(used for variant description)
(last modified May 9, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_001256760.1 in the HTR2C gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000023.10, covering HTR2C transcript NM_001256760.1.
(upstream sequence)
. . . g.5039
acccgcgcgaggtaggcgctctggtgcttgcggaggacg c.-781
. . . . . . g.5099
cttccttcctcagatgcaccgatcttcccgatactgcctttggagcggctagattgctag c.-721
. . . . . . g.5159
ccttggctgctccattggcctgccttgccccttacctgccgattgcatatgaactcttct c.-661
. . . . . . g.5219
tctgtctgtacatcgttgtcgtcggagtcgtcgcgatcgtcgtggcgctcgtgtgatggc c.-601
. . . . . . g.5279
cttcgtccgtttagagtagtgtagttagttaggggccaacgaagaagaaagaagacgcga c.-541
. . . . . . g.5339
ttagtgcagagatgctggaggtggtcagttactaagctagagtaagatagcggagcgaaa c.-481
. . . . . . g.5399
agagccaaacctagccggggggcgcacggtcacccaaaggaggtcgactcgccggcgctt c.-421
. . . . . . g.5459
cctatcgcgccgagctccctccattcctctccctccgccgaggcgcgaggttgcggcgcg c.-361
. . . . . . g.5519
cagcgcagcgcagctcagcgcaccgactgccgcgggctccgctgggcgattgcagccgag c.-301
. . . . . . g.5579
tccgtttctcgtctagctgccgccgcggcgaccgctgcctggtcttcctcccggacgcta c.-241
. | 02 . . . . . g.34779
gtg | ggttatcagctaacacccgcgagcatctataacataggccaactgacgccatccttc c.-181
. | 03 . . . . g.138498
aaaaacaact | gtctgggaaaaaaagaataaaaagtagtgtgagagcagaaaacgtgattg c.-121
. . . . . | 04 . g.147735
aaacacgaccaatctttcttcagtgccaaagggtggaaaag | aaaggatgatatgatgaac c.-61
. . . . . . g.147795
ctagcctgttaatttcgtcttctcaattttaaactttggttgcttaagactgaagcaatc c.-1
. . . | 05 . . . g.152177
ATGGTGAACCTGAGGAATGCGGTGCATTCATTCCT | TGTGCACCTAATTGGCCTATTGGTT c.60
M V N L R N A V H S F L | V H L I G L L V p.20
. . . . . . g.152237
TGGCAATGTGATATTTCTGTGAGCCCAGTAGCAGCTATAGTAACTGACATTTTCAATACC c.120
W Q C D I S V S P V A A I V T D I F N T p.40
. . . . . . g.152297
TCCGATGGTGGACGCTTCAAATTCCCAGACGGGGTACAAAACTGGCCAGCACTTTCAATC c.180
S D G G R F K F P D G V Q N W P A L S I p.60
. . . . . . g.152357
GTCATCATAATAATCATGACAATAGGTGGCAACATCCTTGTGATCATGGCAGTAAGCATG c.240
V I I I I M T I G G N I L V I M A V S M p.80
. . . . . . g.152417
GAAAAGAAACTGCACAATGCCACCAATTACTTCTTAATGTCCCTAGCCATTGCTGATATG c.300
E K K L H N A T N Y F L M S L A I A D M p.100
. . . . | 06 . g.269026
CTAGTGGGACTACTTGTCATGCCCCTGTCTCTCCTGGCAATCCTTTATG | ATTATGTCTGG c.360
L V G L L V M P L S L L A I L Y D | Y V W p.120
. . . . . . g.269086
CCACTACCTAGATATTTGTGCCCCGTCTGGATTTCTTTAGATGTTTTATTTTCAACAGCG c.420
P L P R Y L C P V W I S L D V L F S T A p.140
. . . . . . g.269146
TCCATCATGCACCTCTGCGCTATATCGCTGGATCGGTATGTAGCAATACGTAATCCTATT c.480
S I M H L C A I S L D R Y V A I R N P I p.160
. . . . . . g.269206
GAGCATAGCCGTTTCAATTCGCGGACTAAGGCCATCATGAAGATTGCTATTGTTTGGGCA c.540
E H S R F N S R T K A I M K I A I V W A p.180
. | 07 . . . . . g.327651
ATTTCTATAG | GTGTATCAGTTCCTATCCCTGTGATTGGACTGAGGGACGAAGAAAAGGTG c.600
I S I G | V S V P I P V I G L R D E E K V p.200
. . . . . . g.327711
