Canonical Allele Identifier: CA138859510

Gene: TFAP2B

Linked Data

• dbSNP Id: rs996357004
• gnomAD v2: 6-50786748-A-AC
• gnomAD v3: 6-50819035-A-AC
• gnomAD v4: 6-50819035-A-AC
• MyVariant Identifiers: chr6:g.50786748_50786749insC (hg19) ; chr6:g.50819035_50819036insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.50819039dup , CM000668.2:g.50819039dup	GRCh38
NC_000006.11:g.50786752dup , CM000668.1:g.50786752dup	GRCh37
NC_000006.10:g.50894711dup	NCBI36
NG_008438.1:g.5314dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393655.4:c.81+67dup MANE Select	ENSP00000377265.2:n.81+67dup
ENST00000344788.7:c.48+67dup	ENSP00000342252.3:n.48+67dup
ENST00000393655.3:c.81+67dup	ENSP00000377265.2:n.81+67dup
NM_003221.3:c.81+67dup	NP_003212.2:n.81+67dup
XM_006715176.2:c.81+67dup	XP_006715239.1:n.81+67dup
XM_011514834.1:c.81+67dup	XP_011513136.1:n.81+67dup
XM_011514835.1:c.81+67dup	XP_011513137.1:n.81+67dup
XM_011514836.1:c.81+67dup	XP_011513138.1:n.81+67dup
XM_011514837.1:c.81+67dup	XP_011513139.1:n.81+67dup
XM_011514837.2:c.81+67dup	XP_011513139.1:n.81+67dup
XM_017011233.1:c.173+67dup	XP_016866722.1:n.173+67dup
XM_017011234.1:c.137+67dup	XP_016866723.1:n.137+67dup
XM_017011235.2:c.81+67dup	XP_016866724.1:n.81+67dup
NM_003221.4:c.81+67dup MANE Select	NP_003212.2:n.81+67dup