Canonical Allele Identifier: CA378835228

Gene: CYP2E1

Linked Data

• dbSNP Id: rs1851346672
• gnomAD v4: 10-133532174-A-G
• MyVariant Identifiers: chr10:g.135345678A>G (hg19) ; chr10:g.133532174A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.133532174A>G , CM000672.2:g.133532174A>G	GRCh38
NC_000010.10:g.135345678A>G , CM000672.1:g.135345678A>G	GRCh37
NC_000010.9:g.135195668A>G	NCBI36
NG_008383.1:g.9812A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000252945.8:c.538A>G MANE Select	ENSP00000252945.3:p.Ile180Val
ENST00000252945.7:c.538A>G	ENSP00000252945.3:p.Ile180Val
ENST00000368520.1:n.599A>G
ENST00000418356.1:c.127A>G	ENSP00000397299.1:p.Ile43Val
ENST00000421586.5:c.277A>G	ENSP00000412754.1:p.Ile93Val
ENST00000463117.6:c.538A>G	ENSP00000440689.1:p.Ile180Val
ENST00000477500.5:n.448+440A>G
ENST00000541080.5:c.226+440A>G
NM_000773.3:c.538A>G	NP_000764.1:p.Ile180Val
NM_000773.4:c.538A>G MANE Select	NP_000764.1:p.Ile180Val