(used for variant description)
(last modified June 24, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_005027.3 in the PIK3R2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_033010.1, covering PIK3R2 transcript NM_005027.3.
(upstream sequence)
. . . . . . g.5060
gtggcggcggcggaggcggggatcccgcggctgcggcgacggtggccgcggtggagccac c.-481
. . . . . . | 02 g.7282
ggggcgggcttggcttggtgtgacggcggctgcggcggcggtggcggccgcgaccag | gtc c.-421
. . . . . . g.7342
ggcgtcctcagctggccgagcatggtggcagcctgcacccttggctcccttgtctggtgc c.-361
. . . . . . g.7402
agccagcagagccgccagccttgggcgcccatggccctccgtgtgagggcgtgagcggcc c.-301
. . . . . . g.7462
tgccccagcctcacctgctgatggaggactcaatggcccagtgacctgacaccacaccac c.-241
. . . . . . g.7522
caactccctcccaccagctgacgaatggtggacccagtgacgagtggcccttgtaagggt c.-181
. . . . . . g.7582
catggaataatttgaagcgaggcatgagcggcccctgtggtcgcctgtgactgctggaga c.-121
. . . . . . g.7642
tagaggtcccagcaccccaagccaacccagcggaccctcccagccctgcttcaaccaatg c.-61
. . . . . . g.7702
gggccagtggggctccaagcagccacctaaccatccagaccccaccccactcacgcggcc c.-1
. . . . . . g.7762
ATGGCGGGCCCTGAGGGCTTCCAGTACCGCGCTCTGTACCCGTTCCGCCGGGAGCGGCCG c.60
M A G P E G F Q Y R A L Y P F R R E R P p.20
. . . . . . g.7822
GAGGACCTGGAGCTGCTGCCCGGCGACGTGCTGGTAGTGAGCCGGGCGGCCTTGCAGGCG c.120
E D L E L L P G D V L V V S R A A L Q A p.40
. . . . . . g.7882
CTGGGCGTGGCCGAGGGTGGCGAGCGCTGCCCACAGAGCGTGGGCTGGATGCCCGGCCTC c.180
L G V A E G G E R C P Q S V G W M P G L p.60
. . . . . . g.7942
AACGAGCGCACACGGCAGCGAGGTGACTTCCCTGGCACCTATGTGGAGTTCCTGGGGCCC c.240
N E R T R Q R G D F P G T Y V E F L G P p.80
. . . . . . g.8002
GTGGCCCTGGCCCGGCCCGGCCCTCGCCCACGGGGCCCCCGCCCACTGCCCGCCAGGCCC c.300
V A L A R P G P R P R G P R P L P A R P p.100
. . | 03 . . . . g.12331
CGTGATGGGGCCCCTGAGCCAG | GCCTCACACTCCCCGACTTGCCCGAGCAGTTCTCCCCA c.360
R D G A P E P G | L T L P D L P E Q F S P p.120
. . . . . | 04 . g.12746
CCTGATGTGGCTCCCCCTCTTCTGGTGAAGCTTGTGGAGGCCATTGAAAGGACAG | GGCTG c.420
P D V A P P L L V K L V E A I E R T G | L p.140
. . . . | 05 . . g.12890
GACAGCGAATCTCACTACCGCCCGGAGCTGCCCGCACCGCGTACAG | ACTGGTCCCTGAGC c.480
D S E S H Y R P E L P A P R T D | W S L S p.160
. . . . . . g.12950
GACGTGGATCAGTGGGACACGGCAGCCCTGGCTGACGGCATTAAGAGCTTCCTGCTGGCA c.540
D V D Q W D T A A L A D G I K S F L L A p.180
. . . . . | 06 g.13103
CTGCCCGCGCCGCTCGTGACCCCCGAGGCCTCGGCCGAGGCGCGCCGGGCCCTGCGGG | AG c.600
L P A P L V T P E A S A E A R R A L R E | p.200
. . . . . . g.13163
GCCGCGGGGCCCGTGGGGCCGGCGCTGGAGCCACCGACGCTGCCGCTGCACCGCGCGCTC c.660
A A G P V G P A L E P P T L P L H R A L p.220
. . . . . . g.13223
ACGCTGCGCTTCCTGCTCCAGCACCTGGGCCGCGTGGCCCGCCGCGCCCCGGCCCTGGGT c.720
T L R F L L Q H L G R V A R R A P A L G p.240
