wingless-type MMTV integration site family, member 2B (WNT2B) - coding DNA reference sequence

(used for variant description)

(last modified October 21, 2020)

This file was created to facilitate the description of sequence variants on transcript NM_004185.3 in the WNT2B gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_052953.1, covering WNT2B transcript NM_004185.3.

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

 (upstream sequence)
 .         .         .         .         .         .                g.5060
 aaaccctgaagagcccaagcaatgtggttgtaaaatttgcaaaataagattaaatcttaa       c.-61

 .         .         .         .         .         .                g.5120
 ctgcaatctgttaacactgctgtctcctttcactctttctcctatatcacactttcccac       c.-1

          .         .         .         .         .     | 02   .    g.28599
 ATGTTGGATGGCCTTGGAGTGGTAGCCATAAGCATTTTTGGAATTCAACTAAAA | ACTGAA    c.60
 M  L  D  G  L  G  V  V  A  I  S  I  F  G  I  Q  L  K   | T  E      p.20

          .         .         .         .         .         .       g.28659
 GGATCCTTGAGGACGGCAGTACCTGGCATACCTACACAGTCAGCGTTCAACAAGTGTTTG       c.120
 G  S  L  R  T  A  V  P  G  I  P  T  Q  S  A  F  N  K  C  L         p.40

       | 03  .         .         .         .         .         .    g.52511
 CAAAG | GTACATTGGGGCACTGGGGGCACGAGTGATCTGTGACAATATCCCTGGTTTGGTG    c.180
 Q  R  |  Y  I  G  A  L  G  A  R  V  I  C  D  N  I  P  G  L  V      p.60

          .         .         .         .         .         .       g.52571
 AGCCGGCAGCGGCAGCTGTGCCAGCGTTACCCAGACATCATGCGTTCAGTGGGCGAGGGT       c.240
 S  R  Q  R  Q  L  C  Q  R  Y  P  D  I  M  R  S  V  G  E  G         p.80

          .         .         .         .         .         .       g.52631
 GCCCGAGAATGGATCCGAGAGTGTCAGCACCAATTCCGCCACCACCGCTGGAACTGTACC       c.300
 A  R  E  W  I  R  E  C  Q  H  Q  F  R  H  H  R  W  N  C  T         p.100

          .         .         .         .       | 04 .         .    g.53736
 ACCCTGGACCGGGACCACACCGTCTTTGGCCGTGTCATGCTCAGAA | GTAGCCGAGAGGCA    c.360
 T  L  D  R  D  H  T  V  F  G  R  V  M  L  R  S |   S  R  E  A      p.120

          .         .         .         .         .         .       g.53796
 GCTTTTGTATATGCCATCTCATCAGCAGGGGTAGTCCACGCTATTACTCGCGCCTGTAGC       c.420
 A  F  V  Y  A  I  S  S  A  G  V  V  H  A  I  T  R  A  C  S         p.140

          .         .         .         .         .         .       g.53856
 CAGGGTGAACTGAGTGTGTGCAGCTGTGACCCCTACACCCGTGGCCGACACCATGACCAG       c.480
 Q  G  E  L  S  V  C  S  C  D  P  Y  T  R  G  R  H  H  D  Q         p.160

          .         .         .         .         .         .       g.53916
 CGTGGGGACTTTGACTGGGGTGGCTGCAGTGACAACATCCACTACGGTGTCCGTTTTGCC       c.540
 R  G  D  F  D  W  G  G  C  S  D  N  I  H  Y  G  V  R  F  A         p.180

          .         .         .         .         .         .       g.53976
 AAGGCCTTCGTGGATGCCAAGGAGAAGAGGCTTAAGGATGCCCGGGCCCTCATGAACTTA       c.600
 K  A  F  V  D  A  K  E  K  R  L  K  D  A  R  A  L  M  N  L         p.200

          .         .     | 05   .         .         .         .    g.54739
 CATAATAACCGCTGTGGTCGCACG | GCTGTGCGGCGGTTTCTGAAGCTGGAGTGTAAGTGC    c.660
 H  N  N  R  C  G  R  T   | A  V  R  R  F  L  K  L  E  C  K  C      p.220

          .         .         .         .         .         .       g.54799
 CATGGCGTGAGTGGTTCCTGTACTCTGCGCACCTGCTGGCGTGCACTCTCAGATTTCCGC       c.720
 H  G  V  S  G  S  C  T  L  R  T  C  W  R  A  L  S  D  F  R         p.240

