Canonical Allele Identifier: CA378842515
Gene: CYP2E1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133538870T>C , CM000672.2:g.133538870T>C GRCh38
NC_000010.10:g.135352374T>C , CM000672.1:g.135352374T>C GRCh37
NC_000010.9:g.135202364T>C NCBI36
NG_008383.1:g.16508T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252945.8:c.1388T>C MANE Select ENSP00000252945.3:p.Leu463Pro
ENST00000252945.7:c.1388T>C ENSP00000252945.3:p.Leu463Pro
ENST00000368520.1:n.1358+978T>C
ENST00000463117.6:c.1388T>C ENSP00000440689.1:p.Leu463Pro
ENST00000469258.1:n.484T>C
NM_000773.3:c.1388T>C NP_000764.1:p.Leu463Pro
NM_000773.4:c.1388T>C MANE Select NP_000764.1:p.Leu463Pro