Canonical Allele Identifier: CA216858922
Gene: CYP2E1 HGNC NCBI
gnomAD v2:
10:135351137 G / C
gnomAD v3:
10:133537633 G / C
gnomAD v4:
chr10-133537633-G-C
Joint Max Group AF 0.88370817 (NFE)
Genomes Max Group AF 0.88242148 (NFE)
Exomes Max Group AF 0.88324146 (NFE)
dbSNP:
2070676
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133537633G>C , CM000672.2:g.133537633G>C GRCh38
NC_000010.10:g.135351137G>C , CM000672.1:g.135351137G>C GRCh37
NC_000010.9:g.135201127G>C NCBI36
NG_008383.1:g.15271G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252945.8:c.1156-118G>C MANE Select ENSP00000252945.3:n.1156-118G>C
ENST00000252945.7:c.1156-118G>C ENSP00000252945.3:n.1156-118G>C
ENST00000368520.1:n.1217-118G>C
ENST00000418356.1:c.745-118G>C ENSP00000397299.1:n.745-118G>C
ENST00000421586.5:c.895-118G>C ENSP00000412754.1:n.895-118G>C
ENST00000463117.6:c.1156-118G>C ENSP00000440689.1:n.1156-118G>C
ENST00000469258.1:n.134G>C
ENST00000541080.5:c.572-118G>C
NM_000773.3:c.1156-118G>C NP_000764.1:n.1156-118G>C
NM_000773.4:c.1156-118G>C MANE Select NP_000764.1:n.1156-118G>C
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