ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2) (RAC2) - coding DNA reference sequence

(used for variant description)

(last modified July 29, 2022)

This file was created to facilitate the description of sequence variants on transcript NM_002872.4 in the RAC2 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000022.10, covering RAC2 transcript NM_002872.4.

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

 (upstream sequence)
                               .         .         .                g.4997
                              agcagcttgagtaagttccccttccgtttcc       c.-121

 .         .         .         .         .         .                g.5057
 tcctgccccaccaccgctgctcctcagcaggcgcctcaccagcctccacaccccttgcgc       c.-61

 .         .         .         .         .         .                g.5117
 ccgcagaaacgcgcctggccctgagctgtcaccaccgacactctccaggctccggacacg       c.-1

          .         .         .      | 02  .         .         .    g.7632
 ATGCAGGCCATCAAGTGTGTGGTGGTGGGAGATGG | GGCCGTGGGCAAGACCTGCCTTCTC    c.60
 M  Q  A  I  K  C  V  V  V  G  D  G  |  A  V  G  K  T  C  L  L      p.20

          .         .         .         .        | 03.         .    g.16360
 ATCAGCTACACCACCAACGCCTTTCCCGGAGAGTACATCCCCACCGT | GTTTGACAACTAT    c.120
 I  S  Y  T  T  N  A  F  P  G  E  Y  I  P  T  V  |  F  D  N  Y      p.40

          .         .         .         .         .         .       g.16420
 TCAGCCAATGTGATGGTGGACAGCAAGCCAGTGAACCTGGGGCTGTGGGACACTGCTGGG       c.180
 S  A  N  V  M  V  D  S  K  P  V  N  L  G  L  W  D  T  A  G         p.60

          .         .         .         .      | 04  .         .    g.17286
 CAGGAGGACTACGACCGTCTCCGGCCGCTCTCCTATCCACAGACG | GACGTCTTCCTCATC    c.240
 Q  E  D  Y  D  R  L  R  P  L  S  Y  P  Q  T   | D  V  F  L  I      p.80

          .         .         .         .         | 05         .    g.17887
 TGCTTCTCCCTCGTCAGCCCAGCCTCTTATGAGAACGTCCGCGCCAAG | TGGTTCCCAGAA    c.300
 C  F  S  L  V  S  P  A  S  Y  E  N  V  R  A  K   | W  F  P  E      p.100

          .         .         .         .         .         .       g.17947
 GTGCGGCACCACTGCCCCAGCACACCCATCATCCTGGTGGGCACCAAGCTGGACCTGCGG       c.360
 V  R  H  H  C  P  S  T  P  I  I  L  V  G  T  K  L  D  L  R         p.120

          .         .         .         .         .         .       g.18007
 GACGACAAGGACACCATCGAGAAACTGAAGGAGAAGAAGCTGGCTCCCATCACCTACCCG       c.420
 D  D  K  D  T  I  E  K  L  K  E  K  K  L  A  P  I  T  Y  P         p.140

          .         .         | 06         .         .         .    g.22494
 CAGGGCCTGGCACTGGCCAAGGAGATTG | ACTCGGTGAAATACCTGGAGTGCTCAGCTCTC    c.480
 Q  G  L  A  L  A  K  E  I  D |   S  V  K  Y  L  E  C  S  A  L      p.160

          .         .         .         .         .         .       g.22554
 ACCCAGAGAGGCCTGAAAACCGTGTTCGACGAGGCCATCCGGGCCGTGCTGTGCCCTCAG       c.540
 T  Q  R  G  L  K  T  V  F  D  E  A  I  R  A  V  L  C  P  Q         p.180

          .         .         .                                 g.22593
 CCCACGCGGCAGCAGAAGCGCGCCTGCAGCCTCCTCTAG |                         c.580
 P  T  R  Q  Q  K  R  A  C  S  L  L  X                           p.192

    | 07     .         .         .         .         .         .    g.23284
 gg | gttgcaccccagcgctcccacctagatgggtctgatcctccaggatccccacccaaag    c.*60

          .         .         .         .         .         .       g.23344
 cctgatggcaccccggctggccatgctgtcccctccctgtggcgtttcttagcagatggc       c.*120

          .         .         .         .         .         .       g.23404
 tgcagagcttcgttgatggtcttttctgtactggaggcctcctgaggccaggaacgtgca       c.*180

          .         .         .         .         .         .       g.23464
 aatttgcaggtgctgcatcccaagcccctcatgctcctgccttcctgagggccagagggg       c.*240

          .         .         .         .         .         .       g.23524
 agccccaggacccattaagccacccccgtgttcctgccgtcagtgccaactgccgcatgt       c.*300

          .         .         .         .         .         .       g.23584
 ggaagcatctacccgttcactccagtcccaccccacgcctgactcccctctggaaactgc       c.*360

          .         .         .         .         .         .       g.23644
 aggccagatggttgctgccacaacttgtgtaccttcagggatggggctcttactccctcc       c.*420

          .         .         .         .         .         .       g.23704
 tgaggccagctgctctaatatcgatggtcctgcttgccagagagttcctctacccagcaa       c.*480

          .         .         .         .         .         .       g.23764
 aaatgagtgtctcagaagtgtgctcctctggcctcagttctcctcttttggaacaacata       c.*540

          .         .         .         .         .         .       g.23824
 aaacaaatttaattttctacgcctctggggatatctgctcagccaatggaaaatctgggt       c.*600

          .         .         .         .         .         .       g.23884
 tcaaccagcccctgccatttcttaagactttctgctgcactcacaggatcctgagctgca       c.*660

          .         .         .         .         .         .       g.23944
 cttacctgtgagagtcttcaaacttttaaaccttgccagtcaggacttttgctattgcaa       c.*720

          .         .         .         .         .         .       g.24004
 atagaaaacccaactcaacctgcttaagcagaaaataaatttattgattcaagtttggag       c.*780

                                                                    g.24005
 a                                                                  c.*781

 (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 Ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2) 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.