Canonical Allele Identifier: CA472245033
Gene: CYP2E1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.135345689C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133532185C>A , CM000672.2:g.133532185C>A GRCh38
NC_000010.10:g.135345689C>A , CM000672.1:g.135345689C>A GRCh37
NC_000010.9:g.135195679C>A NCBI36
NG_008383.1:g.9823C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000252945.8:c.549C>A MANE Select ENSP00000252945.3:p.Ile183=
ENST00000252945.7:c.549C>A ENSP00000252945.3:p.Ile183=
ENST00000368520.1:n.610C>A
ENST00000418356.1:c.138C>A ENSP00000397299.1:p.Ile46=
ENST00000421586.5:c.288C>A ENSP00000412754.1:p.Ile96=
ENST00000463117.6:c.549C>A ENSP00000440689.1:p.Ile183=
ENST00000477500.5:n.448+451C>A
ENST00000541080.5:c.226+451C>A
NM_000773.3:c.549C>A NP_000764.1:p.Ile183=
NM_000773.4:c.549C>A MANE Select NP_000764.1:p.Ile183=