Canonical Allele Identifier: CA11135202
Gene: CASP8 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.201287768T>A
GRCh37 chr2:g.202152491T>A
gnomAD v2:
2:202152491 T / A
gnomAD v3:
2:201287768 T / A
gnomAD v4:
chr2-201287768-T-A
Joint Max Group AF 0.53476591 (NFE)
Genomes Max Group AF 0.53472909 (NFE)
Exomes Max Group AF 0.391268 (NFE)
dbSNP:
1035140
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.201287768T>A , CM000664.2:g.201287768T>A GRCh38
NC_000002.11:g.202152491T>A , CM000664.1:g.202152491T>A GRCh37
NC_000002.10:g.201860736T>A NCBI36
NG_007497.1:g.59311T>A , LRG_34:g.59311T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000696069.1:c.1259+2451T>A ENSP00000512371.1:n.1259+2451T>A
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