Canonical Allele Identifier: CA378842592
Gene: CYP2E1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.135352391A>T (hg19) chr10:g.133538887A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133538887A>T , CM000672.2:g.133538887A>T GRCh38
NC_000010.10:g.135352391A>T , CM000672.1:g.135352391A>T GRCh37
NC_000010.9:g.135202381A>T NCBI36
NG_008383.1:g.16525A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252945.8:c.1405A>T MANE Select ENSP00000252945.3:p.Ile469Phe
ENST00000252945.7:c.1405A>T ENSP00000252945.3:p.Ile469Phe
ENST00000368520.1:n.1358+995A>T
ENST00000463117.6:c.1405A>T ENSP00000440689.1:p.Ile469Phe
ENST00000469258.1:n.501A>T
NM_000773.3:c.1405A>T NP_000764.1:p.Ile469Phe
NM_000773.4:c.1405A>T MANE Select NP_000764.1:p.Ile469Phe
Search 100 bp 5'
Search 100 bp 3'