Canonical Allele Identifier: CA472245056

Gene: CYP2E1

Linked Data

• gnomAD v4: 10-133532188-C-T
• MyVariant Identifiers: chr10:g.135345692C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.133532188C>T , CM000672.2:g.133532188C>T	GRCh38
NC_000010.10:g.135345692C>T , CM000672.1:g.135345692C>T	GRCh37
NC_000010.9:g.135195682C>T	NCBI36
NG_008383.1:g.9826C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000252945.8:c.552C>T MANE Select	ENSP00000252945.3:p.Leu184=
ENST00000252945.7:c.552C>T	ENSP00000252945.3:p.Leu184=
ENST00000368520.1:n.613C>T
ENST00000418356.1:c.141C>T	ENSP00000397299.1:p.Leu47=
ENST00000421586.5:c.291C>T	ENSP00000412754.1:p.Leu97=
ENST00000463117.6:c.552C>T	ENSP00000440689.1:p.Leu184=
ENST00000477500.5:n.448+454C>T
ENST00000541080.5:c.226+454C>T
NM_000773.3:c.552C>T	NP_000764.1:p.Leu184=
NM_000773.4:c.552C>T MANE Select	NP_000764.1:p.Leu184=