Canonical Allele Identifier: CA405986295

Gene: CYP2B6

Linked Data

• MyVariant Identifiers: chr19:g.41518705A>T (hg19) ; chr19:g.41012800A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41012800A>T , CM000681.2:g.41012800A>T	GRCh38
NC_000019.9:g.41518705A>T , CM000681.1:g.41518705A>T	GRCh37
NC_000019.8:g.46210545A>T	NCBI36
NG_007929.1:g.26502A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324071.10:c.1279A>T MANE Select	ENSP00000324648.2:p.Ile427Phe
ENST00000598834.2:c.1177-173A>T
ENST00000324071.8:c.1279A>T	ENSP00000324648.2:p.Ile427Phe
ENST00000593831.1:c.571A>T	ENSP00000470582.1:p.Ile191Phe
ENST00000597612.1:n.647+315A>T
NM_000767.4:c.1279A>T	NP_000758.1:p.Ile427Phe
XM_005258569.3:c.1152+315A>T	XP_005258626.1:n.1152+315A>T
XM_006723050.2:c.1279A>T	XP_006723113.1:p.Ile427Phe
XM_011526546.1:c.1153-16A>T	XP_011524848.1:n.1153-16A>T
XM_011526547.1:c.1153-173A>T	XP_011524849.1:n.1153-173A>T
XM_011526548.1:c.799A>T	XP_011524850.1:p.Ile267Phe
XM_011526549.1:c.688A>T	XP_011524851.1:p.Ile230Phe
XM_011526550.1:c.679A>T	XP_011524852.1:p.Ile227Phe
NM_000767.5:c.1279A>T MANE Select	NP_000758.1:p.Ile427Phe