high mobility group AT-hook 2 (HMGA2) - coding DNA reference sequence

(used for variant description)

(last modified August 14, 2017)

This file was created to facilitate the description of sequence variants on transcript NM_003483.4 in the HMGA2 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_016296.1, covering HMGA2 transcript NM_003483.4.

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

 (upstream sequence)
                               .         .         .                g.5031
                              cttgaatcttggggcaggaactcagaaaact       c.-781

 .         .         .         .         .         .                g.5091
 tccagcccgggcagcgcgcgcttggtgcaagactcaggagctagcagcccgtccccctcc       c.-721

 .         .         .         .         .         .                g.5151
 gactctccggtgccgccgctgcctgctcccgccaccctaggaggcgcggtgccacccact       c.-661

 .         .         .         .         .         .                g.5211
 actctgtcctctgcctgtgctccgtgcccgaccctatcccggcggagtctccccatcctc       c.-601

 .         .         .         .         .         .                g.5271
 ctttgctttccgactgcccaaggcactttcaatctcaatctcttctctctctctctctct       c.-541

 .         .         .         .         .         .                g.5331
 ctctctctctctctctctctctctctctctctctctctcgcagggtggggggaagaggag       c.-481

 .         .         .         .         .         .                g.5391
 gaggaattctttccccgcctaacatttcaagggacacaattcactccaagtctcttccct       c.-421

 .         .         .         .         .         .                g.5451
 ttccaagccgcttccgaagtgctcccggtgcccgcaactcctgatcccaacccgcgagag       c.-361

 .         .         .         .         .         .                g.5511
 gagcctctgcgacctcaaagcctctcttccttctccctcgcttccctcctcctcttgcta       c.-301

 .         .         .         .         .         .                g.5571
 cctccacctccaccgccacctccacctccggcacccacccaccgccgccgccgccaccgg       c.-241

 .         .         .         .         .         .                g.5631
 cagcgcctcctcctctcctcctcctcctcccctcttctctttttggcagccgctggacgt       c.-181

 .         .         .         .         .         .                g.5691
 ccggtgttgatggtggcagcggcggcagcctaagcaacagcagccctcgcagcccgccag       c.-121

 .         .         .         .         .         .                g.5751
 ctcgcgctcgccccgccggcgtccccagccctatcacctcatctcccgaaaggtgctggg       c.-61

 .         .         .         .         .         .                g.5811
 cagctccggggcggtcgaggcgaagcggctgcagcggcggtagcggcggcgggaggcagg       c.-1

          .         .         .         .         .         .       g.5871
 ATGAGCGCACGCGGTGAGGGCGCGGGGCAGCCGTCCACTTCAGCCCAGGGACAACCTGCC       c.60
 M  S  A  R  G  E  G  A  G  Q  P  S  T  S  A  Q  G  Q  P  A         p.20

          .         .         .         .         .  | 02      .    g.8550
 GCCCCAGCGCCTCAGAAGAGAGGACGCGGCCGCCCCAGGAAGCAGCAGCAA | GAACCAACC    c.120
 A  P  A  P  Q  K  R  G  R  G  R  P  R  K  Q  Q  Q   | E  P  T      p.40

          .         .         .         .         .         .       g.8610
 GGTGAGCCCTCTCCTAAGAGACCCAGGGGAAGACCCAAAGGCAGCAAAAACAAGAGTCCC       c.180
 G  E  P  S  P  K  R  P  R  G  R  P  K  G  S  K  N  K  S  P         p.60

          .         | 03         .         .         .         .    g.19101
 TCTAAAGCAGCTCAAAAG | AAAGCAGAAGCCACTGGAGAAAAACGGCCAAGAGGCAGACCT    c.240
 S  K  A  A  Q  K   | K  A  E  A  T  G  E  K  R  P  R  G  R  P      p.80

           | 04        .         .         .   | 05     .         . g.143803
 AGGAAATGG | CCACAACAAGTTGTTCAGAAGAAGCCTGCTCAG | GAGGAAACTGAAGAGACA c.300
 R  K  W   | P  Q  Q  V  V  Q  K  K  P  A  Q   | E  E  T  E  E  T   p.100

