(used for variant description)
(last modified December 2, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_005251.2 in the FOXC2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_012025.1, covering FOXC2 transcript NM_005251.2.
(upstream sequence)
. . g.5025
cgcgctctctcgctctcagggcccc c.-61
. . . . . . g.5085
cctcgctcccccggccgcagtccgtgcgcgagggcgccggcgagccgtctcggaagcagc c.-1
. . . . . . g.5145
ATGCAGGCGCGCTACTCCGTGTCCGACCCCAACGCCCTGGGAGTGGTGCCCTACCTGAGC c.60
M Q A R Y S V S D P N A L G V V P Y L S p.20
. . . . . . g.5205
GAGCAGAATTACTACCGGGCTGCGGGCAGCTACGGCGGCATGGCCAGCCCCATGGGCGTC c.120
E Q N Y Y R A A G S Y G G M A S P M G V p.40
. . . . . . g.5265
TATTCCGGCCACCCGGAGCAGTACAGCGCGGGGATGGGCCGCTCCTACGCGCCCTACCAC c.180
Y S G H P E Q Y S A G M G R S Y A P Y H p.60
. . . . . . g.5325
CACCACCAGCCCGCGGCGCCTAAGGACCTGGTGAAGCCGCCCTACAGCTACATCGCGCTC c.240
H H Q P A A P K D L V K P P Y S Y I A L p.80
. . . . . . g.5385
ATCACCATGGCCATCCAGAACGCGCCCGAGAAGAAGATCACCTTGAACGGCATCTACCAG c.300
I T M A I Q N A P E K K I T L N G I Y Q p.100
. . . . . . g.5445
TTCATCATGGACCGCTTCCCCTTCTACCGGGAGAACAAGCAGGGCTGGCAGAACAGCATC c.360
F I M D R F P F Y R E N K Q G W Q N S I p.120
. . . . . . g.5505
CGCCACAACCTCTCGCTCAACGAGTGCTTCGTCAAGGTGCCCCGCGACGACAAGAAGCCC c.420
R H N L S L N E C F V K V P R D D K K P p.140
. . . . . . g.5565
GGCAAGGGCAGTTACTGGACCCTGGACCCGGACTCCTACAACATGTTCGAGAACGGCAGC c.480
G K G S Y W T L D P D S Y N M F E N G S p.160
. . . . . . g.5625
TTCCTGCGGCGCCGGCGGCGCTTCAAAAAGAAGGACGTGTCCAAGGAGAAGGAGGAGCGG c.540
F L R R R R R F K K K D V S K E K E E R p.180
. . . . . . g.5685
GCCCACCTCAAGGAGCCGCCCCCGGCGGCGTCCAAGGGCGCCCCGGCCACCCCCCACCTA c.600
A H L K E P P P A A S K G A P A T P H L p.200
. . . . . . g.5745
GCGGACGCCCCCAAGGAGGCCGAGAAGAAGGTGGTGATCAAGAGCGAGGCGGCGTCCCCG c.660
A D A P K E A E K K V V I K S E A A S P p.220
. . . . . . g.5805
GCGCTGCCGGTCATCACCAAGGTGGAGACGCTGAGCCCCGAGAGCGCGCTGCAGGGCAGC c.720
A L P V I T K V E T L S P E S A L Q G S p.240
. . . . . . g.5865
CCGCGCAGCGCGGCCTCCACGCCCGCCGGCTCCCCCGACGGCTCGCTGCCGGAGCACCAC c.780
P R S A A S T P A G S P D G S L P E H H p.260
. . . . . . g.5925
GCCGCGGCGCCCAACGGGCTGCCTGGCTTCAGCGTGGAGAACATCATGACCCTGCGAACG c.840
A A A P N G L P G F S V E N I M T L R T p.280
. . . . . . g.5985
TCGCCGCCGGGCGGAGAGCTGAGCCCGGGGGCCGGACGCGCGGGCCTGGTGGTGCCGCCG c.900
S P P G G E L S P G A G R A G L V V P P p.300
. . . . . . g.6045
CTGGCGCTGCCCTACGCCGCCGCGCCGCCCGCCGCCTACGGCCAGCCGTGCGCTCAGGGC c.960
L A L P Y A A A P P A A Y G Q P C A Q G p.320
. . . . . . g.6105
CTGGAGGCCGGGGCCGCCGGGGGCTACCAGTGCAGCATGCGAGCGATGAGCCTGTACACC c.1020
L E A G A A G G Y Q C S M R A M S L Y T p.340
. . . . . . g.6165
GGGGCCGAGCGGCCGGCGCACATGTGCGTCCCGCCCGCCCTGGACGAGGCCCTCTCGGAC c.1080
G A E R P A H M C V P P A L D E A L S D p.360
. . . . . . g.6225
CACCCGAGCGGCCCCACGTCGCCCCTGAGCGCTCTCAACCTCGCCGCCGGCCAGGAGGGC c.1140
H P S G P T S P L S A L N L A A G Q E G p.380
. . . . . . g.6285
GCGCTCGCCGCCACGGGCCACCACCACCAGCACCACGGCCACCACCACCCGCAGGCGCCG c.1200
A L A A T G H H H Q H H G H H H P Q A P p.400
. . . . . . g.6345
CCGCCCCCGCCGGCTCCCCAGCCCCAGCCGACGCCGCAGCCCGGGGCCGCCGCGGCGCAG c.1260
P P P P A P Q P Q P T P Q P G A A A A Q p.420
. . . . . . g.6405
GCGGCCTCCTGGTATCTCAACCACAGCGGGGACCTGAACCACCTCCCCGGCCACACGTTC c.1320
A A S W Y L N H S G D L N H L P G H T F p.440
. . . . . . g.6465
GCGGCCCAGCAGCAAACTTTCCCCAACGTGCGGGAGATGTTCAACTCCCACCGGCTGGGG c.1380
A A Q Q Q T F P N V R E M F N S H R L G p.460
. . . . . . g.6525
ATTGAGAACTCGACCCTCGGGGAGTCCCAGGTGAGTGGCAATGCCAGCTGCCAGCTGCCC c.1440
I E N S T L G E S Q V S G N A S C Q L P p.480
. . . . . . g.6585
TACAGATCCACGCCGCCTCTCTATCGCCACGCAGCCCCCTACTCCTACGACTGCACGAAA c.1500
Y R S T P P L Y R H A A P Y S Y D C T K p.500
g.6591
TACTGA c.1506
Y X p.501
. . . . . . g.6651
cgtgtcccgggacctcccctccccggcccgctccggcttcgcttcccagccccgacccaa c.*60
. . . g.6683
ccagacaattaaggggctgcagagacgcaaaa c.*92
(downstream sequence)
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