Canonical Allele Identifier: CA378835002

Gene: CYP2E1

Linked Data

• MyVariant Identifiers: chr10:g.135345628G>C (hg19) ; chr10:g.133532124G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.133532124G>C , CM000672.2:g.133532124G>C	GRCh38
NC_000010.10:g.135345628G>C , CM000672.1:g.135345628G>C	GRCh37
NC_000010.9:g.135195618G>C	NCBI36
NG_008383.1:g.9762G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000252945.8:c.488G>C MANE Select	ENSP00000252945.3:p.Gly163Ala
ENST00000252945.7:c.488G>C	ENSP00000252945.3:p.Gly163Ala
ENST00000368520.1:n.549G>C
ENST00000418356.1:c.77G>C	ENSP00000397299.1:p.Gly26Ala
ENST00000421586.5:c.227G>C	ENSP00000412754.1:p.Gly76Ala
ENST00000463117.6:c.488G>C	ENSP00000440689.1:p.Gly163Ala
ENST00000477500.5:n.448+390G>C
ENST00000480558.1:n.713G>C
ENST00000541080.5:c.226+390G>C
NM_000773.3:c.488G>C	NP_000764.1:p.Gly163Ala
NM_000773.4:c.488G>C MANE Select	NP_000764.1:p.Gly163Ala