Canonical Allele Identifier: CA341964

Gene: TFAP2B

Linked Data

• ClinVar Variation Id: 21358
• ClinVar RCV Id: RCV000020530
• dbSNP Id: rs13216733
• ExAC: 6:50791482 C / A
• gnomAD v2: 6-50791482-C-A
• gnomAD v3: 6-50823769-C-A
• gnomAD v4: 6-50823769-C-A
• MyVariant Identifiers: chr6:g.50791482C>A (hg19) ; chr6:g.50823769C>A (hg38)
• PubMed: PMID:20301285

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.50823769C>A , CM000668.2:g.50823769C>A	GRCh38
NC_000006.11:g.50791482C>A , CM000668.1:g.50791482C>A	GRCh37
NC_000006.10:g.50899441C>A	NCBI36
NG_008438.1:g.10044C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393655.4:c.444C>A MANE Select	ENSP00000377265.2:p.Asp148Glu
ENST00000344788.7:c.438C>A	ENSP00000342252.3:p.Asp146Glu
ENST00000393655.3:c.444C>A	ENSP00000377265.2:p.Asp148Glu
ENST00000489228.1:n.739C>A
NM_003221.3:c.444C>A	NP_003212.2:p.Asp148Glu
XM_006715176.2:c.444C>A	XP_006715239.1:p.Asp148Glu
XM_006715177.2:c.390C>A	XP_006715240.1:p.Asp130Glu
XM_011514834.1:c.471C>A	XP_011513136.1:p.Asp157Glu
XM_011514835.1:c.471C>A	XP_011513137.1:p.Asp157Glu
XM_011514836.1:c.471C>A	XP_011513138.1:p.Asp157Glu
XM_011514837.1:c.471C>A	XP_011513139.1:p.Asp157Glu
XM_011514837.2:c.471C>A	XP_011513139.1:p.Asp157Glu
XM_017011233.1:c.609C>A	XP_016866722.1:p.Asp203Glu
XM_017011234.1:c.573C>A	XP_016866723.1:p.Asp191Glu
XM_017011235.2:c.81+4797C>A	XP_016866724.1:n.81+4797C>A
NM_003221.4:c.444C>A MANE Select	NP_003212.2:p.Asp148Glu