Canonical Allele Identifier: CA597015962
Gene: CYP2E1 HGNC NCBI

Linked Data

dbSNP Id: rs762720959
gnomAD v2: 10-135352469-G-A
gnomAD v4: 10-133538965-G-A
MyVariant Identifiers: chr10:g.135352469G>A (hg19) chr10:g.133538965G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133538965G>A , CM000672.2:g.133538965G>A GRCh38
NC_000010.10:g.135352469G>A , CM000672.1:g.135352469G>A GRCh37
NC_000010.9:g.135202459G>A NCBI36
NG_008383.1:g.16603G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252945.8:c.*1G>A MANE Select ENSP00000252945.3:n.*1G>A
ENST00000252945.7:c.*1G>A ENSP00000252945.3:n.*1G>A
ENST00000368520.1:n.1358+1073G>A
ENST00000463117.6:c.*1G>A ENSP00000440689.1:n.*1G>A
ENST00000469258.1:n.579G>A
NM_000773.3:c.*1G>A NP_000764.1:n.*1G>A
NM_000773.4:c.*1G>A MANE Select NP_000764.1:n.*1G>A
Search 100 bp 5'
Search 100 bp 3'