Canonical Allele Identifier: CA378842828
Gene: CYP2E1 HGNC NCBI

Linked Data

dbSNP Id: rs1184993512
gnomAD v3: 10-133538945-G-A
gnomAD v4: 10-133538945-G-A
MyVariant Identifiers: chr10:g.135352449G>A (hg19) chr10:g.133538945G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133538945G>A , CM000672.2:g.133538945G>A GRCh38
NC_000010.10:g.135352449G>A , CM000672.1:g.135352449G>A GRCh37
NC_000010.9:g.135202439G>A NCBI36
NG_008383.1:g.16583G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252945.8:c.1463G>A MANE Select ENSP00000252945.3:p.Cys488Tyr
ENST00000252945.7:c.1463G>A ENSP00000252945.3:p.Cys488Tyr
ENST00000368520.1:n.1358+1053G>A
ENST00000463117.6:c.1463G>A ENSP00000440689.1:p.Cys488Tyr
ENST00000469258.1:n.559G>A
NM_000773.3:c.1463G>A NP_000764.1:p.Cys488Tyr
NM_000773.4:c.1463G>A MANE Select NP_000764.1:p.Cys488Tyr
Search 100 bp 5'
Search 100 bp 3'