Canonical Allele Identifier: CA308499368

Gene: CYP2B6

Linked Data

• dbSNP Id: rs182855196
• gnomAD v2: 19-41518799-A-C
• gnomAD v3: 19-41012894-A-C
• gnomAD v4: 19-41012894-A-C
• MyVariant Identifiers: chr19:g.41518799A>C (hg19) ; chr19:g.41012894A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41012894A>C , CM000681.2:g.41012894A>C	GRCh38
NC_000019.9:g.41518799A>C , CM000681.1:g.41518799A>C	GRCh37
NC_000019.8:g.46210639A>C	NCBI36
NG_007929.1:g.26596A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324071.10:c.1294+79A>C MANE Select	ENSP00000324648.2:n.1294+79A>C
ENST00000598834.2:c.1177-79A>C
ENST00000324071.8:c.1294+79A>C	ENSP00000324648.2:n.1294+79A>C
ENST00000593831.1:c.586+79A>C	ENSP00000470582.1:n.586+79A>C
ENST00000597612.1:n.647+409A>C
NM_000767.4:c.1294+79A>C	NP_000758.1:n.1294+79A>C
XM_005258569.3:c.1152+409A>C	XP_005258626.1:n.1152+409A>C
XM_006723050.2:c.1295-79A>C	XP_006723113.1:n.1295-79A>C
XM_011526546.1:c.1231A>C	XP_011524848.1:p.Thr411Pro
XM_011526547.1:c.1153-79A>C	XP_011524849.1:n.1153-79A>C
XM_011526548.1:c.814+79A>C	XP_011524850.1:n.814+79A>C
XM_011526549.1:c.703+79A>C	XP_011524851.1:n.703+79A>C
XM_011526550.1:c.694+79A>C	XP_011524852.1:n.694+79A>C
NM_000767.5:c.1294+79A>C MANE Select	NP_000758.1:n.1294+79A>C