Canonical Allele Identifier: CA450411607
Gene: TFAP2B HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.50786652T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.50818939T>A , CM000668.2:g.50818939T>A GRCh38
NC_000006.11:g.50786652T>A , CM000668.1:g.50786652T>A GRCh37
NC_000006.10:g.50894611T>A NCBI36
NG_008438.1:g.5214T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000393655.4:c.48T>A MANE Select ENSP00000377265.2:p.Leu16=
ENST00000344788.7:c.15T>A ENSP00000342252.3:p.Leu5=
ENST00000393655.3:c.48T>A ENSP00000377265.2:p.Leu16=
NM_003221.3:c.48T>A NP_003212.2:p.Leu16=
XM_006715176.2:c.48T>A XP_006715239.1:p.Leu16=
XM_011514834.1:c.48T>A XP_011513136.1:p.Leu16=
XM_011514835.1:c.48T>A XP_011513137.1:p.Leu16=
XM_011514836.1:c.48T>A XP_011513138.1:p.Leu16=
XM_011514837.1:c.48T>A XP_011513139.1:p.Leu16=
XM_011514837.2:c.48T>A XP_011513139.1:p.Leu16=
XM_017011233.1:c.140T>A XP_016866722.1:p.Leu47Ter
XM_017011234.1:c.104T>A XP_016866723.1:p.Leu35Ter
XM_017011235.2:c.48T>A XP_016866724.1:p.Leu16=
NM_003221.4:c.48T>A MANE Select NP_003212.2:p.Leu16=