Canonical Allele Identifier: CA378842136
Gene: CYP2E1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133538810C>G , CM000672.2:g.133538810C>G GRCh38
NC_000010.10:g.135352314C>G , CM000672.1:g.135352314C>G GRCh37
NC_000010.9:g.135202304C>G NCBI36
NG_008383.1:g.16448C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252945.8:c.1328C>G MANE Select ENSP00000252945.3:p.Ala443Gly
ENST00000252945.7:c.1328C>G ENSP00000252945.3:p.Ala443Gly
ENST00000368520.1:n.1358+918C>G
ENST00000418356.1:c.917C>G ENSP00000397299.1:p.Ala306Gly
ENST00000421586.5:c.1067C>G ENSP00000412754.1:p.Ala356Gly
ENST00000463117.6:c.1328C>G ENSP00000440689.1:p.Ala443Gly
ENST00000469258.1:n.424C>G
ENST00000541080.5:c.744C>G
NM_000773.3:c.1328C>G NP_000764.1:p.Ala443Gly
NM_000773.4:c.1328C>G MANE Select NP_000764.1:p.Ala443Gly