Canonical Allele Identifier: CA378842755
Gene: CYP2E1 HGNC NCBI

Linked Data

COSMIC: COSM6129162
MyVariant Identifiers: chr10:g.135352425G>T (hg19) chr10:g.133538921G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133538921G>T , CM000672.2:g.133538921G>T GRCh38
NC_000010.10:g.135352425G>T , CM000672.1:g.135352425G>T GRCh37
NC_000010.9:g.135202415G>T NCBI36
NG_008383.1:g.16559G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252945.8:c.1439G>T MANE Select ENSP00000252945.3:p.Cys480Phe
ENST00000252945.7:c.1439G>T ENSP00000252945.3:p.Cys480Phe
ENST00000368520.1:n.1358+1029G>T
ENST00000463117.6:c.1439G>T ENSP00000440689.1:p.Cys480Phe
ENST00000469258.1:n.535G>T
NM_000773.3:c.1439G>T NP_000764.1:p.Cys480Phe
NM_000773.4:c.1439G>T MANE Select NP_000764.1:p.Cys480Phe
Search 100 bp 5'
Search 100 bp 3'