Canonical Allele Identifier: CA138859468

Gene: TFAP2B

Linked Data

• dbSNP Id: rs908688552
• gnomAD v2: 6-50786655-G-A
• gnomAD v4: 6-50818942-G-A
• MyVariant Identifiers: chr6:g.50786655G>A (hg19) ; chr6:g.50818942G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.50818942G>A , CM000668.2:g.50818942G>A	GRCh38
NC_000006.11:g.50786655G>A , CM000668.1:g.50786655G>A	GRCh37
NC_000006.10:g.50894614G>A	NCBI36
NG_008438.1:g.5217G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393655.4:c.51G>A MANE Select	ENSP00000377265.2:p.Val17=
ENST00000344788.7:c.18G>A	ENSP00000342252.3:p.Val6=
ENST00000393655.3:c.51G>A	ENSP00000377265.2:p.Val17=
NM_003221.3:c.51G>A	NP_003212.2:p.Val17=
XM_006715176.2:c.51G>A	XP_006715239.1:p.Val17=
XM_011514834.1:c.51G>A	XP_011513136.1:p.Val17=
XM_011514835.1:c.51G>A	XP_011513137.1:p.Val17=
XM_011514836.1:c.51G>A	XP_011513138.1:p.Val17=
XM_011514837.1:c.51G>A	XP_011513139.1:p.Val17=
XM_011514837.2:c.51G>A	XP_011513139.1:p.Val17=
XM_017011233.1:c.143G>A	XP_016866722.1:p.Trp48Ter
XM_017011234.1:c.107G>A	XP_016866723.1:p.Trp36Ter
XM_017011235.2:c.51G>A	XP_016866724.1:p.Val17=
NM_003221.4:c.51G>A MANE Select	NP_003212.2:p.Val17=