Canonical Allele Identifier: CA2611616453

Gene: CYP2E1

Linked Data

• gnomAD v4: 10-133532001-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.133532001T>C , CM000672.2:g.133532001T>C	GRCh38
NC_000010.10:g.135345505T>C , CM000672.1:g.135345505T>C	GRCh37
NC_000010.9:g.135195495T>C	NCBI36
NG_008383.1:g.9639T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252945.8:c.488-123T>C MANE Select	ENSP00000252945.3:n.488-123T>C
ENST00000252945.7:c.488-123T>C	ENSP00000252945.3:n.488-123T>C
ENST00000368520.1:n.426T>C
ENST00000418356.1:c.77-123T>C	ENSP00000397299.1:n.77-123T>C
ENST00000421586.5:c.227-123T>C	ENSP00000412754.1:n.227-123T>C
ENST00000463117.6:c.488-123T>C	ENSP00000440689.1:n.488-123T>C
ENST00000477500.5:n.448+267T>C
ENST00000480558.1:n.713-123T>C
ENST00000541080.5:c.226+267T>C
NM_000773.3:c.488-123T>C	NP_000764.1:n.488-123T>C
NM_000773.4:c.488-123T>C MANE Select	NP_000764.1:n.488-123T>C