Canonical Allele Identifier: CA230626
Gene: CYP2B6 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.41004158G>T
GRCh38 chr19:g.41004158_41004183delinsTATATGGTGAGAGCCTCAGAGGCACT
GRCh37 chr19:g.41510063G>T
GRCh37 chr19:g.41510063_41510088delinsTATATGGTGAGAGCCTCAGAGGCACT
Revel Score:
ENST00000324071 (MANE Select) 0.194
ENST00000330446 0.194
gnomAD v2:
19:41510063 G / T
gnomAD v3:
19:41004158 G / T
gnomAD v4:
chr19-41004158-G-T
Joint Max Group AF 0.0021403 (AFR)
Genomes Max Group AF 0.00200724 (AFR)
Exomes Max Group AF 0.00201912 (AFR)
ClinVar RCV:
RCV000106295
ClinVar Variation:
120172
dbSNP:
186335453
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41004158G>T , CM000681.2:g.41004158G>T GRCh38
NC_000019.9:g.41510063G>T , CM000681.1:g.41510063G>T GRCh37
NC_000019.8:g.46201903G>T NCBI36
NG_007929.1:g.17860G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000324071.10:c.329G>T MANE Select ENSP00000324648.2:p.Gly110Val
ENST00000598834.2:c.231G>T
ENST00000324071.8:c.329G>T ENSP00000324648.2:p.Gly110Val
ENST00000593831.1:c.101G>T ENSP00000470582.1:p.Gly34Val
ENST00000598834.1:n.231G>T
NM_000767.4:c.329G>T NP_000758.1:p.Gly110Val
XM_005258569.3:c.329G>T XP_005258626.1:p.Gly110Val
XM_006723050.2:c.329G>T XP_006723113.1:p.Gly110Val
XM_011526546.1:c.329G>T XP_011524848.1:p.Gly110Val
XM_011526547.1:c.329G>T XP_011524849.1:p.Gly110Val
XM_011526548.1:c.329G>T XP_011524850.1:p.Gly110Val
XM_011526550.1:c.209G>T XP_011524852.1:p.Gly70Val
NM_000767.5:c.329G>T MANE Select NP_000758.1:p.Gly110Val
Search 100 bp 5'
Search 100 bp 3'