Canonical Allele Identifier: CA405986296

Gene: CYP2B6

Linked Data

• MyVariant Identifiers: chr19:g.41518706T>A (hg19) ; chr19:g.41012801T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41012801T>A , CM000681.2:g.41012801T>A	GRCh38
NC_000019.9:g.41518706T>A , CM000681.1:g.41518706T>A	GRCh37
NC_000019.8:g.46210546T>A	NCBI36
NG_007929.1:g.26503T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324071.10:c.1280T>A MANE Select	ENSP00000324648.2:p.Ile427Asn
ENST00000598834.2:c.1177-172T>A
ENST00000324071.8:c.1280T>A	ENSP00000324648.2:p.Ile427Asn
ENST00000593831.1:c.572T>A	ENSP00000470582.1:p.Ile191Asn
ENST00000597612.1:n.647+316T>A
NM_000767.4:c.1280T>A	NP_000758.1:p.Ile427Asn
XM_005258569.3:c.1152+316T>A	XP_005258626.1:n.1152+316T>A
XM_006723050.2:c.1280T>A	XP_006723113.1:p.Ile427Asn
XM_011526546.1:c.1153-15T>A	XP_011524848.1:n.1153-15T>A
XM_011526547.1:c.1153-172T>A	XP_011524849.1:n.1153-172T>A
XM_011526548.1:c.800T>A	XP_011524850.1:p.Ile267Asn
XM_011526549.1:c.689T>A	XP_011524851.1:p.Ile230Asn
XM_011526550.1:c.680T>A	XP_011524852.1:p.Ile227Asn
NM_000767.5:c.1280T>A MANE Select	NP_000758.1:p.Ile427Asn