Canonical Allele Identifier: CA378842650
Gene: CYP2E1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133538898C>G , CM000672.2:g.133538898C>G GRCh38
NC_000010.10:g.135352402C>G , CM000672.1:g.135352402C>G GRCh37
NC_000010.9:g.135202392C>G NCBI36
NG_008383.1:g.16536C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252945.8:c.1416C>G MANE Select ENSP00000252945.3:p.Ser472Arg
ENST00000252945.7:c.1416C>G ENSP00000252945.3:p.Ser472Arg
ENST00000368520.1:n.1358+1006C>G
ENST00000463117.6:c.1416C>G ENSP00000440689.1:p.Ser472Arg
ENST00000469258.1:n.512C>G
NM_000773.3:c.1416C>G NP_000764.1:p.Ser472Arg
NM_000773.4:c.1416C>G MANE Select NP_000764.1:p.Ser472Arg