ovo-like 2 (Drosophila) (OVOL2) - coding DNA reference sequence

(used for variant description)

(last modified March 24, 2018)

This file was created to facilitate the description of sequence variants on transcript NM_021220.2 in the OVOL2 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_046859.1, covering OVOL2 transcript NM_021220.2.

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

 (upstream sequence)
                                                                    g.5003
                                                          ttt       c.-241

 .         .         .         .         .         .                g.5063
 tccccggcgtggtctcactcgcgatttaaggcataggtgtcgccgagccgggaggctggg       c.-181

 .         .         .         .         .         .                g.5123
 agtcgccaggcgtgcgggggagaggcctgggccgcgccgcggcggggggtggaggaagag       c.-121

 .         .         .         .         .         .                g.5183
 ggcaggcgaggcgggaaggtgggctctggccgccgggagccggggacggagccgccgccg       c.-61

 .         .         .         .         .         .                g.5243
 ttgcccctagcggggagcagccgggaggagggggccgcagtcgggagaggggaccccacc       c.-1

          .         .         .         .         .         .       g.5303
 ATGCCCAAAGTCTTCCTGGTGAAGAGGAGGAGCCTGGGGGTCTCGGTCCGCAGCTGGGAT       c.60
 M  P  K  V  F  L  V  K  R  R  S  L  G  V  S  V  R  S  W  D         p.20

          .         .         .         . | 02       .         .    g.6020
 GAGCTCCCGGATGAGAAAAGGGCAGACACCTACATCCCAG | TGGGCCTAGGCCGCCTGCTC    c.120
 E  L  P  D  E  K  R  A  D  T  Y  I  P  V |   G  L  G  R  L  L      p.40

          .         .         .         .         .         .       g.6080
 CACGACCCCCCCGAGGACTGCCGCAGCGACGGCGGCAGCAGCAGCGGCAGCGGCAGCAGC       c.180
 H  D  P  P  E  D  C  R  S  D  G  G  S  S  S  G  S  G  S  S         p.60

          .         .         .         .         .         .       g.6140
 AGCGCGGGGGAGCCTGGAGGAGCAGAGAGCAGCTCGTCCCCGCACGCCCCCGAGAGCGAA       c.240
 S  A  G  E  P  G  G  A  E  S  S  S  S  P  H  A  P  E  S  E         p.80

          .         .         .         .         .         .       g.6200
 ACCCCCGAGCCCGGCGACGCCGAGGGCCCCGATGGACACCTGGCGACCAAGCAGCGCCCG       c.300
 T  P  E  P  G  D  A  E  G  P  D  G  H  L  A  T  K  Q  R  P         p.100

          .         .  | 03      .         .         .         .    g.21193
 GTCGCCAGATCGAAAATCAAG | TTCACCACAGGCACGTGCAGCGACTCGGTGGTTCACAGC    c.360
 V  A  R  S  K  I  K   | F  T  T  G  T  C  S  D  S  V  V  H  S      p.120

          .         .         .         .         .         .       g.21253
 TGTGACCTGTGTGGCAAGGGCTTCCGTCTGCAGCGCATGCTGAACCGTCACCTCAAGTGC       c.420
 C  D  L  C  G  K  G  F  R  L  Q  R  M  L  N  R  H  L  K  C         p.140

          .         .         .         .         .         .       g.21313
 CACAACCAGGTGAAAAGACACCTGTGCACCTTCTGCGGCAAGGGCTTCAACGACACCTTC       c.480
 H  N  Q  V  K  R  H  L  C  T  F  C  G  K  G  F  N  D  T  F         p.160

          .         .         .  | 04      .         .         .    g.37954
 GACCTGAAGAGGCACGTCCGCACACACACAG | GCATTCGTCCCTACAAATGCAACGTCTGC    c.540
 D  L  K  R  H  V  R  T  H  T  G |   I  R  P  Y  K  C  N  V  C      p.180

          .         .         .         .         .         .       g.38014
 AATAAAGCCTTCACCCAGCGCTGCTCTCTGGAGTCCCACCTGAAGAAAATCCATGGGGTG       c.600
 N  K  A  F  T  Q  R  C  S  L  E  S  H  L  K  K  I  H  G  V         p.200

          .         .         .         .         .         .       g.38074
 CAGCAGCAGTATGCCTATAAGCAGCGGCGGGACAAGCTCTACGTCTGCGAGGATTGCGGC       c.660
 Q  Q  Q  Y  A  Y  K  Q  R  R  D  K  L  Y  V  C  E  D  C  G         p.220

          .         .         .         .         .         .       g.38134
 TACACGGGCCCCACCCAGGAGGACCTGTACCTGCACGTGAACAGTGCCCATCCGGGCAGC       c.720
 Y  T  G  P  T  Q  E  D  L  Y  L  H  V  N  S  A  H  P  G  S         p.240

          .         .         .         .         .         .       g.38194
 TCGTTTCTCAAAAAGACATCTAAAAAACTGGCAGCCCTTCTGCAGGGCAAGCTGACATCC       c.780
 S  F  L  K  K  T  S  K  K  L  A  A  L  L  Q  G  K  L  T  S         p.260

          .         .         .         .                           g.38242
 GCACACCAGGAGAATACCAGCCTGAGTGAGGAGGAGGAGAGGAAGTGA                   c.828
 A  H  Q  E  N  T  S  L  S  E  E  E  E  R  K  X                     p.275

          .         .         .         .         .         .       g.38302
 ggagaaggaaggggaggacagacgttcacactgccacgtatgtctacgtggatttttggt       c.*60

          .         .         .         .         .         .       g.38362
 tttcagcttcccccaccccactggctcttcttaattagaagtgaccagttcacctctgtg       c.*120

          .         .         .         .         .         .       g.38422
 tccttttgaaacatcagcagtagggtccattccaagattgtcagttgccgttagtgacgt       c.*180

          .         .         .         .         .         .       g.38482
 caggccctgtaacctgtgtcctgtctggcgcagttgctcacattcaccaaagtttgtttt       c.*240

          .         .         .         .         .         .       g.38542
 catgatcctgatggccaagaacaccgtgtgggatttttttttcccccaaggattttcaca       c.*300

          .         .         .         .         .         .       g.38602
 cacggaaggagaggtatttcttagagagatcatcattttatggtgccttgaaataaaaat       c.*360

          .         .         .         .         .         .       g.38662
 acttctacttgaaatgctgtttaagcaaggcaagtgaattttgttattctgaaagagttt       c.*420

          .         .         .         .         .         .       g.38722
 acagaaactattttaataaatgaaatgttcttgtgaagcttttaaaagcaaaatggaaca       c.*480

                                                                    g.38726
 ttga                                                               c.*484

 (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 Ovo-like 2 (Drosophila) 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.