Canonical Allele Identifier: CA5767824
Gene: CYP2E1 HGNC NCBI
COSMIC:
COSM384589 (not active)
MyVariant.info:
GRCh38 chr10:g.133537760G>A
GRCh37 chr10:g.135351264G>A
Revel Score:
ENST00000463117 0.008
ENST00000252945 (MANE Select) 0.008
ENST00000421586 0.008
ENST00000418356 0.008
gnomAD v2:
10:135351264 G / A
gnomAD v3:
10:133537760 G / A
gnomAD v4:
chr10-133537760-G-A
Joint Max Group AF 0.00272273 (NFE)
Genomes Max Group AF 0.00190374 (NFE)
Exomes Max Group AF 0.00275747 (NFE)
dbSNP:
55897648
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000252945.8:c.1165G>A MANE Select ENSP00000252945.3:p.Val389Ile
ENST00000252945.7:c.1165G>A ENSP00000252945.3:p.Val389Ile
ENST00000368520.1:n.1226G>A
ENST00000418356.1:c.754G>A ENSP00000397299.1:p.Val252Ile
ENST00000421586.5:c.904G>A ENSP00000412754.1:p.Val302Ile
ENST00000463117.6:c.1165G>A ENSP00000440689.1:p.Val389Ile
ENST00000469258.1:n.261G>A
ENST00000541080.5:c.581G>A
NM_000773.3:c.1165G>A NP_000764.1:p.Val389Ile
NM_000773.4:c.1165G>A MANE Select NP_000764.1:p.Val389Ile
Search 100 bp 5'
Search 100 bp 3'