Canonical Allele Identifier: CA10622374

Gene: TFAP2B

Linked Data

• ClinVar Variation Id: 357322
• ClinVar RCV Id: RCV000321300
• dbSNP Id: rs568007912
• gnomAD v3: 6-50845325-T-TG
• gnomAD v4: 6-50845325-T-TG
• MyVariant Identifiers: chr6:g.50813043dupG (hg19) ; chr6:g.50813038_50813039insG (hg19) ; chr6:g.50845330dupG (hg38) ; chr6:g.50845325_50845326insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.50845330dup , CM000668.2:g.50845330dup	GRCh38
NC_000006.11:g.50813043dup , CM000668.1:g.50813043dup	GRCh37
NC_000006.10:g.50921002dup	NCBI36
NG_008438.1:g.31605dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393655.4:c.*1938dup MANE Select	ENSP00000377265.2:n.*1938dup
ENST00000393655.3:c.*1938dup	ENSP00000377265.2:n.*1938dup
NM_003221.3:c.*1938dup	NP_003212.2:n.*1938dup
XM_006715176.2:c.*877dup	XP_006715239.1:n.*877dup
XM_006715177.2:c.*877dup	XP_006715240.1:n.*877dup
XM_011514834.1:c.*877dup	XP_011513136.1:n.*877dup
XM_011514835.1:c.*877dup	XP_011513137.1:n.*877dup
XM_011514836.1:c.*2-371dup	XP_011513138.1:n.*2-371dup
XM_011514837.1:c.*1938dup	XP_011513139.1:n.*1938dup
XM_011514837.2:c.*1938dup	XP_011513139.1:n.*1938dup
XM_017011233.1:c.*1938dup	XP_016866722.1:n.*1938dup
XM_017011234.1:c.*1938dup	XP_016866723.1:n.*1938dup
XM_017011235.2:c.*1938dup	XP_016866724.1:n.*1938dup
NM_003221.4:c.*1938dup MANE Select	NP_003212.2:n.*1938dup