Canonical Allele Identifier: CA405978069

Gene: CYP2B6

Linked Data

• dbSNP Id: rs1216318869
• gnomAD v4: 19-41007014-G-A
• MyVariant Identifiers: chr19:g.41512919G>A (hg19) ; chr19:g.41007014G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41007014G>A , CM000681.2:g.41007014G>A	GRCh38
NC_000019.9:g.41512919G>A , CM000681.1:g.41512919G>A	GRCh37
NC_000019.8:g.46204759G>A	NCBI36
NG_007929.1:g.20716G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000324071.10:c.594G>A MANE Select	ENSP00000324648.2:p.Met198Ile
ENST00000598834.2:c.496G>A
ENST00000324071.8:c.594G>A	ENSP00000324648.2:p.Met198Ile
ENST00000593831.1:c.256+2568G>A	ENSP00000470582.1:n.256+2568G>A
ENST00000594187.1:n.178G>A
ENST00000598834.1:n.496G>A
NM_000767.4:c.594G>A	NP_000758.1:p.Met198Ile
XM_005258569.3:c.594G>A	XP_005258626.1:p.Met198Ile
XM_006723050.2:c.594G>A	XP_006723113.1:p.Met198Ile
XM_011526546.1:c.594G>A	XP_011524848.1:p.Met198Ile
XM_011526547.1:c.594G>A	XP_011524849.1:p.Met198Ile
XM_011526548.1:c.484+2568G>A	XP_011524850.1:n.484+2568G>A
XM_011526549.1:c.3G>A	XP_011524851.1:p.Met1Ile
XM_011526550.1:c.364+2568G>A	XP_011524852.1:n.364+2568G>A
NM_000767.5:c.594G>A MANE Select	NP_000758.1:p.Met198Ile