Canonical Allele Identifier: CA308499357

Gene: CYP2B6

Linked Data

• dbSNP Id: rs915284934
• gnomAD v3: 19-41012862-C-A
• gnomAD v4: 19-41012862-C-A
• MyVariant Identifiers: chr19:g.41518767C>A (hg19) ; chr19:g.41012862C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41012862C>A , CM000681.2:g.41012862C>A	GRCh38
NC_000019.9:g.41518767C>A , CM000681.1:g.41518767C>A	GRCh37
NC_000019.8:g.46210607C>A	NCBI36
NG_007929.1:g.26564C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324071.10:c.1294+47C>A MANE Select	ENSP00000324648.2:n.1294+47C>A
ENST00000598834.2:c.1177-111C>A
ENST00000324071.8:c.1294+47C>A	ENSP00000324648.2:n.1294+47C>A
ENST00000593831.1:c.586+47C>A	ENSP00000470582.1:n.586+47C>A
ENST00000597612.1:n.647+377C>A
NM_000767.4:c.1294+47C>A	NP_000758.1:n.1294+47C>A
XM_005258569.3:c.1152+377C>A	XP_005258626.1:n.1152+377C>A
XM_006723050.2:c.1294+47C>A	XP_006723113.1:n.1294+47C>A
XM_011526546.1:c.1199C>A	XP_011524848.1:p.Thr400Asn
XM_011526547.1:c.1153-111C>A	XP_011524849.1:n.1153-111C>A
XM_011526548.1:c.814+47C>A	XP_011524850.1:n.814+47C>A
XM_011526549.1:c.703+47C>A	XP_011524851.1:n.703+47C>A
XM_011526550.1:c.694+47C>A	XP_011524852.1:n.694+47C>A
NM_000767.5:c.1294+47C>A MANE Select	NP_000758.1:n.1294+47C>A