NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa (NDUFV2) - coding DNA reference sequence

(used for variant description)

(last modified August 12, 2021)

This file was created to facilitate the description of sequence variants on transcript NM_021074.4 in the NDUFV2 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000018.9, covering NDUFV2 transcript NM_021074.4.

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

 (upstream sequence)
           .         .         .         .         .                g.5054
       gcgtgccgtccgggtcgcctaggcctggggtcgggagcgcgcacgctgtgcgcc       c.-61

 .         .         .         .         .         .                g.5114
 ctgggcgcgctcgggattctcgcctggcgcggctggggaaggtgaacagtgtggcccgcc       c.-1

          .         .         .         .         .     | 02   .    g.20214
 ATGTTCTTCTCCGCGGCGCTCCGGGCCCGGGCGGCTGGCCTCACCGCCCACTGG | GGAAGA    c.60
 M  F  F  S  A  A  L  R  A  R  A  A  G  L  T  A  H  W   | G  R      p.20

          .         .         .         .         .         .       g.20274
 CATGTAAGGAATTTGCATAAGACAGTTATGCAAAATGGAGCTGGAGGAGCTTTATTTGTG       c.120
 H  V  R  N  L  H  K  T  V  M  Q  N  G  A  G  G  A  L  F  V         p.40

  | 03       .         .         .         .         .         .    g.21756
  | CACAGAGATACTCCTGAGAATAACCCTGATACTCCATTTGATTTCACACCAGAAAACTAT    c.180
  | H  R  D  T  P  E  N  N  P  D  T  P  F  D  F  T  P  E  N  Y      p.60

     | 04    .         .         .         .         .         .    g.21901
 AAG | AGGATAGAGGCAATTGTAAAAAACTATCCAGAAGGCCATAAAGCAGCAGCTGTTCTT    c.240
 K   | R  I  E  A  I  V  K  N  Y  P  E  G  H  K  A  A  A  V  L      p.80

          .         .         .         .         .         .       g.21961
 CCAGTCCTGGATTTAGCCCAAAGGCAGAATGGGTGGTTGCCCATCTCTGCTATGAACAAG       c.300
 P  V  L  D  L  A  Q  R  Q  N  G  W  L  P  I  S  A  M  N  K         p.100

  | 05       .         .         .         .         .         .    g.24943
  | GTTGCAGAAGTTTTACAAGTACCTCCAATGAGAGTATATGAAGTAGCAACTTTTTATACA    c.360
  | V  A  E  V  L  Q  V  P  P  M  R  V  Y  E  V  A  T  F  Y  T      p.120

          .         .         .         .         .         .       g.25003
 ATGTATAATCGAAAGCCAGTTGGAAAGTATCACATTCAGGTCTGCACTACTACACCCTGC       c.420
 M  Y  N  R  K  P  V  G  K  Y  H  I  Q  V  C  T  T  T  P  C         p.140

          .         .         .         .          | 06        .    g.27255
 ATGCTTCGAAACTCTGACAGCATACTGGAGGCCATTCAGAAAAAGCTTG | GAATAAAGGTT    c.480
 M  L  R  N  S  D  S  I  L  E  A  I  Q  K  K  L  G |   I  K  V      p.160

          .         .         .         .         .         .       g.27315
 GGGGAGACTACACCTGACAAACTTTTCACTCTTATAGAAGTGGAATGTTTAGGGGCCTGT       c.540
 G  E  T  T  P  D  K  L  F  T  L  I  E  V  E  C  L  G  A  C         p.180

          .         .         .          | 07        .         .    g.29222
 GTGAACGCACCAATGGTTCAAATAAATGACAATTACTAT | GAGGATTTGACAGCTAAGGAT    c.600
 V  N  A  P  M  V  Q  I  N  D  N  Y  Y   | E  D  L  T  A  K  D      p.200

          .         .         .         .         .       | 08 .    g.36560
 ATTGAAGAAATTATTGATGAGCTCAAGGCTGGCAAAATCCCAAAACCAGGGCCAAG | GAGT    c.660
 I  E  E  I  I  D  E  L  K  A  G  K  I  P  K  P  G  P  R  |  S      p.220

          .         .         .         .         .         .       g.36620
 GGACGCTTCTCTTGTGAGCCAGCTGGAGGTCTTACCTCTTTGACTGAACCACCCAAGGGA       c.720
 G  R  F  S  C  E  P  A  G  G  L  T  S  L  T  E  P  P  K  G         p.240

          .         .         .                                     g.36650
 CCTGGATTTGGTGTACAAGCAGGCCTTTAA                                     c.750
 P  G  F  G  V  Q  A  G  L  X                                       p.249

          .         .         .         .         .         .       g.36710
 tttatattgaactgtaaatatgtcactagagaaataaaatatggacttccaatctacgta       c.*60

                                                                    g.36716
 aactta                                                             c.*66

 (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 NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa 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.