Canonical Allele Identifier: CA308499325

Gene: CYP2B6

Linked Data

• dbSNP Id: rs193922918
• gnomAD v2: 19-41518645-G-A
• gnomAD v3: 19-41012740-G-A
• gnomAD v4: 19-41012740-G-A
• COSMIC: COSM996891
• MyVariant Identifiers: chr19:g.41518645G>A (hg19) ; chr19:g.41012740G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41012740G>A , CM000681.2:g.41012740G>A	GRCh38
NC_000019.9:g.41518645G>A , CM000681.1:g.41518645G>A	GRCh37
NC_000019.8:g.46210485G>A	NCBI36
NG_007929.1:g.26442G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324071.10:c.1219G>A MANE Select	ENSP00000324648.2:p.Ala407Thr
ENST00000598834.2:c.1177-233G>A
ENST00000324071.8:c.1219G>A	ENSP00000324648.2:p.Ala407Thr
ENST00000593831.1:c.511G>A	ENSP00000470582.1:p.Ala171Thr
ENST00000597612.1:n.647+255G>A
NM_000767.4:c.1219G>A	NP_000758.1:p.Ala407Thr
XM_005258569.3:c.1152+255G>A	XP_005258626.1:n.1152+255G>A
XM_006723050.2:c.1219G>A	XP_006723113.1:p.Ala407Thr
XM_011526546.1:c.1153-76G>A	XP_011524848.1:n.1153-76G>A
XM_011526547.1:c.1153-233G>A	XP_011524849.1:n.1153-233G>A
XM_011526548.1:c.739G>A	XP_011524850.1:p.Ala247Thr
XM_011526549.1:c.628G>A	XP_011524851.1:p.Ala210Thr
XM_011526550.1:c.619G>A	XP_011524852.1:p.Ala207Thr
NM_000767.5:c.1219G>A MANE Select	NP_000758.1:p.Ala407Thr