Canonical Allele Identifier: CA341966

Gene: TFAP2B

Linked Data

• ClinVar Variation Id: 21359
• ClinVar RCV Id: RCV000020531 ; RCV000235013
• dbSNP Id: rs80338911
• MyVariant Identifiers: chr6:g.50796397G>A (hg19) ; chr6:g.50828684G>A (hg38)
• PubMed: PMID:15684060 ; PMID:20301285 ; PMID:21643846

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.50828684G>A , CM000668.2:g.50828684G>A	GRCh38
NC_000006.11:g.50796397G>A , CM000668.1:g.50796397G>A	GRCh37
NC_000006.10:g.50904356G>A	NCBI36
NG_008438.1:g.14959G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000393655.4:c.601+5G>A MANE Select	ENSP00000377265.2:n.601+5G>A
ENST00000393655.3:c.601+5G>A	ENSP00000377265.2:n.601+5G>A
NM_003221.3:c.601+5G>A	NP_003212.2:n.601+5G>A
XM_006715176.2:c.601+5G>A	XP_006715239.1:n.601+5G>A
XM_006715177.2:c.547+5G>A	XP_006715240.1:n.547+5G>A
XM_011514834.1:c.628+5G>A	XP_011513136.1:n.628+5G>A
XM_011514835.1:c.628+5G>A	XP_011513137.1:n.628+5G>A
XM_011514836.1:c.628+5G>A	XP_011513138.1:n.628+5G>A
XM_011514837.1:c.628+5G>A	XP_011513139.1:n.628+5G>A
XM_011514837.2:c.628+5G>A	XP_011513139.1:n.628+5G>A
XM_017011233.1:c.766+5G>A	XP_016866722.1:n.766+5G>A
XM_017011234.1:c.730+5G>A	XP_016866723.1:n.730+5G>A
XM_017011235.2:c.142+5G>A	XP_016866724.1:n.142+5G>A
NM_003221.4:c.601+5G>A MANE Select	NP_003212.2:n.601+5G>A