Canonical Allele Identifier: CA350299057

Gene: CASP8

Linked Data

• MyVariant Identifiers: chr2:g.202149611T>A (hg19) ; chr2:g.201284888T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201284888T>A , CM000664.2:g.201284888T>A	GRCh38
NC_000002.11:g.202149611T>A , CM000664.1:g.202149611T>A	GRCh37
NC_000002.10:g.201857856T>A	NCBI36
NG_007497.1:g.56431T>A , LRG_34:g.56431T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413726.6:c.875T>A	ENSP00000397528.2:p.Ile292Asn
ENST00000440732.6:c.875T>A	ENSP00000396869.2:p.Ile292Asn
ENST00000444430.3:c.623T>A	ENSP00000394434.3:p.Ile208Asn
ENST00000450491.6:c.521T>A	ENSP00000391709.2:p.Ile174Asn
ENST00000696067.1:c.875T>A	ENSP00000512369.1:p.Ile292Asn
ENST00000696068.1:c.*102T>A	ENSP00000512370.1:n.*102T>A
ENST00000696069.1:c.830T>A	ENSP00000512371.1:p.Ile277Asn
ENST00000696085.1:c.1007T>A	ENSP00000512381.1:p.Ile336Asn
ENST00000696086.1:n.149T>A
ENST00000696087.1:c.830T>A	ENSP00000512382.1:p.Ile277Asn
ENST00000673742.1:c.875T>A MANE Select	ENSP00000501268.1:p.Ile292Asn
ENST00000264274.13:c.623T>A	ENSP00000264274.9:p.Ile208Asn
ENST00000264275.9:c.926T>A	ENSP00000264275.5:p.Ile309Asn
ENST00000323492.11:c.830T>A	ENSP00000325722.7:p.Ile277Asn
ENST00000339403.6:n.1096T>A
ENST00000358485.8:c.1052T>A	ENSP00000351273.4:p.Ile351Asn
ENST00000392263.6:c.830T>A	ENSP00000376091.2:p.Ile277Asn
ENST00000432109.6:c.875T>A	ENSP00000412523.2:p.Ile292Asn
ENST00000444430.2:c.212T>A	ENSP00000394434.2:p.Ile71Asn
NM_001080124.1:c.830T>A	NP_001073593.1:p.Ile277Asn
NM_001080125.1:c.1052T>A	NP_001073594.1:p.Ile351Asn
NM_001228.4:c.926T>A , LRG_34t1:c.926T>A	NP_001219.2:p.Ile309Asn
NM_033355.3:c.875T>A , LRG_34t2:c.875T>A	NP_203519.1:p.Ile292Asn
NM_033356.3:c.830T>A	NP_203520.1:p.Ile277Asn
NR_111983.1:n.1389T>A
XM_005246885.1:c.1007T>A	XP_005246942.1:p.Ile336Asn
XM_005246886.1:c.875T>A	XP_005246943.1:p.Ile292Asn
XM_005246887.1:c.875T>A	XP_005246944.1:p.Ile292Asn
XM_005246888.1:c.875T>A	XP_005246945.1:p.Ile292Asn
XM_005246889.1:c.875T>A	XP_005246946.1:p.Ile292Asn
XM_005246890.2:c.875T>A	XP_005246947.1:p.Ile292Asn
XM_005246891.3:c.875T>A	XP_005246948.1:p.Ile292Asn
XM_005246892.1:c.830T>A	XP_005246949.1:p.Ile277Asn
XM_005246893.2:c.*102T>A	XP_005246950.1:n.*102T>A
XM_005246894.2:c.278T>A	XP_005246951.1:p.Ile93Asn
XM_005246895.2:c.*102T>A	XP_005246952.1:n.*102T>A
XM_006712789.1:c.875T>A	XP_006712852.1:p.Ile292Asn
XM_006712790.2:c.875T>A	XP_006712853.1:p.Ile292Asn
XM_006712791.1:c.800T>A	XP_006712854.1:p.Ile267Asn
XM_006712793.2:c.*102T>A	XP_006712856.1:n.*102T>A
XM_011511969.1:c.440T>A	XP_011510271.1:p.Ile147Asn
XR_923035.1:n.1144T>A
XM_005246885.2:c.1007T>A	XP_005246942.1:p.Ile336Asn
XM_005246886.2:c.875T>A	XP_005246943.1:p.Ile292Asn
XM_005246887.2:c.875T>A	XP_005246944.1:p.Ile292Asn
XM_005246888.2:c.875T>A	XP_005246945.1:p.Ile292Asn
XM_005246889.2:c.875T>A	XP_005246946.1:p.Ile292Asn