          .         .         .         .         .         .       g.54859
 CGCACAGGTGATTACCTGCGGCGACGCTATGATGGGGCTGTGCAGGTGATGGCCACCCAA       c.780
 R  T  G  D  Y  L  R  R  R  Y  D  G  A  V  Q  V  M  A  T  Q         p.260

          .         .         .         .         .         .       g.54919
 GATGGTGCCAACTTCACCGCAGCCCGCCAAGGCTATCGCCGTGCCACCCGGACTGATCTT       c.840
 D  G  A  N  F  T  A  A  R  Q  G  Y  R  R  A  T  R  T  D  L         p.280

          .         .         .         .          | 06        .    g.57873
 GTCTACTTTGACAACTCTCCAGATTACTGTGTCTTGGACAAGGCTGCAG | GTTCCCTAGGC    c.900
 V  Y  F  D  N  S  P  D  Y  C  V  L  D  K  A  A  G |   S  L  G      p.300

          .         .         .         .         .         .       g.57933
 ACTGCAGGCCGTGTCTGCAGCAAGACATCAAAAGGAACAGACGGTTGTGAAATCATGTGC       c.960
 T  A  G  R  V  C  S  K  T  S  K  G  T  D  G  C  E  I  M  C         p.320

          .         .         .         .         .         .       g.57993
 TGTGGCCGAGGGTACGACACAACTCGAGTCACCCGTGTTACCCAGTGTGAGTGCAAATTC       c.1020
 C  G  R  G  Y  D  T  T  R  V  T  R  V  T  Q  C  E  C  K  F         p.340

          .         .         .         .         .         .       g.58053
 CACTGGTGCTGTGCTGTACGGTGCAAGGAATGCAGAAATACTGTGGACGTCCATACTTGC       c.1080
 H  W  C  C  A  V  R  C  K  E  C  R  N  T  V  D  V  H  T  C         p.360

          .         .         .                                     g.58092
 AAAGCCCCCAAGAAGGCAGAGTGGCTGGACCAAACCTGA                            c.1119
 K  A  P  K  K  A  E  W  L  D  Q  T  X                              p.372

          .         .         .         .         .         .       g.58152
 acacacagatacctcactcatccctccaattcaagcctctcaactcaaaagcacaagatc       c.*60

          .         .         .         .         .         .       g.58212
 cttgcatgcacaccttcctccaccctccaccctgggctgctaccgcttctatttaaggat       c.*120

          .         .         .         .         .         .       g.58272
 gtagagagtaatccatagggaccatggtgtcctggctggttccttagccctgggaaggag       c.*180

          .         .         .         .         .         .       g.58332
 ttgtcaggggatataagaaactgagcaagctccctgatttcccgctctggagatttgaag       c.*240

          .         .         .         .         .         .       g.58392
 ggagagtagaagagatagggggtctttagagtgaaatgagttgcactaaagtacgtagtt       c.*300

          .         .         .         .         .         .       g.58452
 gaggctccttttttctttcctttgcaccagcttcccgatacttcttggtgtgcaagagga       c.*360

          .         .         .         .         .         .       g.58512
 agggtacctgtagagagcttctttttgtttctacctggccaaagttagatgggacaaaga       c.*420

          .         .         .         .         .         .       g.58572
 tgaatggcatgtcccttctctgaagtccgtttgagcagaactacctggtaccccgaaaga       c.*480

          .         .         .         .         .         .       g.58632
 aaatcttaggctaccacattctattattgagagcctgagatgttagccatagtggacaag       c.*540

          .         .         .         .         .         .       g.58692
 gttccattcacatgctcatatgtttataaactgtgttttgtagaagaaaaagaatcataa       c.*600

          .         .         .         .         .         .       g.58752
 caatacaaacacacattcattctctctttttctctctaccattctcaacctgtattggac       c.*660

          .         .         .         .         .         .       g.58812
 agcactgcctcttttgcttacttgctgcctgttcaaactgaggtggaatgcagtggttcc       c.*720

          .         .         .         .         .                 g.58871
 catgcttaacaaatcattaaaacaccctagaacactcctaggatagattaatgtagtaa        c.*779

 (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 Wingless-type MMTV integration site family, member 2B 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.