(used for variant description)
(last modified May 30, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_021005.3 in the NR2F2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000015.9, covering NR2F2 transcript NM_021005.3.
(upstream sequence)
. . g.9978
gccgtactgccttttttcccctct c.-1201
. . . . . . g.10038
ttcattctttctctccgtctttttctcccccctctgcgcacgaaggatgtgcttctaggt c.-1141
. . . . . . g.10098
ggtgatctgccctcctctctctcttttatcatttctcccccgccgccggcgagttgactc c.-1081
. . . . . . g.10158
tttccctatgtgtgtgaggcggcggcggcagcagcagcagcagcggctccggcggcggca c.-1021
. . . . . . g.10218
gcagcggcagcagcgacttcagcggcggcggcggcgctagacgcagcggctccgggcccg c.-961
. . . . . . g.10278
acccggcggcttcggcggcggctccggcggcagcggcggcccgggcggcccgcagggaac c.-901
. . . . . . g.10338
ggcgagcggcctccacccagcgactgcgggcggcggcggccggagagagcgaggcgcgcg c.-841
. . . . . . g.10398
ccggacgcccggggcaggcggcggcggcggcggcccagcgccaggacgacgccgcgcagc c.-781
. . . . . . g.10458
gcccgacgcggaccactttcatgctgattcccccggacccgggcagcgctccggccactc c.-721
. . . . . . g.10518
cgcgggccgccggcctccgccccggcctgcctggctccctgggcgcgcccgcacccggcg c.-661
. . . . . . g.10578
cctccgatctcctagtcctcctgatttcgatggctttcctgaatggctgactgtgggctg c.-601
. . . . . . g.10638
ccctggacttggcccccggacagtcgcctctcctcctcctctacctcctccttcaccacc c.-541
. . . . . . g.10698
acctcctcttcctcctcctcctcctcctcctcctccgccaactcctcggctgcacaccag c.-481
. . . . . . g.10758
ctctaagagcgagagtgaacgagagagggagggagagagtgagagcgagcgagatctttg c.-421
. . . . . . g.10818
gagagatttttttttttgcctcctacttctgtcttgaagccagacaatcgacttcagctc c.-361
. . . . . . g.10878
tccctcccctccctctttctccacgttctgctcccactcgctctcctgtccccttcccct c.-301
. . . . . . g.10938
cccctcccggcggaaagccccccgaaaccaacaaagctgagccgagagaaacaaacaaaa c.-241
. . . . . . g.10998
caaacacaccgggccagacaagccatcgacaaaactttgcaaaagcaaaaacaaaaaagg c.-181
. . . . . . g.11058
aaaaactaaccaacctcaaccaaccagcccccgagccacccggggcgccctcccgcgccc c.-121
. . . . . . g.11118
tcttgcaccctcgcacacacaaaaggcggcgcgccggagcccgagacccggggagccgcc c.-61
. . . . . . g.11178
gccgccccgccgccgcccgcagccaggggagcaggaagtccggacgcagcccccatagat c.-1
. . . . . . g.11238
ATGGCAATGGTAGTCAGCACGTGGCGCGACCCCCAGGACGAGGTGCCCGGCTCACAGGGC c.60
M A M V V S T W R D P Q D E V P G S Q G p.20
. . . . . . g.11298
AGCCAGGCCTCGCAGGCGCCGCCCGTGCCCGGCCCGCCGCCCGGCGCCCCGCACACGCCA c.120
S Q A S Q A P P V P G P P P G A P H T P p.40
. . . . . . g.11358
CAGACGCCCGGCCAAGGGGGCCCAGCCAGCACGCCAGCCCAGACGGCGGCCGGTGGCCAG c.180
Q T P G Q G G P A S T P A Q T A A G G Q p.60
. . . . . . g.11418
GGCGGCCCTGGCGGCCCGGGTAGCGACAAGCAGCAGCAGCAGCAACACATCGAGTGCGTG c.240
G G P G G P G S D K Q Q Q Q Q H I E C V p.80
. . . . . . g.11478
GTGTGCGGAGACAAGTCGAGCGGCAAGCACTACGGCCAGTTCACGTGCGAGGGCTGCAAG c.300
V C G D K S S G K H Y G Q F T C E G C K p.100
. . . . . . g.11538
AGCTTCTTCAAGCGCAGCGTGCGGAGGAACCTGAGCTACACGTGCCGCGCCAACCGGAAC c.360
S F F K R S V R R N L S Y T C R A N R N p.120
. . . . . . g.11598
TGTCCCATCGACCAGCACCATCGCAACCAGTGCCAGTACTGCCGCCTCAAAAAGTGCCTC c.420
