transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha) (TFAP2A) - coding DNA reference sequence

(used for variant description)

(last modified June 30, 2014)

This file was created to facilitate the description of sequence variants on transcript NM_003220.2 in the TFAP2A gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_016151.1, covering TFAP2A transcript NM_003220.2.

Please note that introns are available by clicking on the exon numbers above the sequence.

 (upstream sequence)
                                                   .                g.9339
                                                 acgggagctctt       c.-241

 .         .         .         .         .         .                g.9399
 tcccttctctcctcctcctcgcccttctcctcgccctcctcctcctcctcgccctcctct       c.-181

 .         .         .         .         .         .                g.9459
 tcctcctcctcctccttgccctcctcctctccctcctccttctcctcctccacctcctct       c.-121

 .         .         .         .         .         .                g.9519
 ccctcctcctcctcctcctgcgctcaccgccggcagccagcactttgcgctcacccagag       c.-61

 .         .         .         .         .         .                g.9579
 agtagctccacttgggtgcgagaccgagaggggcatatccgttcacgccgatccatgaaa       c.-1

          .         .         .         .      | 02  .         .    g.14244
 ATGCTTTGGAAATTGACGGATAATATCAAGTACGAGGACTGCGAG | GACCGTCACGACGGC    c.60
 M  L  W  K  L  T  D  N  I  K  Y  E  D  C  E   | D  R  H  D  G      p.20

          .         .         .         .         .         .       g.14304
 ACCAGCAACGGGACGGCACGGTTGCCCCAGCTGGGCACTGTAGGTCAATCTCCCTACACG       c.120
 T  S  N  G  T  A  R  L  P  Q  L  G  T  V  G  Q  S  P  Y  T         p.40

          .         .         .         .         .         .       g.14364
 AGCGCCCCGCCGCTGTCCCACACCCCCAATGCCGACTTCCAGCCCCCATACTTCCCCCCA       c.180
 S  A  P  P  L  S  H  T  P  N  A  D  F  Q  P  P  Y  F  P  P         p.60

          .         .         .         .         .         .       g.14424
 CCCTACCAGCCTATCTACCCCCAGTCGCAAGATCCTTACTCCCACGTCAACGACCCCTAC       c.240
 P  Y  Q  P  I  Y  P  Q  S  Q  D  P  Y  S  H  V  N  D  P  Y         p.80

          .         .         .         .         .         .       g.14484
 AGCCTGAACCCCCTGCACGCCCAGCCGCAGCCGCAGCACCCAGGCTGGCCCGGCCAGAGG       c.300
 S  L  N  P  L  H  A  Q  P  Q  P  Q  H  P  G  W  P  G  Q  R         p.100

          .         .         .         .         .         .       g.14544
 CAGAGCCAGGAGTCTGGGCTCCTGCACACGCACCGGGGGCTGCCTCACCAGCTGTCGGGC       c.360
 Q  S  Q  E  S  G  L  L  H  T  H  R  G  L  P  H  Q  L  S  G         p.120

          .         .         .         .         .         .       g.14604
 CTGGATCCTCGCAGGGACTACAGGCGGCACGAGGACCTCCTGCACGGCCCACACGCGCTC       c.420
 L  D  P  R  R  D  Y  R  R  H  E  D  L  L  H  G  P  H  A  L         p.140

          .         .         .         .         .         .       g.14664
 AGCTCAGGACTCGGAGACCTCTCGATCCACTCCTTACCTCACGCCATCGAGGAGGTCCCG       c.480
 S  S  G  L  G  D  L  S  I  H  S  L  P  H  A  I  E  E  V  P         p.160

  | 03       .         .         .         .         .   | 04     . g.19833
  | CATGTAGAAGACCCGGGTATTAACATCCCAGATCAAACTGTAATTAAGAAAG | GCCCCGTG c.540
  | H  V  E  D  P  G  I  N  I  P  D  Q  T  V  I  K  K  G |   P  V   p.180

          .         .         .         .         .         .       g.19893
 TCCCTGTCCAAGTCCAACAGCAATGCCGTCTCCGCCATCCCTATTAACAAGGACAACCTC       c.600
 S  L  S  K  S  N  S  N  A  V  S  A  I  P  I  N  K  D  N  L         p.200

          .         .         .         .         .         .       g.19953
 TTCGGCGGCGTGGTGAACCCCAACGAAGTCTTCTGTTCAGTTCCGGGTCGCCTCTCGCTC       c.660
 F  G  G  V  V  N  P  N  E  V  F  C  S  V  P  G  R  L  S  L         p.220

