Canonical Allele Identifier: CA362701166
Gene: TFAP2A HGNC NCBI
TFAP2A-AS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2437050
ClinVar RCV Id: RCV003140970
gnomAD v4: 6-10404524-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.10404524C>A , CM000668.2:g.10404524C>A GRCh38
NC_000006.11:g.10404757C>A , CM000668.1:g.10404757C>A GRCh37
NC_000006.10:g.10512743C>A NCBI36
NG_016151.1:g.20041G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000379608.9:c.730G>T (TFAP2A) ENSP00000368928.3:p.Gly244Cys
ENST00000379613.10:c.754G>T (TFAP2A) MANE Select ENSP00000368933.5:p.Gly252Cys
ENST00000482890.6:c.754G>T (TFAP2A) ENSP00000418541.2:p.Gly252Cys
ENST00000488193.7:c.*245G>T (TFAP2A) ENSP00000419823.3:n.*245G>T
ENST00000498450.3:c.319G>T (TFAP2A) ENSP00000419961.3:p.Gly107Cys
ENST00000319516.8:c.736G>T (TFAP2A) ENSP00000316516.4:p.Gly246Cys
ENST00000379608.7:c.730G>T (TFAP2A) ENSP00000368928.3:p.Gly244Cys
ENST00000379613.7:c.754G>T (TFAP2A) ENSP00000368933.3:p.Gly252Cys
ENST00000461628.5:c.71G>T (TFAP2A)
ENST00000466073.5:c.748G>T (TFAP2A) ENSP00000417495.1:p.Gly250Cys
ENST00000475264.5:c.462G>T (TFAP2A)
ENST00000478375.5:n.748G>T (TFAP2A)
ENST00000482890.5:c.748G>T (TFAP2A) ENSP00000418541.1:p.Gly250Cys
ENST00000488193.5:c.*245G>T (TFAP2A) ENSP00000419823.1:n.*245G>T
ENST00000489805.5:c.*245G>T (TFAP2A) ENSP00000420568.1:n.*245G>T
ENST00000497266.5:n.719G>T (TFAP2A)
ENST00000498450.1:c.319G>T (TFAP2A) ENSP00000419961.1:p.Gly107Cys
NM_001032280.2:c.730G>T (TFAP2A) NP_001027451.1:p.Gly244Cys
NM_001042425.1:c.736G>T (TFAP2A) NP_001035890.1:p.Gly246Cys
NM_003220.2:c.748G>T (TFAP2A) NP_003211.1:p.Gly250Cys
XM_006715175.2:c.883G>T (TFAP2A) XP_006715238.1:p.Gly295Cys
XM_011514833.1:c.598G>T (TFAP2A) XP_011513135.1:p.Gly200Cys
NR_145448.1:n.23C>A (TFAP2A-AS2)
XM_011514833.2:c.598G>T (TFAP2A) XP_011513135.1:p.Gly200Cys
XM_017011232.1:c.994G>T (TFAP2A) XP_016866721.1:p.Gly332Cys
NM_003220.3:c.748G>T (TFAP2A) NP_003211.1:p.Gly250Cys
NM_001032280.3:c.730G>T (TFAP2A) NP_001027451.1:p.Gly244Cys
NM_001042425.2:c.736G>T (TFAP2A) NP_001035890.1:p.Gly246Cys
NM_001372066.1:c.754G>T (TFAP2A) MANE Select NP_001358995.1:p.Gly252Cys
NM_001042425.3:c.736G>T (TFAP2A) NP_001035890.1:p.Gly246Cys