          .         .         .                                     g.143833
 TCCTCACAAGAGTCTGCCGAAGAGGACTAG                                     c.330
 S  S  Q  E  S  A  E  E  D  X                                       p.109

          .         .         .         .         .         .       g.143893
 ggggcgccaacgttcgatttctacctcagcagcagttggatcttttgaagggagaagaca       c.*60

          .         .         .         .         .         .       g.143953
 ctgcagtgaccacttattctgtattgccatggtctttccactttcatctggggtggggtg       c.*120

          .         .         .         .         .         .       g.144013
 gggtggggtgggggaggggggggtggggtggggagaaatcacataaccttaaaaaggact       c.*180

          .         .         .         .         .         .       g.144073
 atattaatcaccttctttgtaatcccttcacagtcccaggtttagtgaaaaactgctgta       c.*240

          .         .         .         .         .         .       g.144133
 aacacaggggacacagcttaacaatgcaacttttaattactgttttcttttttcttaacc       c.*300

          .         .         .         .         .         .       g.144193
 tactaatagtttgttgatctgataagcaagagtgggcgggtgagaaaaaccgaattgggt       c.*360

          .         .         .         .         .         .       g.144253
 ttagtcaatcactgcactgcatgcaaacaagaaacgtgtcacacttgtgacgtcgggcat       c.*420

          .         .         .         .         .         .       g.144313
 tcatataggaagaacgcggtgtgtaacactgtgtacacctcaaataccaccccaacccac       c.*480

          .         .         .         .         .         .       g.144373
 tccctgtagtgaatcctctgtttagaacaccaaagataaggactagatactactttctct       c.*540

          .         .         .         .         .         .       g.144433
 ttttcgtataatcttgtagacacttacttgatgatttttaactttttatttctaaatgag       c.*600

          .         .         .         .         .         .       g.144493
 acgaaatgctgatgtatcctttcattcagctaacaaactagaaaaggttatgttcatttt       c.*660

          .         .         .         .         .         .       g.144553
 tcaaaaagggaagtaagcaaacaaatattgccaactcttctatttatggatatcacacat       c.*720

          .         .         .         .         .         .       g.144613
 atcagcaggagtaataaatttactcacagcacttgttttcaggacaacacttcattttca       c.*780

          .         .         .         .         .         .       g.144673
 ggaaatctacttcctacagagccaaaatgccatttagcaataaataacacttgtcagcct       c.*840

          .         .         .         .         .         .       g.144733
 cagagcatttaaggaaactagacaagtaaaattatcctctttgtaatttaatgaaaaggt       c.*900

          .         .         .         .         .         .       g.144793
 acaacagaataatgcatgatgaactcacctaattatgaggtgggaggagcgaaatctaaa       c.*960

          .         .         .         .         .         .       g.144853
 tttcttttgctatagttatacatcaatttaaaaagcaaaaaaaaaaaaggggggggcaat       c.*1020

          .         .         .         .         .         .       g.144913
 ctctctctgtgtctttctctctctctcttcctctccctctctcttttcattgtgtatcag       c.*1080

          .         .         .         .         .         .       g.144973
 tttccatgaaagacctgaataccacttacctcaaattaagcatatgtgttacttcaagta       c.*1140

          .         .         .         .         .         .       g.145033
 atacgttttgacataagatggttgaccaaggtgcttttcttcggcttgagttcaccatct       c.*1200

          .         .         .         .         .         .       g.145093
 cttcattcaaactgcacttttagccagagatgcaatatatccccactactcaatactacc       c.*1260

          .         .         .         .         .         .       g.145153
 tctgaatgttacaacgaatttacagtctagtacttattacatgctgctatacacaagcaa       c.*1320

          .         .         .         .         .         .       g.145213
 tgcaagaaaaaaacttactgggtaggtgattctaatcatctgcagttctttttgtacact       c.*1380

          .         .         .         .         .         .       g.145273
 taattacagttaaagaagcaatctccttactgtgtttcagcatgactatgtatttttcta       c.*1440

          .         .         .         .         .         .       g.145333
 tgtttttttaattaaaaatttttaaaatacttgtttcagcttctctgctagatttctaca       c.*1500