TTCGTGAACAACACGACGTGCGTGCTCAACGACCCAAATTTCGTTCTTATTGGGTCCTTC c.660
F V N N T T C V L N D P N F V L I G S F p.220
. . . . . . g.327771
GTAGCTTTCTTCATACCGCTGACGATTATGGTGATTACGTATTGCCTGACCATCTACGTT c.720
V A F F I P L T I M V I T Y C L T I Y V p.240
. . . . . . g.327831
CTGCGCCGACAAGCTTTGATGTTACTGCACGGCCACACCGAGGAACCGCCTGGACTAAGT c.780
L R R Q A L M L L H G H T E E P P G L S p.260
. . . . . . g.327891
CTGGATTTCCTGAAGTGCTGCAAGAGGAATACGGCCGAGGAAGAGAACTCTGCAAACCCT c.840
L D F L K C C K R N T A E E E N S A N P p.280
. . . . . . g.327951
AACCAAGACCAGAACGCACGCCGAAGAAAGAAGAAGGAGAGACGTCCTAGGGGCACCATG c.900
N Q D Q N A R R R K K K E R R P R G T M p.300
. . . . . . g.328011
CAGGCTATCAACAATGAAAGAAAAGCTTCGAAAGTCCTTGGGATTGTTTTCTTTGTGTTT c.960
Q A I N N E R K A S K V L G I V F F V F p.320
. . . . . . g.328071
CTGATCATGTGGTGCCCATTTTTCATTACCAATATTCTGTCTGTTCTTTGTGAGAAGTCC c.1020
L I M W C P F F I T N I L S V L C E K S p.340
. . . . . . g.328131
TGTAACCAAAAGCTCATGGAAAAGCTTCTGAATGTGTTTGTTTGGATTGGCTATGTTTGT c.1080
C N Q K L M E K L L N V F V W I G Y V C p.360
. . . . . . g.328191
TCAGGAATCAATCCTCTGGTGTATACTCTGTTCAACAAAATTTACCGAAGGGCATTCTCC c.1140
S G I N P L V Y T L F N K I Y R R A F S p.380
. . . . . . g.328251
AACTATTTGCGTTGCAATTATAAGGTAGAGAAAAAGCCTCCTGTCAGGCAGATTCCAAGA c.1200
N Y L R C N Y K V E K K P P V R Q I P R p.400
. . . . . . g.328311
GTTGCCGCCACTGCTTTGTCTGGGAGGGAGCTTAATGTTAACATTTATCGGCATACCAAT c.1260
V A A T A L S G R E L N V N I Y R H T N p.420
. . . . . . g.328371
GAACCGGTGATCGAGAAAGCCAGTGACAATGAGCCCGGTATAGAGATGCAAGTTGAGAAT c.1320
E P V I E K A S D N E P G I E M Q V E N p.440
. . . . . g.328428
TTAGAGTTACCAGTAAATCCCTCCAGTGTGGTTAGCGAAAGGATTAGCAGTGTGTGA c.1377
L E L P V N P S S V V S E R I S S V X p.458
. . . . . . g.328488
gaaagaacagcacagtcttttcctacggtacaagctacatatgtaggaaaattttcttct c.*60
. . . . . . g.328548
ttaatttttctgttggtcttaactaatgtaaatattgctgtctgaaaaagtgtttttaca c.*120
. . . . . . g.328608
tatagctttgcaaccttgtactttacaatcatgcctacattagtgagatttagggttcta c.*180
. . . . . . g.328668
tatttactgtttataataggtggagactaacttattttgattgtttgatgaataaaatgt c.*240
. . . . . . g.328728
ttatttttgctctccctcccttctttccttccttttttcctttcttccttcctttctctc c.*300
. . . . . . g.328788
tttcttttgtgcatatggcaacgttcatgttcatctcaggtggcatttgcaggtgaccag c.*360
. . . . . . g.328848
aatgaggcacatgacagtggttatatttcaaccacacctaaattaacaaattcagtggac c.*420
. . . . . . g.328908
atttgttctgggttaacagtaaatatacactttacattcttgctctgctcatctacacat c.*480
. . . . . . g.328968
ataaacacagtaagataggttctgctttctgatacatctgtcagtgagtcagaggcagaa c.*540
. . . . . . g.329028
cctagtcttgttgttcatataggggcaaaaatttgacattgtcagaatgttgtgttggta c.*600
. . . . . . g.329088
tttactgcaatgtctgtccctaaacatagtggtattttaacatagcagctggttaaccgg c.*660
. . . . . . g.329148
gactacagaagtggaaggataatgagatgtaatacaccaaatagcttttcacttcttaag c.*720
. . . . . . g.329208
gacagtgttcaaattctgattattacaacaagcaaactgaaattagtgttttcattctgg c.*780
. . . . . . g.329268
