Canonical Allele Identifier: CA1088909580

Gene: TFAP2B

Linked Data

• dbSNP Id: rs1770256370
• gnomAD v3: 6-50819248-C-CCAG
• gnomAD v4: 6-50819248-C-CCAG

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.50819248_50819249insCAG , CM000668.2:g.50819248_50819249insCAG	GRCh38
NC_000006.11:g.50786961_50786962insCAG , CM000668.1:g.50786961_50786962insCAG	GRCh37
NC_000006.10:g.50894920_50894921insCAG	NCBI36
NG_008438.1:g.5523_5524insCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393655.4:c.81+276_81+277insCAG MANE Select	ENSP00000377265.2:n.81+276_81+277insCAG
ENST00000344788.7:c.48+276_48+277insCAG	ENSP00000342252.3:n.48+276_48+277insCAG
ENST00000393655.3:c.81+276_81+277insCAG	ENSP00000377265.2:n.81+276_81+277insCAG
NM_003221.3:c.81+276_81+277insCAG	NP_003212.2:n.81+276_81+277insCAG
XM_006715176.2:c.81+276_81+277insCAG	XP_006715239.1:n.81+276_81+277insCAG
XM_011514834.1:c.81+276_81+277insCAG	XP_011513136.1:n.81+276_81+277insCAG
XM_011514835.1:c.81+276_81+277insCAG	XP_011513137.1:n.81+276_81+277insCAG
XM_011514836.1:c.81+276_81+277insCAG	XP_011513138.1:n.81+276_81+277insCAG
XM_011514837.1:c.81+276_81+277insCAG	XP_011513139.1:n.81+276_81+277insCAG
XM_011514837.2:c.81+276_81+277insCAG	XP_011513139.1:n.81+276_81+277insCAG
XM_017011233.1:c.173+276_173+277insCAG	XP_016866722.1:n.173+276_173+277insCAG
XM_017011234.1:c.137+276_137+277insCAG	XP_016866723.1:n.137+276_137+277insCAG
XM_017011235.2:c.81+276_81+277insCAG	XP_016866724.1:n.81+276_81+277insCAG
NM_003221.4:c.81+276_81+277insCAG MANE Select	NP_003212.2:n.81+276_81+277insCAG