Canonical Allele Identifier: CA134048998
Gene: TFAP2A HGNC NCBI
TFAP2A-AS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 547802
dbSNP Id: rs151344528

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.10404512G>A , CM000668.2:g.10404512G>A GRCh38
NC_000006.11:g.10404745G>A , CM000668.1:g.10404745G>A GRCh37
NC_000006.10:g.10512731G>A NCBI36
NG_016151.1:g.20053C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000379608.9:c.742C>T (TFAP2A) ENSP00000368928.3:p.Arg248Trp
ENST00000379613.10:c.766C>T (TFAP2A) MANE Select ENSP00000368933.5:p.Arg256Trp
ENST00000482890.6:c.766C>T (TFAP2A) ENSP00000418541.2:p.Arg256Trp
ENST00000488193.7:c.*257C>T (TFAP2A) ENSP00000419823.3:n.*257C>T
ENST00000498450.3:c.331C>T (TFAP2A) ENSP00000419961.3:p.Arg111Trp
ENST00000319516.8:c.748C>T (TFAP2A) ENSP00000316516.4:p.Arg250Trp
ENST00000379608.7:c.742C>T (TFAP2A) ENSP00000368928.3:p.Arg248Trp
ENST00000379613.7:c.766C>T (TFAP2A) ENSP00000368933.3:p.Arg256Trp
ENST00000461628.5:c.83C>T (TFAP2A)
ENST00000466073.5:c.760C>T (TFAP2A) ENSP00000417495.1:p.Arg254Trp
ENST00000475264.5:c.474C>T (TFAP2A)
ENST00000478375.5:n.760C>T (TFAP2A)
ENST00000482890.5:c.760C>T (TFAP2A) ENSP00000418541.1:p.Arg254Trp
ENST00000488193.5:c.*257C>T (TFAP2A) ENSP00000419823.1:n.*257C>T
ENST00000489805.5:c.*257C>T (TFAP2A) ENSP00000420568.1:n.*257C>T
ENST00000497266.5:n.731C>T (TFAP2A)
ENST00000498450.1:c.331C>T (TFAP2A) ENSP00000419961.1:p.Arg111Trp
NM_001032280.2:c.742C>T (TFAP2A) NP_001027451.1:p.Arg248Trp
NM_001042425.1:c.748C>T (TFAP2A) NP_001035890.1:p.Arg250Trp
NM_003220.2:c.760C>T (TFAP2A) NP_003211.1:p.Arg254Trp
XM_006715175.2:c.895C>T (TFAP2A) XP_006715238.1:p.Arg299Trp
XM_011514833.1:c.610C>T (TFAP2A) XP_011513135.1:p.Arg204Trp
NR_145448.1:n.11G>A (TFAP2A-AS2)
XM_011514833.2:c.610C>T (TFAP2A) XP_011513135.1:p.Arg204Trp
XM_017011232.1:c.1006C>T (TFAP2A) XP_016866721.1:p.Arg336Trp
NM_003220.3:c.760C>T (TFAP2A) NP_003211.1:p.Arg254Trp
NM_001032280.3:c.742C>T (TFAP2A) NP_001027451.1:p.Arg248Trp
NM_001042425.2:c.748C>T (TFAP2A) NP_001035890.1:p.Arg250Trp
NM_001372066.1:c.766C>T (TFAP2A) MANE Select NP_001358995.1:p.Arg256Trp
NM_001042425.3:c.748C>T (TFAP2A) NP_001035890.1:p.Arg250Trp