Canonical Allele Identifier: CA350298854

Gene: CASP8

Linked Data

• dbSNP Id: rs2125480903
• MyVariant Identifiers: chr2:g.202149596G>C (hg19) ; chr2:g.201284873G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201284873G>C , CM000664.2:g.201284873G>C	GRCh38
NC_000002.11:g.202149596G>C , CM000664.1:g.202149596G>C	GRCh37
NC_000002.10:g.201857841G>C	NCBI36
NG_007497.1:g.56416G>C , LRG_34:g.56416G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000413726.6:c.860G>C	ENSP00000397528.2:p.Cys287Ser
ENST00000440732.6:c.860G>C	ENSP00000396869.2:p.Cys287Ser
ENST00000444430.3:c.608G>C	ENSP00000394434.3:p.Cys203Ser
ENST00000450491.6:c.506G>C	ENSP00000391709.2:p.Cys169Ser
ENST00000696067.1:c.860G>C	ENSP00000512369.1:p.Cys287Ser
ENST00000696068.1:c.*87G>C	ENSP00000512370.1:n.*87G>C
ENST00000696069.1:c.815G>C	ENSP00000512371.1:p.Cys272Ser
ENST00000696085.1:c.992G>C	ENSP00000512381.1:p.Cys331Ser
ENST00000696086.1:n.134G>C
ENST00000696087.1:c.815G>C	ENSP00000512382.1:p.Cys272Ser
ENST00000673742.1:c.860G>C MANE Select	ENSP00000501268.1:p.Cys287Ser
ENST00000264274.13:c.608G>C	ENSP00000264274.9:p.Cys203Ser
ENST00000264275.9:c.911G>C	ENSP00000264275.5:p.Cys304Ser
ENST00000323492.11:c.815G>C	ENSP00000325722.7:p.Cys272Ser
ENST00000339403.6:n.1081G>C
ENST00000358485.8:c.1037G>C	ENSP00000351273.4:p.Cys346Ser
ENST00000392263.6:c.815G>C	ENSP00000376091.2:p.Cys272Ser
ENST00000432109.6:c.860G>C	ENSP00000412523.2:p.Cys287Ser
ENST00000444430.2:c.197G>C	ENSP00000394434.2:p.Cys66Ser
NM_001080124.1:c.815G>C	NP_001073593.1:p.Cys272Ser
NM_001080125.1:c.1037G>C	NP_001073594.1:p.Cys346Ser
NM_001228.4:c.911G>C , LRG_34t1:c.911G>C	NP_001219.2:p.Cys304Ser
NM_033355.3:c.860G>C , LRG_34t2:c.860G>C	NP_203519.1:p.Cys287Ser
NM_033356.3:c.815G>C	NP_203520.1:p.Cys272Ser
NR_111983.1:n.1374G>C
XM_005246885.1:c.992G>C	XP_005246942.1:p.Cys331Ser
XM_005246886.1:c.860G>C	XP_005246943.1:p.Cys287Ser
XM_005246887.1:c.860G>C	XP_005246944.1:p.Cys287Ser
XM_005246888.1:c.860G>C	XP_005246945.1:p.Cys287Ser
XM_005246889.1:c.860G>C	XP_005246946.1:p.Cys287Ser
XM_005246890.2:c.860G>C	XP_005246947.1:p.Cys287Ser
XM_005246891.3:c.860G>C	XP_005246948.1:p.Cys287Ser
XM_005246892.1:c.815G>C	XP_005246949.1:p.Cys272Ser
XM_005246893.2:c.*87G>C	XP_005246950.1:n.*87G>C
XM_005246894.2:c.263G>C	XP_005246951.1:p.Cys88Ser
XM_005246895.2:c.*87G>C	XP_005246952.1:n.*87G>C
XM_006712789.1:c.860G>C	XP_006712852.1:p.Cys287Ser
XM_006712790.2:c.860G>C	XP_006712853.1:p.Cys287Ser
XM_006712791.1:c.785G>C	XP_006712854.1:p.Cys262Ser
XM_006712793.2:c.*87G>C	XP_006712856.1:n.*87G>C
XM_011511969.1:c.425G>C	XP_011510271.1:p.Cys142Ser
XR_923035.1:n.1129G>C
XM_005246885.2:c.992G>C	XP_005246942.1:p.Cys331Ser
XM_005246886.2:c.860G>C	XP_005246943.1:p.Cys287Ser
XM_005246887.2:c.860G>C	XP_005246944.1:p.Cys287Ser
XM_005246888.2:c.860G>C	XP_005246945.1:p.Cys287Ser
XM_005246889.2:c.860G>C	XP_005246946.1:p.Cys287Ser
