Canonical Allele Identifier: CA405984218

Gene: CYP2B6

Linked Data

• gnomAD v4: 19-41012323-G-C
• MyVariant Identifiers: chr19:g.41518228G>C (hg19) ; chr19:g.41012323G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41012323G>C , CM000681.2:g.41012323G>C	GRCh38
NC_000019.9:g.41518228G>C , CM000681.1:g.41518228G>C	GRCh37
NC_000019.8:g.46210068G>C	NCBI36
NG_007929.1:g.26025G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000324071.10:c.990G>C MANE Select	ENSP00000324648.2:p.Gln330His
ENST00000598834.2:c.1014G>C
ENST00000324071.8:c.990G>C	ENSP00000324648.2:p.Gln330His
ENST00000593831.1:c.282G>C	ENSP00000470582.1:p.Gln94His
ENST00000597612.1:n.485G>C
NM_000767.4:c.990G>C	NP_000758.1:p.Gln330His
XM_005258569.3:c.990G>C	XP_005258626.1:p.Gln330His
XM_006723050.2:c.990G>C	XP_006723113.1:p.Gln330His
XM_011526546.1:c.990G>C	XP_011524848.1:p.Gln330His
XM_011526547.1:c.990G>C	XP_011524849.1:p.Gln330His
XM_011526548.1:c.510G>C	XP_011524850.1:p.Gln170His
XM_011526549.1:c.399G>C	XP_011524851.1:p.Gln133His
XM_011526550.1:c.390G>C	XP_011524852.1:p.Gln130His
NM_000767.5:c.990G>C MANE Select	NP_000758.1:p.Gln330His