Canonical Allele Identifier: CA126951
Gene: CYP2E1 HGNC NCBI
gnomAD v2:
10:135348544 T / A
gnomAD v3:
10:133535040 T / A
gnomAD v4:
chr10-133535040-T-A
Joint Max Group AF 0.24233972 (EAS)
Genomes Max Group AF 0.24233972 (EAS)
ClinVar RCV:
RCV000018384
ClinVar Variation:
16888
dbSNP:
6413432
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133535040T>A , CM000672.2:g.133535040T>A GRCh38
NC_000010.10:g.135348544T>A , CM000672.1:g.135348544T>A GRCh37
NC_000010.9:g.135198534T>A NCBI36
NG_008383.1:g.12678T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252945.8:c.967+1143T>A MANE Select ENSP00000252945.3:n.967+1143T>A
ENST00000252945.7:c.967+1143T>A ENSP00000252945.3:n.967+1143T>A
ENST00000368520.1:n.1028+1143T>A
ENST00000418356.1:c.556+1143T>A ENSP00000397299.1:n.556+1143T>A
ENST00000421586.5:c.706+1143T>A ENSP00000412754.1:n.706+1143T>A
ENST00000463117.6:c.967+1143T>A ENSP00000440689.1:n.967+1143T>A
ENST00000541080.5:c.384-2023T>A
NM_000773.3:c.967+1143T>A NP_000764.1:n.967+1143T>A
NM_000773.4:c.967+1143T>A MANE Select NP_000764.1:n.967+1143T>A
Search 100 bp 5'
Search 100 bp 3'