IMP (inosine 5'-monophosphate) dehydrogenase 2 (IMPDH2) - coding DNA reference sequence

(used for variant description)

(last modified March 18, 2021)

This file was created to facilitate the description of sequence variants on transcript NM_000884.2 in the IMPDH2 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_012091.1, covering IMPDH2 transcript NM_000884.2.

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

 (upstream sequence)
                               .         .         .                g.5032
                             cgaaatcggctggtttatattggcgcggccca       c.-61

 .         .         .         .         .         .                g.5092
 gacggcagaggtctctgcggcgcggtcctcggagacacgcggcggtgtcctgtgttggcc       c.-1

          .         .         .         .         .         .       g.5152
 ATGGCCGACTACCTGATTAGTGGGGGCACGTCCTACGTGCCAGACGACGGACTCACAGCA       c.60
 M  A  D  Y  L  I  S  G  G  T  S  Y  V  P  D  D  G  L  T  A         p.20

          .         .         .         | 02         .         .    g.5658
 CAGCAGCTCTTCAACTGCGGAGACGGCCTCACCTACAA | TGACTTTCTCATTCTCCCTGGG    c.120
 Q  Q  L  F  N  C  G  D  G  L  T  Y  N  |  D  F  L  I  L  P  G      p.40

          .         .        | 03.         .         .         .    g.5943
 TACATCGACTTCACTGCAGACCAGGTG | GACCTGACTTCTGCTCTGACCAAGAAAATCACT    c.180
 Y  I  D  F  T  A  D  Q  V   | D  L  T  S  A  L  T  K  K  I  T      p.60

          .         .         .         .         .         .       g.6003
 CTTAAGACCCCACTGGTTTCCTCTCCCATGGACACAGTCACAGAGGCTGGGATGGCCATA       c.240
 L  K  T  P  L  V  S  S  P  M  D  T  V  T  E  A  G  M  A  I         p.80

           | 04        .         .         .         .         .    g.6171
 GCAATGGCG | CTTACAGGCGGTATTGGCTTCATCCACCACAACTGTACACCTGAATTCCAG    c.300
 A  M  A   | L  T  G  G  I  G  F  I  H  H  N  C  T  P  E  F  Q      p.100

          .         .     | 05   .         .         .         .    g.6562
 GCCAATGAAGTTCGGAAAGTGAAG | AAATATGAACAGGGATTCATCACAGACCCTGTGGTC    c.360
 A  N  E  V  R  K  V  K   | K  Y  E  Q  G  F  I  T  D  P  V  V      p.120

          .         .         .         .         .         .       g.6622
 CTCAGCCCCAAGGATCGCGTGCGGGATGTTTTTGAGGCCAAGGCCCGGCATGGTTTCTGC       c.420
 L  S  P  K  D  R  V  R  D  V  F  E  A  K  A  R  H  G  F  C         p.140

          .         .         .         .         .         .       g.6682
 GGTATCCCAATCACAGACACAGGCCGGATGGGGAGCCGCTTGGTGGGCATCATCTCCTCC       c.480
 G  I  P  I  T  D  T  G  R  M  G  S  R  L  V  G  I  I  S  S         p.160

          .         .         .         .         .  | 06      .    g.7404
 AGGGACATTGATTTTCTCAAAGAGGAGGAACATGACTGTTTCTTGGAAGAG | ATAATGACA    c.540
 R  D  I  D  F  L  K  E  E  E  H  D  C  F  L  E  E   | I  M  T      p.180

          .         .         .         .         .         .       g.7464
 AAGAGGGAAGACTTGGTGGTAGCCCCTGCAGGCATCACACTGAAGGAGGCAAATGAAATT       c.600
 K  R  E  D  L  V  V  A  P  A  G  I  T  L  K  E  A  N  E  I         p.200

          .          | 07        .         .         .         .    g.7597
 CTGCAGCGCAGCAAGAAGG | GAAAGTTGCCCATTGTAAATGAAGATGATGAGCTTGTGGCC    c.660
 L  Q  R  S  K  K  G |   K  L  P  I  V  N  E  D  D  E  L  V  A      p.220

          .         .         .         .         .         .       g.7657
 ATCATTGCCCGGACAGACCTGAAGAAGAATCGGGACTACCCACTAGCCTCCAAAGATGCC       c.720
 I  I  A  R  T  D  L  K  K  N  R  D  Y  P  L  A  S  K  D  A         p.240

