Canonical Allele Identifier: CA448717931
Gene: TFAP2A HGNC NCBI
TFAP2A-AS2 HGNC NCBI

Linked Data

dbSNP Id: rs1230910073
gnomAD v2: 6-10404956-G-A
gnomAD v4: 6-10404723-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.10404723G>A , CM000668.2:g.10404723G>A GRCh38
NC_000006.11:g.10404956G>A , CM000668.1:g.10404956G>A GRCh37
NC_000006.10:g.10512942G>A NCBI36
NG_016151.1:g.19842C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000379608.9:c.531C>T (TFAP2A) ENSP00000368928.3:p.Ser177=
ENST00000379613.10:c.555C>T (TFAP2A) MANE Select ENSP00000368933.5:p.Ser185=
ENST00000482890.6:c.555C>T (TFAP2A) ENSP00000418541.2:p.Ser185=
ENST00000488193.7:c.*46C>T (TFAP2A) ENSP00000419823.3:n.*46C>T
ENST00000498450.3:c.120C>T (TFAP2A) ENSP00000419961.3:p.Ser40=
ENST00000319516.8:c.537C>T (TFAP2A) ENSP00000316516.4:p.Ser179=
ENST00000379608.7:c.531C>T (TFAP2A) ENSP00000368928.3:p.Ser177=
ENST00000379613.7:c.555C>T (TFAP2A) ENSP00000368933.3:p.Ser185=
ENST00000466073.5:c.549C>T (TFAP2A) ENSP00000417495.1:p.Ser183=
ENST00000473652.1:n.603C>T (TFAP2A)
ENST00000475264.5:c.263C>T (TFAP2A)
ENST00000478375.5:n.549C>T (TFAP2A)
ENST00000482890.5:c.549C>T (TFAP2A) ENSP00000418541.1:p.Ser183=
ENST00000488193.5:c.*46C>T (TFAP2A) ENSP00000419823.1:n.*46C>T
ENST00000489805.5:c.*46C>T (TFAP2A) ENSP00000420568.1:n.*46C>T
ENST00000490875.5:n.791C>T (TFAP2A)
ENST00000497266.5:n.520C>T (TFAP2A)
ENST00000498450.1:c.120C>T (TFAP2A) ENSP00000419961.1:p.Ser40=
NM_001032280.2:c.531C>T (TFAP2A) NP_001027451.1:p.Ser177=
NM_001042425.1:c.537C>T (TFAP2A) NP_001035890.1:p.Ser179=
NM_003220.2:c.549C>T (TFAP2A) NP_003211.1:p.Ser183=
XM_006715175.2:c.684C>T (TFAP2A) XP_006715238.1:p.Ser228=
XM_011514833.1:c.399C>T (TFAP2A) XP_011513135.1:p.Ser133=
NR_145448.1:n.222G>A (TFAP2A-AS2)
XM_011514833.2:c.399C>T (TFAP2A) XP_011513135.1:p.Ser133=
XM_017011232.1:c.795C>T (TFAP2A) XP_016866721.1:p.Ser265=
NM_003220.3:c.549C>T (TFAP2A) NP_003211.1:p.Ser183=
NM_001032280.3:c.531C>T (TFAP2A) NP_001027451.1:p.Ser177=
NM_001042425.2:c.537C>T (TFAP2A) NP_001035890.1:p.Ser179=
NM_001372066.1:c.555C>T (TFAP2A) MANE Select NP_001358995.1:p.Ser185=
NM_001042425.3:c.537C>T (TFAP2A) NP_001035890.1:p.Ser179=