Canonical Allele Identifier: CA378835297

Gene: CYP2E1

Linked Data

• COSMIC: COSM3367971
• MyVariant Identifiers: chr10:g.135345689C>G (hg19) ; chr10:g.133532185C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.133532185C>G , CM000672.2:g.133532185C>G	GRCh38
NC_000010.10:g.135345689C>G , CM000672.1:g.135345689C>G	GRCh37
NC_000010.9:g.135195679C>G	NCBI36
NG_008383.1:g.9823C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000252945.8:c.549C>G MANE Select	ENSP00000252945.3:p.Ile183Met
ENST00000252945.7:c.549C>G	ENSP00000252945.3:p.Ile183Met
ENST00000368520.1:n.610C>G
ENST00000418356.1:c.138C>G	ENSP00000397299.1:p.Ile46Met
ENST00000421586.5:c.288C>G	ENSP00000412754.1:p.Ile96Met
ENST00000463117.6:c.549C>G	ENSP00000440689.1:p.Ile183Met
ENST00000477500.5:n.448+451C>G
ENST00000541080.5:c.226+451C>G
NM_000773.3:c.549C>G	NP_000764.1:p.Ile183Met
NM_000773.4:c.549C>G MANE Select	NP_000764.1:p.Ile183Met