Canonical Allele Identifier: CA5767872
Gene: CYP2E1 HGNC NCBI

Linked Data

ClinVar Variation Id: 784179
ClinVar RCV Id: RCV000965828
dbSNP Id: rs28969387
ExAC: 10:135352356 A / T
gnomAD v2: 10-135352356-A-T
gnomAD v3: 10-133538852-A-T
gnomAD v4: 10-133538852-A-T
MyVariant Identifiers: chr10:g.135352356A>T (hg19) chr10:g.133538852A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133538852A>T , CM000672.2:g.133538852A>T GRCh38
NC_000010.10:g.135352356A>T , CM000672.1:g.135352356A>T GRCh37
NC_000010.9:g.135202346A>T NCBI36
NG_008383.1:g.16490A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252945.8:c.1370A>T MANE Select ENSP00000252945.3:p.His457Leu
ENST00000252945.7:c.1370A>T ENSP00000252945.3:p.His457Leu
ENST00000368520.1:n.1358+960A>T
ENST00000463117.6:c.1370A>T ENSP00000440689.1:p.His457Leu
ENST00000469258.1:n.466A>T
NM_000773.3:c.1370A>T NP_000764.1:p.His457Leu
NM_000773.4:c.1370A>T MANE Select NP_000764.1:p.His457Leu
Search 100 bp 5'
Search 100 bp 3'