Canonical Allele Identifier: CA5767625

Gene: CYP2E1

Linked Data

• dbSNP Id: rs201427783
• ExAC: 10:135345680 A / G
• gnomAD v2: 10-135345680-A-G
• gnomAD v4: 10-133532176-A-G
• MyVariant Identifiers: chr10:g.135345680A>G (hg19) ; chr10:g.133532176A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.133532176A>G , CM000672.2:g.133532176A>G	GRCh38
NC_000010.10:g.135345680A>G , CM000672.1:g.135345680A>G	GRCh37
NC_000010.9:g.135195670A>G	NCBI36
NG_008383.1:g.9814A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000252945.8:c.540A>G MANE Select	ENSP00000252945.3:p.Ile180Met
ENST00000252945.7:c.540A>G	ENSP00000252945.3:p.Ile180Met
ENST00000368520.1:n.601A>G
ENST00000418356.1:c.129A>G	ENSP00000397299.1:p.Ile43Met
ENST00000421586.5:c.279A>G	ENSP00000412754.1:p.Ile93Met
ENST00000463117.6:c.540A>G	ENSP00000440689.1:p.Ile180Met
ENST00000477500.5:n.448+442A>G
ENST00000541080.5:c.226+442A>G
NM_000773.3:c.540A>G	NP_000764.1:p.Ile180Met
NM_000773.4:c.540A>G MANE Select	NP_000764.1:p.Ile180Met