Canonical Allele Identifier: CA350299102

Gene: CASP8

Linked Data

• MyVariant Identifiers: chr2:g.202149612C>G (hg19) ; chr2:g.201284889C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201284889C>G , CM000664.2:g.201284889C>G	GRCh38
NC_000002.11:g.202149612C>G , CM000664.1:g.202149612C>G	GRCh37
NC_000002.10:g.201857857C>G	NCBI36
NG_007497.1:g.56432C>G , LRG_34:g.56432C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413726.6:c.876C>G	ENSP00000397528.2:p.Ile292Met
ENST00000440732.6:c.876C>G	ENSP00000396869.2:p.Ile292Met
ENST00000444430.3:c.624C>G	ENSP00000394434.3:p.Ile208Met
ENST00000450491.6:c.522C>G	ENSP00000391709.2:p.Ile174Met
ENST00000696067.1:c.876C>G	ENSP00000512369.1:p.Ile292Met
ENST00000696068.1:c.*103C>G	ENSP00000512370.1:n.*103C>G
ENST00000696069.1:c.831C>G	ENSP00000512371.1:p.Ile277Met
ENST00000696085.1:c.1008C>G	ENSP00000512381.1:p.Ile336Met
ENST00000696086.1:n.150C>G
ENST00000696087.1:c.831C>G	ENSP00000512382.1:p.Ile277Met
ENST00000673742.1:c.876C>G MANE Select	ENSP00000501268.1:p.Ile292Met
ENST00000264274.13:c.624C>G	ENSP00000264274.9:p.Ile208Met
ENST00000264275.9:c.927C>G	ENSP00000264275.5:p.Ile309Met
ENST00000323492.11:c.831C>G	ENSP00000325722.7:p.Ile277Met
ENST00000339403.6:n.1097C>G
ENST00000358485.8:c.1053C>G	ENSP00000351273.4:p.Ile351Met
ENST00000392263.6:c.831C>G	ENSP00000376091.2:p.Ile277Met
ENST00000432109.6:c.876C>G	ENSP00000412523.2:p.Ile292Met
ENST00000444430.2:c.213C>G	ENSP00000394434.2:p.Ile71Met
NM_001080124.1:c.831C>G	NP_001073593.1:p.Ile277Met
NM_001080125.1:c.1053C>G	NP_001073594.1:p.Ile351Met
NM_001228.4:c.927C>G , LRG_34t1:c.927C>G	NP_001219.2:p.Ile309Met
NM_033355.3:c.876C>G , LRG_34t2:c.876C>G	NP_203519.1:p.Ile292Met
NM_033356.3:c.831C>G	NP_203520.1:p.Ile277Met
NR_111983.1:n.1390C>G
XM_005246885.1:c.1008C>G	XP_005246942.1:p.Ile336Met
XM_005246886.1:c.876C>G	XP_005246943.1:p.Ile292Met
XM_005246887.1:c.876C>G	XP_005246944.1:p.Ile292Met
XM_005246888.1:c.876C>G	XP_005246945.1:p.Ile292Met
XM_005246889.1:c.876C>G	XP_005246946.1:p.Ile292Met
XM_005246890.2:c.876C>G	XP_005246947.1:p.Ile292Met
XM_005246891.3:c.876C>G	XP_005246948.1:p.Ile292Met
XM_005246892.1:c.831C>G	XP_005246949.1:p.Ile277Met
XM_005246893.2:c.*103C>G	XP_005246950.1:n.*103C>G
XM_005246894.2:c.279C>G	XP_005246951.1:p.Ile93Met
XM_005246895.2:c.*103C>G	XP_005246952.1:n.*103C>G
XM_006712789.1:c.876C>G	XP_006712852.1:p.Ile292Met
XM_006712790.2:c.876C>G	XP_006712853.1:p.Ile292Met
XM_006712791.1:c.801C>G	XP_006712854.1:p.Ile267Met
XM_006712793.2:c.*103C>G	XP_006712856.1:n.*103C>G
XM_011511969.1:c.441C>G	XP_011510271.1:p.Ile147Met
XR_923035.1:n.1145C>G
XM_005246885.2:c.1008C>G	XP_005246942.1:p.Ile336Met
XM_005246886.2:c.876C>G	XP_005246943.1:p.Ile292Met
XM_005246887.2:c.876C>G	XP_005246944.1:p.Ile292Met
XM_005246888.2:c.876C>G	XP_005246945.1:p.Ile292Met
XM_005246889.2:c.876C>G	XP_005246946.1:p.Ile292Met
