(used for variant description)
(last modified June 12, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_004474.3 in the FOXD2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000001.10, covering FOXD2 transcript NM_004474.3.
(upstream sequence)
. g.5019
cccttggtcagaggtccca c.-2101
. . . . . . g.5079
gagggggcccaggcgacttcctctcaaaggacatgagtagtcagacctgccttccatttt c.-2041
. . . . . . g.5139
tttctgcccttaccttggggggatgaagaactctattttgaggattctgtgaaaagggtt c.-1981
. . . . . . g.5199
gcaacccaactctgttctatttctttgcaggagcctgggtgagttctttctccctatcct c.-1921
. . . . . . g.5259
gggcctctgtagctccatctgtggaatgggagagttggattaacaccaggctatcccgta c.-1861
. . . . . . g.5319
gattggaggctgctgttagatgaaactgcaaagtgttctcagtaccctttcctaaatggc c.-1801
. . . . . . g.5379
ctagaatatggctacacttatacatcagttctgaggtaggtgttactagcctcattttta c.-1741
. . . . . . g.5439
caaaggcagaaacaaagcgcaaagaaccttgcccaaggtgacagatagggtaagtagtga c.-1681
. . . . . . g.5499
aggcaggattggaaccccaggagcctgacttaaggtcgctgctcttaactactatgcaga c.-1621
. . . . . . g.5559
ccaggaaactgaggctccgaagcggggaagtcacctaatgagggtcacacagccttgcta c.-1561
. . . . . . g.5619
cagcggaggcagctgggattccggcctcgcacgcccgagctttagccactgtgcggcgct c.-1501
. . . . . . g.5679
gtcggggcagcagcccaggcatccgctcagttcctgctcacgtccagcgcccatctcccc c.-1441
. . . . . . g.5739
ttccgtgccccagaggctgaaatgggcccaatctgtgttgaagctgcttgtttctgggtc c.-1381
. . . . . . g.5799
ctggagggaggccgggggagaaagaggtctaataggatgggcaggaacccggctagcgag c.-1321
. . . . . . g.5859
aaacaaggcacagggccaaccttagttgcacaagacttttgagagatgaaggcaacactt c.-1261
. . . . . . g.5919
ggtggaggtcagggttcactgagggggtgtcgggcagggggcggaggaggtcctgccgcc c.-1201
. . . . . . g.5979
tgtcggtggggcccagaaccctgggagccaggaaggtggggggtgtccagtcctcagggc c.-1141
. . . . . . g.6039
aactggggccagggagaggggagggagaaattaagcggattcccagacccatgaacagac c.-1081
. . . . . . g.6099
atccagacaaatgccgtttccacagagactcacggagagtgagatagtcacagagactga c.-1021
. . . . . . g.6159
gacaaacggatgccgagatccagagggtcggagaacaggcaaactcggagcagtagaccg c.-961
. . . . . . g.6219
gcccgcgccccgggaacgcggccacagcggccggcgctctgcccggcctctccgcgcgga c.-901
. . . . . . g.6279
gaggggtggcgggcccgacagcggagggaggagagggcgccgccgcaatctcacctctcc c.-841
. . . . . . g.6339
caggcccaaggctgcgggcgccaagttcgctcctggtgatcactcgaatgcgtctcccct c.-781
. . . . . . g.6399
cgggctggaagccgtgcgggctcgggtgggcgccggcgggccgcgctggggcggcgtggg c.-721
. . . . . . g.6459
tcccggcgtctcagcctcgcgctcccactgcgcttcggcccggtggcccgggcgccgcct c.-661
. . . . . . g.6519
tggggagaggacgggtggggaccgccgccacttccctggctgcggctggcgcccgagtga c.-601
. . . . . . g.6579
gccttaacatccaggggctgagcgttctgaaggcggcggcttcagggagcacagggtgca c.-541
. . . . . . g.6639
ggagcggcggcgaagacaagggcccgcctccggccactcgagcccagctcccgccgcggc c.-481
. . . . . . g.6699
ggcggtttgttcccgccgggtccctcagcggaggcgctacgcccgcccctgtcgcctcgc c.-421
