Canonical Allele Identifier: CA2611616510
Gene: CYP2E1 HGNC NCBI

Linked Data

gnomAD v4: 10-133538725-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133538725G>C , CM000672.2:g.133538725G>C GRCh38
NC_000010.10:g.135352229G>C , CM000672.1:g.135352229G>C GRCh37
NC_000010.9:g.135202219G>C NCBI36
NG_008383.1:g.16363G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252945.8:c.1298-55G>C MANE Select ENSP00000252945.3:n.1298-55G>C
ENST00000252945.7:c.1298-55G>C ENSP00000252945.3:n.1298-55G>C
ENST00000368520.1:n.1358+833G>C
ENST00000418356.1:c.887-55G>C ENSP00000397299.1:n.887-55G>C
ENST00000421586.5:c.1037-55G>C ENSP00000412754.1:n.1037-55G>C
ENST00000463117.6:c.1298-55G>C ENSP00000440689.1:n.1298-55G>C
ENST00000469258.1:n.394-55G>C
ENST00000541080.5:c.714-55G>C
NM_000773.3:c.1298-55G>C NP_000764.1:n.1298-55G>C
NM_000773.4:c.1298-55G>C MANE Select NP_000764.1:n.1298-55G>C
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