Canonical Allele Identifier: CA362701937
Gene: TFAP2A HGNC NCBI
TFAP2A-AS2 HGNC NCBI

Linked Data

dbSNP Id: rs1757621475
gnomAD v4: 6-10404730-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.10404730G>A , CM000668.2:g.10404730G>A GRCh38
NC_000006.11:g.10404963G>A , CM000668.1:g.10404963G>A GRCh37
NC_000006.10:g.10512949G>A NCBI36
NG_016151.1:g.19835C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000379608.9:c.524C>T (TFAP2A) ENSP00000368928.3:p.Ser175Phe
ENST00000379613.10:c.548C>T (TFAP2A) MANE Select ENSP00000368933.5:p.Ser183Phe
ENST00000482890.6:c.548C>T (TFAP2A) ENSP00000418541.2:p.Ser183Phe
ENST00000488193.7:c.*39C>T (TFAP2A) ENSP00000419823.3:n.*39C>T
ENST00000498450.3:c.113C>T (TFAP2A) ENSP00000419961.3:p.Ser38Phe
ENST00000319516.8:c.530C>T (TFAP2A) ENSP00000316516.4:p.Ser177Phe
ENST00000379608.7:c.524C>T (TFAP2A) ENSP00000368928.3:p.Ser175Phe
ENST00000379613.7:c.548C>T (TFAP2A) ENSP00000368933.3:p.Ser183Phe
ENST00000466073.5:c.542C>T (TFAP2A) ENSP00000417495.1:p.Ser181Phe
ENST00000473652.1:n.596C>T (TFAP2A)
ENST00000475264.5:c.256C>T (TFAP2A)
ENST00000478375.5:n.542C>T (TFAP2A)
ENST00000482890.5:c.542C>T (TFAP2A) ENSP00000418541.1:p.Ser181Phe
ENST00000488193.5:c.*39C>T (TFAP2A) ENSP00000419823.1:n.*39C>T
ENST00000489805.5:c.*39C>T (TFAP2A) ENSP00000420568.1:n.*39C>T
ENST00000490875.5:n.784C>T (TFAP2A)
ENST00000497266.5:n.513C>T (TFAP2A)
ENST00000498450.1:c.113C>T (TFAP2A) ENSP00000419961.1:p.Ser38Phe
NM_001032280.2:c.524C>T (TFAP2A) NP_001027451.1:p.Ser175Phe
NM_001042425.1:c.530C>T (TFAP2A) NP_001035890.1:p.Ser177Phe
NM_003220.2:c.542C>T (TFAP2A) NP_003211.1:p.Ser181Phe
XM_006715175.2:c.677C>T (TFAP2A) XP_006715238.1:p.Ser226Phe
XM_011514833.1:c.392C>T (TFAP2A) XP_011513135.1:p.Ser131Phe
NR_145448.1:n.229G>A (TFAP2A-AS2)
XM_011514833.2:c.392C>T (TFAP2A) XP_011513135.1:p.Ser131Phe
XM_017011232.1:c.788C>T (TFAP2A) XP_016866721.1:p.Ser263Phe
NM_003220.3:c.542C>T (TFAP2A) NP_003211.1:p.Ser181Phe
NM_001032280.3:c.524C>T (TFAP2A) NP_001027451.1:p.Ser175Phe
NM_001042425.2:c.530C>T (TFAP2A) NP_001035890.1:p.Ser177Phe
NM_001372066.1:c.548C>T (TFAP2A) MANE Select NP_001358995.1:p.Ser183Phe
NM_001042425.3:c.530C>T (TFAP2A) NP_001035890.1:p.Ser177Phe