actin, gamma 2, smooth muscle, enteric (ACTG2) - coding DNA reference sequence

(used for variant description)

(last modified July 30, 2019)

This file was created to facilitate the description of sequence variants on transcript NM_001615.3 in the ACTG2 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_034140.1, covering ACTG2 transcript NM_001615.3.

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

 (upstream sequence)
                                                                    g.5002
                                                           gc       c.-121

 .         .         .         .         .         .                g.5062
 ctctggggttttatattgctctggtattcatgccaaagacacaccagccctcagtcactg       c.-61

 .         .         .    | 02    .         .         .             g.13346
 ggagaagaacctctcataccctcg | gtgctccagtccccagctcactcagccacacacacc    c.-1

          .         .         .         .         .         .       g.13406
 ATGTGTGAAGAGGAGACCACCGCGCTCGTGTGTGACAATGGCTCTGGCCTGTGCAAGGCA       c.60
 M  C  E  E  E  T  T  A  L  V  C  D  N  G  S  G  L  C  K  A         p.20

          .         .         .         .         .         .       g.13466
 GGCTTCGCAGGAGATGATGCCCCCCGGGCTGTCTTCCCCTCCATTGTGGGCCGCCCTCGC       c.120
 G  F  A  G  D  D  A  P  R  A  V  F  P  S  I  V  G  R  P  R         p.40

        | 03 .         .         .         .         .         .    g.14448
 CACCAG | GGTGTGATGGTGGGAATGGGCCAGAAAGACAGCTATGTGGGGGATGAGGCTCAG    c.180
 H  Q   | G  V  M  V  G  M  G  Q  K  D  S  Y  V  G  D  E  A  Q      p.60

          .         .         .         .         .         .       g.14508
 AGCAAGCGAGGGATCCTAACTCTCAAATACCCCATTGAACACGGCATCATCACCAACTGG       c.240
 S  K  R  G  I  L  T  L  K  Y  P  I  E  H  G  I  I  T  N  W         p.80

          .      | 04  .         .         .         .         .    g.20752
 GATGACATGGAGAAG | ATCTGGCACCACTCCTTCTACAATGAGCTGCGTGTAGCACCTGAA    c.300
 D  D  M  E  K   | I  W  H  H  S  F  Y  N  E  L  R  V  A  P  E      p.100

          .         .         .         .         .         .       g.20812
 GAGCACCCCACCCTGCTCACAGAGGCTCCCCTAAATCCCAAGGCCAACAGGGAAAAGATG       c.360
 E  H  P  T  L  L  T  E  A  P  L  N  P  K  A  N  R  E  K  M         p.120

        | 05 .         .         .         .         .         .    g.21143
 ACCCAG | ATCATGTTTGAAACCTTCAATGTCCCTGCCATGTACGTCGCCATTCAAGCTGTG    c.420
 T  Q   | I  M  F  E  T  F  N  V  P  A  M  Y  V  A  I  Q  A  V      p.140

          .         .         .  | 06      .         .         .    g.25548
 CTCTCCCTCTATGCCTCTGGCCGCACGACAG | GCATCGTCCTGGATTCAGGTGATGGCGTC    c.480
 L  S  L  Y  A  S  G  R  T  T  G |   I  V  L  D  S  G  D  G  V      p.160

          .         .         .         .         .         .       g.25608
 ACCCACAATGTCCCCATCTATGAAGGCTATGCCCTGCCCCATGCCATCATGCGCCTGGAC       c.540
 T  H  N  V  P  I  Y  E  G  Y  A  L  P  H  A  I  M  R  L  D         p.180

          .         .         .         .         .         .       g.25668
 TTGGCTGGCCGTGACCTCACGGACTACCTCATGAAGATCCTCACAGAGAGAGGCTATTCC       c.600
 L  A  G  R  D  L  T  D  Y  L  M  K  I  L  T  E  R  G  Y  S         p.200

          .    | 07    .         .         .         .         .    g.26761
 TTTGTGACCACAG | CTGAGAGAGAAATTGTGCGAGACATCAAGGAGAAGCTGTGCTATGTG    c.660
 F  V  T  T  A |   E  R  E  I  V  R  D  I  K  E  K  L  C  Y  V      p.220

          .         .         .         .         .         .       g.26821
 GCCCTGGATTTTGAGAATGAGATGGCCACAGCAGCTTCCTCTTCCTCCCTGGAGAAGAGC       c.720
 A  L  D  F  E  N  E  M  A  T  A  A  S  S  S  S  L  E  K  S         p.240

          .         .         .         .         .         .       g.26881
 TATGAGCTGCCAGATGGGCAGGTTATCACCATTGGCAATGAGCGCTTCCGCTGCCCTGAG       c.780
 Y  E  L  P  D  G  Q  V  I  T  I  G  N  E  R  F  R  C  P  E         p.260

          .         .      | 08  .         .         .         .    g.28653
 ACCCTCTTCCAGCCTTCCTTTATTG | GCATGGAGTCCGCTGGAATTCATGAGACAACCTAC    c.840
 T  L  F  Q  P  S  F  I  G |   M  E  S  A  G  I  H  E  T  T  Y      p.280

          .         .         .         .         .         .       g.28713
 AATTCCATCATGAAGTGTGACATTGACATCCGTAAGGACTTATATGCCAACAATGTCCTC       c.900
 N  S  I  M  K  C  D  I  D  I  R  K  D  L  Y  A  N  N  V  L         p.300

          .         .         .         .         .         .       g.28773
 TCTGGGGGCACCACCATGTACCCTGGCATTGCTGACAGGATGCAGAAGGAGATCACAGCC       c.960
 S  G  G  T  T  M  Y  P  G  I  A  D  R  M  Q  K  E  I  T  A         p.320

          .         .        | 09.         .         .         .    g.31499
 CTGGCCCCCAGCACCATGAAGATCAAG | ATTATTGCTCCCCCAGAGCGGAAGTACTCAGTC    c.1020
 L  A  P  S  T  M  K  I  K   | I  I  A  P  P  E  R  K  Y  S  V      p.340

          .         .         .         .         .         .       g.31559
 TGGATCGGGGGCTCTATCCTGGCCTCTCTCTCCACCTTCCAGCAGATGTGGATCAGCAAG       c.1080
 W  I  G  G  S  I  L  A  S  L  S  T  F  Q  Q  M  W  I  S  K         p.360

          .         .         .         .         .                 g.31610
 CCTGAGTATGATGAGGCAGGGCCCTCCATTGTCCACAGGAAGTGCTTCTAA                c.1131
 P  E  Y  D  E  A  G  P  S  I  V  H  R  K  C  F  X                  p.376

          .         .         .         .         .         .       g.31670
 agtcagaacaggttctccaaggatcccctcgagactactctgttaccagtcatgaaacat       c.*60

          .                                                         g.31688
 taaaacctacaagcctta                                                 c.*78

 (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 Actin, gamma 2, smooth muscle, enteric 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.