Canonical Allele Identifier: CA5767825
Gene: CYP2E1 HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.133537760G>T
GRCh37 chr10:g.135351264G>T
Revel Score:
ENST00000463117 0.065
ENST00000252945 (MANE Select) 0.065
ENST00000421586 0.065
ENST00000418356 0.065
gnomAD v2:
10:135351264 G / T
gnomAD v3:
10:133537760 G / T
gnomAD v4:
chr10-133537760-G-T
Joint Max Group AF 0.00012835 (NFE)
Genomes Max Group AF 0.00005842 (NFE)
Exomes Max Group AF 0.00012981 (NFE)
dbSNP:
55897648
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133537760G>T , CM000672.2:g.133537760G>T GRCh38
NC_000010.10:g.135351264G>T , CM000672.1:g.135351264G>T GRCh37
NC_000010.9:g.135201254G>T NCBI36
NG_008383.1:g.15398G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252945.8:c.1165G>T MANE Select ENSP00000252945.3:p.Val389Leu
ENST00000252945.7:c.1165G>T ENSP00000252945.3:p.Val389Leu
ENST00000368520.1:n.1226G>T
ENST00000418356.1:c.754G>T ENSP00000397299.1:p.Val252Leu
ENST00000421586.5:c.904G>T ENSP00000412754.1:p.Val302Leu
ENST00000463117.6:c.1165G>T ENSP00000440689.1:p.Val389Leu
ENST00000469258.1:n.261G>T
ENST00000541080.5:c.581G>T
NM_000773.3:c.1165G>T NP_000764.1:p.Val389Leu
NM_000773.4:c.1165G>T MANE Select NP_000764.1:p.Val389Leu
Search 100 bp 5'
Search 100 bp 3'