Canonical Allele Identifier: CA2053381

Gene: CASP8

Linked Data

• ClinVar Variation Id: 402493
• ClinVar RCV Id: RCV000455928 ; RCV001643144
• dbSNP Id: rs3769824
• ExAC: 2:202122956 T / C
• gnomAD v2: 2-202122956-T-C
• gnomAD v3: 2-201258233-T-C
• gnomAD v4: 2-201258233-T-C
• MyVariant Identifiers: chr2:g.202122956T>C (hg19) ; chr2:g.201258233T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201258233T>C , CM000664.2:g.201258233T>C	GRCh38
NC_000002.11:g.202122956T>C , CM000664.1:g.202122956T>C	GRCh37
NC_000002.10:g.201831201T>C	NCBI36
NG_007497.1:g.29776T>C , LRG_34:g.29776T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413726.6:c.-27+79T>C	ENSP00000397528.2:n.-27+79T>C
ENST00000440732.6:c.1-8254T>C	ENSP00000396869.2:n.1-8254T>C
ENST00000447616.6:c.-27+201T>C	ENSP00000388306.2:n.-27+201T>C
ENST00000450491.6:c.-4-13283T>C	ENSP00000391709.2:n.-4-13283T>C
ENST00000696067.1:c.-26-8228T>C	ENSP00000512369.1:n.-26-8228T>C
ENST00000696068.1:c.-27+79T>C	ENSP00000512370.1:n.-27+79T>C
ENST00000696085.1:c.2T>C	ENSP00000512381.1:p.Met1Thr
ENST00000696087.1:c.-27+79T>C	ENSP00000512382.1:n.-27+79T>C
ENST00000264274.13:c.-26-8228T>C	ENSP00000264274.9:n.-26-8228T>C
ENST00000264275.9:c.-26-8228T>C	ENSP00000264275.5:n.-26-8228T>C
ENST00000358485.8:c.2T>C	ENSP00000351273.4:p.Met1Thr
ENST00000392258.7:c.-26-8228T>C	ENSP00000376087.3:n.-26-8228T>C
ENST00000392263.6:c.-26-8228T>C	ENSP00000376091.2:n.-26-8228T>C
ENST00000392266.7:c.-27+79T>C	ENSP00000376094.4:n.-27+79T>C
ENST00000413726.5:c.-27+79T>C	ENSP00000397528.1:n.-27+79T>C
ENST00000432109.6:c.1-8254T>C	ENSP00000412523.2:n.1-8254T>C
ENST00000437283.5:c.2T>C	ENSP00000407378.1:p.Met1Thr
ENST00000440732.5:c.1-8254T>C	ENSP00000396869.1:n.1-8254T>C
ENST00000447616.5:c.-27+201T>C	ENSP00000388306.1:n.-27+201T>C
ENST00000450491.5:c.-4-13283T>C	ENSP00000391709.1:n.-4-13283T>C
ENST00000471383.5:n.251-8228T>C
ENST00000490412.5:n.36+79T>C
NM_001080124.1:c.-26-8228T>C	NP_001073593.1:n.-26-8228T>C
NM_001080125.1:c.2T>C	NP_001073594.1:p.Met1Thr
NM_001228.4:c.-26-8228T>C , LRG_34t1:c.-26-8228T>C	NP_001219.2:n.-26-8228T>C
NM_033355.3:c.1-8254T>C , LRG_34t2:c.1-8254T>C	NP_203519.1:n.1-8254T>C
NM_033358.3:c.-26-8228T>C	NP_203522.1:n.-26-8228T>C
NR_111983.1:n.203T>C
XM_005246885.1:c.2T>C	XP_005246942.1:p.Met1Thr
XM_005246887.1:c.-26-8228T>C	XP_005246944.1:n.-26-8228T>C
XM_005246888.1:c.1-8254T>C	XP_005246945.1:n.1-8254T>C
XM_005246889.1:c.-27+79T>C	XP_005246946.1:n.-27+79T>C
XM_005246891.3:c.-150T>C	XP_005246948.1:n.-150T>C
XM_005246892.1:c.-27+79T>C	XP_005246949.1:n.-27+79T>C
XM_005246893.2:c.2T>C	XP_005246950.1:p.Met1Thr
XM_005246894.2:c.-558-8228T>C	XP_005246951.1:n.-558-8228T>C
XM_005246895.2:c.2T>C	XP_005246952.1:p.Met1Thr