. . . . . . g.13283
CCCGCGGTCCGGGCCCTGGGCGCCACCTTTGGGCCGCTGCTGCTGCGCGCGCCGCCGCCG c.780
P A V R A L G A T F G P L L L R A P P P p.260
. . . | 07 . . . g.13813
CCGTCCTCGCCGCCGCCAGGGGGCGCTCCCGACGG | GAGTGAGCCCAGCCCTGACTTCCCG c.840
P S S P P P G G A P D G | S E P S P D F P p.280
. . . . . . g.13873
GCGCTGCTGGTGGAGAAGCTGCTTCAGGAACACTTGGAAGAGCAGGAGGTTGCGCCCCCA c.900
A L L V E K L L Q E H L E E Q E V A P P p.300
| 08 . . . . . . g.14083
G | CGCTGCCGCCTAAACCCCCCAAGGCAAAGCCGGCCCCCACAGTCCTGGCCAATGGAGGG c.960
A | L P P K P P K A K P A P T V L A N G G p.320
. . . . . | 09 . g.14240
AGCCCACCCTCCCTGCAGGATGCTGAGTGGTACTGGGGGGACATTTCAAG | GGAGGAGGTG c.1020
S P P S L Q D A E W Y W G D I S R | E E V p.340
. . . . . . g.14300
AACGAGAAACTCCGGGACACTCCCGATGGCACCTTCCTAGTCCGAGATGCTTCTAGCAAG c.1080
N E K L R D T P D G T F L V R D A S S K p.360
. . | 10 . . . g.14820
ATCCAGGGCGAGTACACGCTGACCCTCAG | GAAAGGCGGGAACAATAAGCTGATCAAGGTC c.1140
I Q G E Y T L T L R | K G G N N K L I K V p.380
. . . . . . g.14880
TTCCACCGAGATGGGCACTATGGCTTCTCAGAGCCACTCACCTTCTGCTCCGTTGTGGAC c.1200
F H R D G H Y G F S E P L T F C S V V D p.400
. . . . . . g.14940
CTCATCAATCACTACCGCCACGAGTCTCTGGCCCAGTACAATGCCAAGCTGGACACACGG c.1260
L I N H Y R H E S L A Q Y N A K L D T R p.420
. . . | 11 . . . g.15115
CTCCTCTACCCTGTGTCCAAATACCAGCAG | GACCAGATTGTCAAGGAGGACAGCGTGGAG c.1320
L L Y P V S K Y Q Q | D Q I V K E D S V E p.440
. . . . . . g.15175
GCAGTGGGCGCCCAGCTTAAGGTCTATCACCAGCAGTACCAGGACAAGAGCCGCGAGTAT c.1380
A V G A Q L K V Y H Q Q Y Q D K S R E Y p.460
. . . | 12 . . . g.18006
GACCAGCTTTATGAAGAGTACACACGGACCTCCCAG | GAGCTGCAGATGAAGCGTACTGCA c.1440
D Q L Y E E Y T R T S Q | E L Q M K R T A p.480
. . . . . . g.18066
ATTGAGGCCTTCAATGAGACTATCAAGATCTTTGAAGAGCAGGGCCAGACTCAAGAGAAA c.1500
I E A F N E T I K I F E E Q G Q T Q E K p.500
. . . . . | 13 g.18953
TGCAGCAAGGAATACCTGGAGCGCTTCCGGCGTGAGGGCAACGAGAAAGAGATGCAAAG | G c.1560
C S K E Y L E R F R R E G N E K E M Q R | p.520
. . . . . . g.19013
ATCCTGCTGAACTCCGAGCGGCTCAAGTCCCGCATTGCCGAGATCCATGAGAGCCGCACG c.1620
I L L N S E R L K S R I A E I H E S R T p.540
. . . . . . g.19073
AAGCTGGAGCAGCAGCTGCGGGCCCAGGCCTCGGACAACAGAGAGATCGACAAGCGCATG c.1680
K L E Q Q L R A Q A S D N R E I D K R M p.560
. . . . . | 14 . g.20301
AACAGCCTCAAGCCGGACCTCATGCAGCTGCGCAAGATCCGAGACCAGTACCTCGT | GTGG c.1740
N S L K P D L M Q L R K I R D Q Y L V | W p.580
. . . . . . g.20361
CTCACCCAGAAAGGCGCCCGGCAGAAGAAAATCAACGAGTGGCTGGGGATTAAAAATGAG c.1800
L T Q K G A R Q K K I N E W L G I K N E p.600
| 15 . . . . . g.20600
ACTGAGGA | CCAGTACGCACTCATGGAGGACGAGGACGATCTCCCGCACCACGAGGAACGC c.1860
T E D | Q Y A L M E D E D D L P H H E E R p.620
