(used for variant description)
(last modified July 24, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_000297.3 in the PKD2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008604.1, covering PKD2 transcript NM_000297.3.
(upstream sequence)
. . g.5006
gcgccgggaagaaaggaacatggctcc c.-61
. . . . . . g.5066
tgaggcgcacagcgccgagcgcggcgccgcgcacccgcgcgccggacgccagtgaccgcg c.-1
. . . . . . g.5126
ATGGTGAACTCCAGTCGCGTGCAGCCTCAGCAGCCCGGGGACGCCAAGCGGCCGCCCGCG c.60
M V N S S R V Q P Q Q P G D A K R P P A p.20
. . . . . . g.5186
CCCCGCGCGCCGGACCCGGGCCGGCTGATGGCTGGCTGCGCGGCCGTGGGCGCCAGCCTC c.120
P R A P D P G R L M A G C A A V G A S L p.40
. . . . . . g.5246
GCCGCCCCGGGCGGCCTCTGCGAGCAGCGGGGCCTGGAGATCGAGATGCAGCGCATCCGG c.180
A A P G G L C E Q R G L E I E M Q R I R p.60
. . . . . . g.5306
CAGGCGGCCGCGCGGGACCCCCCGGCCGGAGCCGCGGCCTCCCCTTCTCCTCCGCTCTCG c.240
Q A A A R D P P A G A A A S P S P P L S p.80
. . . . . . g.5366
TCGTGCTCCCGGCAGGCGTGGAGCCGCGATAACCCCGGCTTCGAGGCCGAGGAGGAGGAG c.300
S C S R Q A W S R D N P G F E A E E E E p.100
. . . . . . g.5426
GAGGAGGTGGAAGGGGAAGAAGGCGGAATGGTGGTGGAGATGGACGTAGAGTGGCGCCCG c.360
E E V E G E E G G M V V E M D V E W R P p.120
. . . . . . g.5486
GGCAGCCGGAGGTCGGCCGCCTCCTCGGCCGTGAGCTCCGTGGGCGCGCGGAGCCGGGGG c.420
G S R R S A A S S A V S S V G A R S R G p.140
. . . . . . g.5546
CTTGGGGGCTACCACGGCGCGGGCCACCCGAGCGGGAGGCGGCGCCGGCGAGAGGACCAG c.480
L G G Y H G A G H P S G R R R R R E D Q p.160
. . . . . . g.5606
GGCCCGCCGTGCCCCAGCCCAGTCGGCGGCGGGGACCCGCTGCATCGCCACCTCCCCCTG c.540
G P P C P S P V G G G D P L H R H L P L p.180
. . . . . | 02 . g.16795
GAAGGGCAGCCGCCCCGAGTGGCCTGGGCGGAGAGGCTGGTTCGCGGGCTGCGAG | GTCTC c.600
E G Q P P R V A W A E R L V R G L R G | L p.200
. . . . . . g.16855
TGGGGAACAAGACTCATGGAGGAAAGCAGCACTAACCGAGAGAAATACCTTAAAAGTGTT c.660
W G T R L M E E S S T N R E K Y L K S V p.220
. . . . | 03 . g.33563
TTACGGGAACTGGTCACATACCTCCTTTTTCTCATAGTCTTGTGCATCT | TGACCTACGGC c.720
L R E L V T Y L L F L I V L C I L | T Y G p.240
. . . . . . g.33623
ATGATGAGCTCCAATGTGTACTACTACACCCGGATGATGTCACAGCTCTTCCTAGACACC c.780
M M S S N V Y Y Y T R M M S Q L F L D T p.260
. . . . . . g.33683
CCCGTGTCCAAAACGGAGAAAACTAACTTTAAAACTCTGTCTTCCATGGAAGACTTCTGG c.840
P V S K T E K T N F K T L S S M E D F W p.280
| 04 . . . . . . g.35640
AAG | TTCACAGAAGGCTCCTTATTGGATGGGCTGTACTGGAAGATGCAGCCCAGCAACCAG c.900
K | F T E G S L L D G L Y W K M Q P S N Q p.300
. . . . . . g.35700
ACTGAAGCTGACAACCGAAGTTTCATCTTCTATGAGAACCTGCTGTTAGGGGTTCCACGA c.960
T E A D N R S F I F Y E N L L L G V P R p.320
. . . . . . g.35760
