Canonical Allele Identifier: CA2053714

Gene: CASP8

Linked Data

• dbSNP Id: rs779189628
• ExAC: 2:202149608 A / G
• gnomAD v2: 2-202149608-A-G
• MyVariant Identifiers: chr2:g.202149608A>G (hg19) ; chr2:g.201284885A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201284885A>G , CM000664.2:g.201284885A>G	GRCh38
NC_000002.11:g.202149608A>G , CM000664.1:g.202149608A>G	GRCh37
NC_000002.10:g.201857853A>G	NCBI36
NG_007497.1:g.56428A>G , LRG_34:g.56428A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413726.6:c.872A>G	ENSP00000397528.2:p.Gln291Arg
ENST00000440732.6:c.872A>G	ENSP00000396869.2:p.Gln291Arg
ENST00000444430.3:c.620A>G	ENSP00000394434.3:p.Gln207Arg
ENST00000450491.6:c.518A>G	ENSP00000391709.2:p.Gln173Arg
ENST00000696067.1:c.872A>G	ENSP00000512369.1:p.Gln291Arg
ENST00000696068.1:c.*99A>G	ENSP00000512370.1:n.*99A>G
ENST00000696069.1:c.827A>G	ENSP00000512371.1:p.Gln276Arg
ENST00000696085.1:c.1004A>G	ENSP00000512381.1:p.Gln335Arg
ENST00000696086.1:n.146A>G
ENST00000696087.1:c.827A>G	ENSP00000512382.1:p.Gln276Arg
ENST00000673742.1:c.872A>G MANE Select	ENSP00000501268.1:p.Gln291Arg
ENST00000264274.13:c.620A>G	ENSP00000264274.9:p.Gln207Arg
ENST00000264275.9:c.923A>G	ENSP00000264275.5:p.Gln308Arg
ENST00000323492.11:c.827A>G	ENSP00000325722.7:p.Gln276Arg
ENST00000339403.6:n.1093A>G
ENST00000358485.8:c.1049A>G	ENSP00000351273.4:p.Gln350Arg
ENST00000392263.6:c.827A>G	ENSP00000376091.2:p.Gln276Arg
ENST00000432109.6:c.872A>G	ENSP00000412523.2:p.Gln291Arg
ENST00000444430.2:c.209A>G	ENSP00000394434.2:p.Gln70Arg
NM_001080124.1:c.827A>G	NP_001073593.1:p.Gln276Arg
NM_001080125.1:c.1049A>G	NP_001073594.1:p.Gln350Arg
NM_001228.4:c.923A>G , LRG_34t1:c.923A>G	NP_001219.2:p.Gln308Arg
NM_033355.3:c.872A>G , LRG_34t2:c.872A>G	NP_203519.1:p.Gln291Arg
NM_033356.3:c.827A>G	NP_203520.1:p.Gln276Arg
NR_111983.1:n.1386A>G
XM_005246885.1:c.1004A>G	XP_005246942.1:p.Gln335Arg
XM_005246886.1:c.872A>G	XP_005246943.1:p.Gln291Arg
XM_005246887.1:c.872A>G	XP_005246944.1:p.Gln291Arg
XM_005246888.1:c.872A>G	XP_005246945.1:p.Gln291Arg
XM_005246889.1:c.872A>G	XP_005246946.1:p.Gln291Arg
XM_005246890.2:c.872A>G	XP_005246947.1:p.Gln291Arg
XM_005246891.3:c.872A>G	XP_005246948.1:p.Gln291Arg
XM_005246892.1:c.827A>G	XP_005246949.1:p.Gln276Arg
XM_005246893.2:c.*99A>G	XP_005246950.1:n.*99A>G
XM_005246894.2:c.275A>G	XP_005246951.1:p.Gln92Arg
XM_005246895.2:c.*99A>G	XP_005246952.1:n.*99A>G
XM_006712789.1:c.872A>G	XP_006712852.1:p.Gln291Arg
XM_006712790.2:c.872A>G	XP_006712853.1:p.Gln291Arg
XM_006712791.1:c.797A>G	XP_006712854.1:p.Gln266Arg
XM_006712793.2:c.*99A>G	XP_006712856.1:n.*99A>G
XM_011511969.1:c.437A>G	XP_011510271.1:p.Gln146Arg
XR_923035.1:n.1141A>G
XM_005246885.2:c.1004A>G	XP_005246942.1:p.Gln335Arg
XM_005246886.2:c.872A>G	XP_005246943.1:p.Gln291Arg
XM_005246887.2:c.872A>G	XP_005246944.1:p.Gln291Arg
XM_005246888.2:c.872A>G	XP_005246945.1:p.Gln291Arg
XM_005246889.2:c.872A>G	XP_005246946.1:p.Gln291Arg
