colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) (CSF2RA) - coding DNA reference sequence

(used for variant description)

(last modified October 20, 2021)

This file was created to facilitate the description of sequence variants on transcript NM_172245.2 in the CSF2RA gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000024.9, covering CSF2RA transcript NM_172245.2.

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

 (upstream sequence)
           .         .         .         .         .                g.5050
           ctctgaagggagctactcagaagcgggagtctccgagagaagaaaagcag       c.-121

 .         .         .          | 02        .         .             g.10985
 gtggaaggagaggaagcggatgccgtgggg | tttacagcaggaaaatccgtggagacagca    c.-61

 .         .         .         .    | 03    .         .             g.18904
 gatccgagaagcggcgatgtttgcgtagaaccct | ctcttcccttctctctgaccagcacc    c.-1

          .         .         .         .         .         .       g.18964
 ATGCTTCTCCTGGTGACAAGCCTTCTGCTCTGTGAGTTACCACACCCAGCATTCCTCCTG       c.60
 M  L  L  L  V  T  S  L  L  L  C  E  L  P  H  P  A  F  L  L         p.20

          .       | 04 .         .         .         .         .    g.22022
 ATCCCAGAGAAATCGG | ATCTGCGAACAGTGGCACCAGCCTCTAGTCTCAATGTGAGGTTT    c.120
 I  P  E  K  S  D |   L  R  T  V  A  P  A  S  S  L  N  V  R  F      p.40

          .         .         .         .         .         .       g.22082
 GACTCCAGGACGATGAATTTAAGCTGGGACTGCCAAGAAAACACAACCTTCAGCAAGTGT       c.180
 D  S  R  T  M  N  L  S  W  D  C  Q  E  N  T  T  F  S  K  C         p.60

          .         .         .          | 05        .         .    g.24740
 TTCTTAACTGACAAGAAGAACAGAGTCGTGGAACCCAGG | CTCAGTAACAACGAATGTTCG    c.240
 F  L  T  D  K  K  N  R  V  V  E  P  R   | L  S  N  N  E  C  S      p.80

          .         .         .         .         .         .       g.24800
 TGCACATTTCGTGAAATTTGTCTGCATGAAGGAGTCACATTTGAGGTTCACGTGAATACT       c.300
 C  T  F  R  E  I  C  L  H  E  G  V  T  F  E  V  H  V  N  T         p.100

          .         .         .         .    | 06    .         .    g.24976
 AGTCAAAGAGGATTTCAACAGAAACTGCTTTATCCAAATTCAG | GAAGGGAGGGTACCGCT    c.360
 S  Q  R  G  F  Q  Q  K  L  L  Y  P  N  S  G |   R  E  G  T  A      p.120

          .         .         .         .         .         .       g.25036
 GCTCAGAATTTCTCCTGTTTCATCTACAATGCGGATTTAATGAACTGTACCTGGGCGAGG       c.420
 A  Q  N  F  S  C  F  I  Y  N  A  D  L  M  N  C  T  W  A  R         p.140

          .         .         .         .         .    | 07    .    g.26544
 GGTCCGACGGCCCCCCGTGACGTCCAGTATTTTTTGTACATACGAAACTCAAA | GAGAAGG    c.480
 G  P  T  A  P  R  D  V  Q  Y  F  L  Y  I  R  N  S  K  |  R  R      p.160

          .         .         .         .         .         .       g.26604
 AGGGAGATCCGGTGTCCTTATTACATACAAGACTCAGGAACCCATGTGGGATGTCACCTG       c.540
 R  E  I  R  C  P  Y  Y  I  Q  D  S  G  T  H  V  G  C  H  L         p.180

          .         .         .         .         .         .       g.26664
 GATAACCTGTCAGGATTAACGTCTCGCAATTACTTTCTGGTTAACGGAACCAGCCGAGAA       c.600
 D  N  L  S  G  L  T  S  R  N  Y  F  L  V  N  G  T  S  R  E         p.200

          .         .         .         .       | 08 .         .    g.30542
 ATTGGCATCCAATTCTTTGATTCACTTTTGGACACAAAGAAAATAG | AACGATTCAACCCT    c.660
 I  G  I  Q  F  F  D  S  L  L  D  T  K  K  I  E |   R  F  N  P      p.220