ATACGGCAACTCCGAGTCAGAAATGGATCCTGCTCTATCCCCCAGGACTTGAGAGATGAA c.1020
I R Q L R V R N G S C S I P Q D L R D E p.340
. . . . . . g.35820
ATTAAAGAGTGCTATGATGTCTACTCTGTCAGTAGTGAAGATAGGGCTCCCTTTGGGCCC c.1080
I K E C Y D V Y S V S S E D R A P F G P p.360
. | 05 . . . . . g.40611
CGAAATGGAACCGC | TTGGATCTACACAAGTGAAAAAGACTTGAATGGTAGTAGCCACTGG c.1140
R N G T A | W I Y T S E K D L N G S S H W p.380
. . . . . . g.40671
GGAATCATTGCAACTTATAGTGGAGCTGGCTATTATCTGGATTTGTCAAGAACAAGAGAG c.1200
G I I A T Y S G A G Y Y L D L S R T R E p.400
. . . . . . g.40731
GAAACAGCTGCACAAGTTGCTAGCCTCAAGAAAAATGTCTGGCTGGACCGAGGAACCAGG c.1260
E T A A Q V A S L K K N V W L D R G T R p.420
. . . . . | 06 g.43975
GCAACTTTTATTGACTTCTCAGTGTACAACGCCAACATTAACCTGTTCTGTGTGGTCAG | G c.1320
A T F I D F S V Y N A N I N L F C V V R | p.440
. . . . . . g.44035
TTATTGGTTGAATTCCCAGCAACAGGTGGTGTGATTCCATCTTGGCAATTTCAGCCTTTA c.1380
L L V E F P A T G G V I P S W Q F Q P L p.460
. . . . . . g.44095
AAGCTGATCCGATATGTCACAACTTTTGATTTCTTCCTGGCAGCCTGTGAGATTATCTTT c.1440
K L I R Y V T T F D F F L A A C E I I F p.480
. . . . . . g.44155
TGTTTCTTTATCTTTTACTATGTGGTGGAAGAGATATTGGAAATTCGCATTCACAAACTA c.1500
C F F I F Y Y V V E E I L E I R I H K L p.500
. . . . | 07 . g.49335
CACTATTTCAGGAGTTTCTGGAATTGTCTGGATGTTGTGATCGTTGTG | CTGTCAGTGGTA c.1560
H Y F R S F W N C L D V V I V V | L S V V p.520
. . . . . . g.49395
GCTATAGGAATTAACATATACAGAACATCAAATGTGGAGGTGCTACTACAGTTTCTGGAA c.1620
A I G I N I Y R T S N V E V L L Q F L E p.540
. . . . . . g.49455
GATCAAAATACTTTCCCCAACTTTGAGCATCTGGCATATTGGCAGATACAGTTCAACAAT c.1680
D Q N T F P N F E H L A Y W Q I Q F N N p.560
. . . | 08 . . . g.53442
ATAGCTGCTGTCACAGTATTTTTTGTCTGGATTAAG | CTCTTCAAATTCATCAATTTTAAC c.1740
I A A V T V F F V W I K | L F K F I N F N p.580
. . . . . . g.53502
AGGACCATGAGCCAGCTCTCGACAACCATGTCTCGATGTGCCAAAGACCTGTTTGGCTTT c.1800
R T M S Q L S T T M S R C A K D L F G F p.600
. . . . . . g.53562
GCTATTATGTTCTTCATTATTTTCCTAGCGTATGCTCAGTTGGCATACCTTGTCTTTGGC c.1860
A I M F F I I F L A Y A Q L A Y L V F G p.620
. . . | 09 . . g.55337
ACTCAGGTCGATGACTTCAGTACTTTCCAAGAGTGTAT | CTTCACTCAATTCCGTATCATT c.1920
T Q V D D F S T F Q E C I | F T Q F R I I p.640
. . . . . . g.55397
TTGGGCGATATCAACTTTGCAGAGATTGAGGAAGCTAATCGAGTTTTGGGACCAATTTAT c.1980
L G D I N F A E I E E A N R V L G P I Y p.660
. . . | 10 . . g.59259
TTCACTACATTTGTGTTCTTTATGTTCTTCATTCTTTTG | AATATGTTTTTGGCTATCATC c.2040
F T T F V F F M F F I L L | N M F L A I I p.680
. . . . . . g.59319
AATGATACTTACTCTGAAGTGAAATCTGACTTGGCACAGCAGAAAGCTGAAATGGAACTC c.2100
