Canonical Allele Identifier: CA565486784
Gene: TFAP2A HGNC NCBI
TFAP2A-AS2 HGNC NCBI

Linked Data

dbSNP Id: rs1390369681
gnomAD v2: 6-10404989-G-A
gnomAD v4: 6-10404756-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.10404756G>A , CM000668.2:g.10404756G>A GRCh38
NC_000006.11:g.10404989G>A , CM000668.1:g.10404989G>A GRCh37
NC_000006.10:g.10512975G>A NCBI36
NG_016151.1:g.19809C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000379608.9:c.515-17C>T (TFAP2A) ENSP00000368928.3:n.515-17C>T
ENST00000379613.10:c.539-17C>T (TFAP2A) MANE Select ENSP00000368933.5:n.539-17C>T
ENST00000482890.6:c.539-17C>T (TFAP2A) ENSP00000418541.2:n.539-17C>T
ENST00000488193.7:c.*30-17C>T (TFAP2A) ENSP00000419823.3:n.*30-17C>T
ENST00000498450.3:c.104-17C>T (TFAP2A) ENSP00000419961.3:n.104-17C>T
ENST00000319516.8:c.521-17C>T (TFAP2A) ENSP00000316516.4:n.521-17C>T
ENST00000379608.7:c.515-17C>T (TFAP2A) ENSP00000368928.3:n.515-17C>T
ENST00000379613.7:c.539-17C>T (TFAP2A) ENSP00000368933.3:n.539-17C>T
ENST00000466073.5:c.533-17C>T (TFAP2A) ENSP00000417495.1:n.533-17C>T
ENST00000473652.1:n.587-17C>T (TFAP2A)
ENST00000475264.5:c.247-17C>T (TFAP2A)
ENST00000478375.5:n.533-17C>T (TFAP2A)
ENST00000482890.5:c.533-17C>T (TFAP2A) ENSP00000418541.1:n.533-17C>T
ENST00000488193.5:c.*30-17C>T (TFAP2A) ENSP00000419823.1:n.*30-17C>T
ENST00000489805.5:c.*30-17C>T (TFAP2A) ENSP00000420568.1:n.*30-17C>T
ENST00000490875.5:n.775-17C>T (TFAP2A)
ENST00000497266.5:n.504-17C>T (TFAP2A)
ENST00000498450.1:c.104-17C>T (TFAP2A) ENSP00000419961.1:n.104-17C>T
NM_001032280.2:c.515-17C>T (TFAP2A) NP_001027451.1:n.515-17C>T
NM_001042425.1:c.521-17C>T (TFAP2A) NP_001035890.1:n.521-17C>T
NM_003220.2:c.533-17C>T (TFAP2A) NP_003211.1:n.533-17C>T
XM_006715175.2:c.668-17C>T (TFAP2A) XP_006715238.1:n.668-17C>T
XM_011514833.1:c.383-17C>T (TFAP2A) XP_011513135.1:n.383-17C>T
NR_145448.1:n.255G>A (TFAP2A-AS2)
XM_011514833.2:c.383-17C>T (TFAP2A) XP_011513135.1:n.383-17C>T
XM_017011232.1:c.779-17C>T (TFAP2A) XP_016866721.1:n.779-17C>T
NM_003220.3:c.533-17C>T (TFAP2A) NP_003211.1:n.533-17C>T
NM_001032280.3:c.515-17C>T (TFAP2A) NP_001027451.1:n.515-17C>T
NM_001042425.2:c.521-17C>T (TFAP2A) NP_001035890.1:n.521-17C>T
NM_001372066.1:c.539-17C>T (TFAP2A) MANE Select NP_001358995.1:n.539-17C>T
NM_001042425.3:c.521-17C>T (TFAP2A) NP_001035890.1:n.521-17C>T