Canonical Allele Identifier: CA9455541

Gene: CYP2B6

Linked Data

• dbSNP Id: rs35010098
• ExAC: 19:41518708 C / A
• gnomAD v2: 19-41518708-C-A
• gnomAD v3: 19-41012803-C-A
• gnomAD v4: 19-41012803-C-A
• MyVariant Identifiers: chr19:g.41518708C>A (hg19) ; chr19:g.41012803C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41012803C>A , CM000681.2:g.41012803C>A	GRCh38
NC_000019.9:g.41518708C>A , CM000681.1:g.41518708C>A	GRCh37
NC_000019.8:g.46210548C>A	NCBI36
NG_007929.1:g.26505C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324071.10:c.1282C>A MANE Select	ENSP00000324648.2:p.Pro428Thr
ENST00000598834.2:c.1177-170C>A
ENST00000324071.8:c.1282C>A	ENSP00000324648.2:p.Pro428Thr
ENST00000593831.1:c.574C>A	ENSP00000470582.1:p.Pro192Thr
ENST00000597612.1:n.647+318C>A
NM_000767.4:c.1282C>A	NP_000758.1:p.Pro428Thr
XM_005258569.3:c.1152+318C>A	XP_005258626.1:n.1152+318C>A
XM_006723050.2:c.1282C>A	XP_006723113.1:p.Pro428Thr
XM_011526546.1:c.1153-13C>A	XP_011524848.1:n.1153-13C>A
XM_011526547.1:c.1153-170C>A	XP_011524849.1:n.1153-170C>A
XM_011526548.1:c.802C>A	XP_011524850.1:p.Pro268Thr
XM_011526549.1:c.691C>A	XP_011524851.1:p.Pro231Thr
XM_011526550.1:c.682C>A	XP_011524852.1:p.Pro228Thr
NM_000767.5:c.1282C>A MANE Select	NP_000758.1:p.Pro428Thr