Canonical Allele Identifier: CA430627048
Gene: CASP8 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.202149540G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.201284817G>T , CM000664.2:g.201284817G>T GRCh38
NC_000002.11:g.202149540G>T , CM000664.1:g.202149540G>T GRCh37
NC_000002.10:g.201857785G>T NCBI36
NG_007497.1:g.56360G>T , LRG_34:g.56360G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000413726.6:c.804G>T ENSP00000397528.2:p.Gly268=
ENST00000440732.6:c.804G>T ENSP00000396869.2:p.Gly268=
ENST00000444430.3:c.552G>T ENSP00000394434.3:p.Gly184=
ENST00000450491.6:c.450G>T ENSP00000391709.2:p.Gly150=
ENST00000696067.1:c.804G>T ENSP00000512369.1:p.Gly268=
ENST00000696068.1:c.*31G>T ENSP00000512370.1:n.*31G>T
ENST00000696069.1:c.759G>T ENSP00000512371.1:p.Gly253=
ENST00000696085.1:c.936G>T ENSP00000512381.1:p.Gly312=
ENST00000696086.1:n.78G>T
ENST00000696087.1:c.759G>T ENSP00000512382.1:p.Gly253=
ENST00000673742.1:c.804G>T MANE Select ENSP00000501268.1:p.Gly268=
ENST00000264274.13:c.552G>T ENSP00000264274.9:p.Gly184=
ENST00000264275.9:c.855G>T ENSP00000264275.5:p.Gly285=
ENST00000323492.11:c.759G>T ENSP00000325722.7:p.Gly253=
ENST00000339403.6:n.1025G>T
ENST00000358485.8:c.981G>T ENSP00000351273.4:p.Gly327=
ENST00000392263.6:c.759G>T ENSP00000376091.2:p.Gly253=
ENST00000432109.6:c.804G>T ENSP00000412523.2:p.Gly268=
ENST00000444430.2:c.141G>T ENSP00000394434.2:p.Gly47=
NM_001080124.1:c.759G>T NP_001073593.1:p.Gly253=
NM_001080125.1:c.981G>T NP_001073594.1:p.Gly327=
NM_001228.4:c.855G>T , LRG_34t1:c.855G>T NP_001219.2:p.Gly285=
NM_033355.3:c.804G>T , LRG_34t2:c.804G>T NP_203519.1:p.Gly268=
NM_033356.3:c.759G>T NP_203520.1:p.Gly253=
NR_111983.1:n.1318G>T
XM_005246885.1:c.936G>T XP_005246942.1:p.Gly312=
XM_005246886.1:c.804G>T XP_005246943.1:p.Gly268=
XM_005246887.1:c.804G>T XP_005246944.1:p.Gly268=
XM_005246888.1:c.804G>T XP_005246945.1:p.Gly268=
XM_005246889.1:c.804G>T XP_005246946.1:p.Gly268=
XM_005246890.2:c.804G>T XP_005246947.1:p.Gly268=
XM_005246891.3:c.804G>T XP_005246948.1:p.Gly268=
XM_005246892.1:c.759G>T XP_005246949.1:p.Gly253=
XM_005246893.2:c.*31G>T XP_005246950.1:n.*31G>T
XM_005246894.2:c.207G>T XP_005246951.1:p.Gly69=
XM_005246895.2:c.*31G>T XP_005246952.1:n.*31G>T
XM_006712789.1:c.804G>T XP_006712852.1:p.Gly268=
XM_006712790.2:c.804G>T XP_006712853.1:p.Gly268=
XM_006712791.1:c.729G>T XP_006712854.1:p.Gly243=
XM_006712793.2:c.*31G>T XP_006712856.1:n.*31G>T
XM_011511969.1:c.369G>T XP_011510271.1:p.Gly123=
XR_923035.1:n.1073G>T
XM_005246885.2:c.936G>T XP_005246942.1:p.Gly312=
XM_005246886.2:c.804G>T XP_005246943.1:p.Gly268=
XM_005246887.2:c.804G>T XP_005246944.1:p.Gly268=
XM_005246888.2:c.804G>T XP_005246945.1:p.Gly268=
XM_005246889.2:c.804G>T XP_005246946.1:p.Gly268=
XM_005246890.4:c.804G>T XP_005246947.1:p.Gly268=
