Canonical Allele Identifier: CA3850235

Gene: TFAP2B

Linked Data

• dbSNP Id: rs753154944
• ExAC: 6:50786558 T / C
• gnomAD v2: 6-50786558-T-C
• gnomAD v4: 6-50818845-T-C
• MyVariant Identifiers: chr6:g.50786558T>C (hg19) ; chr6:g.50818845T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.50818845T>C , CM000668.2:g.50818845T>C	GRCh38
NC_000006.11:g.50786558T>C , CM000668.1:g.50786558T>C	GRCh37
NC_000006.10:g.50894517T>C	NCBI36
NG_008438.1:g.5120T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344788.7:c.-80T>C	ENSP00000342252.3:n.-80T>C
ENST00000393655.3:c.-47T>C	ENSP00000377265.2:n.-47T>C
NM_003221.3:c.-47T>C	NP_003212.2:n.-47T>C
XM_006715176.2:c.-47T>C	XP_006715239.1:n.-47T>C
XM_011514834.1:c.-47T>C	XP_011513136.1:n.-47T>C
XM_011514835.1:c.-47T>C	XP_011513137.1:n.-47T>C
XM_011514836.1:c.-47T>C	XP_011513138.1:n.-47T>C
XM_011514837.1:c.-47T>C	XP_011513139.1:n.-47T>C
XM_011514837.2:c.-47T>C	XP_011513139.1:n.-47T>C
XM_017011233.1:c.46T>C	XP_016866722.1:p.Tyr16His
XM_017011234.1:c.10T>C	XP_016866723.1:p.Tyr4His
XM_017011235.2:c.-47T>C	XP_016866724.1:n.-47T>C