Canonical Allele Identifier: CA9455533

Gene: CYP2B6

Linked Data

• dbSNP Id: rs749827793
• ExAC: 19:41518663 T / C
• gnomAD v2: 19-41518663-T-C
• gnomAD v4: 19-41012758-T-C
• MyVariant Identifiers: chr19:g.41518663T>C (hg19) ; chr19:g.41012758T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41012758T>C , CM000681.2:g.41012758T>C	GRCh38
NC_000019.9:g.41518663T>C , CM000681.1:g.41518663T>C	GRCh37
NC_000019.8:g.46210503T>C	NCBI36
NG_007929.1:g.26460T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324071.10:c.1237T>C MANE Select	ENSP00000324648.2:p.Phe413Leu
ENST00000598834.2:c.1177-215T>C
ENST00000324071.8:c.1237T>C	ENSP00000324648.2:p.Phe413Leu
ENST00000593831.1:c.529T>C	ENSP00000470582.1:p.Phe177Leu
ENST00000597612.1:n.647+273T>C
NM_000767.4:c.1237T>C	NP_000758.1:p.Phe413Leu
XM_005258569.3:c.1152+273T>C	XP_005258626.1:n.1152+273T>C
XM_006723050.2:c.1237T>C	XP_006723113.1:p.Phe413Leu
XM_011526546.1:c.1153-58T>C	XP_011524848.1:n.1153-58T>C
XM_011526547.1:c.1153-215T>C	XP_011524849.1:n.1153-215T>C
XM_011526548.1:c.757T>C	XP_011524850.1:p.Phe253Leu
XM_011526549.1:c.646T>C	XP_011524851.1:p.Phe216Leu
XM_011526550.1:c.637T>C	XP_011524852.1:p.Phe213Leu
NM_000767.5:c.1237T>C MANE Select	NP_000758.1:p.Phe413Leu