XM_005246890.4:c.860G>C	XP_005246947.1:p.Cys287Ser
XM_005246891.5:c.860G>C	XP_005246948.1:p.Cys287Ser
XM_005246892.2:c.815G>C	XP_005246949.1:p.Cys272Ser
XM_005246893.3:c.*87G>C	XP_005246950.1:n.*87G>C
XM_005246894.4:c.263G>C	XP_005246951.1:p.Cys88Ser
XM_005246895.3:c.*87G>C	XP_005246952.1:n.*87G>C
XM_006712789.2:c.860G>C	XP_006712852.1:p.Cys287Ser
XM_006712790.4:c.860G>C	XP_006712853.1:p.Cys287Ser
XM_006712793.3:c.*87G>C	XP_006712856.1:n.*87G>C
XM_011511969.2:c.425G>C	XP_011510271.1:p.Cys142Ser
XR_001738971.1:n.1207G>C
NM_001080124.2:c.815G>C	NP_001073593.1:p.Cys272Ser
NM_001080125.2:c.1037G>C	NP_001073594.1:p.Cys346Ser
NM_001372051.1:c.860G>C MANE Select	NP_001358980.1:p.Cys287Ser
NM_033356.4:c.815G>C	NP_203520.1:p.Cys272Ser
NR_111983.2:n.1370G>C
NM_001400642.1:c.992G>C	NP_001387571.1:p.Cys331Ser
NM_001400645.1:c.893G>C	NP_001387574.1:p.Cys298Ser
NM_001400648.1:c.860G>C	NP_001387577.1:p.Cys287Ser
NM_001400651.1:c.860G>C	NP_001387580.1:p.Cys287Ser
NM_001400653.1:c.860G>C	NP_001387582.1:p.Cys287Ser
NM_001400654.1:c.860G>C	NP_001387583.1:p.Cys287Ser
NM_001400655.1:c.860G>C	NP_001387584.1:p.Cys287Ser
NM_001400656.1:c.860G>C	NP_001387585.1:p.Cys287Ser
NM_001400657.1:c.860G>C	NP_001387586.1:p.Cys287Ser
NM_001400658.1:c.815G>C	NP_001387587.1:p.Cys272Ser
NM_001400659.1:c.815G>C	NP_001387588.1:p.Cys272Ser
NM_001400660.1:c.815G>C	NP_001387589.1:p.Cys272Ser
NM_001400661.1:c.815G>C	NP_001387590.1:p.Cys272Ser
NM_001400662.1:c.815G>C	NP_001387591.1:p.Cys272Ser
NM_001400663.1:c.815G>C	NP_001387592.1:p.Cys272Ser
NM_001400664.1:c.791G>C	NP_001387593.1:p.Cys264Ser
NM_001400665.1:c.785G>C	NP_001387594.1:p.Cys262Ser
NM_001400666.1:c.653G>C	NP_001387595.1:p.Cys218Ser
NM_001400667.1:c.608G>C	NP_001387596.1:p.Cys203Ser
NM_001400668.1:c.608G>C	NP_001387597.1:p.Cys203Ser
NM_001400669.1:c.551G>C	NP_001387598.1:p.Cys184Ser
NM_001400670.1:c.803-390G>C	NP_001387599.1:n.803-390G>C
NM_001400671.1:c.263G>C	NP_001387600.1:p.Cys88Ser
NM_001400672.1:c.263G>C	NP_001387601.1:p.Cys88Ser
NM_001400673.1:c.263G>C	NP_001387602.1:p.Cys88Ser
NM_001400674.1:c.245G>C	NP_001387603.1:p.Cys82Ser
NM_001400675.1:c.218G>C	NP_001387604.1:p.Cys73Ser
NM_001400676.1:c.218G>C	NP_001387605.1:p.Cys73Ser
NM_001400677.1:c.218G>C	NP_001387606.1:p.Cys73Ser
NM_001400678.1:c.218G>C	NP_001387607.1:p.Cys73Ser
NM_001400680.1:c.245G>C	NP_001387609.1:p.Cys82Ser
NM_001400750.1:c.263G>C	NP_001387679.1:p.Cys88Ser
NM_001400751.1:c.218G>C	NP_001387680.1:p.Cys73Ser
NR_174564.1:n.949G>C
NR_174565.1:n.1079G>C
NR_174581.1:n.1105G>C
NR_174583.1:n.1211G>C
NR_174584.1:n.1124G>C
NR_174585.1:n.1142G>C
NR_174586.1:n.1116G>C
NR_174588.1:n.1279G>C
NR_174589.1:n.1074G>C
NR_174590.1:n.1166G>C
NR_174591.1:n.1097G>C
NR_174592.1:n.1442G>C
NR_174593.1:n.1240G>C
NR_174594.1:n.1283G>C
NR_174595.1:n.1198G>C
NR_174596.1:n.1035G>C
NR_174598.1:n.1393G>C
NR_174599.1:n.777G>C
NR_174600.1:n.1305G>C
NR_174601.1:n.1230G>C
NR_174602.1:n.1100G>C