(used for variant description)
(last modified November 11, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_003990.3 in the PAX2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008680.2, covering PAX2 transcript NM_003990.3.
(upstream sequence)
. g.5010
cgggggcctg c.-541
. . . . . . g.5070
gcccgcgcgctcccctcccgcaggcgccacctcggacatccccgggattgctacttctct c.-481
. . . . . . g.5130
gccaacttcgccaactcgccagcacttggagaggcccggctcccctcccggcgccctctg c.-421
. . . . . . g.5190
accgcccccgccccgcgcgctctccgaccaccgcctctcggatgaccaggttccagggga c.-361
. . . . . . g.5250
gctgagcgagtcgcctcccccgcccagcttcagccctggctgcagctgcagcgcgagcca c.-301
. . . . . . g.5310
tgcgcccccagtgcaccccggcccggcccaccgccccggggccattctgctgaccgccca c.-241
. . . . . . g.5370
gccccgagccccgacagtggcaagttgcggctactgcagttgcaagctccggccaacccg c.-181
. . . . . . g.5430
gaggagccccagcggggagcgcagtgctgcgccccccgcccccgcgcgccccgcagcagc c.-121
. . . . . . g.5490
cgggcgttcactcatcctccctcccccaccgtccctcccttttctcctcaagtcctgaag c.-61
. . . . . . g.5550
ttgagtttgagaggcgacacggcggcggcggccgcgctgctcccgctcctctgcctcccc c.-1
. . . . | 02 . . g.9052
ATGGATATGCACTGCAAAGCAGACCCCTTCTCCGCGATGCACC | CAGGGCACGGGGGTGTG c.60
M D M H C K A D P F S A M H P | G H G G V p.20
. . . . . . g.9112
AACCAGCTCGGGGGGGTGTTTGTGAACGGCCGGCCCCTACCCGACGTGGTGAGGCAGCGC c.120
N Q L G G V F V N G R P L P D V V R Q R p.40
. . . . . . g.9172
ATCGTGGAGCTGGCCCACCAGGGTGTGCGGCCCTGTGACATCTCCCGGCAGCTGCGGGTC c.180
I V E L A H Q G V R P C D I S R Q L R V p.60
. . . | 03 . . . g.10011
AGCCACGGCTGTGTCAGCAAAATCCTGGGCAG | GTACTACGAGACCGGCAGCATCAAGCCG c.240
S H G C V S K I L G R | Y Y E T G S I K P p.80
. . . . . . g.10071
GGTGTGATCGGTGGCTCCAAGCCCAAAGTGGCGACGCCCAAAGTGGTGGACAAGATTGCT c.300
G V I G G S K P K V A T P K V V D K I A p.100
. . . . . . g.10131
GAATACAAACGACAGAACCCGACTATGTTCGCCTGGGAGATTCGAGACCGGCTCCTGGCC c.360
E Y K R Q N P T M F A W E I R D R L L A p.120
. . . . . | 04 . g.38797
GAGGGCATCTGTGACAATGACACAGTGCCCAGCGTCTCTTCCATCAACAG | AATCATCCGG c.420
E G I C D N D T V P S V S S I N R | I I R p.140
. . . . . . g.38857
ACCAAAGTTCAGCAGCCTTTCCACCCAACGCCGGATGGGGCTGGGACAGGAGTGACCGCC c.480
T K V Q Q P F H P T P D G A G T G V T A p.160
. | 05 . . . . . g.40579
CCTGGCCACACCATTG | TTCCCAGCACGGCCTCCCCTCCTGTTTCCAGCGCCTCCAATGAC c.540
P G H T I V | P S T A S P P V S S A S N D p.180
. . . . . . g.40639
CCAGTGGGATCCTACTCCATCAATGGGATCCTGGGGATTCCTCGCTCCAATGGTGAGAAG c.600
P V G S Y S I N G I L G I P R S N G E K p.200
. | 06 . . . . . g.46276
AGGAAACGTGATGAAG | TTGAGGTATACACTGATCCTGCCCACATTAGAGGAGGTGGAGGT c.660