          .         .         .         .         .         .       g.145393
 ttaacttgaaaattttttaaccaagtcgctcctaggttcttaaggataattttcctcaat       c.*1560

          .         .         .         .         .         .       g.145453
 cacactacacatcacacaagatttgactgtaatatttaaatattaccctccaagtctgta       c.*1620

          .         .         .         .         .         .       g.145513
 cctcaaatgaattctttaaggagatggactaattgacttgcaaagacctacctccagact       c.*1680

          .         .         .         .         .         .       g.145573
 tcaaaaggaatgaacttgttacttgcagcattcatttgttttttcaatgtttgaaatagt       c.*1740

          .         .         .         .         .         .       g.145633
 tcaaactgcagctaaccctagtcaaaactatttttgtaaaagacatttgatagaaaggaa       c.*1800

          .         .         .         .         .         .       g.145693
 cacgtttttacatacttttgcaaaataagtaaataataaataaaataaaagccaaccttc       c.*1860

          .         .         .         .         .         .       g.145753
 aaagaaacttgaagctttgtaggtgagatgcaacaagccctgcttttgcataatgcaatc       c.*1920

          .         .         .         .         .         .       g.145813
 aaaaatatgtgtttttaagattagttgaatataagaaaatgcttgacaaatattttcatg       c.*1980

          .         .         .         .         .         .       g.145873
 tattttacacaaatgtgatttttgtaatatgtctcaaccagatttattttaaacgcttct       c.*2040

          .         .         .         .         .         .       g.145933
 tatgtagagtttttatgcctttctctcctagtgagtgtgctgactttttaacatggtatt       c.*2100

          .         .         .         .         .         .       g.145993
 atcaactgggccaggaggtagtttctcatgacggcttttgtcagtatggcttttagtact       c.*2160

          .         .         .         .         .         .       g.146053
 gaagccaaatgaaactcaaaaccatctctcttccagctgcttcagggaggtagtttcaaa       c.*2220

          .         .         .         .         .         .       g.146113
 ggccacatacctctctgagactggcagatcgctcactgttgtgaatcaccaaaggagcta       c.*2280

          .         .         .         .         .         .       g.146173
 tggagagaattaaaactcaacattactgttaactgtgcgttaaataagcaaataaacagt       c.*2340

          .         .         .         .         .         .       g.146233
 ggctcataaaaataaaagtcgcattccatatctttggatgggccttttagaaacctcatt       c.*2400

          .         .         .         .         .         .       g.146293
 ggccagctcataaaatggaagcaattgctcatgttggccaaacatggtgcaccgagtgat       c.*2460

          .         .         .         .         .         .       g.146353
 ttccatctctggtaaagttacacttttatttcctgtatgttgtacaatcaaaacacacta       c.*2520

          .         .         .         .         .         .       g.146413
 ctacctcttaagtcccagtatacctcatttttcatactgaaaaaaaaagcttgtggccaa       c.*2580

          .         .         .         .         .         .       g.146473
 tggaacagtaagaacatcataaaatttttatatatatagtttatttttgtgggagataaa       c.*2640

          .         .         .         .         .         .       g.146533
 ttttataggactgttctttgctgttgttggtcgcagctacataagactggacatttaact       c.*2700

          .         .         .         .         .         .       g.146593
 tttctaccatttctgcaagttaggtatgtttgcaggagaaaagtatcaagacgtttaact       c.*2760

          .         .         .         .         .         .       g.146653
 gcagttgactttctccctgttcctttgagtgtcttctaactttattctttgttctttatg       c.*2820

          .         .         .         .         .         .       g.146713
 tagaattgctgtctatgattgtactttgaatcgcttgcttgttgaaaatatttctctagt       c.*2880

          .         .         .         .         .         .       g.146773
 gtattatcactgtctgttctgcacaataaacataacagcctctgtgatccccatgtgttt       c.*2940

          .         .         .         .         .                 g.146832
 tgattcctgctctttgttacagttccattaaatgagtaataaagtttggtcaaaacaga        c.*2999

 (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 High mobility group AT-hook 2 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.