Canonical Allele Identifier: CA5767500
Gene: CYP2E1 HGNC NCBI
dbSNP:
72559710
gnomAD v2:
10:135342034 G / A
gnomAD v3:
10:133528530 G / A
gnomAD v4:
chr10-133528530-G-A
Joint Max Group AF 0.00294915 (EAS)
Genomes Max Group AF 0.00194482 (EAS)
Exomes Max Group AF 0.00295708 (EAS)
MyVariant.info:
GRCh38 chr10:g.133528530G>A
GRCh37 chr10:g.135342034G>A
Revel Score:
ENST00000463117 0.125
ENST00000541261 0.125
ENST00000252945 (MANE Select) 0.125
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133528530G>A , CM000672.2:g.133528530G>A GRCh38
NC_000010.10:g.135342034G>A , CM000672.1:g.135342034G>A GRCh37
NC_000010.9:g.135192024G>A NCBI36
NG_008383.1:g.6168G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252945.8:c.227G>A MANE Select ENSP00000252945.3:p.Arg76His
ENST00000252945.7:c.227G>A ENSP00000252945.3:p.Arg76His
ENST00000418356.1:c.76+958G>A ENSP00000397299.1:n.76+958G>A
ENST00000421586.5:c.76+958G>A ENSP00000412754.1:n.76+958G>A
ENST00000463117.6:c.227G>A ENSP00000440689.1:p.Arg76His
ENST00000477500.5:n.188G>A
ENST00000480558.1:n.452G>A
ENST00000541080.5:c.76+958G>A
ENST00000541261.1:c.227G>A ENSP00000437799.1:p.Arg76His
NM_000773.3:c.227G>A NP_000764.1:p.Arg76His
NM_000773.4:c.227G>A MANE Select NP_000764.1:p.Arg76His
Search 100 bp 5'
Search 100 bp 3'