Canonical Allele Identifier: CA405978076
Gene: CYP2B6 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41007015C>A , CM000681.2:g.41007015C>A GRCh38
NC_000019.9:g.41512920C>A , CM000681.1:g.41512920C>A GRCh37
NC_000019.8:g.46204760C>A NCBI36
NG_007929.1:g.20717C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000324071.10:c.595C>A MANE Select ENSP00000324648.2:p.Leu199Met
ENST00000598834.2:c.497C>A
ENST00000324071.8:c.595C>A ENSP00000324648.2:p.Leu199Met
ENST00000593831.1:c.256+2569C>A ENSP00000470582.1:n.256+2569C>A
ENST00000594187.1:n.179C>A
ENST00000598834.1:n.497C>A
NM_000767.4:c.595C>A NP_000758.1:p.Leu199Met
XM_005258569.3:c.595C>A XP_005258626.1:p.Leu199Met
XM_006723050.2:c.595C>A XP_006723113.1:p.Leu199Met
XM_011526546.1:c.595C>A XP_011524848.1:p.Leu199Met
XM_011526547.1:c.595C>A XP_011524849.1:p.Leu199Met
XM_011526548.1:c.484+2569C>A XP_011524850.1:n.484+2569C>A
XM_011526549.1:c.4C>A XP_011524851.1:p.Leu2Met
XM_011526550.1:c.364+2569C>A XP_011524852.1:n.364+2569C>A
NM_000767.5:c.595C>A MANE Select NP_000758.1:p.Leu199Met