Canonical Allele Identifier: CA763323524

Gene: CASP8

Linked Data

• dbSNP Id: rs1397655950
• gnomAD v3: 2-201241264-C-G
• gnomAD v4: 2-201241264-C-G
• MyVariant Identifiers: chr2:g.202105987C>G (hg19) ; chr2:g.201241264C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201241264C>G , CM000664.2:g.201241264C>G	GRCh38
NC_000002.11:g.202105987C>G , CM000664.1:g.202105987C>G	GRCh37
NC_000002.10:g.201814232C>G	NCBI36
NG_007497.1:g.12807C>G , LRG_34:g.12807C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000440732.6:c.-1+7152C>G	ENSP00000396869.2:n.-1+7152C>G
ENST00000450491.6:c.-5+7152C>G	ENSP00000391709.2:n.-5+7152C>G
ENST00000490682.6:n.1252C>G
ENST00000696067.1:c.-27+7152C>G	ENSP00000512369.1:n.-27+7152C>G
ENST00000264274.13:c.-27+7152C>G	ENSP00000264274.9:n.-27+7152C>G
ENST00000264275.9:c.-27+7152C>G	ENSP00000264275.5:n.-27+7152C>G
ENST00000392258.7:c.-27+7152C>G	ENSP00000376087.3:n.-27+7152C>G
ENST00000392263.6:c.-27+7152C>G	ENSP00000376091.2:n.-27+7152C>G
ENST00000432109.6:c.-1+7152C>G	ENSP00000412523.2:n.-1+7152C>G
ENST00000440732.5:c.-1+7152C>G	ENSP00000396869.1:n.-1+7152C>G
ENST00000450491.5:c.-5+7152C>G	ENSP00000391709.1:n.-5+7152C>G
ENST00000471383.5:n.250+7152C>G
ENST00000490682.5:n.1250C>G
NM_001080124.1:c.-27+7152C>G	NP_001073593.1:n.-27+7152C>G
NM_001228.4:c.-27+7152C>G , LRG_34t1:c.-27+7152C>G	NP_001219.2:n.-27+7152C>G
NM_033355.3:c.-1+7152C>G , LRG_34t2:c.-1+7152C>G	NP_203519.1:n.-1+7152C>G
NM_033358.3:c.-27+7152C>G	NP_203522.1:n.-27+7152C>G
XM_005246887.1:c.-27+7152C>G	XP_005246944.1:n.-27+7152C>G
XM_005246888.1:c.-1+7152C>G	XP_005246945.1:n.-1+7152C>G
XM_005246894.2:c.-559+7152C>G	XP_005246951.1:n.-559+7152C>G
XM_006712789.1:c.-27+7152C>G	XP_006712852.1:n.-27+7152C>G
XM_006712793.2:c.-27+7152C>G	XP_006712856.1:n.-27+7152C>G
XM_005246887.2:c.-27+7152C>G	XP_005246944.1:n.-27+7152C>G
XM_005246888.2:c.-1+7152C>G	XP_005246945.1:n.-1+7152C>G
XM_005246894.4:c.-559+7152C>G	XP_005246951.1:n.-559+7152C>G
XM_006712789.2:c.-27+7152C>G	XP_006712852.1:n.-27+7152C>G
XM_006712793.3:c.-27+7152C>G	XP_006712856.1:n.-27+7152C>G
XR_001738971.1:n.250+7152C>G
NM_001080124.2:c.-27+7152C>G	NP_001073593.1:n.-27+7152C>G
NM_033358.4:c.-27+7152C>G	NP_203522.1:n.-27+7152C>G
NM_001400648.1:c.-27+7152C>G	NP_001387577.1:n.-27+7152C>G
NM_001400651.1:c.-27+7152C>G	NP_001387580.1:n.-27+7152C>G
NM_001400657.1:c.-1+7152C>G	NP_001387586.1:n.-1+7152C>G
NM_001400660.1:c.-1+7152C>G	NP_001387589.1:n.-1+7152C>G
NM_001400661.1:c.-1+7152C>G	NP_001387590.1:n.-1+7152C>G
NM_001400663.1:c.-27+7152C>G	NP_001387592.1:n.-27+7152C>G
NM_001400669.1:c.-5+7152C>G	NP_001387598.1:n.-5+7152C>G
NM_001400677.1:c.-533+7152C>G	NP_001387606.1:n.-533+7152C>G
NM_001400679.1:c.-27+7152C>G	NP_001387608.1:n.-27+7152C>G
NM_001400680.1:c.-638+7152C>G	NP_001387609.1:n.-638+7152C>G
NR_174565.1:n.189+7152C>G
NR_174581.1:n.189+7152C>G
NR_174582.1:n.1252C>G
NR_174583.1:n.189+7152C>G
NR_174588.1:n.257+7152C>G
NR_174590.1:n.189+7152C>G
NR_174594.1:n.189+7152C>G
NR_174598.1:n.257+7152C>G