Canonical Allele Identifier: CA405973386
Community Standard Title: NM_000767.5(CYP2B6):c.341T>A (p.Ile114Asn)
Gene: CYP2B6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41004303T>A , CM000681.2:g.41004303T>A GRCh38
NC_000019.9:g.41510208T>A , CM000681.1:g.41510208T>A GRCh37
NC_000019.8:g.46202048T>A NCBI36
NG_007929.1:g.18005T>A

Transcript Alleles

HGVS Amino-acid Change
NM_000767.5:c.341T>A MANE Select NP_000758.1:p.Ile114Asn
ENST00000324071.10:c.341T>A MANE Select ENSP00000324648.2:p.Ile114Asn
NM_000767.4:c.341T>A NP_000758.1:p.Ile114Asn
ENST00000324071.8:c.341T>A ENSP00000324648.2:p.Ile114Asn
ENST00000593831.1:c.113T>A ENSP00000470582.1:p.Ile38Asn
ENST00000598834.1:n.243T>A
ENST00000598834.2:c.243T>A
XM_005258569.3:c.341T>A XP_005258626.1:p.Ile114Asn
XM_006723050.2:c.341T>A XP_006723113.1:p.Ile114Asn
XM_011526546.1:c.341T>A XP_011524848.1:p.Ile114Asn
XM_011526547.1:c.341T>A XP_011524849.1:p.Ile114Asn
XM_011526548.1:c.341T>A XP_011524850.1:p.Ile114Asn
XM_011526550.1:c.221T>A XP_011524852.1:p.Ile74Asn