epithelial membrane protein 2 (EMP2) - coding DNA reference sequence

(used for variant description)

(last modified June 6, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_001424.4 in the EMP2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000016.9, covering EMP2 transcript NM_001424.4.
Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                                                   .                g.5014
                                               gaggggccccgccg       c.-181

 .         .         .         .         .         .                g.5074
 cctagagggtggagggagggcgcgcagtcccagcccagagcttcaaaacagcccggcggc       c.-121

 .         .         .         .         .         .                g.5134
 ctcgcctcgcacccccagccagtccgtcgatccagctgccagcgcagccgccagcgccgg       c.-61

  | 02        .         .         .         .         .             g.38065
  | cacatcccgctctgggctttaaacgtgacccctcgcctcgactcgccctgccctgtgaaa    c.-1

          .         .         .         .         .         .       g.38125
 ATGTTGGTGCTTCTTGCTTTCATCATCGCCTTCCACATCACCTCTGCAGCCTTGCTGTTC       c.60
 M  L  V  L  L  A  F  I  I  A  F  H  I  T  S  A  A  L  L  F         p.20

          .         | 03         .         .         .         .    g.42064
 ATTGCCACCGTCGACAAT | GCCTGGTGGGTAGGAGATGAGTTTTTTGCAGATGTCTGGAGA    c.120
 I  A  T  V  D  N   | A  W  W  V  G  D  E  F  F  A  D  V  W  R      p.40

          .         .         .         .          | 04        .    g.47619
 ATATGTACCAACAACACGAATTGCACAGTCATCAATGACAGCTTTCAAG | AGTACTCCACG    c.180
 I  C  T  N  N  T  N  C  T  V  I  N  D  S  F  Q  E |   Y  S  T      p.60

          .         .         .         .         .         .       g.47679
 CTGCAGGCGGTCCAGGCCACCATGATCCTCTCCACCATTCTCTGCTGCATCGCCTTCTTC       c.240
 L  Q  A  V  Q  A  T  M  I  L  S  T  I  L  C  C  I  A  F  F         p.80

          .         .         .         .         .         .       g.47739
 ATCTTCGTGCTCCAGCTCTTCCGCCTGAAGCAGGGAGAGAGGTTTGTCCTAACCTCCATC       c.300
 I  F  V  L  Q  L  F  R  L  K  Q  G  E  R  F  V  L  T  S  I         p.100

          .       | 05 .         .         .         .         .    g.52634
 ATCCAGCTAATGTCAT | GTCTGTGTGTCATGATTGCGGCCTCCATTTATACAGACAGGCGT    c.360
 I  Q  L  M  S  C |   L  C  V  M  I  A  A  S  I  Y  T  D  R  R      p.120

          .         .         .         .         .         .       g.52694
 GAAGACATTCACGACAAAAACGCGAAATTCTATCCCGTGACCAGAGAAGGCAGCTACGGC       c.420
 E  D  I  H  D  K  N  A  K  F  Y  P  V  T  R  E  G  S  Y  G         p.140

          .         .         .         .         .         .       g.52754
 TACTCCTACATCCTGGCGTGGGTGGCCTTCGCCTGCACCTTCATCAGCGGCATGATGTAC       c.480
 Y  S  Y  I  L  A  W  V  A  F  A  C  T  F  I  S  G  M  M  Y         p.160

          .         .                                               g.52778
 CTGATACTGAGGAAGCGCAAATAG                                           c.504
 L  I  L  R  K  R  K  X                                             p.167

          .         .         .         .         .         .       g.52838
 agttccggagctgggttgcttctgctgcagtacagaatccacattcagataaccattttg       c.*60

          .         .         .         .         .         .       g.52898
 tatataatcattattttttgaggtttttctagcaaacgtattgtttcctttaaaagccaa       c.*120

          .         .         .         .         .         .       g.52958
 aaaaaaaaaaaaaaaaaaaaaaaaaagaaaaaagaaaaaaaaaatccaaaagagagaaga       c.*180

