Canonical Allele Identifier: CA362701805
Gene: TFAP2A HGNC NCBI
TFAP2A-AS2 HGNC NCBI

Linked Data

dbSNP Id: rs1284597921
gnomAD v4: 6-10404698-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.10404698C>A , CM000668.2:g.10404698C>A GRCh38
NC_000006.11:g.10404931C>A , CM000668.1:g.10404931C>A GRCh37
NC_000006.10:g.10512917C>A NCBI36
NG_016151.1:g.19867G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000379608.9:c.556G>T (TFAP2A) ENSP00000368928.3:p.Ala186Ser
ENST00000379613.10:c.580G>T (TFAP2A) MANE Select ENSP00000368933.5:p.Ala194Ser
ENST00000482890.6:c.580G>T (TFAP2A) ENSP00000418541.2:p.Ala194Ser
ENST00000488193.7:c.*71G>T (TFAP2A) ENSP00000419823.3:n.*71G>T
ENST00000498450.3:c.145G>T (TFAP2A) ENSP00000419961.3:p.Ala49Ser
ENST00000319516.8:c.562G>T (TFAP2A) ENSP00000316516.4:p.Ala188Ser
ENST00000379608.7:c.556G>T (TFAP2A) ENSP00000368928.3:p.Ala186Ser
ENST00000379613.7:c.580G>T (TFAP2A) ENSP00000368933.3:p.Ala194Ser
ENST00000466073.5:c.574G>T (TFAP2A) ENSP00000417495.1:p.Ala192Ser
ENST00000473652.1:n.628G>T (TFAP2A)
ENST00000475264.5:c.288G>T (TFAP2A)
ENST00000478375.5:n.574G>T (TFAP2A)
ENST00000482890.5:c.574G>T (TFAP2A) ENSP00000418541.1:p.Ala192Ser
ENST00000488193.5:c.*71G>T (TFAP2A) ENSP00000419823.1:n.*71G>T
ENST00000489805.5:c.*71G>T (TFAP2A) ENSP00000420568.1:n.*71G>T
ENST00000490875.5:n.816G>T (TFAP2A)
ENST00000497266.5:n.545G>T (TFAP2A)
ENST00000498450.1:c.145G>T (TFAP2A) ENSP00000419961.1:p.Ala49Ser
NM_001032280.2:c.556G>T (TFAP2A) NP_001027451.1:p.Ala186Ser
NM_001042425.1:c.562G>T (TFAP2A) NP_001035890.1:p.Ala188Ser
NM_003220.2:c.574G>T (TFAP2A) NP_003211.1:p.Ala192Ser
XM_006715175.2:c.709G>T (TFAP2A) XP_006715238.1:p.Ala237Ser
XM_011514833.1:c.424G>T (TFAP2A) XP_011513135.1:p.Ala142Ser
NR_145448.1:n.197C>A (TFAP2A-AS2)
XM_011514833.2:c.424G>T (TFAP2A) XP_011513135.1:p.Ala142Ser
XM_017011232.1:c.820G>T (TFAP2A) XP_016866721.1:p.Ala274Ser
NM_003220.3:c.574G>T (TFAP2A) NP_003211.1:p.Ala192Ser
NM_001032280.3:c.556G>T (TFAP2A) NP_001027451.1:p.Ala186Ser
NM_001042425.2:c.562G>T (TFAP2A) NP_001035890.1:p.Ala188Ser
NM_001372066.1:c.580G>T (TFAP2A) MANE Select NP_001358995.1:p.Ala194Ser
NM_001042425.3:c.562G>T (TFAP2A) NP_001035890.1:p.Ala188Ser