Canonical Allele Identifier: CA216859201
Gene: CYP2E1 HGNC NCBI

Linked Data

dbSNP Id: rs1040185359
gnomAD v2: 10-135352526-G-A
gnomAD v3: 10-133539022-G-A
gnomAD v4: 10-133539022-G-A
MyVariant Identifiers: chr10:g.135352526G>A (hg19) chr10:g.133539022G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133539022G>A , CM000672.2:g.133539022G>A GRCh38
NC_000010.10:g.135352526G>A , CM000672.1:g.135352526G>A GRCh37
NC_000010.9:g.135202516G>A NCBI36
NG_008383.1:g.16660G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252945.8:c.*58G>A MANE Select ENSP00000252945.3:n.*58G>A
ENST00000252945.7:c.*58G>A ENSP00000252945.3:n.*58G>A
ENST00000368520.1:n.1358+1130G>A
ENST00000463117.6:c.*58G>A ENSP00000440689.1:n.*58G>A
ENST00000469258.1:n.636G>A
NM_000773.3:c.*58G>A NP_000764.1:n.*58G>A
NM_000773.4:c.*58G>A MANE Select NP_000764.1:n.*58G>A
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