tccttagtaaattcctaattctatgattaaactgggaaatgagatcccagagttatttcc c.*840
. . . . . . g.329328
caacccaggattcaacatcaattgggttttgatctcagcatcctggaaatttgtgtgctt c.*900
. . . . . . g.329388
cacacaaagtgaaattagtattttgagccttattaaaatattttcttaattatggtacct c.*960
. . . . . . g.329448
ctgtctataggacttaatttagcagtccatttttgagtaaaacttgtattggaagtatag c.*1020
. . . . . . g.329508
atggtagaaactttggaagttttacttgattaaggactacagaattgggcccttagaatg c.*1080
. . . . . . g.329568
tgaaaaaaaaaagtaattaaaaagacacttttaccgaactcgggattacagaaacacgga c.*1140
. . . . . . g.329628
gtttccatttggattttaaacaaaatttatgtcattttcagatccttccaaactctctag c.*1200
. . . . . . g.329688
tgcaggaaaaggctgcagctaatttgtgaaagtggcaagctcttcattgcactgcagtta c.*1260
. . . . . . g.329748
tttaccagaagtttaaatctttgttaaaatatagtgttgtgttacaataagtgttggcca c.*1320
. . . . . . g.329808
tcatttcattcgtgggcctgctgctctctaagaattcagtagcattttaatagtttctaa c.*1380
. . . . . . g.329868
accatgaaaagttttcaagcattgctaaagtcaggccattcagtctatgctgtgtgcaga c.*1440
. . . . . . g.329928
gtatacaagtgtttctagtaacagtatttccatacgtgcccatttcacacaactgtggat c.*1500
. . . . . . g.329988
aaattttggaagaattcatgatgctagttcttacgcttgacagttacttacacacctgag c.*1560
. . . . . . g.330048
aatgtgcctctcagtatcttaaaattggttaatgaaaaatctgaatttctaaaacccttg c.*1620
. . . . . . g.330108
gtctgtgttctcaacacacagtatagataaatccaatagtctgccacaagggcagtggaa c.*1680
. . . . . . g.330168
gagctgctgtatttgaggaaactcatacagtctctatttgatttgcaacactgccaaaca c.*1740
. . . . . . g.330228
tcagtcaattgcttgagcatgcccaaatataacatgaaagtcaagtctacctgccttgcc c.*1800
. . . . . . g.330288
tgttaggtctgttgaagtgcatgttaaaataattatatgaagcagaatgagatgatttaa c.*1860
. . . . . . g.330348
ttcttaccgaaatgaaaatggctgaagaaacacagcatgcatttagcatgagttctgcac c.*1920
. . . . . . g.330408
atacagatggtgtcctgcatgtatgccatgtatgttgcatgaatccatcgatttgtatta c.*1980
. . . . . . g.330468
atgtagggcagaatagctgatagaagaaggactgaagaaaatccttcagcaatccttaaa c.*2040
. . . . . . g.330528
aagaccatgcattcagatctgaagtagtgtgagtgttagaaaaaactggaaacatctgat c.*2100
. . . . . . g.330588
ttctgaactatcagggcaagctcatagcacatgttttacaaagaaacaaaatataaatca c.*2160
. . . . . . g.330648
cagatttccaaaagtactagcaataagttgaatgataatagctcacagcacatttgttaa c.*2220
. . . . . . g.330708
tgattcttgtgtcatcaagtagtagtacttaatagtacccaacctggtaattatcctcaa c.*2280
. . . . . . g.330768
gttgtgtgctattcgtaagttctgtgcagtttggtatgaaacaaatatactcatttggat c.*2340
. . . . . . g.330828
ataaatcttacccttcaatgttaaatctacaaacttttataaatgttttaaagaagtcca c.*2400
. . . . . . g.330888
tgtgataattgtaaaggtgatgaatttaccatcaaacaaatcattttgatgtattattat c.*2460
. . . . . . g.330948
atatgtatatctgtgtaagacacgtgcaacagactgccttatattattttctgtaattct c.*2520
. . . . . . g.331008
tctcctttgtcaaatggtattttttgtgaatggttgcaaagtgttgtcttattcctaatt c.*2580
. . . . . . g.331068
cctgtatgttatccactacaggttttatgagacttcctattaatttattaaatttattaa c.*2640
g.331074
atgttg c.*2646
(downstream sequence)
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