(used for variant description)
(last modified May 10, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_003030.4 in the SHOX2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_047079.1, covering SHOX2 transcript NM_003030.4.
(upstream sequence)
. g.5058
cctcctccctctcctcccc c.-121
. . . . . . g.5118
cacctcctgtcccattgatgtgttattattgggggggctggagcagtaaaaaaagaagaa c.-61
. . . . . . g.5178
ggaaaaaaagagcggggctctgctggcagaggttgagcgccgggctgacgtgcggcggcg c.-1
. . . . . . g.5238
ATGGAAGAACTTACGGCGTTCGTCTCCAAGTCTTTTGACCAGAAAGTGAAGGAGAAGAAG c.60
M E E L T A F V S K S F D Q K V K E K K p.20
. . . . . . g.5298
GAGGCGATCACGTACCGGGAGGTGCTGGAGAGCGGGCCGCTGCGCGGGGCCAAGGAGCCG c.120
E A I T Y R E V L E S G P L R G A K E P p.40
. . . . . . g.5358
ACCGGCTGCACCGAGGCGGGCCGCGACGACCGCAGCAGCCCGGCAGTCCGGGCGGCCGGC c.180
T G C T E A G R D D R S S P A V R A A G p.60
. . . . . . g.5418
GGAGGCGGCGGCGGAGGAGGCGGAGGCGGCGGCGGAGGAGGCGGAGGAGGTGTAGGAGGA c.240
G G G G G G G G G G G G G G G G G V G G p.80
. . . . . . g.5478
GGAGGAGCAGGCGGAGGAGCTGGAGGAGGGCGCTCTCCCGTCCGGGAGCTGGACATGGGC c.300
G G A G G G A G G G R S P V R E L D M G p.100
. . . . | 02 . . g.6087
GCCGCCGAGAGAAGCAGGGAGCCGGGCAGCCCGCGACTGACGGAGG | GTAGAAGGAAGCCA c.360
A A E R S R E P G S P R L T E G | R R K P p.120
. . . . . | 03 g.8318
ACGAAAGCTGAGGTCCAGGCTACGCTGCTTCTCCCGGGCGAGGCGTTTCGGTTTCTTG | TG c.420
T K A E V Q A T L L L P G E A F R F L V | p.140
. . . . . . g.8378
TCCCCGGAGCTGAAAGATCGCAAAGAGGATGCGAAAGGGATGGAGGACGAAGGCCAGACC c.480
S P E L K D R K E D A K G M E D E G Q T p.160
. . . . . . g.8438
AAAATCAAGCAGAGGCGAAGTCGGACCAATTTCACCCTGGAACAACTCAATGAGCTGGAG c.540
K I K Q R R S R T N F T L E Q L N E L E p.180
. . . . . . g.8498
AGGCTTTTTGACGAGACCCACTATCCCGACGCCTTCATGCGAGAGGAACTGAGCCAGCGA c.600
R L F D E T H Y P D A F M R E E L S Q R p.200
. . | 04. . . . g.10924
CTGGGCCTGTCGGAGGCCCGAGTGCAG | GTTTGGTTTCAAAATCGAAGAGCTAAATGTAGA c.660
L G L S E A R V Q | V W F Q N R R A K C R p.220
. . | 05 . . . . g.11289
AAACAAGAAAATCAACTCCATAAAG | GTGTTCTCATAGGGGCCGCCAGCCAGTTTGAAGCT c.720
K Q E N Q L H K G | V L I G A A S Q F E A p.240
. . . . . | 06 . g.12888
TGTAGAGTCGCACCTTATGTCAACGTAGGTGCTTTAAGGATGCCATTTCAGCAG | GATAGT c.780
C R V A P Y V N V G A L R M P F Q Q | D S p.260
. . . . . . g.12948
CATTGCAACGTGACGCCCTTGTCCTTTCAGGTTCAGGCGCAGCTGCAGCTGGACAGCGCT c.840
H C N V T P L S F Q V Q A Q L Q L D S A p.280
. . . . . . g.13008
GTGGCGCACGCGCACCACCACCTGCATCCGCACCTGGCCGCGCACGCGCCCTACATGATG c.900
V A H A H H H L H P H L A A H A P Y M M p.300
. . . . . . g.13068
TTCCCAGCACCGCCCTTCGGACTGCCGCTCGCCACGCTGGCCGCGGATTCGGCTTCCGCC c.960
F P A P P F G L P L A T L A A D S A S A p.320
. . . . . . g.13128
GCCTCGGTAGTGGCGGCCGCAGCAGCCGCCAAGACCACCAGCAAGAACTCCAGCATCGCC c.1020
A S V V A A A A A A K T T S K N S S I A p.340
. . . . g.13176
GATCTCAGACTGAAAGCCAAAAAGCACGCCGCAGCCCTGGGTCTGTGA c.1068
D L R L K A K K H A A A L G L X p.355
. . . . . . g.13236
cgccaacgccagcaccaatgtcgcgcctgtcccgcggcactcagcctgcacgccctccgc c.*60
