Canonical Allele Identifier: CA2790086009
Gene: CYP2E1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133538850_133538852dup , CM000672.2:g.133538850_133538852dup GRCh38
NC_000010.10:g.135352354_135352356dup , CM000672.1:g.135352354_135352356dup GRCh37
NC_000010.9:g.135202344_135202346dup NCBI36
NG_008383.1:g.16488_16490dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000252945.8:c.1368_1370dup MANE Select ENSP00000252945.3:p.Gln456_His457insGln
ENST00000252945.7:c.1368_1370dup ENSP00000252945.3:p.Gln456_His457insGln
ENST00000368520.1:n.1358+958_1358+960dup
ENST00000463117.6:c.1368_1370dup ENSP00000440689.1:p.Gln456_His457insGln
ENST00000469258.1:n.464_466dup
NM_000773.3:c.1368_1370dup NP_000764.1:p.Gln456_His457insGln
NM_000773.4:c.1368_1370dup MANE Select NP_000764.1:p.Gln456_His457insGln