Canonical Allele Identifier: CA405978065
Community Standard Title: NM_000767.5(CYP2B6):c.593T>A (p.Met198Lys)
Gene: CYP2B6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41007013T>A , CM000681.2:g.41007013T>A GRCh38
NC_000019.9:g.41512918T>A , CM000681.1:g.41512918T>A GRCh37
NC_000019.8:g.46204758T>A NCBI36
NG_007929.1:g.20715T>A

Transcript Alleles

HGVS Amino-acid Change
NM_000767.5:c.593T>A MANE Select NP_000758.1:p.Met198Lys
ENST00000324071.10:c.593T>A MANE Select ENSP00000324648.2:p.Met198Lys
NM_000767.4:c.593T>A NP_000758.1:p.Met198Lys
ENST00000324071.8:c.593T>A ENSP00000324648.2:p.Met198Lys
ENST00000593831.1:c.256+2567T>A ENSP00000470582.1:n.256+2567T>A
ENST00000594187.1:n.177T>A
ENST00000598834.1:n.495T>A
ENST00000598834.2:c.495T>A
XM_005258569.3:c.593T>A XP_005258626.1:p.Met198Lys
XM_006723050.2:c.593T>A XP_006723113.1:p.Met198Lys
XM_011526546.1:c.593T>A XP_011524848.1:p.Met198Lys
XM_011526547.1:c.593T>A XP_011524849.1:p.Met198Lys
XM_011526548.1:c.484+2567T>A XP_011524850.1:n.484+2567T>A
XM_011526549.1:c.2T>A XP_011524851.1:p.Met1Lys
XM_011526550.1:c.364+2567T>A XP_011524852.1:n.364+2567T>A