Canonical Allele Identifier: CA378842837
Gene: CYP2E1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.135352451G>C (hg19) chr10:g.133538947G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133538947G>C , CM000672.2:g.133538947G>C GRCh38
NC_000010.10:g.135352451G>C , CM000672.1:g.135352451G>C GRCh37
NC_000010.9:g.135202441G>C NCBI36
NG_008383.1:g.16585G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252945.8:c.1465G>C MANE Select ENSP00000252945.3:p.Val489Leu
ENST00000252945.7:c.1465G>C ENSP00000252945.3:p.Val489Leu
ENST00000368520.1:n.1358+1055G>C
ENST00000463117.6:c.1465G>C ENSP00000440689.1:p.Val489Leu
ENST00000469258.1:n.561G>C
NM_000773.3:c.1465G>C NP_000764.1:p.Val489Leu
NM_000773.4:c.1465G>C MANE Select NP_000764.1:p.Val489Leu
Search 100 bp 5'
Search 100 bp 3'