XM_006712789.1:c.-26-8228T>C	XP_006712852.1:n.-26-8228T>C
XM_006712790.2:c.-1+79T>C	XP_006712853.1:n.-1+79T>C
XM_006712791.1:c.2T>C	XP_006712854.1:p.Met1Thr
XM_006712793.2:c.-26-8228T>C	XP_006712856.1:n.-26-8228T>C
XM_011511968.1:c.2T>C	XP_011510270.1:p.Met1Thr
XM_011511970.1:c.2T>C	XP_011510272.1:p.Met1Thr
XR_923035.1:n.23T>C
XM_005246885.2:c.2T>C	XP_005246942.1:p.Met1Thr
XM_005246887.2:c.-26-8228T>C	XP_005246944.1:n.-26-8228T>C
XM_005246888.2:c.1-8254T>C	XP_005246945.1:n.1-8254T>C
XM_005246889.2:c.-27+79T>C	XP_005246946.1:n.-27+79T>C
XM_005246891.5:c.-150T>C	XP_005246948.1:n.-150T>C
XM_005246892.2:c.-27+79T>C	XP_005246949.1:n.-27+79T>C
XM_005246893.3:c.2T>C	XP_005246950.1:p.Met1Thr
XM_005246894.4:c.-558-8228T>C	XP_005246951.1:n.-558-8228T>C
XM_005246895.3:c.2T>C	XP_005246952.1:p.Met1Thr
XM_006712789.2:c.-26-8228T>C	XP_006712852.1:n.-26-8228T>C
XM_006712790.4:c.-1+79T>C	XP_006712853.1:n.-1+79T>C
XM_006712793.3:c.-26-8228T>C	XP_006712856.1:n.-26-8228T>C
XR_001738971.1:n.251-8228T>C
NM_001080124.2:c.-26-8228T>C	NP_001073593.1:n.-26-8228T>C
NM_001080125.2:c.2T>C	NP_001073594.1:p.Met1Thr
NM_033358.4:c.-26-8228T>C	NP_203522.1:n.-26-8228T>C
NR_111983.2:n.199T>C
NM_001400642.1:c.2T>C	NP_001387571.1:p.Met1Thr
NM_001400645.1:c.-27+79T>C	NP_001387574.1:n.-27+79T>C
NM_001400648.1:c.-26-8228T>C	NP_001387577.1:n.-26-8228T>C
NM_001400651.1:c.-26-8228T>C	NP_001387580.1:n.-26-8228T>C
NM_001400654.1:c.-1+79T>C	NP_001387583.1:n.-1+79T>C
NM_001400655.1:c.-150T>C	NP_001387584.1:n.-150T>C
NM_001400656.1:c.-27+79T>C	NP_001387585.1:n.-27+79T>C
NM_001400657.1:c.1-8254T>C	NP_001387586.1:n.1-8254T>C
NM_001400658.1:c.-27+79T>C	NP_001387587.1:n.-27+79T>C
NM_001400660.1:c.1-8254T>C	NP_001387589.1:n.1-8254T>C
NM_001400661.1:c.1-8254T>C	NP_001387590.1:n.1-8254T>C
NM_001400662.1:c.-150T>C	NP_001387591.1:n.-150T>C
NM_001400663.1:c.-26-8228T>C	NP_001387592.1:n.-26-8228T>C
NM_001400665.1:c.2T>C	NP_001387594.1:p.Met1Thr
NM_001400668.1:c.-27+79T>C	NP_001387597.1:n.-27+79T>C
NM_001400669.1:c.-4-13283T>C	NP_001387598.1:n.-4-13283T>C
NM_001400677.1:c.-532-8254T>C	NP_001387606.1:n.-532-8254T>C
NM_001400678.1:c.-559+79T>C	NP_001387607.1:n.-559+79T>C
NM_001400679.1:c.-26-8228T>C	NP_001387608.1:n.-26-8228T>C
NM_001400680.1:c.-637-8228T>C	NP_001387609.1:n.-637-8228T>C
NM_001400750.1:c.-682T>C	NP_001387679.1:n.-682T>C
NM_001400751.1:c.-682T>C	NP_001387680.1:n.-682T>C
NR_174565.1:n.190-8254T>C
NR_174581.1:n.190-8228T>C
NR_174583.1:n.190-8228T>C
NR_174584.1:n.199T>C
NR_174585.1:n.120+79T>C
NR_174586.1:n.120+79T>C
NR_174588.1:n.258-8228T>C
NR_174590.1:n.190-8228T>C
NR_174591.1:n.120+79T>C
NR_174592.1:n.199T>C
NR_174593.1:n.120+79T>C
NR_174594.1:n.190-8254T>C
NR_174598.1:n.258-8228T>C
NR_174600.1:n.199T>C
NR_174601.1:n.120+79T>C