XM_005246890.4:c.872A>G	XP_005246947.1:p.Gln291Arg
XM_005246891.5:c.872A>G	XP_005246948.1:p.Gln291Arg
XM_005246892.2:c.827A>G	XP_005246949.1:p.Gln276Arg
XM_005246893.3:c.*99A>G	XP_005246950.1:n.*99A>G
XM_005246894.4:c.275A>G	XP_005246951.1:p.Gln92Arg
XM_005246895.3:c.*99A>G	XP_005246952.1:n.*99A>G
XM_006712789.2:c.872A>G	XP_006712852.1:p.Gln291Arg
XM_006712790.4:c.872A>G	XP_006712853.1:p.Gln291Arg
XM_006712793.3:c.*99A>G	XP_006712856.1:n.*99A>G
XM_011511969.2:c.437A>G	XP_011510271.1:p.Gln146Arg
XR_001738971.1:n.1219A>G
NM_001080124.2:c.827A>G	NP_001073593.1:p.Gln276Arg
NM_001080125.2:c.1049A>G	NP_001073594.1:p.Gln350Arg
NM_001372051.1:c.872A>G MANE Select	NP_001358980.1:p.Gln291Arg
NM_033356.4:c.827A>G	NP_203520.1:p.Gln276Arg
NR_111983.2:n.1382A>G
NM_001400642.1:c.1004A>G	NP_001387571.1:p.Gln335Arg
NM_001400645.1:c.905A>G	NP_001387574.1:p.Gln302Arg
NM_001400648.1:c.872A>G	NP_001387577.1:p.Gln291Arg
NM_001400651.1:c.872A>G	NP_001387580.1:p.Gln291Arg
NM_001400653.1:c.872A>G	NP_001387582.1:p.Gln291Arg
NM_001400654.1:c.872A>G	NP_001387583.1:p.Gln291Arg
NM_001400655.1:c.872A>G	NP_001387584.1:p.Gln291Arg
NM_001400656.1:c.872A>G	NP_001387585.1:p.Gln291Arg
NM_001400657.1:c.872A>G	NP_001387586.1:p.Gln291Arg
NM_001400658.1:c.827A>G	NP_001387587.1:p.Gln276Arg
NM_001400659.1:c.827A>G	NP_001387588.1:p.Gln276Arg
NM_001400660.1:c.827A>G	NP_001387589.1:p.Gln276Arg
NM_001400661.1:c.827A>G	NP_001387590.1:p.Gln276Arg
NM_001400662.1:c.827A>G	NP_001387591.1:p.Gln276Arg
NM_001400663.1:c.827A>G	NP_001387592.1:p.Gln276Arg
NM_001400664.1:c.803A>G	NP_001387593.1:p.Gln268Arg
NM_001400665.1:c.797A>G	NP_001387594.1:p.Gln266Arg
NM_001400666.1:c.665A>G	NP_001387595.1:p.Gln222Arg
NM_001400667.1:c.620A>G	NP_001387596.1:p.Gln207Arg
NM_001400668.1:c.620A>G	NP_001387597.1:p.Gln207Arg
NM_001400669.1:c.563A>G	NP_001387598.1:p.Gln188Arg
NM_001400670.1:c.803-378A>G	NP_001387599.1:n.803-378A>G
NM_001400671.1:c.275A>G	NP_001387600.1:p.Gln92Arg
NM_001400672.1:c.275A>G	NP_001387601.1:p.Gln92Arg
NM_001400673.1:c.275A>G	NP_001387602.1:p.Gln92Arg
NM_001400674.1:c.257A>G	NP_001387603.1:p.Gln86Arg
NM_001400675.1:c.230A>G	NP_001387604.1:p.Gln77Arg
NM_001400676.1:c.230A>G	NP_001387605.1:p.Gln77Arg
NM_001400677.1:c.230A>G	NP_001387606.1:p.Gln77Arg
NM_001400678.1:c.230A>G	NP_001387607.1:p.Gln77Arg
NM_001400680.1:c.257A>G	NP_001387609.1:p.Gln86Arg
NM_001400750.1:c.275A>G	NP_001387679.1:p.Gln92Arg
NM_001400751.1:c.230A>G	NP_001387680.1:p.Gln77Arg
NR_174564.1:n.961A>G
NR_174565.1:n.1091A>G
NR_174581.1:n.1117A>G
NR_174583.1:n.1223A>G
NR_174584.1:n.1136A>G
NR_174585.1:n.1154A>G
NR_174586.1:n.1128A>G
NR_174588.1:n.1291A>G
NR_174589.1:n.1086A>G
NR_174590.1:n.1178A>G
NR_174591.1:n.1109A>G
NR_174592.1:n.1454A>G
NR_174593.1:n.1252A>G
NR_174594.1:n.1295A>G
NR_174595.1:n.1210A>G
NR_174596.1:n.1047A>G
NR_174598.1:n.1405A>G
NR_174599.1:n.789A>G
NR_174600.1:n.1317A>G
NR_174601.1:n.1242A>G
NR_174602.1:n.1112A>G