Canonical Allele Identifier: CA378842004
Gene: CYP2E1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.135352293T>G (hg19) chr10:g.133538789T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133538789T>G , CM000672.2:g.133538789T>G GRCh38
NC_000010.10:g.135352293T>G , CM000672.1:g.135352293T>G GRCh37
NC_000010.9:g.135202283T>G NCBI36
NG_008383.1:g.16427T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252945.8:c.1307T>G MANE Select ENSP00000252945.3:p.Val436Gly
ENST00000252945.7:c.1307T>G ENSP00000252945.3:p.Val436Gly
ENST00000368520.1:n.1358+897T>G
ENST00000418356.1:c.896T>G ENSP00000397299.1:p.Val299Gly
ENST00000421586.5:c.1046T>G ENSP00000412754.1:p.Val349Gly
ENST00000463117.6:c.1307T>G ENSP00000440689.1:p.Val436Gly
ENST00000469258.1:n.403T>G
ENST00000541080.5:c.723T>G
NM_000773.3:c.1307T>G NP_000764.1:p.Val436Gly
NM_000773.4:c.1307T>G MANE Select NP_000764.1:p.Val436Gly
Search 100 bp 5'
Search 100 bp 3'