Canonical Allele Identifier: CA662011903

Gene: CYP2E1

Linked Data

• dbSNP Id: rs1319135172
• MyVariant Identifiers: chr10:g.135352549_135352552del (hg19) ; chr10:g.133539045_133539048del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.133539049_133539052del , CM000672.2:g.133539049_133539052del	GRCh38
NC_000010.10:g.135352553_135352556del , CM000672.1:g.135352553_135352556del	GRCh37
NC_000010.9:g.135202543_135202546del	NCBI36
NG_008383.1:g.16687_16690del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252945.8:c.*85_*88del MANE Select	ENSP00000252945.3:n.*85_*88del
ENST00000252945.7:c.*85_*88del	ENSP00000252945.3:n.*85_*88del
ENST00000368520.1:n.1358+1157_1358+1160del
ENST00000463117.6:c.*85_*88del	ENSP00000440689.1:n.*85_*88del
ENST00000469258.1:n.663_666del
NM_000773.3:c.*85_*88del	NP_000764.1:n.*85_*88del
NM_000773.4:c.*85_*88del MANE Select	NP_000764.1:n.*85_*88del