Canonical Allele Identifier: CA658656845
Gene: CHEK2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.28703500C>T , CM000684.2:g.28703500C>T GRCh38
NC_000022.10:g.29099488C>T , CM000684.1:g.29099488C>T GRCh37
NC_000022.9:g.27429488C>T NCBI36
NG_008150.1:g.43335G>A
NG_008150.2:g.43367G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000439346.6:c.817+5G>A ENSP00000396903.2:n.817+5G>A
ENST00000711048.1:c.908+5G>A ENSP00000518557.1:n.908+5G>A
ENST00000402731.6:c.707+5G>A ENSP00000384835.2:n.707+5G>A
ENST00000404276.6:c.908+5G>A MANE Select ENSP00000385747.1:n.908+5G>A
ENST00000425190.7:c.245+5G>A ENSP00000390244.2:n.245+5G>A
ENST00000464581.6:c.248+5G>A ENSP00000483777.2:n.248+5G>A
ENST00000648295.1:n.460+5G>A
ENST00000649563.1:c.245+5G>A ENSP00000496928.1:n.245+5G>A
ENST00000650281.1:c.908+5G>A ENSP00000497000.1:n.908+5G>A
ENST00000328354.10:c.908+5G>A ENSP00000329178.6:n.908+5G>A
ENST00000348295.7:c.908+5G>A ENSP00000329012.5:n.908+5G>A
ENST00000382580.6:c.1037+5G>A ENSP00000372023.2:n.1037+5G>A
ENST00000402731.5:c.908+5G>A ENSP00000384835.1:n.908+5G>A
ENST00000403642.5:c.635+5G>A ENSP00000384919.1:n.635+5G>A
ENST00000404276.5:c.908+5G>A ENSP00000385747.1:n.908+5G>A
ENST00000405598.5:c.908+5G>A ENSP00000386087.1:n.908+5G>A
ENST00000416671.5:c.*398+5G>A ENSP00000402225.1:n.*398+5G>A
ENST00000417588.5:c.817+5G>A ENSP00000412901.1:n.817+5G>A
ENST00000425190.6:c.245+5G>A ENSP00000390244.1:n.245+5G>A
ENST00000433028.6:c.*633+5G>A ENSP00000403659.1:n.*633+5G>A
ENST00000433728.5:c.847-3563G>A ENSP00000404400.1:n.847-3563G>A
ENST00000434810.5:c.139+5G>A
ENST00000439346.5:c.379+5G>A ENSP00000396903.1:n.379+5G>A
ENST00000447421.5:c.707+5G>A ENSP00000397478.2:n.707+5G>A
ENST00000448511.5:c.798+5G>A ENSP00000404567.1:n.798+5G>A
ENST00000456369.5:c.163+5G>A
ENST00000464581.5:c.248+5G>A ENSP00000483777.1:n.248+5G>A
ENST00000491919.5:n.465+5G>A
NM_001005735.1:c.1037+5G>A NP_001005735.1:n.1037+5G>A
NM_001257387.1:c.245+5G>A NP_001244316.1:n.245+5G>A
NM_007194.3:c.908+5G>A NP_009125.1:n.908+5G>A
NM_145862.2:c.908+5G>A NP_665861.1:n.908+5G>A
XM_006724114.2:c.428+5G>A XP_006724177.1:n.428+5G>A
XM_006724116.2:c.365+5G>A XP_006724179.2:n.365+5G>A
XM_011529839.1:c.1067+5G>A XP_011528141.1:n.1067+5G>A
XM_011529840.1:c.1067+5G>A XP_011528142.1:n.1067+5G>A
XM_011529841.1:c.836+5G>A XP_011528143.1:n.836+5G>A
XM_011529842.1:c.737+5G>A XP_011528144.1:n.737+5G>A
XM_011529843.1:c.707+5G>A XP_011528145.1:n.707+5G>A
XM_011529844.1:c.1067+5G>A XP_011528146.1:n.1067+5G>A
XM_011529845.1:c.245+5G>A XP_011528147.1:n.245+5G>A
XR_937805.1:n.1068-3563G>A
XR_937806.1:n.1063-3563G>A
XR_937807.1:n.1063-3563G>A
NM_001349956.1:c.707+5G>A NP_001336885.1:n.707+5G>A
NM_007194.4:c.908+5G>A MANE Select NP_009125.1:n.908+5G>A
XM_006724114.3:c.461+5G>A XP_006724177.2:n.461+5G>A
XM_011529839.2:c.1067+5G>A XP_011528141.1:n.1067+5G>A
XM_011529840.3:c.1067+5G>A XP_011528142.1:n.1067+5G>A
XM_011529842.2:c.737+5G>A XP_011528144.1:n.737+5G>A
XM_011529844.2:c.1067+5G>A XP_011528146.1:n.1067+5G>A
XM_011529845.2:c.245+5G>A XP_011528147.1:n.245+5G>A
XM_017028560.1:c.1031+5G>A XP_016884049.1:n.1031+5G>A
XM_017028561.2:c.245+5G>A XP_016884050.1:n.245+5G>A
XM_024452148.1:c.938+5G>A XP_024307916.1:n.938+5G>A
XM_024452149.1:c.938+5G>A XP_024307917.1:n.938+5G>A
XR_937805.2:n.1079-3563G>A
XR_937806.2:n.1079-3563G>A
XR_937807.2:n.1079-3563G>A
NM_001005735.2:c.1037+5G>A NP_001005735.1:n.1037+5G>A
NM_001257387.2:c.245+5G>A NP_001244316.1:n.245+5G>A
NM_001349956.2:c.707+5G>A NP_001336885.1:n.707+5G>A
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