Canonical Allele Identifier: CA378842048

Gene: CYP2E1

Linked Data

• MyVariant Identifiers: chr10:g.135352298G>T (hg19) ; chr10:g.133538794G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.133538794G>T , CM000672.2:g.133538794G>T	GRCh38
NC_000010.10:g.135352298G>T , CM000672.1:g.135352298G>T	GRCh37
NC_000010.9:g.135202288G>T	NCBI36
NG_008383.1:g.16432G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252945.8:c.1312G>T MANE Select	ENSP00000252945.3:p.Ala438Ser
ENST00000252945.7:c.1312G>T	ENSP00000252945.3:p.Ala438Ser
ENST00000368520.1:n.1358+902G>T
ENST00000418356.1:c.901G>T	ENSP00000397299.1:p.Ala301Ser
ENST00000421586.5:c.1051G>T	ENSP00000412754.1:p.Ala351Ser
ENST00000463117.6:c.1312G>T	ENSP00000440689.1:p.Ala438Ser
ENST00000469258.1:n.408G>T
ENST00000541080.5:c.728G>T
NM_000773.3:c.1312G>T	NP_000764.1:p.Ala438Ser
NM_000773.4:c.1312G>T MANE Select	NP_000764.1:p.Ala438Ser