Canonical Allele Identifier: CA662011550

Gene: CYP2E1

Linked Data

• dbSNP Id: rs1346042812
• gnomAD v3: 10-133538725-G-GT
• gnomAD v4: 10-133538725-G-GT
• MyVariant Identifiers: chr10:g.135352229_135352230insT (hg19) ; chr10:g.133538725_133538726insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.133538726dup , CM000672.2:g.133538726dup	GRCh38
NC_000010.10:g.135352230dup , CM000672.1:g.135352230dup	GRCh37
NC_000010.9:g.135202220dup	NCBI36
NG_008383.1:g.16364dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252945.8:c.1298-54dup MANE Select	ENSP00000252945.3:n.1298-54dup
ENST00000252945.7:c.1298-54dup	ENSP00000252945.3:n.1298-54dup
ENST00000368520.1:n.1358+834dup
ENST00000418356.1:c.887-54dup	ENSP00000397299.1:n.887-54dup
ENST00000421586.5:c.1037-54dup	ENSP00000412754.1:n.1037-54dup
ENST00000463117.6:c.1298-54dup	ENSP00000440689.1:n.1298-54dup
ENST00000469258.1:n.394-54dup
ENST00000541080.5:c.714-54dup
NM_000773.3:c.1298-54dup	NP_000764.1:n.1298-54dup
NM_000773.4:c.1298-54dup MANE Select	NP_000764.1:n.1298-54dup