Canonical Allele Identifier: CA350293580

Gene: CASP8

Linked Data

• dbSNP Id: rs2125318589
• MyVariant Identifiers: chr2:g.202141555G>T (hg19) ; chr2:g.201276832G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201276832G>T , CM000664.2:g.201276832G>T	GRCh38
NC_000002.11:g.202141555G>T , CM000664.1:g.202141555G>T	GRCh37
NC_000002.10:g.201849800G>T	NCBI36
NG_007497.1:g.48375G>T , LRG_34:g.48375G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413726.6:c.666G>T	ENSP00000397528.2:p.Leu222Phe
ENST00000440732.6:c.666G>T	ENSP00000396869.2:p.Leu222Phe
ENST00000444430.3:c.550+4056G>T	ENSP00000394434.3:n.550+4056G>T
ENST00000447616.6:c.556G>T	ENSP00000388306.2:p.Gly186Ter
ENST00000450491.6:c.312G>T	ENSP00000391709.2:p.Leu104Phe
ENST00000696067.1:c.666G>T	ENSP00000512369.1:p.Leu222Phe
ENST00000696068.1:c.556G>T	ENSP00000512370.1:p.Gly186Ter
ENST00000696069.1:c.621G>T	ENSP00000512371.1:p.Leu207Phe
ENST00000696085.1:c.798G>T	ENSP00000512381.1:p.Leu266Phe
ENST00000696087.1:c.621G>T	ENSP00000512382.1:p.Leu207Phe
ENST00000673742.1:c.666G>T MANE Select	ENSP00000501268.1:p.Leu222Phe
ENST00000264274.13:c.550+4056G>T	ENSP00000264274.9:n.550+4056G>T
ENST00000264275.9:c.717G>T	ENSP00000264275.5:p.Leu239Phe
ENST00000323492.11:c.621G>T	ENSP00000325722.7:p.Leu207Phe
ENST00000339403.6:n.751G>T
ENST00000358485.8:c.843G>T	ENSP00000351273.4:p.Leu281Phe
ENST00000392258.7:c.601G>T	ENSP00000376087.3:p.Gly201Ter
ENST00000392263.6:c.621G>T	ENSP00000376091.2:p.Leu207Phe
ENST00000392266.7:c.621G>T	ENSP00000376094.4:p.Leu207Phe
ENST00000424461.5:c.145G>T	ENSP00000390346.1:p.Gly49Ter
ENST00000432109.6:c.666G>T	ENSP00000412523.2:p.Leu222Phe
ENST00000444430.2:c.139+4056G>T	ENSP00000394434.2:n.139+4056G>T
ENST00000447616.5:c.556G>T	ENSP00000388306.1:p.Gly186Ter
ENST00000450491.5:c.312G>T	ENSP00000391709.1:p.Leu104Phe
NM_001080124.1:c.621G>T	NP_001073593.1:p.Leu207Phe
NM_001080125.1:c.843G>T	NP_001073594.1:p.Leu281Phe
NM_001228.4:c.717G>T , LRG_34t1:c.717G>T	NP_001219.2:p.Leu239Phe
NM_033355.3:c.666G>T , LRG_34t2:c.666G>T	NP_203519.1:p.Leu222Phe
NM_033356.3:c.621G>T	NP_203520.1:p.Leu207Phe
NM_033358.3:c.601G>T	NP_203522.1:p.Gly201Ter
NR_111983.1:n.1044G>T
XM_005246885.1:c.798G>T	XP_005246942.1:p.Leu266Phe
XM_005246886.1:c.666G>T	XP_005246943.1:p.Leu222Phe
XM_005246887.1:c.666G>T	XP_005246944.1:p.Leu222Phe
XM_005246888.1:c.666G>T	XP_005246945.1:p.Leu222Phe
XM_005246889.1:c.666G>T	XP_005246946.1:p.Leu222Phe
XM_005246890.2:c.666G>T	XP_005246947.1:p.Leu222Phe
XM_005246891.3:c.666G>T	XP_005246948.1:p.Leu222Phe
XM_005246892.1:c.621G>T	XP_005246949.1:p.Leu207Phe
XM_005246893.2:c.778G>T	XP_005246950.1:p.Gly260Ter
XM_005246894.2:c.69G>T	XP_005246951.1:p.Leu23Phe
XM_005246895.2:c.733G>T	XP_005246952.1:p.Gly245Ter
XM_006712789.1:c.666G>T	XP_006712852.1:p.Leu222Phe
XM_006712790.2:c.666G>T	XP_006712853.1:p.Leu222Phe
XM_006712791.1:c.727+4056G>T	XP_006712854.1:n.727+4056G>T
XM_006712793.2:c.601G>T	XP_006712856.1:p.Gly201Ter
XM_011511968.1:c.843G>T	XP_011510270.1:p.Leu281Phe
XM_011511969.1:c.231G>T	XP_011510271.1:p.Leu77Phe
XM_011511970.1:c.778G>T	XP_011510272.1:p.Gly260Ter
XR_923035.1:n.799G>T
XM_005246885.2:c.798G>T	XP_005246942.1:p.Leu266Phe
