Canonical Allele Identifier: CA3850248

Gene: TFAP2B

Linked Data

• dbSNP Id: rs749335365
• ExAC: 6:50786632 G / A
• gnomAD v2: 6-50786632-G-A
• gnomAD v4: 6-50818919-G-A
• MyVariant Identifiers: chr6:g.50786632G>A (hg19) ; chr6:g.50818919G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.50818919G>A , CM000668.2:g.50818919G>A	GRCh38
NC_000006.11:g.50786632G>A , CM000668.1:g.50786632G>A	GRCh37
NC_000006.10:g.50894591G>A	NCBI36
NG_008438.1:g.5194G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393655.4:c.28G>A MANE Select	ENSP00000377265.2:p.Ala10Thr
ENST00000344788.7:c.-6G>A	ENSP00000342252.3:n.-6G>A
ENST00000393655.3:c.28G>A	ENSP00000377265.2:p.Ala10Thr
NM_003221.3:c.28G>A	NP_003212.2:p.Ala10Thr
XM_006715176.2:c.28G>A	XP_006715239.1:p.Ala10Thr
XM_011514834.1:c.28G>A	XP_011513136.1:p.Ala10Thr
XM_011514835.1:c.28G>A	XP_011513137.1:p.Ala10Thr
XM_011514836.1:c.28G>A	XP_011513138.1:p.Ala10Thr
XM_011514837.1:c.28G>A	XP_011513139.1:p.Ala10Thr
XM_011514837.2:c.28G>A	XP_011513139.1:p.Ala10Thr
XM_017011233.1:c.120G>A	XP_016866722.1:p.Leu40=
XM_017011234.1:c.84G>A	XP_016866723.1:p.Leu28=
XM_017011235.2:c.28G>A	XP_016866724.1:p.Ala10Thr
NM_003221.4:c.28G>A MANE Select	NP_003212.2:p.Ala10Thr