. . . . . . g.6759
cccaccccgcccagggagctccgccctagcccgcagctcttccgccttaggcagccgcta c.-361
. . . . . . g.6819
ggcgggagggacaatcccccaccaccaaccactgccaccccgaggggactaggggctgag c.-301
. . . . . . g.6879
gcccgcccaggtaagggaaagcctcagctccttccgttgcgccccagcggcgggtcccag c.-241
. . . . . . g.6939
ctcggattcccggggtagtggcgggggccgccggcgggtcgtgccctggaaggtgagcgc c.-181
. . . . . . g.6999
ggccgagctgggccgccagggggcgctgcggagccgggggacacccctccctgcctgcct c.-121
. . . . . . g.7059
cagtcccccgccccctccccgcccgcgcgcaaaacgcactcgccccagaggcagcgcggc c.-61
. . . . . . g.7119
cgagcccgagccgctgccggagcggagccggagagtggcggcggcggcggcagcggcacc c.-1
. . . . . . g.7179
ATGACCCTGGGCAGCTGCTGCTGCGAGATCATGTCCTCCGAGAGCTCCCCGGCCGCGCTG c.60
M T L G S C C C E I M S S E S S P A A L p.20
. . . . . . g.7239
TCCGAGGCCGACGCAGACATAGACGTGGTGGGCGGCGGCAGCGGCGGGGGGGAGCTCCCA c.120
S E A D A D I D V V G G G S G G G E L P p.40
. . . . . . g.7299
GCTCGCTCCGGGCCCCGCGCCCCCCGGGACGTGCTCCCCCACGGCCACGAGCCTCCCGCG c.180
A R S G P R A P R D V L P H G H E P P A p.60
. . . . . . g.7359
GAGGAAGCCGAGGCAGACTTAGCCGAGGACGAGGAGGAGTCTGGTGGCTGCTCGGACGGC c.240
E E A E A D L A E D E E E S G G C S D G p.80
. . . . . . g.7419
GAGCCCCGCGCTCTGGCGTCCCGGGGGGCGGCGGCCGCAGCGGGGAGCCCGGGGCCAGGC c.300
E P R A L A S R G A A A A A G S P G P G p.100
. . . . . . g.7479
GCCGCGGCGGCCCGCGGCGCAGCGGGGCCCGGGCCGGGACCGCCGTCGGGGGGCGCGGCG c.360
A A A A R G A A G P G P G P P S G G A A p.120
. . . . . . g.7539
ACGCGGAGCCCGCTGGTGAAGCCGCCCTACTCGTACATCGCGCTCATCACCATGGCCATC c.420
T R S P L V K P P Y S Y I A L I T M A I p.140
. . . . . . g.7599
CTGCAGAGCCCCAAGAAGCGGCTGACGTTGAGCGAGATCTGCGAGTTCATCAGCGGCCGC c.480
L Q S P K K R L T L S E I C E F I S G R p.160
. . . . . . g.7659
TTCCCCTACTACCGGGAGAAGTTCCCCGCCTGGCAGAACAGCATCCGCCACAACCTCTCT c.540
F P Y Y R E K F P A W Q N S I R H N L S p.180
. . . . . . g.7719
CTCAACGACTGCTTCGTCAAGATCCCCCGCGAGCCGGGCAACCCGGGCAAGGGCAACTAC c.600
L N D C F V K I P R E P G N P G K G N Y p.200
. . . . . . g.7779
TGGACGCTGGACCCGGAGTCGGCCGACATGTTCGACAACGGCAGCTTCCTGCGGCGTCGC c.660
W T L D P E S A D M F D N G S F L R R R p.220
. . . . . . g.7839
AAGCGCTTCAAGCGGCAGCCCCTGCCGCCGCCGCACCCACACCCGCACCCTCACCCGGAG c.720
K R F K R Q P L P P P H P H P H P H P E p.240
. . . . . . g.7899
CTGCTGCTGCGTGGCGGGGCCGCGGCGGCGGGGGATCCCGGCGCTTTCCTGCCCGGCTTC c.780
L L L R G G A A A A G D P G A F L P G F p.260
. . . . . . g.7959
GCTGCCTACGGCGCCTACGGCTACGGCTACGGGCTGGCTCTCCCGGCCTACGGCGCACCC c.840
A A Y G A Y G Y G Y G L A L P A Y G A P p.280
. . . . . . g.8019
CCGCCGGGGCCGGCCCCGCATCCGCACCCGCACCCGCACGCCTTCGCTTTCGCCGCGGCA c.900
P P G P A P H P H P H P H A F A F A A A p.300
. . . . . . g.8079
GCCGCCGCCGCTCCTTGCCAGCTGTCGGTACCCCCAGGCCGCGCCGCCGCGCCTCCACCC c.960
A A A A P C Q L S V P P G R A A A P P P p.320
. . . . . . g.8139