XM_005246886.2:c.666G>T	XP_005246943.1:p.Leu222Phe
XM_005246887.2:c.666G>T	XP_005246944.1:p.Leu222Phe
XM_005246888.2:c.666G>T	XP_005246945.1:p.Leu222Phe
XM_005246889.2:c.666G>T	XP_005246946.1:p.Leu222Phe
XM_005246890.4:c.666G>T	XP_005246947.1:p.Leu222Phe
XM_005246891.5:c.666G>T	XP_005246948.1:p.Leu222Phe
XM_005246892.2:c.621G>T	XP_005246949.1:p.Leu207Phe
XM_005246893.3:c.778G>T	XP_005246950.1:p.Gly260Ter
XM_005246894.4:c.69G>T	XP_005246951.1:p.Leu23Phe
XM_005246895.3:c.733G>T	XP_005246952.1:p.Gly245Ter
XM_006712789.2:c.666G>T	XP_006712852.1:p.Leu222Phe
XM_006712790.4:c.666G>T	XP_006712853.1:p.Leu222Phe
XM_006712793.3:c.601G>T	XP_006712856.1:p.Gly201Ter
XM_011511969.2:c.231G>T	XP_011510271.1:p.Leu77Phe
XR_001738971.1:n.877G>T
NM_001080124.2:c.621G>T	NP_001073593.1:p.Leu207Phe
NM_001080125.2:c.843G>T	NP_001073594.1:p.Leu281Phe
NM_001372051.1:c.666G>T MANE Select	NP_001358980.1:p.Leu222Phe
NM_033356.4:c.621G>T	NP_203520.1:p.Leu207Phe
NM_033358.4:c.601G>T	NP_203522.1:p.Gly201Ter
NR_111983.2:n.1040G>T
NM_001400642.1:c.798G>T	NP_001387571.1:p.Leu266Phe
NM_001400645.1:c.699G>T	NP_001387574.1:p.Leu233Phe
NM_001400648.1:c.666G>T	NP_001387577.1:p.Leu222Phe
NM_001400651.1:c.666G>T	NP_001387580.1:p.Leu222Phe
NM_001400653.1:c.666G>T	NP_001387582.1:p.Leu222Phe
NM_001400654.1:c.666G>T	NP_001387583.1:p.Leu222Phe
NM_001400655.1:c.666G>T	NP_001387584.1:p.Leu222Phe
NM_001400656.1:c.666G>T	NP_001387585.1:p.Leu222Phe
NM_001400657.1:c.666G>T	NP_001387586.1:p.Leu222Phe
NM_001400658.1:c.621G>T	NP_001387587.1:p.Leu207Phe
NM_001400659.1:c.621G>T	NP_001387588.1:p.Leu207Phe
NM_001400660.1:c.621G>T	NP_001387589.1:p.Leu207Phe
NM_001400661.1:c.621G>T	NP_001387590.1:p.Leu207Phe
NM_001400662.1:c.621G>T	NP_001387591.1:p.Leu207Phe
NM_001400663.1:c.621G>T	NP_001387592.1:p.Leu207Phe
NM_001400664.1:c.597G>T	NP_001387593.1:p.Leu199Phe
NM_001400665.1:c.727+4056G>T	NP_001387594.1:n.727+4056G>T
NM_001400666.1:c.595+3890G>T	NP_001387595.1:n.595+3890G>T
NM_001400667.1:c.550+4056G>T	NP_001387596.1:n.550+4056G>T
NM_001400668.1:c.550+4056G>T	NP_001387597.1:n.550+4056G>T
NM_001400669.1:c.357G>T	NP_001387598.1:p.Leu119Phe
NM_001400670.1:c.666G>T	NP_001387599.1:p.Leu222Phe
NM_001400671.1:c.69G>T	NP_001387600.1:p.Leu23Phe
NM_001400672.1:c.69G>T	NP_001387601.1:p.Leu23Phe
NM_001400673.1:c.69G>T	NP_001387602.1:p.Leu23Phe
NM_001400674.1:c.51G>T	NP_001387603.1:p.Leu17Phe
NM_001400675.1:c.24G>T	NP_001387604.1:p.Leu8Phe
NM_001400676.1:c.24G>T	NP_001387605.1:p.Leu8Phe
NM_001400677.1:c.24G>T	NP_001387606.1:p.Leu8Phe
NM_001400678.1:c.24G>T	NP_001387607.1:p.Leu8Phe
NM_001400679.1:c.601G>T	NP_001387608.1:p.Gly201Ter
NM_001400680.1:c.51G>T	NP_001387609.1:p.Leu17Phe
NM_001400750.1:c.69G>T	NP_001387679.1:p.Leu23Phe
NM_001400751.1:c.24G>T	NP_001387680.1:p.Leu8Phe
NR_174564.1:n.619G>T
NR_174565.1:n.749G>T
NR_174581.1:n.775G>T
NR_174583.1:n.881G>T
NR_174584.1:n.930G>T
NR_174585.1:n.812G>T
NR_174586.1:n.786G>T
NR_174588.1:n.949G>T
NR_174589.1:n.744G>T
NR_174590.1:n.836G>T
NR_174591.1:n.767G>T
NR_174592.1:n.1112G>T
NR_174593.1:n.910G>T
NR_174594.1:n.953G>T
NR_174595.1:n.868G>T
NR_174596.1:n.705G>T
NR_174598.1:n.1063G>T
NR_174599.1:n.719+1879G>T
NR_174600.1:n.975G>T
NR_174601.1:n.900G>T
NR_174602.1:n.770G>T