Canonical Allele Identifier: CA448717452
Gene: TFAP2A HGNC NCBI
TFAP2A-AS2 HGNC NCBI

Linked Data

dbSNP Id: rs1438168312
gnomAD v2: 6-10404755-G-C
gnomAD v4: 6-10404522-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.10404522G>C , CM000668.2:g.10404522G>C GRCh38
NC_000006.11:g.10404755G>C , CM000668.1:g.10404755G>C GRCh37
NC_000006.10:g.10512741G>C NCBI36
NG_016151.1:g.20043C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000379608.9:c.732C>G (TFAP2A) ENSP00000368928.3:p.Gly244=
ENST00000379613.10:c.756C>G (TFAP2A) MANE Select ENSP00000368933.5:p.Gly252=
ENST00000482890.6:c.756C>G (TFAP2A) ENSP00000418541.2:p.Gly252=
ENST00000488193.7:c.*247C>G (TFAP2A) ENSP00000419823.3:n.*247C>G
ENST00000498450.3:c.321C>G (TFAP2A) ENSP00000419961.3:p.Gly107=
ENST00000319516.8:c.738C>G (TFAP2A) ENSP00000316516.4:p.Gly246=
ENST00000379608.7:c.732C>G (TFAP2A) ENSP00000368928.3:p.Gly244=
ENST00000379613.7:c.756C>G (TFAP2A) ENSP00000368933.3:p.Gly252=
ENST00000461628.5:c.73C>G (TFAP2A)
ENST00000466073.5:c.750C>G (TFAP2A) ENSP00000417495.1:p.Gly250=
ENST00000475264.5:c.464C>G (TFAP2A)
ENST00000478375.5:n.750C>G (TFAP2A)
ENST00000482890.5:c.750C>G (TFAP2A) ENSP00000418541.1:p.Gly250=
ENST00000488193.5:c.*247C>G (TFAP2A) ENSP00000419823.1:n.*247C>G
ENST00000489805.5:c.*247C>G (TFAP2A) ENSP00000420568.1:n.*247C>G
ENST00000497266.5:n.721C>G (TFAP2A)
ENST00000498450.1:c.321C>G (TFAP2A) ENSP00000419961.1:p.Gly107=
NM_001032280.2:c.732C>G (TFAP2A) NP_001027451.1:p.Gly244=
NM_001042425.1:c.738C>G (TFAP2A) NP_001035890.1:p.Gly246=
NM_003220.2:c.750C>G (TFAP2A) NP_003211.1:p.Gly250=
XM_006715175.2:c.885C>G (TFAP2A) XP_006715238.1:p.Gly295=
XM_011514833.1:c.600C>G (TFAP2A) XP_011513135.1:p.Gly200=
NR_145448.1:n.21G>C (TFAP2A-AS2)
XM_011514833.2:c.600C>G (TFAP2A) XP_011513135.1:p.Gly200=
XM_017011232.1:c.996C>G (TFAP2A) XP_016866721.1:p.Gly332=
NM_003220.3:c.750C>G (TFAP2A) NP_003211.1:p.Gly250=
NM_001032280.3:c.732C>G (TFAP2A) NP_001027451.1:p.Gly244=
NM_001042425.2:c.738C>G (TFAP2A) NP_001035890.1:p.Gly246=
NM_001372066.1:c.756C>G (TFAP2A) MANE Select NP_001358995.1:p.Gly252=
NM_001042425.3:c.738C>G (TFAP2A) NP_001035890.1:p.Gly246=