Canonical Allele Identifier: CA450411631

Gene: TFAP2B

Linked Data

• dbSNP Id: rs1770247249
• gnomAD v3: 6-50818963-T-C
• gnomAD v4: 6-50818963-T-C
• MyVariant Identifiers: chr6:g.50786676T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.50818963T>C , CM000668.2:g.50818963T>C	GRCh38
NC_000006.11:g.50786676T>C , CM000668.1:g.50786676T>C	GRCh37
NC_000006.10:g.50894635T>C	NCBI36
NG_008438.1:g.5238T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393655.4:c.72T>C MANE Select	ENSP00000377265.2:p.Asp24=
ENST00000344788.7:c.39T>C	ENSP00000342252.3:p.Asp13=
ENST00000393655.3:c.72T>C	ENSP00000377265.2:p.Asp24=
NM_003221.3:c.72T>C	NP_003212.2:p.Asp24=
XM_006715176.2:c.72T>C	XP_006715239.1:p.Asp24=
XM_011514834.1:c.72T>C	XP_011513136.1:p.Asp24=
XM_011514835.1:c.72T>C	XP_011513137.1:p.Asp24=
XM_011514836.1:c.72T>C	XP_011513138.1:p.Asp24=
XM_011514837.1:c.72T>C	XP_011513139.1:p.Asp24=
XM_011514837.2:c.72T>C	XP_011513139.1:p.Asp24=
XM_017011233.1:c.164T>C	XP_016866722.1:p.Ile55Thr
XM_017011234.1:c.128T>C	XP_016866723.1:p.Ile43Thr
XM_017011235.2:c.72T>C	XP_016866724.1:p.Asp24=
NM_003221.4:c.72T>C MANE Select	NP_003212.2:p.Asp24=