          .         .         .         .         .         .       g.53018
 gtttttgcattcttgagatcagagaatagactatgaaggctggtattcagaactgctgcc       c.*240

          .         .         .         .         .         .       g.53078
 cactcaaaagtctcaacaagacacaagcaaaaatccagcaatgctcaaatccaaaagcac       c.*300

          .         .         .         .         .         .       g.53138
 tcggcaggacatttcttaaccatggggctgtgatgggaggagaggagaggctgggaaagc       c.*360

          .         .         .         .         .         .       g.53198
 cgggtctctggggacgtgcttcctatgggtttcagctggcccaagcccctcccgaatctc       c.*420

          .         .         .         .         .         .       g.53258
 tctgctagtggtgggtggaagagggtgaggtggggtataggagaagaatgacagcttcct       c.*480

          .         .         .         .         .         .       g.53318
 gagaggtttcacccaagttccaagtgagaagcaggtgtagtccctggcattctgtctgta       c.*540

          .         .         .         .         .         .       g.53378
 tccaaaccagagcccagccatccctccggtatcggggtgggtcagaaaaagtctcacctc       c.*600

          .         .         .         .         .         .       g.53438
 aatttgccgacagtgtcacctgcttgccttaggaatggtcatccttaacctgcgtgccag       c.*660

          .         .         .         .         .         .       g.53498
 atttagactcgtctttaggcaaaacctacagcgccccccccctcaccccagacctacaga       c.*720

          .         .         .         .         .         .       g.53558
 atcagagtcttcaagggatggggccagggaatctgcatttctaacgcgctccctgggcaa       c.*780

          .         .         .         .         .         .       g.53618
 cgcttcagatgcgttgaagttggggaccacggtgcctgggccaggtcagcagagctgcct       c.*840

          .         .         .         .         .         .       g.53678
 cgtaaatgctggggtatcgtcatgtggagatggggaggtgaatgcaacccccacagcagg       c.*900

          .         .         .         .         .         .       g.53738
 ccaaaaccttggcctccatcgccacagctgtctacatctagggccccaaaactccattcc       c.*960

          .         .         .         .         .         .       g.53798
 tgagccatgtgaactcatagacaccttcagggtgtggggtacagcctccttcccatctta       c.*1020

          .         .         .         .         .         .       g.53858
 tcccagaaggcctctcccttcttgtccagcccttcatgctacacctggctggcctctcac       c.*1080

          .         .         .         .         .         .       g.53918
 ccctatttctagagcctcagaggacccatccaccattcattcattcattcattcattcat       c.*1140

          .         .         .         .         .         .       g.53978
 tcattcattcattcatcaacataaatcataacttgcatgcatgtgccaggcacaggggat       c.*1200

          .         .         .         .         .         .       g.54038
 accctctagagacaatctcctcctagggctcatggcctagtggaggagacagattaaaac       c.*1260

          .         .         .         .         .         .       g.54098
 ttaattagaaaaactggctgggtacagtggctcatgcttgtaatcccagcactttgggag       c.*1320

          .         .         .         .         .         .       g.54158
 gctgaggcgggtggatcacctgaggtcaggagttcaagaccagcctggccaaaatggtaa       c.*1380

          .         .         .         .         .         .       g.54218
 aacctgtctctactaaaaatacaaaaatgagctgggcgtggtggtgcatgcctgtaatcc       c.*1440

          .         .         .         .         .         .       g.54278
 cagctatcaggtggctgaggcaggagaatcacttgaaatgggaggtggaggttgcagtga       c.*1500

          .         .         .         .         .         .       g.54338
 gccgagaccgtgccactgcactccagcctgggtgacagagtgagactccatctcaaaaaa       c.*1560

          .         .         .         .         .         .       g.54398
 agaaaaaaaagaaaagaaactaattacacactgtgatggaggctgcaaagaacaccacta       c.*1620

