Canonical Allele Identifier: CA216859218
Gene: CYP2E1 HGNC NCBI

Linked Data

dbSNP Id: rs12164704
gnomAD v2: 10-135352600-A-C
gnomAD v3: 10-133539096-A-C
gnomAD v4: 10-133539096-A-C
MyVariant Identifiers: chr10:g.135352600A>C (hg19) chr10:g.133539096A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133539096A>C , CM000672.2:g.133539096A>C GRCh38
NC_000010.10:g.135352600A>C , CM000672.1:g.135352600A>C GRCh37
NC_000010.9:g.135202590A>C NCBI36
NG_008383.1:g.16734A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252945.8:c.*132A>C MANE Select ENSP00000252945.3:n.*132A>C
ENST00000252945.7:c.*132A>C ENSP00000252945.3:n.*132A>C
ENST00000368520.1:n.1358+1204A>C
ENST00000463117.6:c.*132A>C ENSP00000440689.1:n.*132A>C
ENST00000469258.1:n.710A>C
NM_000773.3:c.*132A>C NP_000764.1:n.*132A>C
NM_000773.4:c.*132A>C MANE Select NP_000764.1:n.*132A>C
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