Canonical Allele Identifier: CA378835293

Gene: CYP2E1

Linked Data

• MyVariant Identifiers: chr10:g.135345688T>A (hg19) ; chr10:g.133532184T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.133532184T>A , CM000672.2:g.133532184T>A	GRCh38
NC_000010.10:g.135345688T>A , CM000672.1:g.135345688T>A	GRCh37
NC_000010.9:g.135195678T>A	NCBI36
NG_008383.1:g.9822T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000252945.8:c.548T>A MANE Select	ENSP00000252945.3:p.Ile183Asn
ENST00000252945.7:c.548T>A	ENSP00000252945.3:p.Ile183Asn
ENST00000368520.1:n.609T>A
ENST00000418356.1:c.137T>A	ENSP00000397299.1:p.Ile46Asn
ENST00000421586.5:c.287T>A	ENSP00000412754.1:p.Ile96Asn
ENST00000463117.6:c.548T>A	ENSP00000440689.1:p.Ile183Asn
ENST00000477500.5:n.448+450T>A
ENST00000541080.5:c.226+450T>A
NM_000773.3:c.548T>A	NP_000764.1:p.Ile183Asn
NM_000773.4:c.548T>A MANE Select	NP_000764.1:p.Ile183Asn