C P I D Q H H R N Q C Q Y C R L K K C L p.140
. . | 02 . . . . g.13186
AAAGTGGGCATGAGACGGGAAG | CGGTGCAGAGGGGCAGGATGCCGCCGACCCAGCCGACC c.480
K V G M R R E A | V Q R G R M P P T Q P T p.160
. . . . . . g.13246
CACGGGCAGTTCGCGCTGACCAACGGGGATCCCCTCAACTGCCACTCGTACCTGTCCGGA c.540
H G Q F A L T N G D P L N C H S Y L S G p.180
. . . . . . g.13306
TATATTTCCCTGCTGTTGCGCGCGGAGCCCTATCCCACGTCGCGCTTCGGCAGCCAATGC c.600
Y I S L L L R A E P Y P T S R F G S Q C p.200
. . . . . . g.13366
ATGCAGCCCAACAACATCATGGGTATCGAGAACATTTGCGAACTGGCCGCGAGGATGCTC c.660
M Q P N N I M G I E N I C E L A A R M L p.220
. . . . . . g.13426
TTCAGCGCCGTCGAGTGGGCCCGGAACATCCCCTTCTTCCCCGACCTGCAGATCACGGAC c.720
F S A V E W A R N I P F F P D L Q I T D p.240
. . . . . . g.13486
CAGGTGGCCCTGCTTCGCCTCACCTGGAGCGAGCTGTTTGTGTTGAATGCGGCGCAGTGC c.780
Q V A L L R L T W S E L F V L N A A Q C p.260
. . . . . . g.13546
TCCATGCCCCTCCACGTCGCCCCGCTCCTGGCCGCCGCCGGCCTGCATGCTTCGCCCATG c.840
S M P L H V A P L L A A A G L H A S P M p.280
. . . . . . g.13606
TCCGCCGACCGGGTGGTCGCCTTTATGGACCACATACGGATCTTCCAAGAGCAAGTGGAG c.900
S A D R V V A F M D H I R I F Q E Q V E p.300
. . . . . . g.13666
AAGCTCAAGGCGCTGCACGTTGACTCAGCCGAGTACAGCTGCCTCAAGGCCATAGTCCTG c.960
K L K A L H V D S A E Y S C L K A I V L p.320
. | 03 . . . . . g.16470
TTCACCTCAG | ATGCCTGTGGTCTCTCTGATGTAGCCCATGTGGAAAGCTTGCAGGAAAAG c.1020
F T S D | A C G L S D V A H V E S L Q E K p.340
. . . . . . g.16530
TCTCAGTGTGCTTTGGAAGAATACGTTAGGAGCCAGTACCCCAACCAGCCGACGAGATTC c.1080
S Q C A L E E Y V R S Q Y P N Q P T R F p.360
. . . . . . g.16590
GGAAAGCTTTTGCTTCGCCTCCCTTCCCTCCGCACCGTCTCCTCCTCAGTCATAGAGCAA c.1140
G K L L L R L P S L R T V S S S V I E Q p.380
. . . . . . g.16650
TTGTTTTTCGTCCGTTTGGTAGGTAAAACCCCCATCGAAACCCTCATCCGGGATATGTTA c.1200
L F F V R L V G K T P I E T L I R D M L p.400
. . . . g.16695
CTGTCCGGCAGCAGTTTTAACTGGCCGTATATGGCAATTCAATAA c.1245
L S G S S F N W P Y M A I Q X p.414
. . . . . . g.16755
ataaataaaataagaagggggagtgaaacagagaaagaaaaggcaaaagactggtttgtt c.*60
. . . . . . g.16815
tgcttaatttccttctgttaagaaaggatataaaaggatgttacaagtttgctaaaagaa c.*120
. . . . . . g.16875
gagaggggaagaatttaatggactgtgaatttcaaaaaaaaaaaaaaagactgtcaaatg c.*180
. . . . . . g.16935
aacttttacagaatgcattaaaaaaaaaaaaaaactcctgtgtcggtcagaacaacttgc c.*240
. . . . . . g.16995
tacttatcatttttgtataaaaaggaaattagtctttttctttttttggtaaatttttga c.*300
. . . . . . g.17055
aaaatattgctaaaagtgcatttaaggagattgggagacaattagcagaatggagaaagt c.*360
. . . . . . g.17115
aagtcttttttttttccaaattattaattgtcctgtgtctatgtacctctagctgttctt c.*420
. . . . . . g.17175
ttttgtacttttctggttccaaaccagtttattctgtggttctataataagttttgatat c.*480
. . . . . . g.17235
aatcttggcttcttaaaaactgtgtatcattaaaatatatgttctgcaagaattaaaact c.*540
. . . . . . g.17295
gagtccatgaaaataccataggaagacataaaactttaaaaggcaactcaaagatgatgg c.*600
. . . . . . g.17355
aaacgcacttacaagtggtgaccaaaatttttaggtgaagtcgagcactctaattagaga c.*660
. . . . . . g.17415
actggaggaaccacatataacacttaacttcccctaccctgcccctccccaaaagaaacc c.*720
