Canonical Allele Identifier: CA9455491

Gene: CYP2B6

Linked Data

• dbSNP Id: rs775843062
• ExAC: 19:41518379 A / C
• gnomAD v2: 19-41518379-A-C
• gnomAD v4: 19-41012474-A-C
• MyVariant Identifiers: chr19:g.41518379A>C (hg19) ; chr19:g.41012474A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41012474A>C , CM000681.2:g.41012474A>C	GRCh38
NC_000019.9:g.41518379A>C , CM000681.1:g.41518379A>C	GRCh37
NC_000019.8:g.46210219A>C	NCBI36
NG_007929.1:g.26176A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000324071.10:c.1141A>C MANE Select	ENSP00000324648.2:p.Ile381Leu
ENST00000598834.2:c.1165A>C
ENST00000324071.8:c.1141A>C	ENSP00000324648.2:p.Ile381Leu
ENST00000593831.1:c.433A>C	ENSP00000470582.1:p.Ile145Leu
ENST00000597612.1:n.636A>C
NM_000767.4:c.1141A>C	NP_000758.1:p.Ile381Leu
XM_005258569.3:c.1141A>C	XP_005258626.1:p.Ile381Leu
XM_006723050.2:c.1141A>C	XP_006723113.1:p.Ile381Leu
XM_011526546.1:c.1141A>C	XP_011524848.1:p.Ile381Leu
XM_011526547.1:c.1141A>C	XP_011524849.1:p.Ile381Leu
XM_011526548.1:c.661A>C	XP_011524850.1:p.Ile221Leu
XM_011526549.1:c.550A>C	XP_011524851.1:p.Ile184Leu
XM_011526550.1:c.541A>C	XP_011524852.1:p.Ile181Leu
NM_000767.5:c.1141A>C MANE Select	NP_000758.1:p.Ile381Leu