          .         .         .         .         .         .       g.54458
 agaattcaaaatcagctgggtgcggtggctcacacctgtaatcccagcactttgggaggc       c.*1680

          .         .         .         .         .         .       g.54518
 tgaggcaggtggatcacaaggtcaggagttcaagaccagcctggccaacatggtgaaacc       c.*1740

          .         .         .         .         .         .       g.54578
 ccgtctctaccgaaaatacaacaaaattagcccggtgtggtggcaggtgcctgtaatccc       c.*1800

          .         .         .         .         .         .       g.54638
 agctacttaggaggctgaggcaggagaatcgcttgaaactgggaggcggaggtcgcagtg       c.*1860

          .         .         .         .         .         .       g.54698
 agccgagattcaccactgcactccagcccaggcgacagtctgagactccgtctcaaaaat       c.*1920

          .         .         .         .         .         .       g.54758
 aaaacgattcaaaatcgaggcctgtggcatggtagggaggctgctttacgcgtgcctatt       c.*1980

          .         .         .         .         .         .       g.54818
 attaaatgctcctggaggcatttaggtatttagatcagtctaaatatagctccattcagt       c.*2040

          .         .         .         .         .         .       g.54878
 tcgtgcagatgacagttattgggcagtacctgtctgtgtaacacccagaaaacatgtctg       c.*2100

          .         .         .         .         .         .       g.54938
 tggaggggcccatggtcccgacagtaaatgcggtgagagggtcccatagagctggagttt       c.*2160

          .         .         .         .         .         .       g.54998
 tcaagctttaggggttcccgtgctgcttgggacaggctgattcagagggtctgggtgaat       c.*2220

          .         .         .         .         .         .       g.55058
 gatttccaggtgattttaagactgtgctgagaaatagggcttttggggccttgtccttca       c.*2280

          .         .         .         .         .         .       g.55118
 ggatcaaagcatgatgctgtgtggcaatgcagaccacccaggaaccatcccaggagataa       c.*2340

          .         .         .         .         .         .       g.55178
 gctctttgcacctcattgtctttttctgcttatgttggagcaggatgctgggggctgtcc       c.*2400

          .         .         .         .         .         .       g.55238
 tgggatggggtgtgggacctcgtgctatttaaatacttttgcacttgaccttctgctgag       c.*2460

          .         .         .         .         .         .       g.55298
 tggagtggtggtttgccatcagctcagttccagtggagctgaagagacatctggtttgag       c.*2520

          .         .         .         .         .         .       g.55358
 tagttttagggccaccatggatatctcttcaatgcaggattggctctttccatctgctct       c.*2580

          .         .         .         .         .         .       g.55418
 ttcattcatttgtttttgacagatagtattaaatgtttaccatgttccaggcactgtgtg       c.*2640

          .         .         .         .         .         .       g.55478
 aggctctgaaaatacaggggtgagcaaatccagatatcctccctgccatcatgaagtttg       c.*2700

          .         .         .         .         .         .       g.55538
 gagtctatgagataggaccccctccctatggagaagccaccaatgcagtacagggtgacc       c.*2760

          .         .         .         .         .         .       g.55598
 tggggccagagacaggacaaatgtcacctcctgcctccatgagatactctcactagtcat       c.*2820

          .         .         .         .         .         .       g.55658
 attgtgggcaagaatgtggcttacacccctagggttaacaggatgctacccaagctcatg       c.*2880

          .         .         .         .         .         .       g.55718
 gaggaagttgaatcttaagttcccttgaaactttctaccttggtggcttttctataattt       c.*2940

          .         .         .         .         .         .       g.55778
 tcttttttctttttcttttttttttttttttttgagactgagttttgctcttgttgccca       c.*3000

          .         .         .         .         .         .       g.55838
 ggctggagtgcagtggcaccatcttggctcaccgcaacctctgcctcctgggttcaagtg       c.*3060

