Canonical Allele Identifier: CA9455340

Gene: CYP2B6

Linked Data

• dbSNP Id: rs771406601
• ExAC: 19:41515284 T / G
• gnomAD v2: 19-41515284-T-G
• gnomAD v3: 19-41009379-T-G
• gnomAD v4: 19-41009379-T-G
• MyVariant Identifiers: chr19:g.41515284T>G (hg19) ; chr19:g.41009379T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41009379T>G , CM000681.2:g.41009379T>G	GRCh38
NC_000019.9:g.41515284T>G , CM000681.1:g.41515284T>G	GRCh37
NC_000019.8:g.46207124T>G	NCBI36
NG_007929.1:g.23081T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000324071.10:c.806T>G MANE Select	ENSP00000324648.2:p.Leu269Arg
ENST00000598834.2:c.830T>G
ENST00000324071.8:c.806T>G	ENSP00000324648.2:p.Leu269Arg
ENST00000593831.1:c.257-2919T>G	ENSP00000470582.1:n.257-2919T>G
NM_000767.4:c.806T>G	NP_000758.1:p.Leu269Arg
XM_005258569.3:c.806T>G	XP_005258626.1:p.Leu269Arg
XM_006723050.2:c.806T>G	XP_006723113.1:p.Leu269Arg
XM_011526546.1:c.806T>G	XP_011524848.1:p.Leu269Arg
XM_011526547.1:c.806T>G	XP_011524849.1:p.Leu269Arg
XM_011526548.1:c.485-2919T>G	XP_011524850.1:n.485-2919T>G
XM_011526549.1:c.215T>G	XP_011524851.1:p.Leu72Arg
XM_011526550.1:c.365-2919T>G	XP_011524852.1:n.365-2919T>G
NM_000767.5:c.806T>G MANE Select	NP_000758.1:p.Leu269Arg