Canonical Allele Identifier: CA350294074

Gene: CASP8

Linked Data

• MyVariant Identifiers: chr2:g.202141602T>G (hg19) ; chr2:g.201276879T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201276879T>G , CM000664.2:g.201276879T>G	GRCh38
NC_000002.11:g.202141602T>G , CM000664.1:g.202141602T>G	GRCh37
NC_000002.10:g.201849847T>G	NCBI36
NG_007497.1:g.48422T>G , LRG_34:g.48422T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413726.6:c.713T>G	ENSP00000397528.2:p.Ile238Ser
ENST00000440732.6:c.713T>G	ENSP00000396869.2:p.Ile238Ser
ENST00000444430.3:c.550+4103T>G	ENSP00000394434.3:n.550+4103T>G
ENST00000447616.6:c.603T>G	ENSP00000388306.2:p.Asp201Glu
ENST00000450491.6:c.359T>G	ENSP00000391709.2:p.Ile120Ser
ENST00000696067.1:c.713T>G	ENSP00000512369.1:p.Ile238Ser
ENST00000696068.1:c.603T>G	ENSP00000512370.1:p.Asp201Glu
ENST00000696069.1:c.668T>G	ENSP00000512371.1:p.Ile223Ser
ENST00000696085.1:c.845T>G	ENSP00000512381.1:p.Ile282Ser
ENST00000696087.1:c.668T>G	ENSP00000512382.1:p.Ile223Ser
ENST00000673742.1:c.713T>G MANE Select	ENSP00000501268.1:p.Ile238Ser
ENST00000264274.13:c.550+4103T>G	ENSP00000264274.9:n.550+4103T>G
ENST00000264275.9:c.764T>G	ENSP00000264275.5:p.Ile255Ser
ENST00000323492.11:c.668T>G	ENSP00000325722.7:p.Ile223Ser
ENST00000339403.6:n.798T>G
ENST00000358485.8:c.890T>G	ENSP00000351273.4:p.Ile297Ser
ENST00000392258.7:c.648T>G	ENSP00000376087.3:p.Asp216Glu
ENST00000392263.6:c.668T>G	ENSP00000376091.2:p.Ile223Ser
ENST00000392266.7:c.668T>G	ENSP00000376094.4:p.Ile223Ser
ENST00000424461.5:c.192T>G	ENSP00000390346.1:p.Asp64Glu
ENST00000432109.6:c.713T>G	ENSP00000412523.2:p.Ile238Ser
ENST00000444430.2:c.139+4103T>G	ENSP00000394434.2:n.139+4103T>G
ENST00000447616.5:c.603T>G	ENSP00000388306.1:p.Asp201Glu
ENST00000450491.5:c.359T>G	ENSP00000391709.1:p.Ile120Ser
NM_001080124.1:c.668T>G	NP_001073593.1:p.Ile223Ser
NM_001080125.1:c.890T>G	NP_001073594.1:p.Ile297Ser
NM_001228.4:c.764T>G , LRG_34t1:c.764T>G	NP_001219.2:p.Ile255Ser
NM_033355.3:c.713T>G , LRG_34t2:c.713T>G	NP_203519.1:p.Ile238Ser
NM_033356.3:c.668T>G	NP_203520.1:p.Ile223Ser
NM_033358.3:c.648T>G	NP_203522.1:p.Asp216Glu
NR_111983.1:n.1091T>G
XM_005246885.1:c.845T>G	XP_005246942.1:p.Ile282Ser
XM_005246886.1:c.713T>G	XP_005246943.1:p.Ile238Ser
XM_005246887.1:c.713T>G	XP_005246944.1:p.Ile238Ser
XM_005246888.1:c.713T>G	XP_005246945.1:p.Ile238Ser
XM_005246889.1:c.713T>G	XP_005246946.1:p.Ile238Ser
XM_005246890.2:c.713T>G	XP_005246947.1:p.Ile238Ser
XM_005246891.3:c.713T>G	XP_005246948.1:p.Ile238Ser
XM_005246892.1:c.668T>G	XP_005246949.1:p.Ile223Ser
XM_005246893.2:c.825T>G	XP_005246950.1:p.Asp275Glu
XM_005246894.2:c.116T>G	XP_005246951.1:p.Ile39Ser
XM_005246895.2:c.780T>G	XP_005246952.1:p.Asp260Glu
XM_006712789.1:c.713T>G	XP_006712852.1:p.Ile238Ser
XM_006712790.2:c.713T>G	XP_006712853.1:p.Ile238Ser
XM_006712791.1:c.727+4103T>G	XP_006712854.1:n.727+4103T>G
XM_006712793.2:c.648T>G	XP_006712856.1:p.Asp216Glu
XM_011511968.1:c.890T>G	XP_011510270.1:p.Ile297Ser
XM_011511969.1:c.278T>G	XP_011510271.1:p.Ile93Ser
XM_011511970.1:c.825T>G	XP_011510272.1:p.Asp275Glu
XR_923035.1:n.846T>G
XM_005246885.2:c.845T>G	XP_005246942.1:p.Ile282Ser
XM_005246886.2:c.713T>G	XP_005246943.1:p.Ile238Ser
