Canonical Allele Identifier: CA9455530

Gene: CYP2B6

Linked Data

• ClinVar Variation Id: 2649920
• ClinVar RCV Id: RCV003415256
• dbSNP Id: rs35661880
• ExAC: 19:41518644 C / T
• gnomAD v2: 19-41518644-C-T
• gnomAD v3: 19-41012739-C-T
• gnomAD v4: 19-41012739-C-T
• MyVariant Identifiers: chr19:g.41518644C>T (hg19) ; chr19:g.41012739C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41012739C>T , CM000681.2:g.41012739C>T	GRCh38
NC_000019.9:g.41518644C>T , CM000681.1:g.41518644C>T	GRCh37
NC_000019.8:g.46210484C>T	NCBI36
NG_007929.1:g.26441C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324071.10:c.1218C>T MANE Select	ENSP00000324648.2:p.Asp406=
ENST00000598834.2:c.1177-234C>T
ENST00000324071.8:c.1218C>T	ENSP00000324648.2:p.Asp406=
ENST00000593831.1:c.510C>T	ENSP00000470582.1:p.Asp170=
ENST00000597612.1:n.647+254C>T
NM_000767.4:c.1218C>T	NP_000758.1:p.Asp406=
XM_005258569.3:c.1152+254C>T	XP_005258626.1:n.1152+254C>T
XM_006723050.2:c.1218C>T	XP_006723113.1:p.Asp406=
XM_011526546.1:c.1153-77C>T	XP_011524848.1:n.1153-77C>T
XM_011526547.1:c.1153-234C>T	XP_011524849.1:n.1153-234C>T
XM_011526548.1:c.738C>T	XP_011524850.1:p.Asp246=
XM_011526549.1:c.627C>T	XP_011524851.1:p.Asp209=
XM_011526550.1:c.618C>T	XP_011524852.1:p.Asp206=
NM_000767.5:c.1218C>T MANE Select	NP_000758.1:p.Asp406=