Canonical Allele Identifier: CA362701196
Gene: TFAP2A HGNC NCBI
TFAP2A-AS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1679402
ClinVar RCV Id: RCV002226999
dbSNP Id: rs2114014223

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.10404539T>C , CM000668.2:g.10404539T>C GRCh38
NC_000006.11:g.10404772T>C , CM000668.1:g.10404772T>C GRCh37
NC_000006.10:g.10512758T>C NCBI36
NG_016151.1:g.20026A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000379608.9:c.715A>G (TFAP2A) ENSP00000368928.3:p.Asn239Asp
ENST00000379613.10:c.739A>G (TFAP2A) MANE Select ENSP00000368933.5:p.Asn247Asp
ENST00000482890.6:c.739A>G (TFAP2A) ENSP00000418541.2:p.Asn247Asp
ENST00000488193.7:c.*230A>G (TFAP2A) ENSP00000419823.3:n.*230A>G
ENST00000498450.3:c.304A>G (TFAP2A) ENSP00000419961.3:p.Asn102Asp
ENST00000319516.8:c.721A>G (TFAP2A) ENSP00000316516.4:p.Asn241Asp
ENST00000379608.7:c.715A>G (TFAP2A) ENSP00000368928.3:p.Asn239Asp
ENST00000379613.7:c.739A>G (TFAP2A) ENSP00000368933.3:p.Asn247Asp
ENST00000461628.5:c.56A>G (TFAP2A)
ENST00000466073.5:c.733A>G (TFAP2A) ENSP00000417495.1:p.Asn245Asp
ENST00000475264.5:c.447A>G (TFAP2A)
ENST00000478375.5:n.733A>G (TFAP2A)
ENST00000482890.5:c.733A>G (TFAP2A) ENSP00000418541.1:p.Asn245Asp
ENST00000488193.5:c.*230A>G (TFAP2A) ENSP00000419823.1:n.*230A>G
ENST00000489805.5:c.*230A>G (TFAP2A) ENSP00000420568.1:n.*230A>G
ENST00000497266.5:n.704A>G (TFAP2A)
ENST00000498450.1:c.304A>G (TFAP2A) ENSP00000419961.1:p.Asn102Asp
NM_001032280.2:c.715A>G (TFAP2A) NP_001027451.1:p.Asn239Asp
NM_001042425.1:c.721A>G (TFAP2A) NP_001035890.1:p.Asn241Asp
NM_003220.2:c.733A>G (TFAP2A) NP_003211.1:p.Asn245Asp
XM_006715175.2:c.868A>G (TFAP2A) XP_006715238.1:p.Asn290Asp
XM_011514833.1:c.583A>G (TFAP2A) XP_011513135.1:p.Asn195Asp
NR_145448.1:n.38T>C (TFAP2A-AS2)
XM_011514833.2:c.583A>G (TFAP2A) XP_011513135.1:p.Asn195Asp
XM_017011232.1:c.979A>G (TFAP2A) XP_016866721.1:p.Asn327Asp
NM_003220.3:c.733A>G (TFAP2A) NP_003211.1:p.Asn245Asp
NM_001032280.3:c.715A>G (TFAP2A) NP_001027451.1:p.Asn239Asp
NM_001042425.2:c.721A>G (TFAP2A) NP_001035890.1:p.Asn241Asp
NM_001372066.1:c.739A>G (TFAP2A) MANE Select NP_001358995.1:p.Asn247Asp
NM_001042425.3:c.721A>G (TFAP2A) NP_001035890.1:p.Asn241Asp