XM_005246887.2:c.713T>G	XP_005246944.1:p.Ile238Ser
XM_005246888.2:c.713T>G	XP_005246945.1:p.Ile238Ser
XM_005246889.2:c.713T>G	XP_005246946.1:p.Ile238Ser
XM_005246890.4:c.713T>G	XP_005246947.1:p.Ile238Ser
XM_005246891.5:c.713T>G	XP_005246948.1:p.Ile238Ser
XM_005246892.2:c.668T>G	XP_005246949.1:p.Ile223Ser
XM_005246893.3:c.825T>G	XP_005246950.1:p.Asp275Glu
XM_005246894.4:c.116T>G	XP_005246951.1:p.Ile39Ser
XM_005246895.3:c.780T>G	XP_005246952.1:p.Asp260Glu
XM_006712789.2:c.713T>G	XP_006712852.1:p.Ile238Ser
XM_006712790.4:c.713T>G	XP_006712853.1:p.Ile238Ser
XM_006712793.3:c.648T>G	XP_006712856.1:p.Asp216Glu
XM_011511969.2:c.278T>G	XP_011510271.1:p.Ile93Ser
XR_001738971.1:n.924T>G
NM_001080124.2:c.668T>G	NP_001073593.1:p.Ile223Ser
NM_001080125.2:c.890T>G	NP_001073594.1:p.Ile297Ser
NM_001372051.1:c.713T>G MANE Select	NP_001358980.1:p.Ile238Ser
NM_033356.4:c.668T>G	NP_203520.1:p.Ile223Ser
NM_033358.4:c.648T>G	NP_203522.1:p.Asp216Glu
NR_111983.2:n.1087T>G
NM_001400642.1:c.845T>G	NP_001387571.1:p.Ile282Ser
NM_001400645.1:c.746T>G	NP_001387574.1:p.Ile249Ser
NM_001400648.1:c.713T>G	NP_001387577.1:p.Ile238Ser
NM_001400651.1:c.713T>G	NP_001387580.1:p.Ile238Ser
NM_001400653.1:c.713T>G	NP_001387582.1:p.Ile238Ser
NM_001400654.1:c.713T>G	NP_001387583.1:p.Ile238Ser
NM_001400655.1:c.713T>G	NP_001387584.1:p.Ile238Ser
NM_001400656.1:c.713T>G	NP_001387585.1:p.Ile238Ser
NM_001400657.1:c.713T>G	NP_001387586.1:p.Ile238Ser
NM_001400658.1:c.668T>G	NP_001387587.1:p.Ile223Ser
NM_001400659.1:c.668T>G	NP_001387588.1:p.Ile223Ser
NM_001400660.1:c.668T>G	NP_001387589.1:p.Ile223Ser
NM_001400661.1:c.668T>G	NP_001387590.1:p.Ile223Ser
NM_001400662.1:c.668T>G	NP_001387591.1:p.Ile223Ser
NM_001400663.1:c.668T>G	NP_001387592.1:p.Ile223Ser
NM_001400664.1:c.644T>G	NP_001387593.1:p.Ile215Ser
NM_001400665.1:c.727+4103T>G	NP_001387594.1:n.727+4103T>G
NM_001400666.1:c.595+3937T>G	NP_001387595.1:n.595+3937T>G
NM_001400667.1:c.550+4103T>G	NP_001387596.1:n.550+4103T>G
NM_001400668.1:c.550+4103T>G	NP_001387597.1:n.550+4103T>G
NM_001400669.1:c.404T>G	NP_001387598.1:p.Ile135Ser
NM_001400670.1:c.713T>G	NP_001387599.1:p.Ile238Ser
NM_001400671.1:c.116T>G	NP_001387600.1:p.Ile39Ser
NM_001400672.1:c.116T>G	NP_001387601.1:p.Ile39Ser
NM_001400673.1:c.116T>G	NP_001387602.1:p.Ile39Ser
NM_001400674.1:c.98T>G	NP_001387603.1:p.Ile33Ser
NM_001400675.1:c.71T>G	NP_001387604.1:p.Ile24Ser
NM_001400676.1:c.71T>G	NP_001387605.1:p.Ile24Ser
NM_001400677.1:c.71T>G	NP_001387606.1:p.Ile24Ser
NM_001400678.1:c.71T>G	NP_001387607.1:p.Ile24Ser
NM_001400679.1:c.648T>G	NP_001387608.1:p.Asp216Glu
NM_001400680.1:c.98T>G	NP_001387609.1:p.Ile33Ser
NM_001400750.1:c.116T>G	NP_001387679.1:p.Ile39Ser
NM_001400751.1:c.71T>G	NP_001387680.1:p.Ile24Ser
NR_174564.1:n.666T>G
NR_174565.1:n.796T>G
NR_174581.1:n.822T>G
NR_174583.1:n.928T>G
NR_174584.1:n.977T>G
NR_174585.1:n.859T>G
NR_174586.1:n.833T>G
NR_174588.1:n.996T>G
NR_174589.1:n.791T>G
NR_174590.1:n.883T>G
NR_174591.1:n.814T>G
NR_174592.1:n.1159T>G
NR_174593.1:n.957T>G
NR_174594.1:n.1000T>G
NR_174595.1:n.915T>G
NR_174596.1:n.752T>G
NR_174598.1:n.1110T>G
NR_174599.1:n.719+1926T>G
NR_174600.1:n.1022T>G
NR_174601.1:n.947T>G
NR_174602.1:n.817T>G