Canonical Allele Identifier: CA5767877
Gene: CYP2E1 HGNC NCBI

Linked Data

dbSNP Id: rs748372752
ExAC: 10:135352383 C / T
gnomAD v2: 10-135352383-C-T
gnomAD v4: 10-133538879-C-T
MyVariant Identifiers: chr10:g.135352383C>T (hg19) chr10:g.133538879C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133538879C>T , CM000672.2:g.133538879C>T GRCh38
NC_000010.10:g.135352383C>T , CM000672.1:g.135352383C>T GRCh37
NC_000010.9:g.135202373C>T NCBI36
NG_008383.1:g.16517C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252945.8:c.1397C>T MANE Select ENSP00000252945.3:p.Pro466Leu
ENST00000252945.7:c.1397C>T ENSP00000252945.3:p.Pro466Leu
ENST00000368520.1:n.1358+987C>T
ENST00000463117.6:c.1397C>T ENSP00000440689.1:p.Pro466Leu
ENST00000469258.1:n.493C>T
NM_000773.3:c.1397C>T NP_000764.1:p.Pro466Leu
NM_000773.4:c.1397C>T MANE Select NP_000764.1:p.Pro466Leu
Search 100 bp 5'
Search 100 bp 3'