Canonical Allele Identifier: CA230624
Gene: CYP2B6 HGNC NCBI
COSMIC:
COSM4131883 (not active)
MyVariant.info:
GRCh38 chr19:g.41009358A>G
GRCh37 chr19:g.41515263A>G
Revel Score:
ENST00000324071 (MANE Select) 0.156
gnomAD v2:
19:41515263 A / G
gnomAD v3:
19:41009358 A / G
gnomAD v4:
chr19-41009358-A-G
Joint Max Group AF 0.34390564 (SAS)
Genomes Max Group AF 0.370363 (SAS)
Exomes Max Group AF 0.3414645 (SAS)
ClinVar RCV:
RCV000106294
RCV003974998
ClinVar Variation:
120171
dbSNP:
2279343
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41009358A>G , CM000681.2:g.41009358A>G GRCh38
NC_000019.9:g.41515263A>G , CM000681.1:g.41515263A>G GRCh37
NC_000019.8:g.46207103A>G NCBI36
NG_007929.1:g.23060A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000324071.10:c.785A>G MANE Select ENSP00000324648.2:p.Lys262Arg
ENST00000598834.2:c.809A>G
ENST00000324071.8:c.785A>G ENSP00000324648.2:p.Lys262Arg
ENST00000593831.1:c.257-2940A>G ENSP00000470582.1:n.257-2940A>G
NM_000767.4:c.785A>G NP_000758.1:p.Lys262Arg
XM_005258569.3:c.785A>G XP_005258626.1:p.Lys262Arg
XM_006723050.2:c.785A>G XP_006723113.1:p.Lys262Arg
XM_011526546.1:c.785A>G XP_011524848.1:p.Lys262Arg
XM_011526547.1:c.785A>G XP_011524849.1:p.Lys262Arg
XM_011526548.1:c.485-2940A>G XP_011524850.1:n.485-2940A>G
XM_011526549.1:c.194A>G XP_011524851.1:p.Lys65Arg
XM_011526550.1:c.365-2940A>G XP_011524852.1:n.365-2940A>G
NM_000767.5:c.785A>G MANE Select NP_000758.1:p.Lys262Arg
Search 100 bp 5'
Search 100 bp 3'