          .         .         .         .         .         .       g.55898
 attctcctgcctcagcctcccgagtagctgggattacaggcatgtcccaccatgcccagc       c.*3120

          .         .         .         .         .         .       g.55958
 taatttttgtatttttagtagagatggggtttctccatgttggtcaggctggtttcgaac       c.*3180

          .         .         .         .         .         .       g.56018
 tcccaacctcaggtgatccgcccacctcagccttccaaagtgctgggattacaggcatga       c.*3240

          .         .         .         .         .         .       g.56078
 gccactgcgtctggccttctataattttctggtagtcacgatggaaacaaacaaaacacc       c.*3300

          .         .         .         .         .         .       g.56138
 ttagaaccagagatcgaccccctcaagcaatacatcaattcccttcacaagaaacgtcgg       c.*3360

          .         .         .         .         .         .       g.56198
 ggctacatgagtatctgtgttgaatgcggtctgaaatgatcctatggattttcccggctg       c.*3420

          .         .         .         .         .         .       g.56258
 gttgccactgctgtacaacattcagtgcccacatccacctgtgccattaagcttttttga       c.*3480

          .         .         .         .         .         .       g.56318
 gacatgagagatgcctcttccctgctgtatgacatgcatttgggaagttggaaagaaatg       c.*3540

          .         .         .         .         .         .       g.56378
 acaaaatcagggagaaaacatccaagcttcttacctgtagatagaatcagccctcacttg       c.*3600

          .         .         .         .         .         .       g.56438
 gtgcttattaccagttattcaagaacaataacaacaacaaaattagtagacatccaagaa       c.*3660

          .         .         .         .         .         .       g.56498
 gcacatattaggaccaaagatagcatcaactgtatttgaaggaactgtagtttgcgcatt       c.*3720

          .         .         .         .         .         .       g.56558
 ttatgacatttttataaagtactgtaattctttcattgaggggctatgtgatggagacag       c.*3780

          .         .         .         .         .         .       g.56618
 actaactcattttgttatttgcattaaaattattttgggtctctgttcaaatgagtttgg       c.*3840

          .         .         .         .         .         .       g.56678
 agaatgcttgacttgttggtctgtgtgaatgtgtatatatatatacctgaatacaggaac       c.*3900

          .         .         .         .         .         .       g.56738
 atcggagacctattcactcccacacactctgctatagtttgcgtgcttttgtggacaccc       c.*3960

          .         .         .         .         .         .       g.56798
 ctcatgaacaggctggcgctctaggacgctctgtgttcactgatgatgaagaaacctaga       c.*4020

          .         .         .         .         .         .       g.56858
 actccaagcctgtttgtaaacacactaaacacagtggcctagatagaaactgtatcgtag       c.*4080

          .         .         .         .         .         .       g.56918
 tttaaaatctgcctcgcgggatgttactaaactcgctaatagtttaaaggttacttacaa       c.*4140

          .         .         .         .         .         .       g.56978
 tagagcaagttggacaattttgtggtgttggggaaatgttagggcaaggcctagaggttc       c.*4200

          .         .         .         .         .         .       g.57038
 attttgaatcttggtttgtgactttagggtagttagaaactttctacttaatgtaccttt       c.*4260

          .         .         .         .         .         .       g.57098
 aaaatagtccattttctatgttttgtataatctgaaactgtacatggaaaataaagttta       c.*4320

          .         .         .         .         .         .       g.57158
 aaaccagattgcccagagcaagactctaatgttcccaacggtgatgacatctagggcaga       c.*4380

          .         .         .         .         .         .       g.57218
 atgctgccattttgaggggcagggggtcagctgatttctcatcaagataataatgtatgg       c.*4440

          .         .         .         .                           g.57261
 tttttacactaagcaactgataaatggacaatttatcactgga                        c.*4483

 (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 Epithelial membrane protein 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.