Canonical Allele Identifier: CA567278166

Gene: TFAP2B

Linked Data

• dbSNP Id: rs1320221329
• gnomAD v2: 6-50786943-C-CCACCA
• gnomAD v3: 6-50819230-C-CCACCA
• gnomAD v4: 6-50819230-C-CCACCA
• MyVariant Identifiers: chr6:g.50786943_50786944insCACCA (hg19) ; chr6:g.50819230_50819231insCACCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.50819231_50819232insACCAC , CM000668.2:g.50819231_50819232insACCAC	GRCh38
NC_000006.11:g.50786944_50786945insACCAC , CM000668.1:g.50786944_50786945insACCAC	GRCh37
NC_000006.10:g.50894903_50894904insACCAC	NCBI36
NG_008438.1:g.5506_5507insACCAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393655.4:c.81+259_81+260insACCAC MANE Select	ENSP00000377265.2:n.81+259_81+260insACCAC
ENST00000344788.7:c.48+259_48+260insACCAC	ENSP00000342252.3:n.48+259_48+260insACCAC
ENST00000393655.3:c.81+259_81+260insACCAC	ENSP00000377265.2:n.81+259_81+260insACCAC
NM_003221.3:c.81+259_81+260insACCAC	NP_003212.2:n.81+259_81+260insACCAC
XM_006715176.2:c.81+259_81+260insACCAC	XP_006715239.1:n.81+259_81+260insACCAC
XM_011514834.1:c.81+259_81+260insACCAC	XP_011513136.1:n.81+259_81+260insACCAC
XM_011514835.1:c.81+259_81+260insACCAC	XP_011513137.1:n.81+259_81+260insACCAC
XM_011514836.1:c.81+259_81+260insACCAC	XP_011513138.1:n.81+259_81+260insACCAC
XM_011514837.1:c.81+259_81+260insACCAC	XP_011513139.1:n.81+259_81+260insACCAC
XM_011514837.2:c.81+259_81+260insACCAC	XP_011513139.1:n.81+259_81+260insACCAC
XM_017011233.1:c.173+259_173+260insACCAC	XP_016866722.1:n.173+259_173+260insACCAC
XM_017011234.1:c.137+259_137+260insACCAC	XP_016866723.1:n.137+259_137+260insACCAC
XM_017011235.2:c.81+259_81+260insACCAC	XP_016866724.1:n.81+259_81+260insACCAC
NM_003221.4:c.81+259_81+260insACCAC MANE Select	NP_003212.2:n.81+259_81+260insACCAC