Canonical Allele Identifier: CA650336851
Gene: TFAP2B HGNC NCBI

Linked Data

dbSNP Id: rs1561955869
gnomAD v3: 6-50819083-C-T
gnomAD v4: 6-50819083-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.50819083C>T , CM000668.2:g.50819083C>T GRCh38
NC_000006.11:g.50786796C>T , CM000668.1:g.50786796C>T GRCh37
NC_000006.10:g.50894755C>T NCBI36
NG_008438.1:g.5358C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000393655.4:c.81+111C>T MANE Select ENSP00000377265.2:n.81+111C>T
ENST00000344788.7:c.48+111C>T ENSP00000342252.3:n.48+111C>T
ENST00000393655.3:c.81+111C>T ENSP00000377265.2:n.81+111C>T
NM_003221.3:c.81+111C>T NP_003212.2:n.81+111C>T
XM_006715176.2:c.81+111C>T XP_006715239.1:n.81+111C>T
XM_011514834.1:c.81+111C>T XP_011513136.1:n.81+111C>T
XM_011514835.1:c.81+111C>T XP_011513137.1:n.81+111C>T
XM_011514836.1:c.81+111C>T XP_011513138.1:n.81+111C>T
XM_011514837.1:c.81+111C>T XP_011513139.1:n.81+111C>T
XM_011514837.2:c.81+111C>T XP_011513139.1:n.81+111C>T
XM_017011233.1:c.173+111C>T XP_016866722.1:n.173+111C>T
XM_017011234.1:c.137+111C>T XP_016866723.1:n.137+111C>T
XM_017011235.2:c.81+111C>T XP_016866724.1:n.81+111C>T
NM_003221.4:c.81+111C>T MANE Select NP_003212.2:n.81+111C>T