(used for variant description)
(last modified November 22, 2013)
This file was created to facilitate the description of sequence variants on transcript NM_002608.2 in the PDGFB gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_012111.1, covering PDGFB transcript NM_002608.2.
(upstream sequence)
. . g.5029
cctgcctgcctccctgcgcacccgcagcc c.-961
. . . . . . g.5089
tcccccgctgcctccctagggctcccctccggccgccagcgcccatttttcattccctag c.-901
. . . . . . g.5149
atagagatactttgcgcgcacacacatacatacgcgcgcaaaaaggaaaaaaaaaaaaaa c.-841
. . . . . . g.5209
aagcccaccctccagcctcgctgcaaagagaaaaccggagcagccgcagctcgcagctcg c.-781
. . . . . . g.5269
cagctcgcagcccgcagcccgcagaggacgcccagagcggcgagcgggcgggcagacgga c.-721
. . . . . . g.5329
ccgacggactcgcgccgcgtccacctgtcggccgggcccagccgagcgcgcagcgggcac c.-661
. . . . . . g.5389
gccgcgcgcgcggagcagccgtgcccgccgcccgggccccgcgccagggcgcacacgctc c.-601
. . . . . . g.5449
ccgcccccctacccggcccgggcgggagtttgcacctctccctgcccgggtgctcgagct c.-541
. . . . . . g.5509
gccgttgcaaagccaactttggaaaaagttttttgggggagacttgggccttgaggtgcc c.-481
. . . . . . g.5569
cagctccgcgctttccgattttgggggcctttccagaaaatgttgcaaaaaagctaagcc c.-421
. . . . . . g.5629
ggcgggcagaggaaaacgcctgtagccggcgagtgaagacgaaccatcgactgccgtgtt c.-361
. . . . . . g.5689
ccttttcctcttggaggttggagtcccctgggcgcccccacacggctagacgcctcggct c.-301
. . . . . . g.5749
ggttcgcgacgcagccccccggccgtggatgctcactcgggctcgggatccgcccaggta c.-241
. . . . . . g.5809
gcggcctcggacccaggtcctgcgcccaggtcctcccctgccccccagcgacggagccgg c.-181
. . . . . . g.5869
ggccgggggcggcggcgcccgggggccatgcgggtgagccgcggctgcagaggcctgagc c.-121
. . . . . . g.5929
gcctgatcgccgcggacccgagccgagcccacccccctccccagccccccaccctggccg c.-61
. . . . . . g.5989
cgggggcggcgcgctcgatctacgcgtccggggccccgcggggccgggcccggagtcggc c.-1
. . . . . . g.6049
ATGAATCGCTGCTGGGCGCTCTTCCTGTCTCTCTGCTGCTACCTGCGTCTGGTCAGCGCC c.60
M N R C W A L F L S L C C Y L R L V S A p.20
| 02 . . . . . . g.14135
GAG | GGGGACCCCATTCCCGAGGAGCTTTATGAGATGCTGAGTGACCACTCGATCCGCTCC c.120
E | G D P I P E E L Y E M L S D H S I R S p.40
. . . . | 03 . . g.16448
TTTGATGATCTCCAACGCCTGCTGCACGGAGACCCCGGAG | AGGAAGATGGGGCCGAGTTG c.180
F D D L Q R L L H G D P G E | E D G A E L p.60
. . . . . . g.16508
GACCTGAACATGACCCGCTCCCACTCTGGAGGCGAGCTGGAGAGCTTGGCTCGTGGAAGA c.240
D L N M T R S H S G G E L E S L A R G R p.80
. | 04 . . . . . g.18175
AGGAGCCTGG | GTTCCCTGACCATTGCTGAGCCGGCCATGATCGCCGAGTGCAAGACGCGC c.300
R S L G | S L T I A E P A M I A E C K T R p.100
. . . . . . g.18235
ACCGAGGTGTTCGAGATCTCCCGGCGCCTCATAGACCGCACCAACGCCAACTTCCTGGTG c.360
T E V F E I S R R L I D R T N A N F L V p.120
. . . . . . g.18295
TGGCCGCCCTGTGTGGAGGTGCAGCGCTGCTCCGGCTGCTGCAACAACCGCAACGTGCAG c.420
W P P C V E V Q R C S G C C N N R N V Q p.140
. . . | 05 . . . g.19748
TGCCGCCCCACCCAGGTGCAGCTGCGACCTGTCCAG | GTGAGAAAGATCGAGATTGTGCGG c.480
C R P T Q V Q L R P V Q | V R K I E I V R p.160
. . . . . . g.19808
AAGAAGCCAATCTTTAAGAAGGCCACGGTGACGCTGGAAGACCACCTGGCATGCAAGTGT c.540
K K P I F K K A T V T L E D H L A C K C p.180
