Canonical Allele Identifier: CA507538515

Gene: CYP2B6

Linked Data

• dbSNP Id: rs1175849424
• gnomAD v2: 19-41518686-G-A
• gnomAD v4: 19-41012781-G-A
• MyVariant Identifiers: chr19:g.41518686G>A (hg19) ; chr19:g.41012781G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41012781G>A , CM000681.2:g.41012781G>A	GRCh38
NC_000019.9:g.41518686G>A , CM000681.1:g.41518686G>A	GRCh37
NC_000019.8:g.46210526G>A	NCBI36
NG_007929.1:g.26483G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324071.10:c.1260G>A MANE Select	ENSP00000324648.2:p.Leu420=
ENST00000598834.2:c.1177-192G>A
ENST00000324071.8:c.1260G>A	ENSP00000324648.2:p.Leu420=
ENST00000593831.1:c.552G>A	ENSP00000470582.1:p.Leu184=
ENST00000597612.1:n.647+296G>A
NM_000767.4:c.1260G>A	NP_000758.1:p.Leu420=
XM_005258569.3:c.1152+296G>A	XP_005258626.1:n.1152+296G>A
XM_006723050.2:c.1260G>A	XP_006723113.1:p.Leu420=
XM_011526546.1:c.1153-35G>A	XP_011524848.1:n.1153-35G>A
XM_011526547.1:c.1153-192G>A	XP_011524849.1:n.1153-192G>A
XM_011526548.1:c.780G>A	XP_011524850.1:p.Leu260=
XM_011526549.1:c.669G>A	XP_011524851.1:p.Leu223=
XM_011526550.1:c.660G>A	XP_011524852.1:p.Leu220=
NM_000767.5:c.1260G>A MANE Select	NP_000758.1:p.Leu420=