interferon gamma receptor 2 (interferon gamma transducer 1) (IFNGR2) - coding DNA reference sequence

(used for mutation description)

(last modified May 1, 2014)

This file was created to facilitate the description of sequence variants in the IFNGR2 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000021.8, covering IFNGR2 transcript NM_005534.3.

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

 (upstream sequence)
                     .         .         .         .                g.1048
             gttgactggaggcggaggttgcagtgagccgagatcgccccactgcac       c.-601

 .         .         .         .         .         .                g.1108
 tccagcctggtgactccgtctcaaaaaaaaggggaggggggcgggggagagttgaaagct       c.-541

 .         .         .         .         .         .                g.1168
 taatatgtactttgggggctattaaagcaaacatttcgactaaaggggcgaatcctcgaa       c.-481

 .         .         .         .         .         .                g.1228
 ttgtgcgatcaagcacccgagaggagagttggggggggtcaggaggggtgggggctccag       c.-421

 .         .         .         .         .         .                g.1288
 ggaaagcccgggggtctgggccggggtctcgcggggcccttccggaaggatcgcggcccc       c.-361

 .         .         .         .         .         .                g.1348
 cgaaggtgggcgtcccgcggggctccagtctccaggacgttccgggaggctccgcgctct       c.-301

 .         .         .         .         .         .                g.1408
 gggaggccggctgcgtggggtccccgcgctgcagccgcagaggccccccagggccgcggt       c.-241

 .         .         .         .         .         .                g.1468
 tcccggagcgggaaagtcccgcgcgggggcggtggcctcgggggcgggacggggcggggg       c.-181

 .         .         .         .         .         .                g.1528
 cgggggcgcgggcggccgagccgaatcccctccaccgggacgccccgctgctgctcggga       c.-121

 .         .         .         .         .         .                g.1588
 agaggcgggccctgcgcgccctgcgctcgccatggcggtttgggcggcgacgtgagcggc       c.-61

 .         .         .         .         .         .                g.1648
 tccgcggaccccgagcggggccccggccgcgacctgagccgccgccgagcgcccggggcc       c.-1

          .         .         .         .         .         .       g.1708
 ATGCGACCGACGCTGCTGTGGTCGCTGCTGCTGCTGCTCGGAGTCTTCGCCGCCGCCGCC       c.60
 M  R  P  T  L  L  W  S  L  L  L  L  L  G  V  F  A  A  A  A         p.20

          .    | 02    .         .         .         .         .    g.13040
 GCGGCCCCGCCAG | ACCCTCTTTCCCAGCTGCCCGCTCCTCAGCACCCGAAGATTCGCCTG    c.120
 A  A  P  P  D |   P  L  S  Q  L  P  A  P  Q  H  P  K  I  R  L      p.40

          .         .         .         .         .         .       g.13100
 TACAACGCAGAGCAGGTCCTGAGTTGGGAGCCAGTGGCCCTGAGCAATAGCACGAGGCCT       c.180
 Y  N  A  E  Q  V  L  S  W  E  P  V  A  L  S  N  S  T  R  P         p.60

          .         .       | 03 .         .         .         .    g.19619
 GTTGTCTACCAAGTGCAGTTTAAATA | CACCGACAGTAAATGGTTCACGGCCGACATCATG    c.240
 V  V  Y  Q  V  Q  F  K  Y  |  T  D  S  K  W  F  T  A  D  I  M      p.80

          .         .         .         .         .         .       g.19679
 TCCATAGGGGTGAATTGTACACAGATCACAGCAACAGAGTGTGACTTCACTGCCGCCAGT       c.300
 S  I  G  V  N  C  T  Q  I  T  A  T  E  C  D  F  T  A  A  S         p.100

          .         .         .         .         .         .       g.19739
 CCCTCAGCAGGCTTCCCAATGGATTTCAATGTCACTCTACGCCTTCGAGCTGAGCTGGGA       c.360
 P  S  A  G  F  P  M  D  F  N  V  T  L  R  L  R  A  E  L  G         p.120

          .         .         .         .         .   | 04     .    g.24997
 GCACTCCATTCTGCCTGGGTGACAATGCCTTGGTTTCAACACTATCGGAATG | TGACTGTC    c.420
 A  L  H  S  A  W  V  T  M  P  W  F  Q  H  Y  R  N  V |   T  V      p.140

          .         .         .         .         .         .       g.25057
 GGGCCTCCAGAAAACATTGAGGTGACCCCAGGAGAAGGCTCCCTCATCATCAGGTTCTCC       c.480
 G  P  P  E  N  I  E  V  T  P  G  E  G  S  L  I  I  R  F  S         p.160

