Canonical Allele Identifier: CA378835311

Gene: CYP2E1

Linked Data

• MyVariant Identifiers: chr10:g.135345693T>G (hg19) ; chr10:g.133532189T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.133532189T>G , CM000672.2:g.133532189T>G	GRCh38
NC_000010.10:g.135345693T>G , CM000672.1:g.135345693T>G	GRCh37
NC_000010.9:g.135195683T>G	NCBI36
NG_008383.1:g.9827T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000252945.8:c.553T>G MANE Select	ENSP00000252945.3:p.Phe185Val
ENST00000252945.7:c.553T>G	ENSP00000252945.3:p.Phe185Val
ENST00000368520.1:n.614T>G
ENST00000418356.1:c.142T>G	ENSP00000397299.1:p.Phe48Val
ENST00000421586.5:c.292T>G	ENSP00000412754.1:p.Phe98Val
ENST00000463117.6:c.553T>G	ENSP00000440689.1:p.Phe185Val
ENST00000477500.5:n.448+455T>G
ENST00000541080.5:c.226+455T>G
NM_000773.3:c.553T>G	NP_000764.1:p.Phe185Val
NM_000773.4:c.553T>G MANE Select	NP_000764.1:p.Phe185Val