Canonical Allele Identifier: CA5767605

Gene: CYP2E1

Linked Data

• dbSNP Id: rs763652251
• ExAC: 10:135345606 G / T
• gnomAD v4: 10-133532102-G-T
• MyVariant Identifiers: chr10:g.135345606G>T (hg19) ; chr10:g.133532102G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.133532102G>T , CM000672.2:g.133532102G>T	GRCh38
NC_000010.10:g.135345606G>T , CM000672.1:g.135345606G>T	GRCh37
NC_000010.9:g.135195596G>T	NCBI36
NG_008383.1:g.9740G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000252945.8:c.488-22G>T MANE Select	ENSP00000252945.3:n.488-22G>T
ENST00000252945.7:c.488-22G>T	ENSP00000252945.3:n.488-22G>T
ENST00000368520.1:n.527G>T
ENST00000418356.1:c.77-22G>T	ENSP00000397299.1:n.77-22G>T
ENST00000421586.5:c.227-22G>T	ENSP00000412754.1:n.227-22G>T
ENST00000463117.6:c.488-22G>T	ENSP00000440689.1:n.488-22G>T
ENST00000477500.5:n.448+368G>T
ENST00000480558.1:n.713-22G>T
ENST00000541080.5:c.226+368G>T
NM_000773.3:c.488-22G>T	NP_000764.1:n.488-22G>T
NM_000773.4:c.488-22G>T MANE Select	NP_000764.1:n.488-22G>T