XM_005246890.4:c.875T>A	XP_005246947.1:p.Ile292Asn
XM_005246891.5:c.875T>A	XP_005246948.1:p.Ile292Asn
XM_005246892.2:c.830T>A	XP_005246949.1:p.Ile277Asn
XM_005246893.3:c.*102T>A	XP_005246950.1:n.*102T>A
XM_005246894.4:c.278T>A	XP_005246951.1:p.Ile93Asn
XM_005246895.3:c.*102T>A	XP_005246952.1:n.*102T>A
XM_006712789.2:c.875T>A	XP_006712852.1:p.Ile292Asn
XM_006712790.4:c.875T>A	XP_006712853.1:p.Ile292Asn
XM_006712793.3:c.*102T>A	XP_006712856.1:n.*102T>A
XM_011511969.2:c.440T>A	XP_011510271.1:p.Ile147Asn
XR_001738971.1:n.1222T>A
NM_001080124.2:c.830T>A	NP_001073593.1:p.Ile277Asn
NM_001080125.2:c.1052T>A	NP_001073594.1:p.Ile351Asn
NM_001372051.1:c.875T>A MANE Select	NP_001358980.1:p.Ile292Asn
NM_033356.4:c.830T>A	NP_203520.1:p.Ile277Asn
NR_111983.2:n.1385T>A
NM_001400642.1:c.1007T>A	NP_001387571.1:p.Ile336Asn
NM_001400645.1:c.908T>A	NP_001387574.1:p.Ile303Asn
NM_001400648.1:c.875T>A	NP_001387577.1:p.Ile292Asn
NM_001400651.1:c.875T>A	NP_001387580.1:p.Ile292Asn
NM_001400653.1:c.875T>A	NP_001387582.1:p.Ile292Asn
NM_001400654.1:c.875T>A	NP_001387583.1:p.Ile292Asn
NM_001400655.1:c.875T>A	NP_001387584.1:p.Ile292Asn
NM_001400656.1:c.875T>A	NP_001387585.1:p.Ile292Asn
NM_001400657.1:c.875T>A	NP_001387586.1:p.Ile292Asn
NM_001400658.1:c.830T>A	NP_001387587.1:p.Ile277Asn
NM_001400659.1:c.830T>A	NP_001387588.1:p.Ile277Asn
NM_001400660.1:c.830T>A	NP_001387589.1:p.Ile277Asn
NM_001400661.1:c.830T>A	NP_001387590.1:p.Ile277Asn
NM_001400662.1:c.830T>A	NP_001387591.1:p.Ile277Asn
NM_001400663.1:c.830T>A	NP_001387592.1:p.Ile277Asn
NM_001400664.1:c.806T>A	NP_001387593.1:p.Ile269Asn
NM_001400665.1:c.800T>A	NP_001387594.1:p.Ile267Asn
NM_001400666.1:c.668T>A	NP_001387595.1:p.Ile223Asn
NM_001400667.1:c.623T>A	NP_001387596.1:p.Ile208Asn
NM_001400668.1:c.623T>A	NP_001387597.1:p.Ile208Asn
NM_001400669.1:c.566T>A	NP_001387598.1:p.Ile189Asn
NM_001400670.1:c.803-375T>A	NP_001387599.1:n.803-375T>A
NM_001400671.1:c.278T>A	NP_001387600.1:p.Ile93Asn
NM_001400672.1:c.278T>A	NP_001387601.1:p.Ile93Asn
NM_001400673.1:c.278T>A	NP_001387602.1:p.Ile93Asn
NM_001400674.1:c.260T>A	NP_001387603.1:p.Ile87Asn
NM_001400675.1:c.233T>A	NP_001387604.1:p.Ile78Asn
NM_001400676.1:c.233T>A	NP_001387605.1:p.Ile78Asn
NM_001400677.1:c.233T>A	NP_001387606.1:p.Ile78Asn
NM_001400678.1:c.233T>A	NP_001387607.1:p.Ile78Asn
NM_001400680.1:c.260T>A	NP_001387609.1:p.Ile87Asn
NM_001400750.1:c.278T>A	NP_001387679.1:p.Ile93Asn
NM_001400751.1:c.233T>A	NP_001387680.1:p.Ile78Asn
NR_174564.1:n.964T>A
NR_174565.1:n.1094T>A
NR_174581.1:n.1120T>A
NR_174583.1:n.1226T>A
NR_174584.1:n.1139T>A
NR_174585.1:n.1157T>A
NR_174586.1:n.1131T>A
NR_174588.1:n.1294T>A
NR_174589.1:n.1089T>A
NR_174590.1:n.1181T>A
NR_174591.1:n.1112T>A
NR_174592.1:n.1457T>A
NR_174593.1:n.1255T>A
NR_174594.1:n.1298T>A
NR_174595.1:n.1213T>A
NR_174596.1:n.1050T>A
NR_174598.1:n.1408T>A
NR_174599.1:n.792T>A
NR_174600.1:n.1320T>A
NR_174601.1:n.1245T>A
NR_174602.1:n.1115T>A