general transcription factor IIE, polypeptide 2, beta 34kDa (GTF2E2) - coding DNA reference sequence

(used for variant description)

(last modified September 10, 2015)

This file was created to facilitate the description of sequence variants on transcript NM_002095.4 in the GTF2E2 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000008.10, covering GTF2E2 transcript NM_002095.4.

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

 (upstream sequence)
                                                   .                g.5013
                                                cccgatcgggaag       c.-241

 .         .         .         .         .         .                g.5073
 tggcgggcggagtcccgggtccagtcgccgcctcagctaccgccgctgccgccgccgccg       c.-181

 .         .         .         .         .         .                g.5133
 ccgccaccgccagtggtgagaccccgacctggcgggtcagcgctgggcgtgcgtgcgggc       c.-121

 .         .         .         .         .         .                g.5193
 aggcgggggcgctgacgagaagcaggaagagggtgcagtgccggcgtgggcggccggccg       c.-61

 .         .         .         .         .         .      | 02      g.9623
 aggcggaggcgcaggaagggggcggcgagtcgtgcgaggctgcccttctcactcag | catt    c.-1

          .         .         .         .         .         .       g.9683
 ATGGATCCAAGCCTGTTGAGAGAAAGGGAGCTGTTCAAAAAACGAGCTCTTTCTACTCCT       c.60
 M  D  P  S  L  L  R  E  R  E  L  F  K  K  R  A  L  S  T  P         p.20

          .         .         .         .         .         .       g.9743
 GTAGTAGAAAAACGTTCAGCATCTTCTGAGTCATCATCATCATCGTCAAAGAAGAAGAAA       c.120
 V  V  E  K  R  S  A  S  S  E  S  S  S  S  S  S  K  K  K  K         p.40

          .         .         .         .       | 03 .         .    g.28112
 ACAAAGGTAGAACATGGAGGATCGTCAGGCTCTAAACAAAATTCTG | ATCATAGCAATGGA    c.180
 T  K  V  E  H  G  G  S  S  G  S  K  Q  N  S  D |   H  S  N  G      p.60

          .         .         .         .         .         .       g.28172
 TCATTTAACTTGAAAGCTTTGTCAGGAAGCTCTGGATATAAGTTTGGTGTTCTTGCTAAG       c.240
 S  F  N  L  K  A  L  S  G  S  S  G  Y  K  F  G  V  L  A  K         p.80

          .         | 04         .         .         .         .    g.48548
 ATTGTGAATTACATGAAG | ACACGGCATCAGCGAGGAGATACGCATCCTCTAACCTTAGAT    c.300
 I  V  N  Y  M  K   | T  R  H  Q  R  G  D  T  H  P  L  T  L  D      p.100

          .         .         .         .         .         .       g.48608
 GAAATTTTGGATGAAACACAACATTTAGATATTGGACTCAAGCAGAAACAATGGCTAATG       c.360
 E  I  L  D  E  T  Q  H  L  D  I  G  L  K  Q  K  Q  W  L  M         p.120

        | 05 .         .         .         .         .         .    g.50794
 ACTGAG | GCTTTAGTCAACAATCCCAAAATTGAAGTAATAGATGGGAAGTATGCTTTCAAG    c.420
 T  E   | A  L  V  N  N  P  K  I  E  V  I  D  G  K  Y  A  F  K      p.140

          .         .         .         .         .         .       g.50854
 CCCAAGTACAACGTGAGAGATAAGAAGGCCCTACTTAGGCTCTTAGATCAGCATGACCAG       c.480
 P  K  Y  N  V  R  D  K  K  A  L  L  R  L  L  D  Q  H  D  Q         p.160

          .         .         .         .         .         .       g.50914
 CGAGGATTAGGAGGAATTCTTTTAGAAGACATAGAAGAAGCACTGCCCAATTCCCAGAAA       c.540
 R  G  L  G  G  I  L  L  E  D  I  E  E  A  L  P  N  S  Q  K         p.180

           | 06        .         .         .         .         .    g.56122
 GCTGTCAAG | GCTTTGGGGGACCAGATACTATTTGTAAATCGTCCCGATAAGAAGAAAATA    c.600
 A  V  K   | A  L  G  D  Q  I  L  F  V  N  R  P  D  K  K  K  I      p.200

          .         .         .         .    | 07    .         .    g.82842
 CTTTTCTTCAATGATAAGAGCTGTCAGTTTTCTGTGGATGAAG | AATTTCAGAAACTGTGG    c.660
 L  F  F  N  D  K  S  C  Q  F  S  V  D  E  E |   F  Q  K  L  W      p.220

          .         .         .         .         .         .       g.82902
 AGGAGTGTCACTGTAGATTCCATGGACGAGGAGAAAATTGAAGAATATCTGAAGCGACAG       c.720
 R  S  V  T  V  D  S  M  D  E  E  K  I  E  E  Y  L  K  R  Q         p.240

          .         .         .          | 08        .         .    g.84205
 GGTATTTCTTCCATGCAGGAATCTGGACCAAAGAAAGTG | GCCCCTATTCAGAGAAGGAAA    c.780
 G  I  S  S  M  Q  E  S  G  P  K  K  V   | A  P  I  Q  R  R  K      p.260

          .         .         .         .         .         .       g.84265
 AAGCCTGCTTCACAGAAAAAGCGACGCTTTAAGACTCATAACGAACACTTGGCTGGAGTG       c.840
 K  P  A  S  Q  K  K  R  R  F  K  T  H  N  E  H  L  A  G  V         p.280

          .         .         .                                     g.84301
 CTGAAGGATTACTCTGACATTACTTCCAGCAAATAG                               c.876
 L  K  D  Y  S  D  I  T  S  S  K  X                                 p.291

          .         .         .         .         .         .       g.84361
 ggaacagttttgccctggaacagagttacagatacacaatcaagagtgttcttgctgatg       c.*60

          .         .         .         .         .         .       g.84421
 ctcggggtctgaagactgtcttcctatctgcttcttgcggctgaggagaggagcagttca       c.*120

          .         .         .         .         .         .       g.84481
 gtttacaaaacaagtgcaaattaccaaactcaaagcttatttgagtagaatgggctcatg       c.*180

          .         .         .         .         .         .       g.84541
 ggcaatgtgatgttccctgttaaccttctgttactccctgggagaaaggcgctgagcgtg       c.*240

          .         .         .         .         .         .       g.84601
 gcatgcaggtgtctttgctgtgtttttctccacttctaaatggttcctggttcctttctt       c.*300

          .         .         .         .         .         .       g.84661
 cctcgtttgttactttagagcaagtttgcccatagtcttgaatgcaatatttgtttattc       c.*360

          .         .         .         .                           g.84708
 caaaagaacatatttataataaaatcactgtagaaggatttttaaga                    c.*407

 (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 General transcription factor IIE, polypeptide 2, beta 34kDa 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.