. . . . . . g.19868
GAGACAGTGGCAGCTGCACGGCCTGTGACCCGAAGCCCGGGGGGTTCCCAGGAGCAGCGA c.600
E T V A A A R P V T R S P G G S Q E Q R p.200
| 06 . . . . . . g.24164
G | CCAAAACGCCCCAAACTCGGGTGACCATTCGGACGGTGCGAGTCCGCCGGCCCCCCAAG c.660
A | K T P Q T R V T I R T V R V R R P P K p.220
. . . . . . g.24224
GGCAAGCACCGGAAATTCAAGCACACGCATGACAAGACGGCACTGAAGGAGACCCTTGGA c.720
G K H R K F K H T H D K T A L K E T L G p.240
g.24230
GCCTAG | c.727
A X p.241
. . | 07 . . . g.24671
gggcatcggcaggagagtgtgtgggcag | ggttatttaatatggtatttgctgtattgccc c.*60
. . . . . . g.24731
ccatggggtccttggagtgataatattgtttccctcgtccgtctgtctcgatgcctgatt c.*120
. . . . . . g.24791
cggacggccaatggtgcttcccccacccctccacgtgtccgtccacccttccatcagcgg c.*180
. . . . . . g.24851
gtctcctcccagcggcctccggcgtcttgcccagcagctcaagaagaaaaagaaggactg c.*240
. . . . . . g.24911
aactccatcgccatcttcttcccttaactccaagaacttgggataagagtgtgagagaga c.*300
. . . . . . g.24971
ctgatggggtcgctctttgggggaaacgggctccttcccctgcacctggcctgggccaca c.*360
. . . . . . g.25031
cctgagcgctgtggactgtcctgaggagccctgaggacctctcagcatagcctgcctgat c.*420
. . . . . . g.25091
ccctgaacccctggccagctctgaggggaggcacctccaggcaggccaggctgcctcgga c.*480
. . . . . . g.25151
ctccatggctaagaccacagacgggcacacagactggagaaaacccctcccacggtgccc c.*540
. . . . . . g.25211
aaacaccagtcacctcgtctccctggtgcctctgtgcacagtggcttcttttcgttttcg c.*600
. . . . . . g.25271
ttttgaagacgtggactcctcttggtgggtgtggccagcacaccaagtggctgggtgccc c.*660
. . . . . . g.25331
tctcaggtgggttagagatggagtttgctgttgaggtggctgtagatggtgacctgggta c.*720
. . . . . . g.25391
tcccctgcctcctgccaccccttcctccccacactccactctgattcacctcttcctctg c.*780
. . . . . . g.25451
gttcctttcatctctctacctccaccctgcattttcctcttgtcctggcccttcagtctg c.*840
. . . . . . g.25511
ctccaccaaggggctcttgaaccccttattaaggccccagatgatcccagtcactcctct c.*900
. . . . . . g.25571
ctagggcagaagactagaggccagggcagcaagggacctgctcatcatattccaacccag c.*960
. . . . . . g.25631
ccacgactgccatgtaaggttgtgcagggtgtgtactgcacaaggacattgtatgcaggg c.*1020
. . . . . . g.25691
agcactgttcacatcatagataaagctgatttgtatatttattatgacaatttctggcag c.*1080
. . . . . . g.25751
atgtaggtaaagaggaaaaggatccttttcctaattcacacaaagactccttgtggactg c.*1140
. . . . . . g.25811
gctgtgcccctgatgcagcctgtggcttggagtggccaaataggagggagactgtggtag c.*1200
. . . . . . g.25871
gggcagggaggcaacactgctgtccacatgacctccatttcccaaagtcctctgctccag c.*1260
. . . . . . g.25931
caactgcccttccaggtgggtgtgggacacctgggagaaggtctccaagggagggtgcag c.*1320
. . . . . . g.25991
ccctcttgcccgcacccctccctgcttgcacacttccccatctttgatccttctgagctc c.*1380
. . . . . . g.26051
cacctctggtggctcctcctaggaaaccagctcgtgggctgggaatgggggagagaaggg c.*1440
. . . . . . g.26111
aaaagatccccaagaccccctggggtgggatctgagctcccacctcccttcccacctact c.*1500
. . . . . . g.26171
gcactttcccccttcccgccttccaaaacctgcttccttcagtttgtaaagtcggtgatt c.*1560
. . . . . . g.26231
atatttttgggggctttccttttattttttaaatgtaaaatttatttatattccgtattt c.*1620
. . . . g.26273
aaagttgtaaaaaaaaataaccacaaaacaaaaccaaatgaa c.*1662
(downstream sequence)
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