Canonical Allele Identifier: CA9455535

Gene: CYP2B6

Linked Data

• dbSNP Id: rs748783536
• ExAC: 19:41518677 T / TG
• gnomAD v2: 19-41518677-T-TG
• MyVariant Identifiers: chr19:g.41518677_41518678insG (hg19) ; chr19:g.41012772_41012773insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41012776dup , CM000681.2:g.41012776dup	GRCh38
NC_000019.9:g.41518681dup , CM000681.1:g.41518681dup	GRCh37
NC_000019.8:g.46210521dup	NCBI36
NG_007929.1:g.26478dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324071.10:c.1255dup MANE Select	ENSP00000324648.2:p.Ala419GlyfsTer6
ENST00000598834.2:c.1177-197dup
ENST00000324071.8:c.1255dup	ENSP00000324648.2:p.Ala419GlyfsTer6
ENST00000593831.1:c.547dup	ENSP00000470582.1:p.Ala183GlyfsTer6
ENST00000597612.1:n.647+291dup
NM_000767.4:c.1255dup	NP_000758.1:p.Ala419GlyfsTer6
XM_005258569.3:c.1152+291dup	XP_005258626.1:n.1152+291dup
XM_006723050.2:c.1255dup	XP_006723113.1:p.Ala419GlyfsTer6
XM_011526546.1:c.1153-40dup	XP_011524848.1:n.1153-40dup
XM_011526547.1:c.1153-197dup	XP_011524849.1:n.1153-197dup
XM_011526548.1:c.775dup	XP_011524850.1:p.Ala259GlyfsTer6
XM_011526549.1:c.664dup	XP_011524851.1:p.Ala222GlyfsTer6
XM_011526550.1:c.655dup	XP_011524852.1:p.Ala219GlyfsTer6
NM_000767.5:c.1255dup MANE Select	NP_000758.1:p.Ala419GlyfsTer6