R K R D E V | E V Y T D P A H I R G G G G p.220
. . | 07 . . . . g.65754
TTGCATCTGGTCTGGACTTTAAGAG | ATGTGTCTGAGGGCTCAGTCCCCAATGGAGATTCC c.720
L H L V W T L R D | V S E G S V P N G D S p.240
. . . . . . g.65814
CAGAGTGGTGTGGACAGTTTGCGGAAGCACTTGCGAGCTGACACCTTCACCCAGCAGCAG c.780
Q S G V D S L R K H L R A D T F T Q Q Q p.260
. . . . . . g.65874
CTGGAAGCTTTGGATCGGGTCTTTGAGCGTCCTTCCTACCCTGACGTCTTCCAGGCATCA c.840
L E A L D R V F E R P S Y P D V F Q A S p.280
. . | 08 . . . . g.68438
GAGCACATCAAATCAGAACAG | GGGAACGAGTACTCCCTCCCAGCCCTGACCCCTGGGCTT c.900
E H I K S E Q | G N E Y S L P A L T P G L p.300
. . . . . . g.68498
GATGAAGTCAAGTCGAGTCTATCTGCATCCACCAACCCTGAGCTGGGCAGCAACGTGTCA c.960
D E V K S S L S A S T N P E L G S N V S p.320
. . | 09 . . . g.83969
GGCACACAGACATACCCAGTTGTGACTG | GTCGTGACATGGCGAGCACCACTCTGCCTGGT c.1020
G T Q T Y P V V T G | R D M A S T T L P G p.340
. . . . . . g.84029
TACCCCCCTCACGTGCCCCCCACTGGCCAGGGAAGCTACCCCACCTCCACCCTGGCAGGA c.1080
Y P P H V P P T G Q G S Y P T S T L A G p.360
. | 10 . . . . . g.86348
ATGGTGCCTG | GGAGCGAGTTCTCCGGCAACCCGTACAGCCACCCCCAGTACACGGCCTAC c.1140
M V P G | S E F S G N P Y S H P Q Y T A Y p.380
. . . | 11. . . g.86874
AACGAGGCTTGGAGATTCAGCAACCCCGCCTTACTAA | TGCCGCCCCCCGGGGCTCCGCCC c.1200
N E A W R F S N P A L L M | P P P G A P P p.400
. . . . . . g.86934
CTGCCGCTGCTGCCGCTGCCTATGACCGCCACTAGTTACCGCGGGGACCACATCAAGCTT c.1260
L P L L P L P M T A T S Y R G D H I K L p.420
. . . g.86973
CAGGCCGACAGCTTCGGCCTCCACATCGTCCCCGTCTGA c.1299
Q A D S F G L H I V P V X p.432
. . . . . . g.87033
ccccaccccggagggagggaggaccgacgcgacgcgatgcctcccggccaccgccccagc c.*60
. . . . . . g.87093
ctcaccccatcccacgacccccgcaacccttcacatcacccccctcgaaggtcggacagg c.*120
. . . . . . g.87153
acgggtggagccgtgggcgggaccctcaggcccgggcccgccgcccccagccccgcctgc c.*180
. . . . . . g.87213
cgcccctccccgcctgcctggactgcgcggcgccgtgagggggattcggcccagctcgtc c.*240
. . . . . . g.87273
ccggcctccaccaagccagccccgaagcccgccagccaccctgccggactcgggcgcgac c.*300
. . . . . . g.87333
ctgctggcgcgcgccggatgtttctgtgacacacaatcagcgcggaccgcagcgcggccc c.*360
. . . . . . g.87393
agccccgggcacccgcctcggacgctcgggcgccaggaggcttcgctggaggggctgggc c.*420
. . . . . . g.87453
caaggagattaagaagaaaacgactttctgcaggaggaagagcccgctgccgaatccctg c.*480
. . . . . . g.87513
ggaaaaattcttttcccccagtgccagccggactgccctcgccttccgggtgtgccctgt c.*540
. . . . . . g.87573
cccagaagatggaatgggggtgtgggggtccggctctaggaacgggctttgggggcgtca c.*600
. . . . . . g.87633