          .         .         .         .         .         .       g.20013
 CTCAGCTCCACCTCGAAGTACAAGGTCACGGTGGCGGAAGTGCAGCGGCGGCTCTCACCA       c.720
 L  S  S  T  S  K  Y  K  V  T  V  A  E  V  Q  R  R  L  S  P         p.240

          .         .         .         .     | 05   .         .    g.21970
 CCCGAGTGTCTCAACGCGTCGCTGCTGGGCGGAGTGCTCCGGAG | GGCGAAGTCTAAAAAT    c.780
 P  E  C  L  N  A  S  L  L  G  G  V  L  R  R  |  A  K  S  K  N      p.260

          .         .         .         .         .         .       g.22030
 GGAGGAAGATCTTTAAGAGAAAAACTGGACAAAATAGGATTAAATCTGCCTGCAGGGAGA       c.840
 G  G  R  S  L  R  E  K  L  D  K  I  G  L  N  L  P  A  G  R         p.280

          .         .         .         .    | 06    .         .    g.23992
 CGTAAAGCTGCCAACGTTACCCTGCTCACATCACTAGTAGAGG | GAGAAGCTGTCCACCTA    c.900
 R  K  A  A  N  V  T  L  L  T  S  L  V  E  G |   E  A  V  H  L      p.300

          .         .         .         .         .         .       g.24052
 GCCAGGGACTTTGGGTACGTGTGCGAAACCGAATTTCCTGCCAAAGCAGTAGCTGAATTT       c.960
 A  R  D  F  G  Y  V  C  E  T  E  F  P  A  K  A  V  A  E  F         p.320

          .         .         .         .         .         .       g.24112
 CTCAACCGACAACATTCCGATCCCAATGAGCAAGTGACAAGAAAAAACATGCTCCTGGCT       c.1020
 L  N  R  Q  H  S  D  P  N  E  Q  V  T  R  K  N  M  L  L  A         p.340

       | 07  .         .         .         .         .         .    g.25914
 ACAAA | ACAGATATGCAAAGAGTTCACCGACCTGCTGGCTCAGGACCGATCTCCCCTGGGG    c.1080
 T  K  |  Q  I  C  K  E  F  T  D  L  L  A  Q  D  R  S  P  L  G      p.360

          .         .         .         .         .         .       g.25974
 AACTCACGGCCCAACCCCATCCTGGAGCCCGGCATCCAGAGCTGCTTGACCCACTTCAAC       c.1140
 N  S  R  P  N  P  I  L  E  P  G  I  Q  S  C  L  T  H  F  N         p.380

          .         .         .         .         .         .       g.26034
 CTCATCTCCCACGGCTTCGGCAGCCCCGCGGTGTGTGCCGCGGTCACGGCCCTGCAGAAC       c.1200
 L  I  S  H  G  F  G  S  P  A  V  C  A  A  V  T  A  L  Q  N         p.400

          .         .         .         .         .         .       g.26094
 TATCTCACCGAGGCCCTCAAGGCCATGGACAAAATGTACCTCAGCAACAACCCCAACAGC       c.1260
 Y  L  T  E  A  L  K  A  M  D  K  M  Y  L  S  N  N  P  N  S         p.420

          .         .         .         .         .                 g.26148
 CACACGGACAACAACGCCAAAAGCAGTGACAAAGAGGAGAAGCACAGAAAGTGA             c.1314
 H  T  D  N  N  A  K  S  S  D  K  E  E  K  H  R  K  X               p.437

          .         .         .         .         .         .       g.26208
 ggctctcctcccgccccgcccctcccacgcctcaccagccccccgcgcgcccaccctccg       c.*60

          .         .         .         .         .         .       g.26268
 gcgggtgacagctccgggatcagcaacccttcctgctgctgctactgctgctgctgctgc       c.*120

          .         .         .         .         .         .       g.26328
 cgccgccgccgccgccgctgcccttgggtccccccgagtctccgggactgccctctcgac       c.*180

          .         .         .         .         .         .       g.26388
 tgtcagtggggcagcctctccgactctgcacccgcctcgacctccccacccgctcccaca       c.*240

          .         .         .         .         .         .       g.26448
 cccctgtgccctcatgtggagcctaagagaacagaacaggccgtgaagccagcagagaaa       c.*300

          .         .         .         .         .         .       g.26508
 agttctgccaagtttgtgaacccttttttttttaaacaaaacaacaaatcaacaacagca       c.*360

