(used for variant description)
(last modified June 11, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_012250.5 in the RRAS2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_017058.1, covering RRAS2 transcript NM_012250.5.(upstream sequence) . g.10336 cagacggccatttg c.-301 . . . . . . g.10396 tggcggcgctggaggctgcgttcggcaggcgctgcggagacgcgtagaggagcgcgcccc c.-241 . . . . . . g.10456 ccggccgctgccgcccctggcccgtgccgtcaccccgcttctccgcgcctcgggcggtac c.-181 . . . . . . g.10516 ccagccagtccccagcgccgcgctaccgcgctgaccggccctccagacgcctcccggtac c.-121 . . . . . . g.10576 ccgggaccccagcccggccgctcgcccgcagcccgccggccgcacacgtccccggagccg c.-61 . . . . . . g.10636 ggcctagggcgggcggcagcggcggctcggcgcagtcaggctgggctctgtagcgtcccc c.-1 . . . . . . g.10696 ATGGCCGCGGCCGGCTGGCGGGACGGCTCCGGCCAGGAGAAGTACCGGCTCGTGGTGGTC c.60 M A A A G W R D G S G Q E K Y R L V V V p.20 . . . . | 02 . g.73663 GGCGGGGGCGGCGTGGGCAAGTCGGCGCTCACCATCCAGTTCATCCAG | TCCTATTTTGTA c.120 G G G G V G K S A L T I Q F I Q | S Y F V p.40 . . . . . . g.73723 ACGGATTATGATCCAACCATTGAAGATTCTTACACAAAGCAGTGTGTGATAGATGACAGA c.180 T D Y D P T I E D S Y T K Q C V I D D R p.60 . | 03 . . . . . g.74688 GCAGCCCGGCTAGATA | TTTTGGATACAGCAGGACAAGAAGAGTTTGGAGCCATGAGAGAA c.240 A A R L D I | L D T A G Q E E F G A M R E p.80 . . . . . | 04 g.74928 CAGTATATGAGGACTGGCGAAGGCTTCCTGTTGGTCTTTTCAGTCACAGATAGAGGCAG | T c.300 Q Y M R T G E G F L L V F S V T D R G S | p.100 . . . . . . g.74988 TTTGAAGAAATCTATAAGTTTCAAAGACAGATTCTCAGAGTAAAGGATCGTGATGAGTTC c.360 F E E I Y K F Q R Q I L R V K D R D E F p.120 . . . . | 05 . g.87798 CCAATGATTTTAATTGGTAATAAAGCAGATCTGGATCATCAAAGACAG | GTAACACAGGAA c.420 P M I L I G N K A D L D H Q R Q | V T Q E p.140 . . . . . . g.87858 GAAGGACAACAGTTAGCACGGCAGCTTAAGGTAACATACATGGAGGCATCAGCAAAGATT c.480 E G Q Q L A R Q L K V T Y M E A S A K I p.160 . . . . | 06. . g.90095 AGGATGAATGTAGATCAAGCTTTCCATGAACTTGTCCGGGTTATCAG | GAAATTTCAAGAG c.540 R M N V D Q A F H E L V R V I R | K F Q E p.180 . . . . . . g.90155 CAGGAATGTCCTCCTTCACCAGAACCAACACGGAAAGAAAAAGACAAGAAAGGCTGCCAT c.600 Q E C P P S P E P T R K E K D K K G C H p.200 . g.90170 TGTGTCATTTTCTAG c.615 C V I F X p.204 . . . . . . g.90230 aatcccttcagttttagctaccaacggccaggaaaagccctcatcttctctttctctcct c.*60 . . . . . . g.90290 cagtttacatcttgttggtacctttctagccttagacaaatgatcaccatgttagcctta c.*120 . . . . . . g.90350 gacgaagaagctggctagtcctttctgtgaagctaatacaatggtcatttccagacaaat c.*180 . . . . . . g.90410 ttaaaggaaacactaaggctgcttcaaagattatctgattcctttaaaatatatgtctat c.*240 . . . . . . g.90470 atacacagacatgctctttttttaagtgcttacattttaatagagatgaatcagttttgg c.*300 . . . . . . g.90530 aatctaagctgtttgccaagctgaagctacaggttgtgaaataatttttaacttttggaa c.*360 . . . . . . g.90590 tcatactgcctactgttactctaaatagaaatatagggttttttttaatgtgaatttttg c.*420 . . . . . . g.90650 cctatctttaaacatttcaatgtcagcctttgttaaccttaaatacactgaattgaatct c.*480 . . . . . . g.90710 acaaaagtgaaccatctcagacctttactgatactacaacttttgttttctgatggccaa c.*540 . . . . . . g.90770 aataccaaatgcctgttgtatttatggattaaaaactgcttataaaaccctgtgttacta c.*600 . . . . . . g.90830 ctcctactcttggagatgataatattctatgtggtcaaatatttggactcatttaggact c.*660 . . . . . . g.90890 tagatatttcagtgtacttgattttttaatttaactctttttcacagccacgctaagggt c.*720 . . . . . . g.90950 aaaaaggaataatttccttctgtcttccttttcaagtatttctgggtaagggattcaaaa c.*780 . . . . . . g.91010 aactaaaactgtttttgtttgtaatataaaatatggaattgatctttccagggtcagaga c.*840 . . . . . . g.91070 tgattaatgtttttgctatatacttttatacattattttcttatcaaactagttaacaag c.*900 . . . . . . g.91130 tatttttatatgtttgtaagcagatatgctttcatagcataccttgtgtatatgtaaaga c.*960 . . . . . . g.91190 taagtatttaattctcactgttcacttttaactgacaaagaaaaacaagtggaaactaca c.*1020 . . . . . . g.91250 gaaactgtggtagaacttttacttgctggtctggtcttggttgtacccatctttggccag c.*1080 . . . . . . g.91310 tcacataactactcaagaaaccttcccaatagagtacaacaggatgagactctgaaatca c.*1140 . . . . . . g.91370 ctttcagtattccctgctagatattgattgttatttcaagtattaagtgtaagcttttaa c.*1200 . . . . . . g.91430 tggataattagtataactgtggatggcatctgattttgtttttaattctgtggattgtgt c.*1260 . . . . . . g.91490 ttaagcaattcaatagtatgttcctgattttgagatgctaagtggtattgcacagttgtc c.*1320 . . . . . . g.91550 actttatcaagtgtgtacaacagtcccatgaagtttatagagcatacccttgtatagctt c.*1380 . . . g.91587 caggtgctagaattaaaattgatctgttatcacaaga c.*1417 (downstream sequence)Legend:
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