Canonical Allele Identifier: CA633162397

Gene: CYP2B6

Linked Data

• dbSNP Id: rs755094512
• gnomAD v2: 19-41518734-A-T
• gnomAD v4: 19-41012829-A-T
• MyVariant Identifiers: chr19:g.41518734A>T (hg19) ; chr19:g.41012829A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41012829A>T , CM000681.2:g.41012829A>T	GRCh38
NC_000019.9:g.41518734A>T , CM000681.1:g.41518734A>T	GRCh37
NC_000019.8:g.46210574A>T	NCBI36
NG_007929.1:g.26531A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324071.10:c.1294+14A>T MANE Select	ENSP00000324648.2:n.1294+14A>T
ENST00000598834.2:c.1177-144A>T
ENST00000324071.8:c.1294+14A>T	ENSP00000324648.2:n.1294+14A>T
ENST00000593831.1:c.586+14A>T	ENSP00000470582.1:n.586+14A>T
ENST00000597612.1:n.647+344A>T
NM_000767.4:c.1294+14A>T	NP_000758.1:n.1294+14A>T
XM_005258569.3:c.1152+344A>T	XP_005258626.1:n.1152+344A>T
XM_006723050.2:c.1294+14A>T	XP_006723113.1:n.1294+14A>T
XM_011526546.1:c.1166A>T	XP_011524848.1:p.His389Leu
XM_011526547.1:c.1153-144A>T	XP_011524849.1:n.1153-144A>T
XM_011526548.1:c.814+14A>T	XP_011524850.1:n.814+14A>T
XM_011526549.1:c.703+14A>T	XP_011524851.1:n.703+14A>T
XM_011526550.1:c.694+14A>T	XP_011524852.1:n.694+14A>T
NM_000767.5:c.1294+14A>T MANE Select	NP_000758.1:n.1294+14A>T