(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)
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