Canonical Allele Identifier: CA340720

Gene: TFAP2B

Linked Data

• ClinVar Variation Id: 8043
• ClinVar RCV Id: RCV000008509 ; RCV002508186
• dbSNP Id: rs80338915
• gnomAD v4: 6-50838007-G-A
• COSMIC: COSM3628375
• MyVariant Identifiers: chr6:g.50805720G>A (hg19) ; chr6:g.50838007G>A (hg38)
• PubMed: PMID:11505339 ; PMID:20301285 ; PMID:29555671

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.50838007G>A , CM000668.2:g.50838007G>A	GRCh38
NC_000006.11:g.50805720G>A , CM000668.1:g.50805720G>A	GRCh37
NC_000006.10:g.50913679G>A	NCBI36
NG_008438.1:g.24282G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393655.4:c.854G>A MANE Select	ENSP00000377265.2:p.Arg285Gln
ENST00000393655.3:c.854G>A	ENSP00000377265.2:p.Arg285Gln
NM_003221.3:c.854G>A	NP_003212.2:p.Arg285Gln
XM_006715176.2:c.854G>A	XP_006715239.1:p.Arg285Gln
XM_006715177.2:c.800G>A	XP_006715240.1:p.Arg267Gln
XM_011514834.1:c.881G>A	XP_011513136.1:p.Arg294Gln
XM_011514835.1:c.881G>A	XP_011513137.1:p.Arg294Gln
XM_011514836.1:c.881G>A	XP_011513138.1:p.Arg294Gln
XM_011514837.1:c.881G>A	XP_011513139.1:p.Arg294Gln
XM_011514837.2:c.881G>A	XP_011513139.1:p.Arg294Gln
XM_017011233.1:c.1019G>A	XP_016866722.1:p.Arg340Gln
XM_017011234.1:c.983G>A	XP_016866723.1:p.Arg328Gln
XM_017011235.2:c.395G>A	XP_016866724.1:p.Arg132Gln
NM_003221.4:c.854G>A MANE Select	NP_003212.2:p.Arg285Gln