post-GPI attachment to proteins 2 (PGAP2) - coding DNA reference sequence

(used for variant description)

(last modified December 19, 2014)

This file was created to facilitate the description of sequence variants on transcript NM_001256240.1 in the PGAP2 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000011.9, covering PGAP2 transcript NM_001256240.1.

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

 (upstream sequence)
                                                                    g.15818
                                                       gagagc       c.-121

 .         .         .         .         .         .                g.15878
 gccggccccgcccccgccgttcgcgctctgaccagcccgcagagccagcccccgaccccg       c.-61

 .         .         .         .         .          | 02            g.18536
 ggccacctgggcccccgggttccgccggcactctcgccaccaccgcgtgg | gtctgacaag    c.-1

          .         .         .         .         .         .       g.18596
 ATGTACCAGGTCCCACTACCACTGGATCGGGATGGGACCCTGGTACGGCTCCGCTTCACC       c.60
 M  Y  Q  V  P  L  P  L  D  R  D  G  T  L  V  R  L  R  F  T         p.20

          .         .         .         .         .         .       g.18656
 ATGGTGGCCCTGGTCACGGTCTGCTGTCCACTTGTCGCCTTCCTCTTCTGCATCCTCTGG       c.120
 M  V  A  L  V  T  V  C  C  P  L  V  A  F  L  F  C  I  L  W         p.40

          .         .         .         .      | 03  .         .    g.31174
 TCCCTGCTCTTCCACTTCAAGGAGACAACGGCCACACACTGTGGG | GTGCCCAATTACCTG    c.180
 S  L  L  F  H  F  K  E  T  T  A  T  H  C  G   | V  P  N  Y  L      p.60

          .         .         .         .         .         .       g.31234
 CCCTCGGTGAGCTCAGCCATCGGCGGGGAGGTGCCCCAGCGCTACGTGTGGCGTTTCTGC       c.240
 P  S  V  S  S  A  I  G  G  E  V  P  Q  R  Y  V  W  R  F  C         p.80

          .         .         .         .         .         .       g.31294
 ATCGGCCTGCACTCGGCGCCTCGCTTCTTGGTGGCCTTCGCCTACTGGAACCACTACCTC       c.300
 I  G  L  H  S  A  P  R  F  L  V  A  F  A  Y  W  N  H  Y  L         p.100

          .         .         .         .         .         .       g.31354
 AGCTGCACCTCCCCGTGTTCCTGCTATCGCCCGCTCTGCCGCCTCAACTTCGGCCTCAAT       c.360
 S  C  T  S  P  C  S  C  Y  R  P  L  C  R  L  N  F  G  L  N         p.120

          .         .         .         .         .         | 04    g.31548
 GTCGTGGAGAACCTCGCGTTGCTAGTGCTCACTTATGTCTCCTCCTCCGAGGACTTCA | CC    c.420
 V  V  E  N  L  A  L  L  V  L  T  Y  V  S  S  S  E  D  F  T |       p.140

          .         .         .         .         .         .       g.31608
 ATCCACGAAAATGCTTTCATTGTGTTCATTGCCTCATCCCTCGGGCACATGCTCCTCACC       c.480
 I  H  E  N  A  F  I  V  F  I  A  S  S  L  G  H  M  L  L  T         p.160

          .         .         .         .      | 05  .         .    g.32311
 TGCATTCTCTGGCGGTTGACCAAGAAGCACACAGTAAGTCAGGAG | GATCGCAAGTCCTAC    c.540
 C  I  L  W  R  L  T  K  K  H  T  V  S  Q  E   | D  R  K  S  Y      p.180

          .         .         .         .         .         .       g.32371
 AGCTGGAAACAGCGGCTCTTCATCATCAACTTCATCTCCTTCTTCTCGGCGCTGGCTGTC       c.600
 S  W  K  Q  R  L  F  I  I  N  F  I  S  F  F  S  A  L  A  V         p.200

          .         .         .     | 06   .         .         .    g.32630
 TACTTTCGGCACAACATGTATTGTGAGGCTGGAG | TGTACACCATCTTTGCCATCCTGGAG    c.660
 Y  F  R  H  N  M  Y  C  E  A  G  V |   Y  T  I  F  A  I  L  E      p.220

          .         .         .         .         .         .       g.32690
 TACACTGTTGTCTTAACCAACATGGCGTTCCACATGACGGCCTGGTGGGACTTCGGGAAC       c.720
 Y  T  V  V  L  T  N  M  A  F  H  M  T  A  W  W  D  F  G  N         p.240

          .         .         .         .                           g.32735
 AAGGAGCTGCTCATAACCTCTCAGCCTGAGGAAAAGCGATTCTGA                      c.765
 K  E  L  L  I  T  S  Q  P  E  E  K  R  F  X                        p.254

          .         .         .         .         .         .       g.32795
 acccttcagtcctgcttgggaggacgcagcccactgcccagaaacaagaaacacgatacc       c.*60

          .         .         .         .         .         .       g.32855
 attctggccttccccaccccacatcctctcttggccttactgaagatgggggaagggtaa       c.*120

          .         .         .         .         .         .       g.32915
 gaaggaagggtgtaggccaaggctcaccccagtgctgctggcttctcctctccacccctc       c.*180

          .         .         .         .         .         .       g.32975
 atatgggcgtggggtcctcaaacatcacctttacctgagaggccccaagaagctgagctg       c.*240

          .         .         .         .         .         .       g.33035
 gcagagagctccaccatttggtgctaaaaaaaaaaacgtcctgaggttcatgaccaccat       c.*300

          .         .         .         .         .         .       g.33095
 ccagtttctggcctttacacagtcacctttcactgaggtcaggagcccctgagcagtggc       c.*360

          .         .         .         .         .         .       g.33155
 tgctccctgacaaccacagccatttctctgcacgggggtcattcataggactaatgtatt       c.*420

          .         .         .         .         .         .       g.33215
 tcatgatctactgtgcacatccaggcctgtggccacagtcccctgctaaagttgctcagg       c.*480

          .         .         .         .         .         .       g.33275
 tgttctagtcctgacttcacctttttgatttggtgtgtgccctagggtatgtacccttcc       c.*540

          .         .         .         .         .         .       g.33335
 ccatctgagcctcggtgtgtccatgtgtctggcgggggatgggtggactgtatgatttcc       c.*600

          .         .         .         .         .         .       g.33395
 aaggactctaccagtcagtggttctgatgtcatcgggtggaggtggtgttctatacctaa       c.*660

          .         .         .         .         .         .       g.33455
 aggatgacctgctccagaaacagcaccagcacagcatgtattttcttctcttctgaaagt       c.*720

          .         .         .         .         .         .       g.33515
 tctggcttgtagacccctcccctcctttgcaaaggtatgggatagaggggtcagatgcag       c.*780

          .         .         .         .         .         .       g.33575
 atctctactgtaaaatgggctccctggtatctcctgtcttccctactgctccaaacccta       c.*840

          .         .         .         .         .         .       g.33635
 aattttggttgtacattttatttgaaaggaaaataaattttttttttgggccaacagttg       c.*900

          .                                                         g.33648
 cctaggcttgcta                                                      c.*913

 (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 Post-GPI attachment to proteins 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.