XM_005246890.4:c.876C>G	XP_005246947.1:p.Ile292Met
XM_005246891.5:c.876C>G	XP_005246948.1:p.Ile292Met
XM_005246892.2:c.831C>G	XP_005246949.1:p.Ile277Met
XM_005246893.3:c.*103C>G	XP_005246950.1:n.*103C>G
XM_005246894.4:c.279C>G	XP_005246951.1:p.Ile93Met
XM_005246895.3:c.*103C>G	XP_005246952.1:n.*103C>G
XM_006712789.2:c.876C>G	XP_006712852.1:p.Ile292Met
XM_006712790.4:c.876C>G	XP_006712853.1:p.Ile292Met
XM_006712793.3:c.*103C>G	XP_006712856.1:n.*103C>G
XM_011511969.2:c.441C>G	XP_011510271.1:p.Ile147Met
XR_001738971.1:n.1223C>G
NM_001080124.2:c.831C>G	NP_001073593.1:p.Ile277Met
NM_001080125.2:c.1053C>G	NP_001073594.1:p.Ile351Met
NM_001372051.1:c.876C>G MANE Select	NP_001358980.1:p.Ile292Met
NM_033356.4:c.831C>G	NP_203520.1:p.Ile277Met
NR_111983.2:n.1386C>G
NM_001400642.1:c.1008C>G	NP_001387571.1:p.Ile336Met
NM_001400645.1:c.909C>G	NP_001387574.1:p.Ile303Met
NM_001400648.1:c.876C>G	NP_001387577.1:p.Ile292Met
NM_001400651.1:c.876C>G	NP_001387580.1:p.Ile292Met
NM_001400653.1:c.876C>G	NP_001387582.1:p.Ile292Met
NM_001400654.1:c.876C>G	NP_001387583.1:p.Ile292Met
NM_001400655.1:c.876C>G	NP_001387584.1:p.Ile292Met
NM_001400656.1:c.876C>G	NP_001387585.1:p.Ile292Met
NM_001400657.1:c.876C>G	NP_001387586.1:p.Ile292Met
NM_001400658.1:c.831C>G	NP_001387587.1:p.Ile277Met
NM_001400659.1:c.831C>G	NP_001387588.1:p.Ile277Met
NM_001400660.1:c.831C>G	NP_001387589.1:p.Ile277Met
NM_001400661.1:c.831C>G	NP_001387590.1:p.Ile277Met
NM_001400662.1:c.831C>G	NP_001387591.1:p.Ile277Met
NM_001400663.1:c.831C>G	NP_001387592.1:p.Ile277Met
NM_001400664.1:c.807C>G	NP_001387593.1:p.Ile269Met
NM_001400665.1:c.801C>G	NP_001387594.1:p.Ile267Met
NM_001400666.1:c.669C>G	NP_001387595.1:p.Ile223Met
NM_001400667.1:c.624C>G	NP_001387596.1:p.Ile208Met
NM_001400668.1:c.624C>G	NP_001387597.1:p.Ile208Met
NM_001400669.1:c.567C>G	NP_001387598.1:p.Ile189Met
NM_001400670.1:c.803-374C>G	NP_001387599.1:n.803-374C>G
NM_001400671.1:c.279C>G	NP_001387600.1:p.Ile93Met
NM_001400672.1:c.279C>G	NP_001387601.1:p.Ile93Met
NM_001400673.1:c.279C>G	NP_001387602.1:p.Ile93Met
NM_001400674.1:c.261C>G	NP_001387603.1:p.Ile87Met
NM_001400675.1:c.234C>G	NP_001387604.1:p.Ile78Met
NM_001400676.1:c.234C>G	NP_001387605.1:p.Ile78Met
NM_001400677.1:c.234C>G	NP_001387606.1:p.Ile78Met
NM_001400678.1:c.234C>G	NP_001387607.1:p.Ile78Met
NM_001400680.1:c.261C>G	NP_001387609.1:p.Ile87Met
NM_001400750.1:c.279C>G	NP_001387679.1:p.Ile93Met
NM_001400751.1:c.234C>G	NP_001387680.1:p.Ile78Met
NR_174564.1:n.965C>G
NR_174565.1:n.1095C>G
NR_174581.1:n.1121C>G
NR_174583.1:n.1227C>G
NR_174584.1:n.1140C>G
NR_174585.1:n.1158C>G
NR_174586.1:n.1132C>G
NR_174588.1:n.1295C>G
NR_174589.1:n.1090C>G
NR_174590.1:n.1182C>G
NR_174591.1:n.1113C>G
NR_174592.1:n.1458C>G
NR_174593.1:n.1256C>G
NR_174594.1:n.1299C>G
NR_174595.1:n.1214C>G
NR_174596.1:n.1051C>G
NR_174598.1:n.1409C>G
NR_174599.1:n.793C>G
NR_174600.1:n.1321C>G
NR_174601.1:n.1246C>G
NR_174602.1:n.1116C>G