Canonical Allele Identifier: CA597015923

Gene: CYP2E1

Linked Data

• dbSNP Id: rs1236879231
• gnomAD v2: 10-135345612-A-C
• gnomAD v4: 10-133532108-A-C
• MyVariant Identifiers: chr10:g.135345612A>C (hg19) ; chr10:g.133532108A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.133532108A>C , CM000672.2:g.133532108A>C	GRCh38
NC_000010.10:g.135345612A>C , CM000672.1:g.135345612A>C	GRCh37
NC_000010.9:g.135195602A>C	NCBI36
NG_008383.1:g.9746A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000252945.8:c.488-16A>C MANE Select	ENSP00000252945.3:n.488-16A>C
ENST00000252945.7:c.488-16A>C	ENSP00000252945.3:n.488-16A>C
ENST00000368520.1:n.533A>C
ENST00000418356.1:c.77-16A>C	ENSP00000397299.1:n.77-16A>C
ENST00000421586.5:c.227-16A>C	ENSP00000412754.1:n.227-16A>C
ENST00000463117.6:c.488-16A>C	ENSP00000440689.1:n.488-16A>C
ENST00000477500.5:n.448+374A>C
ENST00000480558.1:n.713-16A>C
ENST00000541080.5:c.226+374A>C
NM_000773.3:c.488-16A>C	NP_000764.1:n.488-16A>C
NM_000773.4:c.488-16A>C MANE Select	NP_000764.1:n.488-16A>C