Canonical Allele Identifier: CA233033
Gene: CYP2B6 HGNC NCBI

Linked Data

ClinVar Variation Id: 143911
ClinVar RCV Id: RCV000133446
dbSNP Id: rs34097093
COSMIC: COSM79160

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41012465C>T , CM000681.2:g.41012465C>T GRCh38
NC_000019.9:g.41518370C>T , CM000681.1:g.41518370C>T GRCh37
NC_000019.8:g.46210210C>T NCBI36
NG_007929.1:g.26167C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000324071.10:c.1132C>T MANE Select ENSP00000324648.2:p.Arg378Ter
ENST00000598834.2:c.1156C>T
ENST00000324071.8:c.1132C>T ENSP00000324648.2:p.Arg378Ter
ENST00000593831.1:c.424C>T ENSP00000470582.1:p.Arg142Ter
ENST00000597612.1:n.627C>T
NM_000767.4:c.1132C>T NP_000758.1:p.Arg378Ter
XM_005258569.3:c.1132C>T XP_005258626.1:p.Arg378Ter
XM_006723050.2:c.1132C>T XP_006723113.1:p.Arg378Ter
XM_011526546.1:c.1132C>T XP_011524848.1:p.Arg378Ter
XM_011526547.1:c.1132C>T XP_011524849.1:p.Arg378Ter
XM_011526548.1:c.652C>T XP_011524850.1:p.Arg218Ter
XM_011526549.1:c.541C>T XP_011524851.1:p.Arg181Ter
XM_011526550.1:c.532C>T XP_011524852.1:p.Arg178Ter
NM_000767.5:c.1132C>T MANE Select NP_000758.1:p.Arg378Ter