troponin T type 2 (cardiac) (TNNT2) - coding DNA reference sequence

(used for variant description)

(last modified April 29, 2016)

This file was created to facilitate the description of sequence variants on transcript NM_000364.2 in the TNNT2 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_007556.1, covering TNNT2 transcript NM_000364.2.

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

 (upstream sequence)
                                                                    g.5009
                                                    ccccgctga       c.-61

 .         .         .         .         .      | 02  .             g.9423
 gactgagcagacgcctccaggatctgtcggcagctgctgttctgag | ggagagcagagacc    c.-1

          .         .         .         .  | 03      .   | 04     . g.10644
 ATGTCTGACATAGAAGAGGTGGTGGAAGAGTACGAGGAGGA | GGAGCAGGAAG | AAGCAGCT c.60
 M  S  D  I  E  E  V  V  E  E  Y  E  E  E  |  E  Q  E  E |   A  A   p.20

         | 05.         .         .        | 06.         .         . g.14473
 GTTGAAG | AAGAGGAGGACTGGAGAGAGGACGAAGACG | AGCAGGAGGAGGCAGCGGAAGAG c.120
 V  E  E |   E  E  D  W  R  E  D  E  D  E |   Q  E  E  A  A  E  E   p.40

          .         .         .         .    | 07    .         .    g.14888
 GATGCTGAAGCAGAGGCTGAGACCGAGGAGACCAGGGCAGAAG | AAGATGAAGAAGAAGAG    c.180
 D  A  E  A  E  A  E  T  E  E  T  R  A  E  E |   D  E  E  E  E      p.60

          .          | 08        .         .         .    | 09    . g.17014
 GAAGCAAAGGAGGCTGAAG | ATGGCCCAATGGAGGAGTCCAAACCAAAGCCCAG | GTCGTTC c.240
 E  A  K  E  A  E  D |   G  P  M  E  E  S  K  P  K  P  R  |  S  F   p.80

          .         .         .         .         .     | 10   .    g.17376
 ATGCCCAACTTGGTGCCTCCCAAGATCCCCGATGGAGAGAGAGTGGACTTTGAT | GACATC    c.300
 M  P  N  L  V  P  P  K  I  P  D  G  E  R  V  D  F  D   | D  I      p.100

          .         .         .         .         .         .       g.17436
 CACCGGAAGCGCATGGAGAAGGACCTGAATGAGTTGCAGGCGCTGATCGAGGCTCACTTT       c.360
 H  R  K  R  M  E  K  D  L  N  E  L  Q  A  L  I  E  A  H  F         p.120

          .         .         .         .         .  | 11      .    g.18311
 GAGAACAGGAAGAAAGAGGAGGAGGAGCTCGTTTCTCTCAAAGACAGGATC | GAGAGACGT    c.420
 E  N  R  K  K  E  E  E  E  L  V  S  L  K  D  R  I   | E  R  R      p.140

          .         .         .         .         .         .       g.18371
 CGGGCAGAGCGGGCCGAGCAGCAGCGCATCCGGAATGAGCGGGAGAAGGAGCGGCAGAAC       c.480
 R  A  E  R  A  E  Q  Q  R  I  R  N  E  R  E  K  E  R  Q  N         p.160

           | 12        .         .         .         .         .    g.19322
 CGCCTGGCT | GAAGAGAGGGCTCGACGAGAGGAGGAGGAGAACAGGAGGAAGGCTGAGGAT    c.540
 R  L  A   | E  E  R  A  R  R  E  E  E  E  N  R  R  K  A  E  D      p.180

          .         .         .         .         .         .       g.19382
 GAGGCCCGGAAGAAGAAGGCTTTGTCCAACATGATGCATTTTGGGGGTTACATCCAGAAG       c.600
 E  A  R  K  K  K  A  L  S  N  M  M  H  F  G  G  Y  I  Q  K         p.200

  | 13       .         .         .         .         .         .    g.20715
  | ACAGAGCGGAAAAGTGGGAAGAGGCAGACTGAGCGGGAAAAGAAGAAGAAGATTCTGGCT    c.660
  | T  E  R  K  S  G  K  R  Q  T  E  R  E  K  K  K  K  I  L  A      p.220

          .         .         .         .         . | 14       .    g.21318
 GAGAGGAGGAAGGTGCTGGCCATTGACCACCTGAATGAAGATCAGCTGAG | GGAGAAGGCC    c.720
 E  R  R  K  V  L  A  I  D  H  L  N  E  D  Q  L  R  |  E  K  A      p.240

          .         .         .         .         .         .       g.21378
 AAGGAGCTGTGGCAGAGCATCTATAACTTGGAGGCAGAGAAGTTCGACCTGCAGGAGAAG       c.780
 K  E  L  W  Q  S  I  Y  N  L  E  A  E  K  F  D  L  Q  E  K         p.260

          .         .  | 15      .         .         .         .    g.23053
 TTCAAGCAGCAGAAATATGAG | ATCAATGTTCTCCGAAACAGGATCAACGATAACCAGAAA    c.840
 F  K  Q  Q  K  Y  E   | I  N  V  L  R  N  R  I  N  D  N  Q  K      p.280

    | 16     .         .         .         .                        g.23480
 GT | CTCCAAGACCCGCGGGAAGGCTAAAGTCACCGGGCGCTGGAAATAG                c.888
 V  |  S  K  T  R  G  K  A  K  V  T  G  R  W  K  X                  p.295

          .         .         .         .         .         .       g.23540
 agcctggcctccttcaccaaagatctgctcctcgctcgcacctgcctccggcctgcactc       c.*60

          .         .         .         .         .         .       g.23600
 ccccagttcccgggccctcctgggcaccccaggcagctcctgtttggaaatggggagctg       c.*120

          .         .         .         .         .         .       g.23660
 gcctaggtgggagccaccactcctgcctgcccccacacccactccacaccagtaataaaa       c.*180

          .                                                         g.23676
 agccaccacacactga                                                   c.*196

 (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 Troponin T type 2 (cardiac) 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.