          .         .         .         .         .         .       g.25117
 TCTCCCTTTGACATCGCTGATACCTCCACGGCCTTTTTTTGTTATTATGTCCATTACTGG       c.540
 S  P  F  D  I  A  D  T  S  T  A  F  F  C  Y  Y  V  H  Y  W         p.180

          .         .  | 05      .         .         .         .    g.30321
 GAAAAAGGAGGAATCCAACAG | GTCAAAGGCCCTTTCAGAAGCAACTCCATTTCATTGGAT    c.600
 E  K  G  G  I  Q  Q   | V  K  G  P  F  R  S  N  S  I  S  L  D      p.200

          .         .         .         .         .         .       g.30381
 AACTTAAAACCCTCCAGAGTGTACTGTTTACAAGTCCAGGCACAACTGCTTTGGAACAAA       c.660
 N  L  K  P  S  R  V  Y  C  L  Q  V  Q  A  Q  L  L  W  N  K         p.220

          .         .         .         .         .         .       g.30441
 AGTAACATCTTTAGAGTCGGGCATTTAAGCAACATATCTTGCTACGAAACAATGGCAGAT       c.720
 S  N  I  F  R  V  G  H  L  S  N  I  S  C  Y  E  T  M  A  D         p.240

   | 06      .         .         .         .         .         .    g.30878
 G | CCTCCACTGAGCTTCAGCAAGTCATCCTGATCTCCGTGGGAACATTTTCGTTGCTGTCG    c.780
 A |   S  T  E  L  Q  Q  V  I  L  I  S  V  G  T  F  S  L  L  S      p.260

          .         .         .         .         .         .       g.30938
 GTGCTGGCAGGAGCCTGTTTCTTCCTGGTCCTGAAATATAGAGGCCTGATTAAATACTGG       c.840
 V  L  A  G  A  C  F  F  L  V  L  K  Y  R  G  L  I  K  Y  W         p.280

          .         .         .          | 07        .         .    g.34954
 TTTCACACTCCACCAAGCATCCCATTACAGATAGAAGAG | TATTTAAAAGACCCAACTCAG    c.900
 F  H  T  P  P  S  I  P  L  Q  I  E  E   | Y  L  K  D  P  T  Q      p.300

          .         .         .         .         .         .       g.35014
 CCCATCTTAGAGGCCTTGGACAAGGACAGCTCACCAAAGGATGACGTCTGGGACTCTGTG       c.960
 P  I  L  E  A  L  D  K  D  S  S  P  K  D  D  V  W  D  S  V         p.320

          .         .         .         .         .                 g.35068
 TCCATTATCTCGTTTCCGGAAAAGGAGCAAGAAGATGTTCTCCAAACGCTTTGA             c.1014
 S  I  I  S  F  P  E  K  E  Q  E  D  V  L  Q  T  L  X               p.337

          .         .         .         .         .         .       g.35128
 accaaagcatgggcctagcccactggctccctggaagagatcaagccatcggagctgcta       c.*60

          .         .         .         .         .         .       g.35188
 gagttctgtctggactttccagagaccagtattcccttttgctgcctctaaaaggcctgt       c.*120

          .         .         .         .         .         .       g.35248
 ccctgcagacatgagagacagcaggtctcatgggggtgacaagctttttttttttttctt       c.*180

          .         .         .         .         .         .       g.35308
 aaagaattttcaaaatcaaattccagaatgattttacggagatatcccaggaaaattaag       c.*240

          .         .         .         .         .         .       g.35368
 gcttctcttaaacactaaaaaggcatgtaattgcttgttagcaaaatggatatgacacat       c.*300

          .         .         .         .         .         .       g.35428
 ctctgatacttttttcattattggttgggctgagcagtcagaagacctggtcgtcgtctt       c.*360

          .         .         .         .         .         .       g.35488
 gactttggcaaatgagccggagccccttgggcaggtcacacaacctgtcccagcgaggga       c.*420

          .         .         .         .         .         .       g.35548
 caccgagtggcccttcatgtacatccatggtgtgctggcttaaaatgtaattaatcttgt       c.*480

          .         .         .         .         .         .       g.35608
 aaatatactcctagtaatttaagattttgtttttaaactggaaataaaagattgtatagt       c.*540

          .                                                         g.35627
 gcatgttttttaaagtcta                                                c.*559

 (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 Interferon gamma receptor 2 (interferon gamma transducer 1) 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 mutations, all stop codons in the +1 frame are shown in bold while all stop codons in the +2 frame are underlined.