Canonical Allele Identifier: CA378835312

Gene: CYP2E1

Linked Data

• dbSNP Id: rs1220862293
• gnomAD v2: 10-135345693-T-C
• gnomAD v4: 10-133532189-T-C
• MyVariant Identifiers: chr10:g.135345693T>C (hg19) ; chr10:g.133532189T>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000252945.8:c.553T>C MANE Select	ENSP00000252945.3:p.Phe185Leu
ENST00000252945.7:c.553T>C	ENSP00000252945.3:p.Phe185Leu
ENST00000368520.1:n.614T>C
ENST00000418356.1:c.142T>C	ENSP00000397299.1:p.Phe48Leu
ENST00000421586.5:c.292T>C	ENSP00000412754.1:p.Phe98Leu
ENST00000463117.6:c.553T>C	ENSP00000440689.1:p.Phe185Leu
ENST00000477500.5:n.448+455T>C
ENST00000541080.5:c.226+455T>C
NM_000773.3:c.553T>C	NP_000764.1:p.Phe185Leu
NM_000773.4:c.553T>C MANE Select	NP_000764.1:p.Phe185Leu