Canonical Allele Identifier: CA5767628

Gene: CYP2E1

Linked Data

• dbSNP Id: rs76138620
• ExAC: 10:135345684 G / A
• gnomAD v2: 10-135345684-G-A
• gnomAD v3: 10-133532180-G-A
• gnomAD v4: 10-133532180-G-A
• MyVariant Identifiers: chr10:g.135345684G>A (hg19) ; chr10:g.133532180G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.133532180G>A , CM000672.2:g.133532180G>A	GRCh38
NC_000010.10:g.135345684G>A , CM000672.1:g.135345684G>A	GRCh37
NC_000010.9:g.135195674G>A	NCBI36
NG_008383.1:g.9818G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000252945.8:c.544G>A MANE Select	ENSP00000252945.3:p.Asp182Asn
ENST00000252945.7:c.544G>A	ENSP00000252945.3:p.Asp182Asn
ENST00000368520.1:n.605G>A
ENST00000418356.1:c.133G>A	ENSP00000397299.1:p.Asp45Asn
ENST00000421586.5:c.283G>A	ENSP00000412754.1:p.Asp95Asn
ENST00000463117.6:c.544G>A	ENSP00000440689.1:p.Asp182Asn
ENST00000477500.5:n.448+446G>A
ENST00000541080.5:c.226+446G>A
NM_000773.3:c.544G>A	NP_000764.1:p.Asp182Asn
NM_000773.4:c.544G>A MANE Select	NP_000764.1:p.Asp182Asn