Canonical Allele Identifier: CA567278047

Gene: TFAP2B

Linked Data

• dbSNP Id: rs1334615308
• gnomAD v2: 6-50786580-A-G
• gnomAD v4: 6-50818867-A-G
• MyVariant Identifiers: chr6:g.50786580A>G (hg19) ; chr6:g.50818867A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.50818867A>G , CM000668.2:g.50818867A>G	GRCh38
NC_000006.11:g.50786580A>G , CM000668.1:g.50786580A>G	GRCh37
NC_000006.10:g.50894539A>G	NCBI36
NG_008438.1:g.5142A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344788.7:c.-58A>G	ENSP00000342252.3:n.-58A>G
ENST00000393655.3:c.-25A>G	ENSP00000377265.2:n.-25A>G
NM_003221.3:c.-25A>G	NP_003212.2:n.-25A>G
XM_006715176.2:c.-25A>G	XP_006715239.1:n.-25A>G
XM_011514834.1:c.-25A>G	XP_011513136.1:n.-25A>G
XM_011514835.1:c.-25A>G	XP_011513137.1:n.-25A>G
XM_011514836.1:c.-25A>G	XP_011513138.1:n.-25A>G
XM_011514837.1:c.-25A>G	XP_011513139.1:n.-25A>G
XM_011514837.2:c.-25A>G	XP_011513139.1:n.-25A>G
XM_017011233.1:c.68A>G	XP_016866722.1:p.Lys23Arg
XM_017011234.1:c.32A>G	XP_016866723.1:p.Lys11Arg
XM_017011235.2:c.-25A>G	XP_016866724.1:n.-25A>G