GGACCTCCGACGGCCTCGGTGTTCGCAGGCGCGGGATCGGCCCCAGCTCCTGCGCCTGCC c.1020
G P P T A S V F A G A G S A P A P A P A p.340
. . . . . . g.8199
TCAGGCTCGGGCCCGGGCCCGGGCCCCGCAGGCCTGCCCGCCTTCCTGGGCGCGGAGCTG c.1080
S G S G P G P G P A G L P A F L G A E L p.360
. . . . . . g.8259
GGCTGCGCCAAAGCCTTCTACGCGGCGTCCCTGAGTCCTCCCGCAGCCGGCACCGCGGCG c.1140
G C A K A F Y A A S L S P P A A G T A A p.380
. . . . . . g.8319
GGTCTGCCCACCGCACTTCTGCGCCAGGGCCTCAAGACGGACGCGGGCGGTGGTGCAGGC c.1200
G L P T A L L R Q G L K T D A G G G A G p.400
. . . . . . g.8379
GGCGGGGGCGCCGGGGCAGGGCAGAGGCCTTCCTTCTCTATAGACCACATCATGGGCCAC c.1260
G G G A G A G Q R P S F S I D H I M G H p.420
. . . . . . g.8439
GGTGGCGGCGGGGCAGCACCCCCGGGCGCCGGCGAGGGCTCTCCGGGACCGCCATTCGCG c.1320
G G G G A A P P G A G E G S P G P P F A p.440
. . . . . . g.8499
GCAGCCGCGGGTCCTGGGGGCCAAGCCCAGGTCTTGGCCATGCTGACTGCTCCGGCCCTG c.1380
A A A G P G G Q A Q V L A M L T A P A L p.460
. . . . . . g.8559
GCTCCCGTTGCTGGCCACATTCGCCTCTCGCATCCCGGGGACGCGCTGCTGTCCTCAGGG c.1440
A P V A G H I R L S H P G D A L L S S G p.480
. . . . g.8607
TCCCGGTTTGCCAGCAAAGTCGCCGGCCTTAGTGGCTGCCACTTCTGA c.1488
S R F A S K V A G L S G C H F X p.495
. . . . . . g.8667
ccgcagcaggcccagggccggttaggtccgcactcctcagcctctcccgggagttcctgc c.*60
. . . . . . g.8727
ggtcccagcggaactcagggagtctatttatgaagtctccagaccttgggccggcacgcg c.*120
. . . . . . g.8787
tgacacggcacttcaggctccacgcacagaatctcgcagatagttgggactaagcgggct c.*180
. . . . . . g.8847
ctatcgctcagggcgacaggcccggggctacgcgaagaagtcgcaggccaagattcttta c.*240
. . . . . . g.8907
cagtttgagaaataaaagcaggggggtgggggcttcgtttttttccctgcctctgcgcct c.*300
. . . . . . g.8967
ctcggggaacacattccgggagagatgcctggccaggctccacggatcccgccagaaaca c.*360
. . . . . . g.9027
ccaacagagggtctccctttctgcctttcccctctcacttcttccccaacgttgagaccc c.*420
. . . . . . g.9087
tgcttgtccaatattataatttaaagacatctattatctgctttgtgcttaaaagaaaaa c.*480
. . . . . . g.9147
ttcaacctttttttttttttttttttttttgctgttctccaaggaagttcgtttcctctg c.*540
. . . . . . g.9207
aagcctaaaccagtgtctacgcaggcggagctgaacggagaggtgaagcagggggtcttt c.*600
. . . . . . g.9267
atattccctgcagaaaccctggatcccactccactgaggaaaatcctttctcttttgtgt c.*660
. . . . . . g.9327
ttgggtgcttttaaaggaatttctttcctttcccttggctggctgggtccagccatctcc c.*720
. . . . . . g.9387
ggccagcaaccctgtcagtgttccaccctgtcccaggccctgtgatatttattgtggcta c.*780
. . . . . . g.9447
aaggcaatgagattgggtggaagagaagggtctgggccagggactggagaggtgggggtg c.*840
. . . . . . g.9507
gagtgggcaagggcacaccctgtggcagggggtcctataattttgtgtaaatatctgtac c.*900
. . . . . . g.9567
agcgcgctgctctcggcgttctctgtccactgggtgtgcattgatttaaacttctccact c.*960
. . . . . . g.9627
gtggggaagctctgtgaaatcgtctgatggtctgtgtggaagaaaagaaaaatctgtctg c.*1020
. . . . g.9675
ccgcctatttcccattggtgtcgattgaataaatgtatgtgaacttca c.*1068
(downstream sequence)
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