ggtctttccaaggttgggacccaaggatcggggggcccagcagcccgcaccgatcgagcc c.*660
. . . . . . g.87693
ggactctcggctcttcactgctcctcctggcctgcctagttccccagggcccggcacctc c.*720
. . . . . . g.87753
ctgctgcgagacccggctctcagccctgccttgcccctacctcagcgtctcttccacctg c.*780
. . . . . . g.87813
ctggcctcccagtttcccctcctgccagtccttcgcctgtcccttgacgccctgcatcct c.*840
. . . . . . g.87873
cctccctgactcgcagccccatcggacgctctcccgggaccgccgcaggaccagtttcca c.*900
. . . . . . g.87933
tagactgcggactggggtcttcctccagcagttacttgatgccccctcccccgacacaga c.*960
. . . . . . g.87993
ctctcaatctgccggtggtaagaaccggttctgagctggcgtctgagctgctgcggggtg c.*1020
. . . . . . g.88053
gaagtggggggctgcccactccactcctcccatcccctcccagcctcctcctccggcagg c.*1080
. . . . . . g.88113
aactgaacagaaccacaaaaagtctacatttatttaatatgatggtctttgcaaaaagga c.*1140
. . . . . . g.88173
acaaaacaacacaaaagcccaccaggctgctgctttgtggaaagacggtgtgtgtcgtgt c.*1200
. . . . . . g.88233
gaaggcgaaacccggtgtacataacccctccccctccgccccgccccgcccggccccgta c.*1260
. . . . . . g.88293
gagtccctgtcgcccgccggccctgcctgtagatacgccccgctgtctgtgctgtgagag c.*1320
. . . . . . g.88353
tcgccgctcgctgggggggaagggggggacacagctacacgcccattaaagcacagcacg c.*1380
. . . . . . g.88413
tcctgggggaggggggcattttttatgttacaaaaaaaaattacgaaagaaaagaaatct c.*1440
. . . . . . g.88473
ctatgcaaaatgacgaacatggtcctgtggactcctctggcctgttttgttggctctttc c.*1500
. . . . . . g.88533
tctgtaattccgtgttttcgctttttcctccctgcccctctctccctctgcccctctctc c.*1560
. . . . . . g.88593
ctctccgcttctctccccctctgtctctgtctctctccgtctctgtcgctcttgtctgtc c.*1620
. . . . . . g.88653
tgtctctgctctttcctcggcctctctccccagacctggcccggccgccctgtctccgca c.*1680
. . . . . . g.88713
ggctagatccgaggtggcagctccagcccccgggctcgccccctcgcgggcgtgccccgc c.*1740
. . . . . . g.88773
gcgccccgggcggccgaaggccgggccgccccgtcccgccccgtagttgctctttcggta c.*1800
. . . . . . g.88833
gtggcgatgcgccctgcatgtctcctcacccgtggatcgtgacgactcgaaataacagaa c.*1860
. . . . . . g.88893
acaaagtcaataaagtgaaaataaataaaaatccttgaacaaatccgaaaaggcttggag c.*1920
. . . . . . g.88953
tcctcgcccagatctctctcccctgcgagccctttttatttgagaaggaaaaagagaaaa c.*1980
. . . . . . g.89013
gagaatcgtttaagggaacccggcgcccagccaggctccagtggcccgaacggggcggcg c.*2040
. . . . . . g.89073
agggcggcgagggcgccgaggtccggcccatcccagtcctgtggggctggccgggcagag c.*2100
. . . . . . g.89133
accccggacccaggcccaggcctaacctgctaaatgtccccggacggttctggtctcctc c.*2160
. . . . . . g.89193
ggccactttcagtgcgtcggttcgttttgattctttttcttttgtgcacataagaaataa c.*2220
. . . g.89231
ataataataataaataaagaataaaattttgtatgtca c.*2258
(downstream sequence)
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