. . . . . . g.13296
gccccgctgcttctccgttacccctttgagacctcgggagccggccctcttcccgcctca c.*120
. . . . . . g.13356
ctgaccatccctcgtcccctatcgcatcttggactcggaaagccagactccacgcaggac c.*180
. . . . . . g.13416
cagggatctcacgaggcacgcaggctccgtggctcctgcccgttttcctactcgagggcc c.*240
. . . . . . g.13476
tagaattgggttttgtaggagcgggtttgggggagtctggagagagactggacaggggag c.*300
. . . . . . g.13536
tgctggaaccgcggagtttggctcaccgcaaagctgcaacgatggactcttgcatagaaa c.*360
. . . . . . g.13596
aaaaaatcttgttaacaatgaaaaaatgagcaaacaaaaaaatcgaaagacaaacgggag c.*420
. . . . . . g.13656
agaaaaagaggaagggaacttatttcttaactgctatttggcagaagctgaaattggaga c.*480
. . . . . . g.13716
accaaggagcaaaaacaaattttaaaattaaagtattttatacatttaaaaatatggaaa c.*540
. . . . . . g.13776
aacaacccagacgattctcgagagactggggggagttaccaacttaaatgtgtgttttta c.*600
. . . . . . g.13836
aaaatgcgctaagaaggcaaagcagaaagaagaggtatacttatttaaaaaactaagatg c.*660
. . . . . . g.13896
aaaaaagtgcgcagctgggaagttcacaggttttgaaactgacctttttctgcgaagttc c.*720
. . . . . . g.13956
acgttaacacgagaaatttgatgagagaggcgggcctccttttacgttgaatcagatgct c.*780
. . . . . . g.14016
ttgagtttaaacccaccatgtatggaagagcaagaaaagagaaaatattaaaacgaggag c.*840
. . . . . . g.14076
agagaaaaataatattaacacaaaaaaatgccacagacaatgatttctctgagaaattat c.*900
. . . . . . g.14136
tatggcaaaactgtctggactgctgacagtaaattccggtttgcatgttacttgtattcc c.*960
. . . . . . g.14196
attgatggtgtgtctcctcccacccccttatctcccatgcactcactccattttcatctt c.*1020
. . . . . . g.14256
cactatgaaaaacaataccaaaagtatctggaaattgatatatatatatccatatatata c.*1080
. . . . . . g.14316
tatcatatatttgccatatatatatatatatatatatatatatatatatatatatatttg c.*1140
. . . . . . g.14376
ccctgtctttgatcctggggaacaaaagaaaaaagtcagaaagggaaaaaattacactca c.*1200
. . . . . . g.14436
ttgtcctaagaagacagaggtgggcagaatatgtggggaaaggaaaaagaaaacaagacc c.*1260
. . . . . . g.14496
accaaatgaaataatgaaggtacagcgcctcgctgtgccagacacagtaggcgctcaatc c.*1320
. . . . . . g.14556
agtattagttcccaccattccccttttcttgtgttccttcttgttggtttcctgaagtcc c.*1380
. . . . . . g.14616
tatttgaagacagtggtttatttccccctctctatcccgtcaaattcaccttaaataaca c.*1440
. . . . . . g.14676
cccagctagatacaggcactaggtttgtgtaagatatgttgatacacacgaacaaagttt c.*1500
. . . . . . g.14736
attttgactataatgtgtggactgactttcaacatttgcattttatctcacaaaggtgta c.*1560
. . . . . . g.14796
tctattcaagtaaccttttttttttgtttgtttgtttcttttttgtttttttttttcttt c.*1620
. . . . . . g.14856
tggttgtttgtttcaattcatgtagctatttaaactgggataccttggactaagccagtc c.*1680
. . . . . . g.14916
tgtatcccaattcgctagcaagcctaagtttgtggggttttgtttttgtttttgttttac c.*1740
. . . . . . g.14976
cttctaatttacaagaaagaggaaaagctcttctaactgaactttggtatgcggttgagc c.*1800
. . . . . . g.15036
tttgtaactatttgttctccatgaaaacaaaattatttatatttgacatatttttttcta c.*1860
. . . . . . g.15096
gtgtattaagttattttaaacaaaagatgttatctcatgacgtgttgtcagtacaaaatg c.*1920
. . . . . . g.15156
tgtcgcctccaattctgttaaaccttttaaataagtgccaagttattaattgaagacact c.*1980
. . . g.15192
ttgcgatcaattgaatgaaaatatcgtttcatttga c.*2016
(downstream sequence)
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