Canonical Allele Identifier: CA405984777

Gene: CYP2B6

Linked Data

• dbSNP Id: rs1217330086
• gnomAD v2: 19-41518366-C-A
• MyVariant Identifiers: chr19:g.41518366C>A (hg19) ; chr19:g.41012461C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41012461C>A , CM000681.2:g.41012461C>A	GRCh38
NC_000019.9:g.41518366C>A , CM000681.1:g.41518366C>A	GRCh37
NC_000019.8:g.46210206C>A	NCBI36
NG_007929.1:g.26163C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324071.10:c.1128C>A MANE Select	ENSP00000324648.2:p.Ser376Arg
ENST00000598834.2:c.1152C>A
ENST00000324071.8:c.1128C>A	ENSP00000324648.2:p.Ser376Arg
ENST00000593831.1:c.420C>A	ENSP00000470582.1:p.Ser140Arg
ENST00000597612.1:n.623C>A
NM_000767.4:c.1128C>A	NP_000758.1:p.Ser376Arg
XM_005258569.3:c.1128C>A	XP_005258626.1:p.Ser376Arg
XM_006723050.2:c.1128C>A	XP_006723113.1:p.Ser376Arg
XM_011526546.1:c.1128C>A	XP_011524848.1:p.Ser376Arg
XM_011526547.1:c.1128C>A	XP_011524849.1:p.Ser376Arg
XM_011526548.1:c.648C>A	XP_011524850.1:p.Ser216Arg
XM_011526549.1:c.537C>A	XP_011524851.1:p.Ser179Arg
XM_011526550.1:c.528C>A	XP_011524852.1:p.Ser176Arg
NM_000767.5:c.1128C>A MANE Select	NP_000758.1:p.Ser376Arg