Canonical Allele Identifier: CA378842112
Gene: CYP2E1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133538806C>G , CM000672.2:g.133538806C>G GRCh38
NC_000010.10:g.135352310C>G , CM000672.1:g.135352310C>G GRCh37
NC_000010.9:g.135202300C>G NCBI36
NG_008383.1:g.16444C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252945.8:c.1324C>G MANE Select ENSP00000252945.3:p.Leu442Val
ENST00000252945.7:c.1324C>G ENSP00000252945.3:p.Leu442Val
ENST00000368520.1:n.1358+914C>G
ENST00000418356.1:c.913C>G ENSP00000397299.1:p.Leu305Val
ENST00000421586.5:c.1063C>G ENSP00000412754.1:p.Leu355Val
ENST00000463117.6:c.1324C>G ENSP00000440689.1:p.Leu442Val
ENST00000469258.1:n.420C>G
ENST00000541080.5:c.740C>G
NM_000773.3:c.1324C>G NP_000764.1:p.Leu442Val
NM_000773.4:c.1324C>G MANE Select NP_000764.1:p.Leu442Val