XM_005246891.5:c.804G>T XP_005246948.1:p.Gly268=
XM_005246892.2:c.759G>T XP_005246949.1:p.Gly253=
XM_005246893.3:c.*31G>T XP_005246950.1:n.*31G>T
XM_005246894.4:c.207G>T XP_005246951.1:p.Gly69=
XM_005246895.3:c.*31G>T XP_005246952.1:n.*31G>T
XM_006712789.2:c.804G>T XP_006712852.1:p.Gly268=
XM_006712790.4:c.804G>T XP_006712853.1:p.Gly268=
XM_006712793.3:c.*31G>T XP_006712856.1:n.*31G>T
XM_011511969.2:c.369G>T XP_011510271.1:p.Gly123=
XR_001738971.1:n.1151G>T
NM_001080124.2:c.759G>T NP_001073593.1:p.Gly253=
NM_001080125.2:c.981G>T NP_001073594.1:p.Gly327=
NM_001372051.1:c.804G>T MANE Select NP_001358980.1:p.Gly268=
NM_033356.4:c.759G>T NP_203520.1:p.Gly253=
NR_111983.2:n.1314G>T
NM_001400642.1:c.936G>T NP_001387571.1:p.Gly312=
NM_001400645.1:c.837G>T NP_001387574.1:p.Gly279=
NM_001400648.1:c.804G>T NP_001387577.1:p.Gly268=
NM_001400651.1:c.804G>T NP_001387580.1:p.Gly268=
NM_001400653.1:c.804G>T NP_001387582.1:p.Gly268=
NM_001400654.1:c.804G>T NP_001387583.1:p.Gly268=
NM_001400655.1:c.804G>T NP_001387584.1:p.Gly268=
NM_001400656.1:c.804G>T NP_001387585.1:p.Gly268=
NM_001400657.1:c.804G>T NP_001387586.1:p.Gly268=
NM_001400658.1:c.759G>T NP_001387587.1:p.Gly253=
NM_001400659.1:c.759G>T NP_001387588.1:p.Gly253=
NM_001400660.1:c.759G>T NP_001387589.1:p.Gly253=
NM_001400661.1:c.759G>T NP_001387590.1:p.Gly253=
NM_001400662.1:c.759G>T NP_001387591.1:p.Gly253=
NM_001400663.1:c.759G>T NP_001387592.1:p.Gly253=
NM_001400664.1:c.735G>T NP_001387593.1:p.Gly245=
NM_001400665.1:c.729G>T NP_001387594.1:p.Gly243=
NM_001400666.1:c.597G>T NP_001387595.1:p.Gly199=
NM_001400667.1:c.552G>T NP_001387596.1:p.Gly184=
NM_001400668.1:c.552G>T NP_001387597.1:p.Gly184=
NM_001400669.1:c.495G>T NP_001387598.1:p.Gly165=
NM_001400670.1:c.803-446G>T NP_001387599.1:n.803-446G>T
NM_001400671.1:c.207G>T NP_001387600.1:p.Gly69=
NM_001400672.1:c.207G>T NP_001387601.1:p.Gly69=
NM_001400673.1:c.207G>T NP_001387602.1:p.Gly69=
NM_001400674.1:c.189G>T NP_001387603.1:p.Gly63=
NM_001400675.1:c.162G>T NP_001387604.1:p.Gly54=
NM_001400676.1:c.162G>T NP_001387605.1:p.Gly54=
NM_001400677.1:c.162G>T NP_001387606.1:p.Gly54=
NM_001400678.1:c.162G>T NP_001387607.1:p.Gly54=
NM_001400680.1:c.189G>T NP_001387609.1:p.Gly63=
NM_001400750.1:c.207G>T NP_001387679.1:p.Gly69=
NM_001400751.1:c.162G>T NP_001387680.1:p.Gly54=
NR_174564.1:n.893G>T
NR_174565.1:n.1023G>T
NR_174581.1:n.1049G>T
NR_174583.1:n.1155G>T
NR_174584.1:n.1068G>T
NR_174585.1:n.1086G>T
NR_174586.1:n.1060G>T
NR_174588.1:n.1223G>T
NR_174589.1:n.1018G>T
NR_174590.1:n.1110G>T
NR_174591.1:n.1041G>T
NR_174592.1:n.1386G>T
NR_174593.1:n.1184G>T
NR_174594.1:n.1227G>T
NR_174595.1:n.1142G>T
NR_174596.1:n.979G>T
NR_174598.1:n.1337G>T
NR_174599.1:n.721G>T
NR_174600.1:n.1249G>T
NR_174601.1:n.1174G>T
NR_174602.1:n.1044G>T