          .         .         .         .         .         .       g.26568
 acaacaacaacaaaaattaaaaacttttttctaaaaaaaaagtgaaaataaaaaaaatta       c.*420

          .         .         .         .         .         .       g.26628
 tatgcgcttcatgggactgagtcaccaccttcccttacatacttcagttcagattgtagc       c.*480

          .         .         .         .         .         .       g.26688
 catacttaaaaaaaaaaaaaaagccaaaagatgatgacaacatttttatcagtattgtga       c.*540

          .         .         .         .         .         .       g.26748
 ataaacttgaacacaaatacacgaagttccatgtcatgtcttcagttgtagaagtttttc       c.*600

          .         .         .         .         .         .       g.26808
 ctctttaaggtaaagcgaccaacttgaactttctctggcaacacgattcgcagttatata       c.*660

          .         .         .         .         .         .       g.26868
 agggaatcagtgttcacgtctctgtatatatttatttatgtgtaatttaatgggaattgt       c.*720

          .         .         .         .         .         .       g.26928
 aaatatggtgagtctgttttaagcctttttttttttatttatctgatcttgtttacctct       c.*780

          .         .         .         .         .         .       g.26988
 tgtttagtgggttttgaatcttccctattagttcttcatgtggttcatggtactgattta       c.*840

          .         .         .         .         .         .       g.27048
 gaaatccagtgtttgggggatttttttctctgggattcatgaatttagccctgttgtagc       c.*900

          .         .         .         .         .         .       g.27108
 atgttaaaggtgacaaacagctggacaaatttttaaaaagtaaaataaaattttatctat       c.*960

          .         .         .         .         .         .       g.27168
 aattagtattattacatttagcttttcattgaaccgaaagaaaaaaagtgatattggacc       c.*1020

          .         .         .         .         .         .       g.27228
 ctggaaagattttgaaacttgagtggtttgataacccttctatgtattgtagggagaaaa       c.*1080

          .         .         .         .         .         .       g.27288
 aaaaaagtttattttattccactgtcctcccttaaaagcatcatttgagcaataaatgaa       c.*1140

          .         .         .         .         .         .       g.27348
 tattgtctttaaaccaagggttagggaattttcctctctctctctctctcctctctcttt       c.*1200

          .         .         .         .         .         .       g.27408
 ctgttcaaagaacttcaaacatttgggaccacctggtattctgtattttcactggccata       c.*1260

          .         .         .         .         .         .       g.27468
 ttggaagcagttctagttgcattgtattgagttgtgctggcagtagtttccatgcctgtc       c.*1320

          .         .         .         .         .         .       g.27528
 aatgtatcatagtcctttgttgcccagataaataaatatttgatacgctttatgtcgatt       c.*1380

          .         .         .         .         .         .       g.27588
 tttttttattcagtggctgtctttacccaggcgtatttttgttcttggcagtatttttta       c.*1440

          .         .         .         .         .         .       g.27648
 ttcagtatggttacagtaattgagtttaactctcccttggcaattgctccttgcaataag       c.*1500

          .         .         .         .         .         .       g.27708
 cagctgaacccattgtttccctcaagtataataaaaacttactttcaacttggagttcag       c.*1560

          .         .         .         .         .         .       g.27768
 agcagggtatcatttagatattccactgtgtctgtattcagacaaatgacacaataaaac       c.*1620

          .         .         .         .         .         .       g.27828
 ccaatgtattcttttggataaaagattgtttgtactgctaaaggaatgacatactgtctt       c.*1680

          .         .         .         .         .                 g.27882
 ttccttactagaaacattaattttattattaaaaataaagttttattttattta             c.*1734

 (downstream sequence)

Legend:
Nucleotide numbering (following the rules of the HGVS for a 'Coding DNA Reference Sequence') is indicated at the right of the sequence, counting the A of the ATG translation initiating Methionine as 1. Every 10^th nucleotide is indicated by a "." above the sequence. The Transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha) protein sequence is shown below the coding DNA sequence, with numbering indicated at the right starting with 1 for the translation initiating Methionine. Every 10^th amino acid is shown in bold. The position of introns is indicated by a vertical line, splitting the two exons. The start of the first exon (transcription initiation site) is indicated by a '\', the end of the last exon (poly-A addition site) by a '/'. The exon number is indicated above the first nucleotide(s) of the exon. To aid the description of frame shift variants, all stop codons in the +1 frame are shown in bold while all stop codons in the +2 frame are underlined.