Canonical Allele Identifier: CA405985975

Gene: CYP2B6

Linked Data

• gnomAD v4: 19-41012696-T-G
• MyVariant Identifiers: chr19:g.41518601T>G (hg19) ; chr19:g.41012696T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41012696T>G , CM000681.2:g.41012696T>G	GRCh38
NC_000019.9:g.41518601T>G , CM000681.1:g.41518601T>G	GRCh37
NC_000019.8:g.46210441T>G	NCBI36
NG_007929.1:g.26398T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324071.10:c.1175T>G MANE Select	ENSP00000324648.2:p.Leu392Arg
ENST00000598834.2:c.1176+211T>G
ENST00000324071.8:c.1175T>G	ENSP00000324648.2:p.Leu392Arg
ENST00000593831.1:c.467T>G	ENSP00000470582.1:p.Leu156Arg
ENST00000597612.1:n.647+211T>G
NM_000767.4:c.1175T>G	NP_000758.1:p.Leu392Arg
XM_005258569.3:c.1152+211T>G	XP_005258626.1:n.1152+211T>G
XM_006723050.2:c.1175T>G	XP_006723113.1:p.Leu392Arg
XM_011526546.1:c.1153-120T>G	XP_011524848.1:n.1153-120T>G
XM_011526547.1:c.1152+211T>G	XP_011524849.1:n.1152+211T>G
XM_011526548.1:c.695T>G	XP_011524850.1:p.Leu232Arg
XM_011526549.1:c.584T>G	XP_011524851.1:p.Leu195Arg
XM_011526550.1:c.575T>G	XP_011524852.1:p.Leu192Arg
NM_000767.5:c.1175T>G MANE Select	NP_000758.1:p.Leu392Arg