Canonical Allele Identifier: CA9455488

Gene: CYP2B6

Linked Data

• dbSNP Id: rs200458614
• ExAC: 19:41518371 G / A
• gnomAD v2: 19-41518371-G-A
• gnomAD v3: 19-41012466-G-A
• gnomAD v4: 19-41012466-G-A
• MyVariant Identifiers: chr19:g.41518371G>A (hg19) ; chr19:g.41012466G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41012466G>A , CM000681.2:g.41012466G>A	GRCh38
NC_000019.9:g.41518371G>A , CM000681.1:g.41518371G>A	GRCh37
NC_000019.8:g.46210211G>A	NCBI36
NG_007929.1:g.26168G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000324071.10:c.1133G>A MANE Select	ENSP00000324648.2:p.Arg378Gln
ENST00000598834.2:c.1157G>A
ENST00000324071.8:c.1133G>A	ENSP00000324648.2:p.Arg378Gln
ENST00000593831.1:c.425G>A	ENSP00000470582.1:p.Arg142Gln
ENST00000597612.1:n.628G>A
NM_000767.4:c.1133G>A	NP_000758.1:p.Arg378Gln
XM_005258569.3:c.1133G>A	XP_005258626.1:p.Arg378Gln
XM_006723050.2:c.1133G>A	XP_006723113.1:p.Arg378Gln
XM_011526546.1:c.1133G>A	XP_011524848.1:p.Arg378Gln
XM_011526547.1:c.1133G>A	XP_011524849.1:p.Arg378Gln
XM_011526548.1:c.653G>A	XP_011524850.1:p.Arg218Gln
XM_011526549.1:c.542G>A	XP_011524851.1:p.Arg181Gln
XM_011526550.1:c.533G>A	XP_011524852.1:p.Arg178Gln
NM_000767.5:c.1133G>A MANE Select	NP_000758.1:p.Arg378Gln