Canonical Allele Identifier: CA126951
Gene: CYP2E1 HGNC NCBI

Linked Data

ClinVar Variation Id: 16888
ClinVar RCV Id: RCV000018384
dbSNP Id: rs6413432

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133535040T>A , CM000672.2:g.133535040T>A GRCh38
NC_000010.10:g.135348544T>A , CM000672.1:g.135348544T>A GRCh37
NC_000010.9:g.135198534T>A NCBI36
NG_008383.1:g.12678T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000252945.8:c.967+1143T>A MANE Select ENSP00000252945.3:n.967+1143T>A
ENST00000252945.7:c.967+1143T>A ENSP00000252945.3:n.967+1143T>A
ENST00000368520.1:n.1028+1143T>A
ENST00000418356.1:c.556+1143T>A ENSP00000397299.1:n.556+1143T>A
ENST00000421586.5:c.706+1143T>A ENSP00000412754.1:n.706+1143T>A
ENST00000463117.6:c.967+1143T>A ENSP00000440689.1:n.967+1143T>A
ENST00000541080.5:c.384-2023T>A
NM_000773.3:c.967+1143T>A NP_000764.1:n.967+1143T>A
NM_000773.4:c.967+1143T>A MANE Select NP_000764.1:n.967+1143T>A