          .         .         .         .         .         .       g.7717
 AAGAAACAGCTGCTGTGTGGGGCAGCCATTGGCACTCATGAGGATGACAAGTATAGGCTG       c.780
 K  K  Q  L  L  C  G  A  A  I  G  T  H  E  D  D  K  Y  R  L         p.260

          .         .         .          | 08        .         .    g.7854
 GACTTGCTCGCCCAGGCTGGTGTGGATGTAGTGGTTTTG | GACTCTTCCCAGGGAAATTCC    c.840
 D  L  L  A  Q  A  G  V  D  V  V  V  L   | D  S  S  Q  G  N  S      p.280

          .         .         .         .         .         .       g.7914
 ATCTTCCAGATCAATATGATCAAGTACATCAAAGACAAATACCCTAATCTCCAAGTCATT       c.900
 I  F  Q  I  N  M  I  K  Y  I  K  D  K  Y  P  N  L  Q  V  I         p.300

          . | 09       .         .         .         .         .    g.8073
 GGAGGCAATG | TGGTCACTGCTGCCCAGGCCAAGAACCTCATTGATGCAGGTGTGGATGCC    c.960
 G  G  N  V |   V  T  A  A  Q  A  K  N  L  I  D  A  G  V  D  A      p.320

          .         .         .         .       | 10 .         .    g.9187
 CTGCGGGTGGGCATGGGAAGTGGCTCCATCTGCATTACGCAGGAAG | TGCTGGCCTGTGGG    c.1020
 L  R  V  G  M  G  S  G  S  I  C  I  T  Q  E  V |   L  A  C  G      p.340

          .         .         .         .         .         .       g.9247
 CGGCCCCAAGCAACAGCAGTGTACAAGGTGTCAGAGTATGCACGGCGCTTTGGTGTTCCG       c.1080
 R  P  Q  A  T  A  V  Y  K  V  S  E  Y  A  R  R  F  G  V  P         p.360

          .         .         .         .         .         .       g.9307
 GTCATTGCTGATGGAGGAATCCAAAATGTGGGTCATATTGCGAAAGCCTTGGCCCTTGGG       c.1140
 V  I  A  D  G  G  I  Q  N  V  G  H  I  A  K  A  L  A  L  G         p.380

          . | 11       .         .         .         .         .    g.9452
 GCCTCCACAG | TCATGATGGGCTCTCTCCTGGCTGCCACCACTGAGGCCCCTGGTGAATAC    c.1200
 A  S  T  V |   M  M  G  S  L  L  A  A  T  T  E  A  P  G  E  Y      p.400

          .         .         .         .         .         .       g.9512
 TTCTTTTCCGATGGGATCCGGCTAAAGAAATATCGCGGTATGGGTTCTCTCGATGCCATG       c.1260
 F  F  S  D  G  I  R  L  K  K  Y  R  G  M  G  S  L  D  A  M         p.420

          .         .         .      | 12  .         .         .    g.9665
 GACAAGCACCTCAGCAGCCAGAACAGATATTTCAG | TGAAGCTGACAAAATCAAAGTGGCC    c.1320
 D  K  H  L  S  S  Q  N  R  Y  F  S  |  E  A  D  K  I  K  V  A      p.440

          .         .         .         .         .         .       g.9725
 CAGGGAGTGTCTGGTGCTGTGCAGGACAAAGGGTCAATCCACAAATTTGTCCCTTACCTG       c.1380
 Q  G  V  S  G  A  V  Q  D  K  G  S  I  H  K  F  V  P  Y  L         p.460

          .         .         .         .         .          | 13    g.9865
 ATTGCTGGCATCCAACACTCATGCCAGGACATTGGTGCCAAGAGCTTGACCCAAGTCCG | A    c.1440
 I  A  G  I  Q  H  S  C  Q  D  I  G  A  K  S  L  T  Q  V  R  |      p.480

          .         .         .         .         .         .       g.9925
 GCCATGATGTACTCTGGGGAGCTTAAGTTTGAGAAGAGAACGTCCTCAGCCCAGGTGGAA       c.1500
 A  M  M  Y  S  G  E  L  K  F  E  K  R  T  S  S  A  Q  V  E         p.500

          .         .    | 14    .         .                        g.10075
 GGTGGCGTCCATAGCCTCCATTC | GTATGAGAAGCGGCTTTTCTGA                   c.1545
 G  G  V  H  S  L  H  S  |  Y  E  K  R  L  F  X                     p.514

          .         .         .         .         .                 g.10133
 aaagggatccagcacacctcctcggtttttttttcaataaaagtttagaaagaaaaaa         c.*58

 (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 IMP (inosine 5'-monophosphate) dehydrogenase 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.