Canonical Allele Identifier: CA405985914

Gene: CYP2B6

Linked Data

• MyVariant Identifiers: chr19:g.41518588G>C (hg19) ; chr19:g.41012683G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41012683G>C , CM000681.2:g.41012683G>C	GRCh38
NC_000019.9:g.41518588G>C , CM000681.1:g.41518588G>C	GRCh37
NC_000019.8:g.46210428G>C	NCBI36
NG_007929.1:g.26385G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324071.10:c.1162G>C MANE Select	ENSP00000324648.2:p.Val388Leu
ENST00000598834.2:c.1176+198G>C
ENST00000324071.8:c.1162G>C	ENSP00000324648.2:p.Val388Leu
ENST00000593831.1:c.454G>C	ENSP00000470582.1:p.Val152Leu
ENST00000597612.1:n.647+198G>C
NM_000767.4:c.1162G>C	NP_000758.1:p.Val388Leu
XM_005258569.3:c.1152+198G>C	XP_005258626.1:n.1152+198G>C
XM_006723050.2:c.1162G>C	XP_006723113.1:p.Val388Leu
XM_011526546.1:c.1153-133G>C	XP_011524848.1:n.1153-133G>C
XM_011526547.1:c.1152+198G>C	XP_011524849.1:n.1152+198G>C
XM_011526548.1:c.682G>C	XP_011524850.1:p.Val228Leu
XM_011526549.1:c.571G>C	XP_011524851.1:p.Val191Leu
XM_011526550.1:c.562G>C	XP_011524852.1:p.Val188Leu
NM_000767.5:c.1162G>C MANE Select	NP_000758.1:p.Val388Leu