N D T Y S E V K S D L A Q Q K A E M E L p.700
. | 11 . . . . g.62748
TCAGATCTTATCAGAAAG | GGCTACCATAAAGCTTTGGTCAAACTAAAACTGAAAAAAAAT c.2160
S D L I R K | G Y H K A L V K L K L K K N p.720
. . . . . . g.62808
ACCGTGGATGACATTTCAGAGAGTCTGCGGCAAGGAGGAGGCAAGTTAAACTTTGACGAA c.2220
T V D D I S E S L R Q G G G K L N F D E p.740
. . | 12 . . . . g.63134
CTTCGACAAGATCTCAAAGG | GAAGGGCCATACTGATGCAGAGATTGAGGCAATATTCACA c.2280
L R Q D L K G | K G H T D A E I E A I F T p.760
. . . . . . g.63194
AAGTACGACCAAGATGGAGACCAAGAACTGACCGAACATGAACATCAGCAGATGAGAGAC c.2340
K Y D Q D G D Q E L T E H E H Q Q M R D p.780
. | 13 . . . . g.65272
GACTTGGAGAAAGAGAGG | GAGGACCTGGATTTGGATCACAGTTCTTTACCACGTCCCATG c.2400
D L E K E R | E D L D L D H S S L P R P M p.800
. . . . . . g.65332
AGCAGCCGAAGTTTCCCTCGAAGCCTGGATGACTCTGAGGAGGATGACGATGAAGATAGC c.2460
S S R S F P R S L D D S E E D D D E D S p.820
. . . . . . g.65392
GGACATAGCTCCAGAAGGAGGGGAAGCATTTCTAGTGGCGTTTCTTACGAAGAGTTTCAA c.2520
G H S S R R R G S I S S G V S Y E E F Q p.840
| 14 . . . . . . g.72202
GT | CCTGGTGAGACGAGTGGACCGGATGGAGCATTCCATCGGCAGCATAGTGTCCAAGATT c.2580
V | L V R R V D R M E H S I G S I V S K I p.860
. . . . . . g.72262
GACGCCGTGATCGTGAAGCTAGAGATTATGGAGCGAGCCAAACTGAAGAGGAGGGAGGTG c.2640
D A V I V K L E I M E R A K L K R R E V p.880
. . . | 15 . . . g.72820
CTGGGAAGGCTGTTGGATGGGGTGGCCGAG | GATGAAAGGCTGGGTCGTGACAGTGAAATC c.2700
L G R L L D G V A E | D E R L G R D S E I p.900
. . . . . . g.72880
CATAGGGAACAGATGGAACGGCTAGTACGTGAAGAGTTGGAACGCTGGGAATCCGATGAT c.2760
H R E Q M E R L V R E E L E R W E S D D p.920
. . . . . . g.72940
GCAGCTTCCCAGATCAGTCATGGTTTAGGCACGCCAGTGGGACTAAATGGTCAACCTCGC c.2820
A A S Q I S H G L G T P V G L N G Q P R p.940
. . . . . . g.73000
CCCAGAAGCTCCCGCCCATCTTCCTCCCAATCTACAGAAGGCATGGAAGGTGCAGGTGGA c.2880
P R S S R P S S S Q S T E G M E G A G G p.960
. . g.73027
AATGGGAGTTCTAATGTCCACGTATGA c.2907
N G S S N V H V X p.968
. . . . . . g.73087
tatgtgtgtttcagtatgtgtgtttctaataagtgaggaagtggctgtcctgaattgctg c.*60
. . . . . . g.73147
taacaagcacactatttatatgccctgaccaccataggatgctagtctttgtgaccgatt c.*120
. . . . . . g.73207
gctaatcttctgcactttaatttattttatataaactttacccatggttcaaagattttt c.*180
. . . . . . g.73267
ttttctttttctcatataagaaatctaggtgtaaatattgagtacagaaaaaaaatcttc c.*240
. . . . . . g.73327
atgatgtgtattgagcggtacgcccagttgccaccatgactgagtcttctcagttgacaa c.*300
. . . . . . g.73387
tgaagtagccttttaaagctagaaaactgtcaaagggcttctgagtttcatttccagtca c.*360
. . . . . . g.73447
caaaaatcagtattgttatttttttccaagagtgtgaaggaaaatggggcattcctttcc c.*420
