p.Tyr272LeufsTer12
XM_011529843.1:c.784dup XP_011528145.1:p.Tyr262LeufsTer12
XM_011529844.1:c.1144dup XP_011528146.1:p.Tyr382LeufsTer?
XM_011529845.1:c.322dup XP_011528147.1:p.Tyr108LeufsTer12
XR_937805.1:n.1144dup
XR_937806.1:n.1139dup
XR_937807.1:n.1139dup
NM_001349956.1:c.784dup NP_001336885.1:p.Tyr262LeufsTer12
NM_007194.4:c.985dup MANE Select NP_009125.1:p.Tyr329LeufsTer12
XM_006724114.3:c.538dup XP_006724177.2:p.Tyr180LeufsTer12
XM_011529839.2:c.1144dup XP_011528141.1:p.Tyr382LeufsTer12
XM_011529840.3:c.1144dup XP_011528142.1:p.Tyr382LeufsTer11
XM_011529842.2:c.814dup XP_011528144.1:p.Tyr272LeufsTer12
XM_011529844.2:c.1144dup XP_011528146.1:p.Tyr382LeufsTer?
XM_011529845.2:c.322dup XP_011528147.1:p.Tyr108LeufsTer12
XM_017028560.1:c.1108dup XP_016884049.1:p.Tyr370LeufsTer12
XM_017028561.2:c.322dup XP_016884050.1:p.Tyr108LeufsTer12
XM_024452148.1:c.1015dup XP_024307916.1:p.Tyr339LeufsTer12
XM_024452149.1:c.1015dup XP_024307917.1:p.Tyr339LeufsTer11
XR_937805.2:n.1155dup
XR_937806.2:n.1155dup
XR_937807.2:n.1155dup
NM_001005735.2:c.1114dup NP_001005735.1:p.Tyr372LeufsTer12
NM_001257387.2:c.322dup NP_001244316.1:p.Tyr108LeufsTer12
NM_001349956.2:c.784dup NP_001336885.1:p.Tyr262LeufsTer12