Canonical Allele Identifier: CA1088909539

Gene: TFAP2B

Linked Data

• dbSNP Id: rs1369304111
• gnomAD v3: 6-50819228-T-TCCC
• gnomAD v4: 6-50819228-T-TCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.50819232_50819234dup , CM000668.2:g.50819232_50819234dup	GRCh38
NC_000006.11:g.50786945_50786947dup , CM000668.1:g.50786945_50786947dup	GRCh37
NC_000006.10:g.50894904_50894906dup	NCBI36
NG_008438.1:g.5507_5509dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393655.4:c.81+260_81+262dup MANE Select	ENSP00000377265.2:n.81+260_81+262dup
ENST00000344788.7:c.48+260_48+262dup	ENSP00000342252.3:n.48+260_48+262dup
ENST00000393655.3:c.81+260_81+262dup	ENSP00000377265.2:n.81+260_81+262dup
NM_003221.3:c.81+260_81+262dup	NP_003212.2:n.81+260_81+262dup
XM_006715176.2:c.81+260_81+262dup	XP_006715239.1:n.81+260_81+262dup
XM_011514834.1:c.81+260_81+262dup	XP_011513136.1:n.81+260_81+262dup
XM_011514835.1:c.81+260_81+262dup	XP_011513137.1:n.81+260_81+262dup
XM_011514836.1:c.81+260_81+262dup	XP_011513138.1:n.81+260_81+262dup
XM_011514837.1:c.81+260_81+262dup	XP_011513139.1:n.81+260_81+262dup
XM_011514837.2:c.81+260_81+262dup	XP_011513139.1:n.81+260_81+262dup
XM_017011233.1:c.173+260_173+262dup	XP_016866722.1:n.173+260_173+262dup
XM_017011234.1:c.137+260_137+262dup	XP_016866723.1:n.137+260_137+262dup
XM_017011235.2:c.81+260_81+262dup	XP_016866724.1:n.81+260_81+262dup
NM_003221.4:c.81+260_81+262dup MANE Select	NP_003212.2:n.81+260_81+262dup