melanoma antigen family B, 2 (MAGEB2) - coding DNA reference sequence

(used for variant description)

(last modified October 12, 2018)

This file was created to facilitate the description of sequence variants on transcript NM_002364.4 in the MAGEB2 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_013246.1, covering MAGEB2 transcript NM_002364.4.

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

 (upstream sequence)
                     .         .         .         .                g.5043
                  tcctgacttccgctttggaggcgaggacccgagcgagtgtagg       c.-61

 .         .         .         .         .         .     | 02       g.8023
 gggtgcggcgtctggtcagccaggggtgaattctcaggactggtcggcagtcaag | ccatc    c.-1

          .         .         .         .         .         .       g.8083
 ATGCCTCGTGGTCAGAAGAGTAAGCTCCGTGCCCGTGAGAAACGCCGCAAGGCCCGAGAT       c.60
 M  P  R  G  Q  K  S  K  L  R  A  R  E  K  R  R  K  A  R  D         p.20

          .         .         .         .         .         .       g.8143
 GAGACCCGGGGTCTCAATGTTCCTCAGGTCACTGAAGCAGAGGAAGAAGAGGCCCCCTGC       c.120
 E  T  R  G  L  N  V  P  Q  V  T  E  A  E  E  E  E  A  P  C         p.40

          .         .         .         .         .         .       g.8203
 TGTTCCTCTTCTGTTTCTGGGGGTGCTGCTTCAAGCTCTCCTGCTGCTGGCATTCCCCAG       c.180
 C  S  S  S  V  S  G  G  A  A  S  S  S  P  A  A  G  I  P  Q         p.60

          .         .         .         .         .         .       g.8263
 GAGCCTCAGAGAGCCCCAACCACTGCCGCTGCTGCGGCTGCGGGTGTTTCATCCACAAAA       c.240
 E  P  Q  R  A  P  T  T  A  A  A  A  A  A  G  V  S  S  T  K         p.80

          .         .         .         .         .         .       g.8323
 TCTAAAAAAGGTGCCAAGAGCCACCAAGGTGAGAAAAATGCAAGTTCCTCCCAGGCCTCA       c.300
 S  K  K  G  A  K  S  H  Q  G  E  K  N  A  S  S  S  Q  A  S         p.100

          .         .         .         .         .         .       g.8383
 ACATCCACTAAGAGCCCAAGCGAAGATCCTCTAACCAGGAAGTCAGGGTCGTTGGTGCAG       c.360
 T  S  T  K  S  P  S  E  D  P  L  T  R  K  S  G  S  L  V  Q         p.120

          .         .         .         .         .         .       g.8443
 TTCCTGTTGTACAAGTATAAAATAAAAAAGTCCGTTACAAAGGGAGAAATGCTGAAAATT       c.420
 F  L  L  Y  K  Y  K  I  K  K  S  V  T  K  G  E  M  L  K  I         p.140

          .         .         .         .         .         .       g.8503
 GTTGGCAAAAGGTTCAGGGAGCACTTCCCTGAGATCCTCAAGAAAGCCTCTGAGGGCCTC       c.480
 V  G  K  R  F  R  E  H  F  P  E  I  L  K  K  A  S  E  G  L         p.160

          .         .         .         .         .         .       g.8563
 AGTGTTGTCTTTGGCCTTGAGCTGAATAAAGTCAACCCCAACGGCCACACTTACACCTTC       c.540
 S  V  V  F  G  L  E  L  N  K  V  N  P  N  G  H  T  Y  T  F         p.180

          .         .         .         .         .         .       g.8623
 ATCGACAAGGTAGACCTCACTGATGAGGAATCCCTGCTCAGTTCCTGGGACTTTCCCAGG       c.600
 I  D  K  V  D  L  T  D  E  E  S  L  L  S  S  W  D  F  P  R         p.200

          .         .         .         .         .         .       g.8683
 AGAAAGCTTCTGATGCCTCTCCTGGGTGTGATCTTCTTAAATGGCAACTCAGCTACTGAG       c.660
 R  K  L  L  M  P  L  L  G  V  I  F  L  N  G  N  S  A  T  E         p.220

          .         .         .         .         .         .       g.8743
 GAAGAGATCTGGGAATTCCTGAATATGTTGGGAGTCTATGATGGAGAGGAGCACTCAGTC       c.720
 E  E  I  W  E  F  L  N  M  L  G  V  Y  D  G  E  E  H  S  V         p.240

          .         .         .         .         .         .       g.8803
 TTTGGGGAACCCTGGAAGCTCATCACCAAAGATCTGGTGCAGGAAAAATATCTGGAGTAC       c.780
 F  G  E  P  W  K  L  I  T  K  D  L  V  Q  E  K  Y  L  E  Y         p.260

          .         .         .         .         .         .       g.8863
 AAGCAGGTGCCCAGCAGTGATCCCCCACGCTTTCAATTCCTGTGGGGTCCGAGAGCCTAT       c.840
 K  Q  V  P  S  S  D  P  P  R  F  Q  F  L  W  G  P  R  A  Y         p.280

          .         .         .         .         .         .       g.8923
 GCTGAAACCAGCAAGATGAAAGTCCTGGAGTTTTTGGCCAAGGTAAATGGTACCACCCCC       c.900
 A  E  T  S  K  M  K  V  L  E  F  L  A  K  V  N  G  T  T  P         p.300

          .         .         .         .         .         .       g.8983
 TGTGCCTTCCCAACCCATTACGAAGAAGCTTTGAAAGATGAAGAGAAAGCCGGAGTCTGA       c.960
 C  A  F  P  T  H  Y  E  E  A  L  K  D  E  E  K  A  G  V  X         p.319

          .         .         .         .         .         .       g.9043
 gccagagttgtagccaggccttgcactactgccatagccaatcaatctcccaaagccaag       c.*60

          .         .         .         .         .         .       g.9103
 tttacctgctgttctcacccccaatgaggtcttaggcagattctttactttgtaattcaa       c.*120

          .         .         .         .         .         .       g.9163
 aaggcctgttaacctttgttcttgttatgcatgaataacttgttgactttttttttttct       c.*180

          .         .         .         .         .         .       g.9223
 ctttttcaactagtgtttcaacaggtttatttagattcagaatgtaaatttacaaatgat       c.*240

          .         .         .         .         .         .       g.9283
 atagatcaccctgttattgctgtttttcagggacagtagaaagtgttttgttttttgagt       c.*300

          .         .         .         .         .         .       g.9343
 gaaacaacttattaataaaaatccttaaatcacttttgtaatccaggacaagaaaatgtg       c.*360

          .         .         .         .         .         .       g.9403
 gcattagagtagaaatatctttggaaatgtgaaagaccccatagtgaaatatttgggatc       c.*420

          .         .         .         .         .         .       g.9463
 agaagccagaggtgtaaaagtggtcaattcttggtttacttcatttaatctttcttttca       c.*480

          .         .         .         .         .         .       g.9523
 taaagatacatacctggatttgtttatgttattcaagaatgtgtgagaaattaaaccata       c.*540

                                                                    g.9532
 gttagttaa                                                          c.*549

 (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 Melanoma antigen family B, 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.