. . . . . . g.17475
atgacaaacctagcttttaaaaaatattttaagaaagagaatgaactgtggaatttattg c.*780
. . . . . . g.17535
gcagccaaggaatgtgtccaagacacatgctgaggttttgaataaaaagtgaacttttgt c.*840
. . . . . . g.17595
aatttgaattgggtcccgcttagttcttgaattgttatgaaaatcctatatctgtttgta c.*900
. . . . . . g.17655
tatttgcaaaccctttgtattataattgttgatattttccctttttaaaaaataccattg c.*960
. . . . . . g.17715
aaatcagcatgacaaaaataacactgttggcacttataggtaacgtgattgattcagtat c.*1020
. . . . . . g.17775
cttagagtttacagtttgtgttttaaaaaaactgaaggttttttttttaagtgcaacatt c.*1080
. . . . . . g.17835
tctgtatactgtaaaagttataataactgaactgtttggtcgagtctttgtgtgttatat c.*1140
. . . . . . g.17895
tccaaggaaaattgaaagtattcagaaattaaaatattatttgatatctgaaacctggct c.*1200
. . . . . . g.17955
gtccccactcactgtctttacatctagaagagcccctgtgagctctcgcttagctggccg c.*1260
. . . . . . g.18015
ggcggggggtggtgggggggggcatttgtttactcccctcagtcagtttgttcaaaggtg c.*1320
. . . . . . g.18075
gactactgtatttgcctgtttaatttgggtgtgtgtgtgttggggggggagctgaagtta c.*1380
. . . . . . g.18135
atggtttatctatggtttaggaagtgccatactgatatagtaaaccacccccattcacct c.*1440
. . . . . . g.18195
aatcctccttttaattaaaaatggattttccaggaaaaaaaaaaaggcccttatatttgt c.*1500
. . . . . . g.18255
cacacttaagtgcctgcttagggaaggtattgtgaaaaagtattagaaatcttgagatca c.*1560
. . . . . . g.18315
gtatctattttatgatcagaaaaaaatactcttttgtacatttctgacagttactcagaa c.*1620
. . . . . . g.18375
gatcgttcaagcaagctaatcacagcattgtaactagaggacagttgtttgcagtgagtt c.*1680
. . . . . . g.18435
tttccttaagtaggtacgattttttaaaatattctgtgattctactctagcgtggttgtt c.*1740
. . . . . . g.18495
gagagagtttcaaattcagtgatacaggttctaagactgaaaggtctacttttaatgtat c.*1800
. . . . . . g.18555
atatgataacttgcagttggtttccctctcccctccccccctttaccttcagtctgtgag c.*1860
. . . . . . g.18615
agcatgaccacagggtcaagggaatcttttccattggagttatgtacataaaaacacatc c.*1920
. . . . . . g.18675
gacattttgacatttcagattgtgtggctacaatctgtactgctcttgggatcctttgtc c.*1980
. . . . . . g.18735
cttagaagccaaattaaggaagagaaagcaggacagagaaaaagaaagaaggaaggaggg c.*2040
. . . . . . g.18795
aaactttacagggtgtgctgatttggaagtagtaactatttcttttggagtctttttttc c.*2100
. . . . . . g.18855
atttttcctctttctcttttcctggtttggaggaagctcggtgctgggagcttgcaattt c.*2160
. . . . . . g.18915
tgttcttattcaaggtttccaacccacccccccaccgccagtacttcatcatgttgtggt c.*2220
. . . . . . g.18975
ttaattctaattggtgggggggggggaggactagtgagggaggtgaaagaacagggataa c.*2280
. . . . . . g.19035
ttttgtaaagtgtattaaacgttaatattcagatccagtcaatacatgcagaccagtaaa c.*2340
. . . . . . g.19095
atctgatttgtgcagagttctccatctgactctcacttatttctgtagatatatacatat c.*2400
. . . . . . g.19155
ataaatacaagtatgttcttacggcacagtattgctgacctttagttcgaggttttgtcg c.*2460
. . . . . . g.19215
gttgttgttgattttcttcctcttgcaagtgctatccatgtgagtgtgtgaagtttctct c.*2520
. . . . . . g.19275
aataagtaaaacacaggcccttttccttgtttgttttgtgttagtttattgtaaacagcc c.*2580
. . . . . . g.19335
atttgttgtaaattattattggcattaaattataatttatgattttcaaagcaaaagaca c.*2640
g.19336
a c.*2641
(downstream sequence)
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