Canonical Allele Identifier: CA472263354
Gene: CYP2E1 HGNC NCBI

Linked Data

dbSNP Id: rs1851442248
MyVariant Identifiers: chr10:g.135352399C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133538895C>T , CM000672.2:g.133538895C>T GRCh38
NC_000010.10:g.135352399C>T , CM000672.1:g.135352399C>T GRCh37
NC_000010.9:g.135202389C>T NCBI36
NG_008383.1:g.16533C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252945.8:c.1413C>T MANE Select ENSP00000252945.3:p.Leu471=
ENST00000252945.7:c.1413C>T ENSP00000252945.3:p.Leu471=
ENST00000368520.1:n.1358+1003C>T
ENST00000463117.6:c.1413C>T ENSP00000440689.1:p.Leu471=
ENST00000469258.1:n.509C>T
NM_000773.3:c.1413C>T NP_000764.1:p.Leu471=
NM_000773.4:c.1413C>T MANE Select NP_000764.1:p.Leu471=