. . . . . . g.73507
actctggcatagttcatgagcttaatacatagctttcttttaagaaaggagccttttttt c.*480
. . . . . . g.73567
tcaactagcttcctggggtaaacttttctaaaagataaaatggaaaggaactccaaacta c.*540
. . . . . . g.73627
tgatagaatctgtgtgaatggttaagatgaatgttaaatactatgcttttttgtaagttg c.*600
. . . . . . g.73687
atcgtatctgatgtctgtgggactaactgtatcacttaatttttaccttattttggctct c.*660
. . . . . . g.73747
aatttgaataagctgagtaaaaccaccaaagatcagttataggataaaatggcatctcta c.*720
. . . . . . g.73807
accataacacaggagaattggaaggagccctaagttgtcactcagtttaatttcttttaa c.*780
. . . . . . g.73867
tggttagtttagcctaaagatttatctgcatattctttttcccatgtggctctactcatt c.*840
. . . . . . g.73927
tgcaactgaatttaatgttataactcatctagtgagaccaacttactaaatttttagtat c.*900
. . . . . . g.73987
gcactgaaagtttttatccaacaattatgttcattttaagcaaaattttaagaaagtttt c.*960
. . . . . . g.74047
gaaattcataaagcatttggttttaaactattttaagaatatagtactcggtcaggtatg c.*1020
. . . . . . g.74107
acggctcacgcctgtaatcccagcactttgggaggccgaaacaggcgaatcacttgagcc c.*1080
. . . . . . g.74167
caggagttcaagaccaacatgggcaatgtggcgaaactccatctctacaaaaaatgcaaa c.*1140
. . . . . . g.74227
aataaaaaatatagtactcaagtattcttgatcctgtgtttcaaaactagaatttgtaat c.*1200
. . . . . . g.74287
gcaaatggagctcagtctaataaaaaagaggttttggtattaaaagttcatacattagac c.*1260
. . . . . . g.74347
agtatcagccaaaatttgagttagcaacactgttttctttacgagagggtctcacccaaa c.*1320
. . . . . . g.74407
tttatggggagaaatctatttctcaaaaaaaaaaatcttcttttacagaaatgttgagta c.*1380
. . . . . . g.74467
aggtgacattttgagcgctaataagcaaaagagcatgcagtgctgttgaataaccctcac c.*1440
. . . . . . g.74527
ttggagaaccaagagaatcctgtcgtttaatgctatattttaatttcacaagttgttcat c.*1500
. . . . . . g.74587
ttaactggtagaatgtcagtccaatctccaatgagaacatgagcaaatagacctttccag c.*1560
. . . . . . g.74647
gttgaaagtgaaacatactgggtttctgtaagtttttcctcatggcttcatctctatctt c.*1620
. . . . . . g.74707
tactttctcttgaatatgctacacaaagttctttattactacatactaaagtttgcattc c.*1680
. . . . . . g.74767
cagggatattgactgtacatatttatgtatatgtaccatgttgttacatgtaaacaaact c.*1740
. . . . . . g.74827
tcaatttgaagtgcagctattatgtggtatccatgtgtatcgaccatgtgccatatatca c.*1800
. . . . . . g.74887
attatggtcactagaaagtctctttatgatactttttattgtactgtttttcatttcact c.*1860
. . . . . . g.74947
tgcaaaattttgcagaattcctcctttctacccataaattacatatatttttcttcttta c.*1920
. . . . . . g.75007
gtcatggagaactccccccctcatctcttccctattatctttccctgtgtactggtatta c.*1980
. . . . . . g.75067
ttaaaaagacattacatacgcaagtctttctcgacaatcaagaatgttattaatgtgtaa c.*2040
. . . . g.75112
tactgagcactttacttcttaataaaaacttgatatagtagcaga c.*2085
(downstream sequence)
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