Canonical Allele Identifier: CA9455339

Gene: CYP2B6

Linked Data

• dbSNP Id: rs749631638
• ExAC: 19:41515278 C / A
• gnomAD v2: 19-41515278-C-A
• gnomAD v3: 19-41009373-C-A
• gnomAD v4: 19-41009373-C-A
• MyVariant Identifiers: chr19:g.41515278C>A (hg19) ; chr19:g.41009373C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41009373C>A , CM000681.2:g.41009373C>A	GRCh38
NC_000019.9:g.41515278C>A , CM000681.1:g.41515278C>A	GRCh37
NC_000019.8:g.46207118C>A	NCBI36
NG_007929.1:g.23075C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324071.10:c.800C>A MANE Select	ENSP00000324648.2:p.Thr267Asn
ENST00000598834.2:c.824C>A
ENST00000324071.8:c.800C>A	ENSP00000324648.2:p.Thr267Asn
ENST00000593831.1:c.257-2925C>A	ENSP00000470582.1:n.257-2925C>A
NM_000767.4:c.800C>A	NP_000758.1:p.Thr267Asn
XM_005258569.3:c.800C>A	XP_005258626.1:p.Thr267Asn
XM_006723050.2:c.800C>A	XP_006723113.1:p.Thr267Asn
XM_011526546.1:c.800C>A	XP_011524848.1:p.Thr267Asn
XM_011526547.1:c.800C>A	XP_011524849.1:p.Thr267Asn
XM_011526548.1:c.485-2925C>A	XP_011524850.1:n.485-2925C>A
XM_011526549.1:c.209C>A	XP_011524851.1:p.Thr70Asn
XM_011526550.1:c.365-2925C>A	XP_011524852.1:n.365-2925C>A
NM_000767.5:c.800C>A MANE Select	NP_000758.1:p.Thr267Asn