Canonical Allele Identifier: CA362701560
Gene: TFAP2A HGNC NCBI
TFAP2A-AS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 3068210
ClinVar RCV Id: RCV003991890

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.10404639G>C , CM000668.2:g.10404639G>C GRCh38
NC_000006.11:g.10404872G>C , CM000668.1:g.10404872G>C GRCh37
NC_000006.10:g.10512858G>C NCBI36
NG_016151.1:g.19926C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000379608.9:c.615C>G (TFAP2A) ENSP00000368928.3:p.Phe205Leu
ENST00000379613.10:c.639C>G (TFAP2A) MANE Select ENSP00000368933.5:p.Phe213Leu
ENST00000482890.6:c.639C>G (TFAP2A) ENSP00000418541.2:p.Phe213Leu
ENST00000488193.7:c.*130C>G (TFAP2A) ENSP00000419823.3:n.*130C>G
ENST00000498450.3:c.204C>G (TFAP2A) ENSP00000419961.3:p.Phe68Leu
ENST00000319516.8:c.621C>G (TFAP2A) ENSP00000316516.4:p.Phe207Leu
ENST00000379608.7:c.615C>G (TFAP2A) ENSP00000368928.3:p.Phe205Leu
ENST00000379613.7:c.639C>G (TFAP2A) ENSP00000368933.3:p.Phe213Leu
ENST00000466073.5:c.633C>G (TFAP2A) ENSP00000417495.1:p.Phe211Leu
ENST00000475264.5:c.347C>G (TFAP2A)
ENST00000478375.5:n.633C>G (TFAP2A)
ENST00000482890.5:c.633C>G (TFAP2A) ENSP00000418541.1:p.Phe211Leu
ENST00000488193.5:c.*130C>G (TFAP2A) ENSP00000419823.1:n.*130C>G
ENST00000489805.5:c.*130C>G (TFAP2A) ENSP00000420568.1:n.*130C>G
ENST00000490875.5:n.875C>G (TFAP2A)
ENST00000497266.5:n.604C>G (TFAP2A)
ENST00000498450.1:c.204C>G (TFAP2A) ENSP00000419961.1:p.Phe68Leu
NM_001032280.2:c.615C>G (TFAP2A) NP_001027451.1:p.Phe205Leu
NM_001042425.1:c.621C>G (TFAP2A) NP_001035890.1:p.Phe207Leu
NM_003220.2:c.633C>G (TFAP2A) NP_003211.1:p.Phe211Leu
XM_006715175.2:c.768C>G (TFAP2A) XP_006715238.1:p.Phe256Leu
XM_011514833.1:c.483C>G (TFAP2A) XP_011513135.1:p.Phe161Leu
NR_145448.1:n.138G>C (TFAP2A-AS2)
XM_011514833.2:c.483C>G (TFAP2A) XP_011513135.1:p.Phe161Leu
XM_017011232.1:c.879C>G (TFAP2A) XP_016866721.1:p.Phe293Leu
NM_003220.3:c.633C>G (TFAP2A) NP_003211.1:p.Phe211Leu
NM_001032280.3:c.615C>G (TFAP2A) NP_001027451.1:p.Phe205Leu
NM_001042425.2:c.621C>G (TFAP2A) NP_001035890.1:p.Phe207Leu
NM_001372066.1:c.639C>G (TFAP2A) MANE Select NP_001358995.1:p.Phe213Leu
NM_001042425.3:c.621C>G (TFAP2A) NP_001035890.1:p.Phe207Leu