Canonical Allele Identifier: CA1088915000

Gene: TFAP2B

Linked Data

• dbSNP Id: rs932527471
• gnomAD v3: 6-50830592-G-A
• gnomAD v4: 6-50830592-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.50830592G>A , CM000668.2:g.50830592G>A	GRCh38
NC_000006.11:g.50798305G>A , CM000668.1:g.50798305G>A	GRCh37
NC_000006.10:g.50906264G>A	NCBI36
NG_008438.1:g.16867G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393655.4:c.601+1913G>A MANE Select	ENSP00000377265.2:n.601+1913G>A
ENST00000393655.3:c.601+1913G>A	ENSP00000377265.2:n.601+1913G>A
NM_003221.3:c.601+1913G>A	NP_003212.2:n.601+1913G>A
XM_006715176.2:c.601+1913G>A	XP_006715239.1:n.601+1913G>A
XM_006715177.2:c.547+1913G>A	XP_006715240.1:n.547+1913G>A
XM_011514834.1:c.628+1913G>A	XP_011513136.1:n.628+1913G>A
XM_011514835.1:c.628+1913G>A	XP_011513137.1:n.628+1913G>A
XM_011514836.1:c.628+1913G>A	XP_011513138.1:n.628+1913G>A
XM_011514837.1:c.628+1913G>A	XP_011513139.1:n.628+1913G>A
XM_011514837.2:c.628+1913G>A	XP_011513139.1:n.628+1913G>A
XM_017011233.1:c.766+1913G>A	XP_016866722.1:n.766+1913G>A
XM_017011234.1:c.730+1913G>A	XP_016866723.1:n.730+1913G>A
XM_017011235.2:c.142+1913G>A	XP_016866724.1:n.142+1913G>A
NM_003221.4:c.601+1913G>A MANE Select	NP_003212.2:n.601+1913G>A