Canonical Allele Identifier: CA405984486

Gene: CYP2B6

Linked Data

• gnomAD v4: 19-41012391-T-C
• MyVariant Identifiers: chr19:g.41518296T>C (hg19) ; chr19:g.41012391T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41012391T>C , CM000681.2:g.41012391T>C	GRCh38
NC_000019.9:g.41518296T>C , CM000681.1:g.41518296T>C	GRCh37
NC_000019.8:g.46210136T>C	NCBI36
NG_007929.1:g.26093T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324071.10:c.1058T>C MANE Select	ENSP00000324648.2:p.Ile353Thr
ENST00000598834.2:c.1082T>C
ENST00000324071.8:c.1058T>C	ENSP00000324648.2:p.Ile353Thr
ENST00000593831.1:c.350T>C	ENSP00000470582.1:p.Ile117Thr
ENST00000597612.1:n.553T>C
NM_000767.4:c.1058T>C	NP_000758.1:p.Ile353Thr
XM_005258569.3:c.1058T>C	XP_005258626.1:p.Ile353Thr
XM_006723050.2:c.1058T>C	XP_006723113.1:p.Ile353Thr
XM_011526546.1:c.1058T>C	XP_011524848.1:p.Ile353Thr
XM_011526547.1:c.1058T>C	XP_011524849.1:p.Ile353Thr
XM_011526548.1:c.578T>C	XP_011524850.1:p.Ile193Thr
XM_011526549.1:c.467T>C	XP_011524851.1:p.Ile156Thr
XM_011526550.1:c.458T>C	XP_011524852.1:p.Ile153Thr
NM_000767.5:c.1058T>C MANE Select	NP_000758.1:p.Ile353Thr