Canonical Allele Identifier: CA405986228

Gene: CYP2B6

Linked Data

• dbSNP Id: rs1228475210
• gnomAD v2: 19-41518673-C-T
• gnomAD v4: 19-41012768-C-T
• MyVariant Identifiers: chr19:g.41518673C>T (hg19) ; chr19:g.41012768C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41012768C>T , CM000681.2:g.41012768C>T	GRCh38
NC_000019.9:g.41518673C>T , CM000681.1:g.41518673C>T	GRCh37
NC_000019.8:g.46210513C>T	NCBI36
NG_007929.1:g.26470C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324071.10:c.1247C>T MANE Select	ENSP00000324648.2:p.Ala416Val
ENST00000598834.2:c.1177-205C>T
ENST00000324071.8:c.1247C>T	ENSP00000324648.2:p.Ala416Val
ENST00000593831.1:c.539C>T	ENSP00000470582.1:p.Ala180Val
ENST00000597612.1:n.647+283C>T
NM_000767.4:c.1247C>T	NP_000758.1:p.Ala416Val
XM_005258569.3:c.1152+283C>T	XP_005258626.1:n.1152+283C>T
XM_006723050.2:c.1247C>T	XP_006723113.1:p.Ala416Val
XM_011526546.1:c.1153-48C>T	XP_011524848.1:n.1153-48C>T
XM_011526547.1:c.1153-205C>T	XP_011524849.1:n.1153-205C>T
XM_011526548.1:c.767C>T	XP_011524850.1:p.Ala256Val
XM_011526549.1:c.656C>T	XP_011524851.1:p.Ala219Val
XM_011526550.1:c.647C>T	XP_011524852.1:p.Ala216Val
NM_000767.5:c.1247C>T MANE Select	NP_000758.1:p.Ala416Val