. . . . . . g.20660
ACTTGGTACGTGGGCAAGATCAACCGCACGCAGGCAGAGGAGATGCTGAGTGGCAAGCGG c.1920
T W Y V G K I N R T Q A E E M L S G K R p.640
. . . . . | 16 g.20910
GATGGCACCTTCCTCATCCGCGAGAGCAGCCAGCGGGGCTGCTACGCCTGCTCCGTGGT | A c.1980
D G T F L I R E S S Q R G C Y A C S V V | p.660
. . . . . . g.20970
GTGGACGGCGACACCAAGCACTGCGTCATCTACCGCACGGCCACCGGCTTCGGCTTCGCG c.2040
V D G D T K H C V I Y R T A T G F G F A p.680
. . . . . . g.21030
GAGCCCTACAACCTGTACGGGTCGCTGAAGGAGCTGGTGCTGCACTACCAGCACGCCTCG c.2100
E P Y N L Y G S L K E L V L H Y Q H A S p.700
. . . . . . g.21090
CTGGTGCAGCACAACGACGCGCTCACCGTCACCCTGGCGCACCCAGTGCGCGCCCCGGGC c.2160
L V Q H N D A L T V T L A H P V R A P G p.720
. . g.21117
CCCGGCCCGCCGCCTGCCGCCCGCTGA c.2187
P G P P P A A R X p.728
. . . . . . g.21177
gcaccgaggacccgccccaagcagagccgcccctgggcccgtctgcgccggaggctgcgg c.*60
. . . . . . g.21237
cggcgggagccacggaccagaccagccacatccaggggtcctcatttctccggctctggc c.*120
. . . . . . g.21297
tcttgtttggggttctctcaccctctttctctttccttccctcccccattctccagatct c.*180
. . . . . . g.21357
ccctctgtctccttttctctgtctttcttggcccctgtctctctccatgttgggggtcct c.*240
. . . . . . g.21417
aactcccccaccccatatctacgtgtcctccgggcattgccctctccatggctctggtca c.*300
. . . . . . g.21477
ccctgaccctctgccctgcccaccgcaggtcccccggggtcccggaagccccttctggct c.*360
. . . . . . g.21537
gcacctgccatgtttacagagggcccctgggctgcgcggccccagcctgggcaccctgat c.*420
. . . . . . g.21597
ttttaagccatagacctggggtcagggcaggaaggaacttcactctgctgcttccgagaa c.*480
. . . . . . g.21657
cctcggccgtgacattcggggccgggcgggacccgccccacagactccaacttcccctcc c.*540
. . . . . . g.21717
aaaccccgaagtgaaacccgccaccgggttacccccacaagggggccgctgcgagaagtt c.*600
. . . . . . g.21777
cacccacccccgaaaaaataattaaactcgcaggccaggcacggtggctcatgcctgtaa c.*660
. . . . . . g.21837
tcccagcactttgggaggccaagacgggcggatcttttgaggtcgggagttggaggccag c.*720
. . . . . . g.21897
cctggccaaaatggcaaaaccccgcatctactaaaatacaaaaattagccgggcgtggtg c.*780
. . . . . . g.21957
gcggccgcctgtaatcccagctacttgggaggctgaggcgtgagaatctcttgaacccag c.*840
. . . . . . g.22017
gagatggaggttgcagtgagcagagatcgtgccactgcactccagcctgggtaacagagg c.*900
. . . . . . g.22077
gagactcctccgtctcaaaaaaataaataaataaacttgtgagctggccccaacccctcc c.*960
. . . . . . g.22137
taggaatcacagctccccgtactggtgccgccgcagtggccaagttgcgacactgcccac c.*1020
. . . . . . g.22197
ggcccctccctctgatgcagattcagggcttctcttcgatcatgttgggttttgattctg c.*1080
. . . . . . g.22257
tttttccttgactgcaaaaccctctttcctctcctcttttgggacaagagccctggtttt c.*1140
. . . . . . g.22317
ctacgctgcccttggccaccacactgcctgccccacgagctgggaggcaggttttgtacg c.*1200
. . . g.22356
gtacgttgttattgatatgatataaaacatcaaacgtcg c.*1239
(downstream sequence)
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