          .         .         .         .         .         .       g.30602
 CCCAGCAATGTCACCGTACGTTGCAACACGACGCACTGCCTCGTACGGTGGAAACAGCCC       c.720
 P  S  N  V  T  V  R  C  N  T  T  H  C  L  V  R  W  K  Q  P         p.240

          .         .         .         .         .         .       g.30662
 AGGACCTATCAGAAGCTGTCGTACCTGGACTTTCAGTACCAGCTGGACGTCCACAGAAAG       c.780
 R  T  Y  Q  K  L  S  Y  L  D  F  Q  Y  Q  L  D  V  H  R  K         p.260

  | 09       .         .         . | 10       .         .         . g.36721
  | AATACCCAGCCTGGCACGGAAAACCTACTG | ATTAATGTTTCTGGTGATTTGGAAAATAGA c.840
  | N  T  Q  P  G  T  E  N  L  L   | I  N  V  S  G  D  L  E  N  R   p.280

          .         .         .         .         .         .       g.36781
 TACAACTTTCCAAGCTCTGAGCCCAGAGCAAAACACAGTGTGAAGATCAGAGCTGCAGAC       c.900
 Y  N  F  P  S  S  E  P  R  A  K  H  S  V  K  I  R  A  A  D         p.300

          .         .         .         .       | 11 .         .    g.40137
 GTCCGCATCTTGAATTGGAGCTCCTGGAGTGAAGCCATTGAATTTG | GTTCTGACGACGGG    c.960
 V  R  I  L  N  W  S  S  W  S  E  A  I  E  F  G |   S  D  D  G      p.320

          .         .         .         .         .         .       g.40197
 AACCTCGGCTCTGTGTACATTTATGTGCTCCTAATCGTGGGAACCCTTGTCTGTGGCATC       c.1020
 N  L  G  S  V  Y  I  Y  V  L  L  I  V  G  T  L  V  C  G  I         p.340

          .         .    | 12    .         .         .         .    g.41683
 GTCCTCGGCTTCCTCTTTAAAAG | GTTCCTTAGGATACAGCGGCTGTTCCCGCCAGTTCCA    c.1080
 V  L  G  F  L  F  K  R  |  F  L  R  I  Q  R  L  F  P  P  V  P      p.360

          .         .         .         .      | 13  .         .    g.45617
 CAGATCAAAGACAAACTGAATGATAACCATGAGGTGGAAGACGAG | ATCATCTGGGAGGAA    c.1140
 Q  I  K  D  K  L  N  D  N  H  E  V  E  D  E   | I  I  W  E  E      p.380

          .         .         .         .         .         .       g.45677
 TTCACCCCAGAGGAAGGGAAAGGCTACCGCGAAGAGGTCTTGACCGTGAAGGAAATTACC       c.1200
 F  T  P  E  E  G  K  G  Y  R  E  E  V  L  T  V  K  E  I  T         p.400

                                                                    g.45680
 TGA                                                                c.1203
 X                                                                  p.400

          .         .         .         .         .         .       g.45740
 gacccagagggtgtaggaatggcatggacatctccgcctccgcgacacgggggaactgtt       c.*60

          .         .         .         .         .         .       g.45800
 ttcttgatgatgctgtgaacctttatatcattttctatgtttttatttaaaaacatgaca       c.*120

          .         .         .         .         .         .       g.45860
 tttggggccaggcgcggtggctcacgcctgtaatcccagcactttgggaggccaaggcag       c.*180

          .         .         .         .         .         .       g.45920
 gcggatcacctgaggtcaggagttcaagaccagcctgcccaacatggtgaaaccccatct       c.*240

          .         .         .         .         .         .       g.45980
 ggactaaaaatgcagaaatttacccaggcacggcggcggacgcccatcatcccagctact       c.*300

          .         .         .         .         .         .       g.46040
 tgggaggctgaggcaggagaattgcttgaacccgtgaggcggaggttgtagtgagccaag       c.*360

          .         .         .         .         .         .       g.46100
 atcgcaccattgcacaccaacctgcgtgacagagcaagattgcatctcaaaacaaacaat       c.*420

          .         .         .                                     g.46136
 aataataaataataaaaacctgatatttggctgggc                               c.*456

 (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 Colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) 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.