(used for variant description)
(last modified November 8, 2024)
This file was created to facilitate the description of sequence variants on transcript NM_001081550.1 in the THOC2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000023.10, covering THOC2 transcript NM_001081550.1.
(upstream sequence)
. . . g.5032
acatccgggcttctgctactagtgagaggaag c.-1
. . . . . . g.5092
ATGGCGGCCGCGGCTGTGGTGGTTCCCGCAGAGTGGATAAAGAACTGGGAGAAATCAGGG c.60
M A A A A V V V P A E W I K N W E K S G p.20
. | 02 . . . . . g.25195
AGAGGCGAATT | TTTGCATTTATGTCGGATCCTCAGTGAAAATAAAAGCCATGATAGTTCA c.120
R G E F | L H L C R I L S E N K S H D S S p.40
. | 03 . . . . . g.31155
ACATACAGAG | ATTTCCAGCAAGCTCTCTATGAGTTGTCATATCATGTAATTAAAGGAAAT c.180
T Y R D | F Q Q A L Y E L S Y H V I K G N p.60
. . . . | 04 . . g.34567
CTAAAGCATGAACAGGCATCTAATGTTCTTAGTGACATTAGT | GAATTTCGTGAGGATATG c.240
L K H E Q A S N V L S D I S | E F R E D M p.80
. . . | 05 . . . g.40329
CCCTCCATTCTTGCTGATGTATTCTGCATATTAG | ACATTGAGACAAATTGTTTAGAAGAA c.300
P S I L A D V F C I L D | I E T N C L E E p.100
. . . . | 06 . . g.41227
AAAAGCAAGAGAGACTATTTTACACAGTTGGTATTAGCATGTTTG | TATTTAGTTTCAGAC c.360
K S K R D Y F T Q L V L A C L | Y L V S D p.120
. . . . . . g.41287
ACAGTTCTAAAGGAACGCCTGGATCCAGAAACACTGGAATCATTAGGGCTTATCAAACAA c.420
T V L K E R L D P E T L E S L G L I K Q p.140
. . . . | 07. . g.41913
TCACAGCAATTCAATCAAAAGTCAGTTAAAATCAAGACAAAACTCTT | TTATAAGCAGCAA c.480
S Q Q F N Q K S V K I K T K L F | Y K Q Q p.160
. . . . . . g.41973
AAATTCAATTTGTTAAGAGAAGAGAATGAAGGTTATGCCAAGCTGATTGCTGAATTGGGG c.540
K F N L L R E E N E G Y A K L I A E L G p.180
. . . . . . g.42033
CAAGATTTATCTGGAAGTATTACTAGTGATTTAATCTTAGAAAATATCAAATCTTTAATA c.600
Q D L S G S I T S D L I L E N I K S L I p.200
| 08 . . . . . . g.51399
G | GATGCTTTAATCTGGATCCCAATAGAGTTTTGGATGTCATTTTAGAAGTGTTTGAATGC c.660
G | C F N L D P N R V L D V I L E V F E C p.220
. . . . . . g.51459
AGGCCAGAACACGATGACTTCTTTATATCTTTGTTAGAATCTTACATGAGTATGTGTGAA c.720
R P E H D D F F I S L L E S Y M S M C E p.240
. . . . | 09 . g.66304
CCGCAAACACTGTGTCATATTCTTGGGTTCAAATTCAAGTTTTACCAG | GAACCAAATGGC c.780
P Q T L C H I L G F K F K F Y Q | E P N G p.260
. . . . . . g.66364
GAGACACCATCATCTTTATACAGAGTTGCAGCAGTACTTCTACAATTTAATCTTATTGAT c.840
E T P S S L Y R V A A V L L Q F N L I D p.280
. . | 10 . . . . g.69778
TTAGATGATCTTTATGTACAT | CTTCTTCCGGCTGATAATTGCATTATGGATGAACACAAA c.900
L D D L Y V H | L L P A D N C I M D E H K p.300
. . . . . . g.69838
CGAGAAATTGCGGAAGCTAAGCAAATTGTTAGAAAGCTTACGATGGTTGTGTTGTCTTCT c.960
R E I A E A K Q I V R K L T M V V L S S p.320
. . . . . | 11. g.70778
GAAAAAATGGATGAGCGAGAGAAAGAAAAGGAAAAAGAAGAGGAGAAAGTAGAGAAA | CCA c.1020
E K M D E R E K E K E K E E E K V E K | P p.340
. . . . . . g.70838
CCTGATAACCAAAAACTTGGCTTGTTGGAAGCCTTATTAAAGATTGGTGATTGGCAACAT c.1080
P D N Q K L G L L E A L L K I G D W Q H p.360
. . . . . . g.70898
GCACAGAACATTATGGATCAGATGCCTCCATACTATGCAGCTTCACACAAGCTAATAGCC c.1140
A Q N I M D Q M P P Y Y A A S H K L I A p.380
. . . . . | 12 . g.72226
CTTGCTATTTGCAAGCTCATTCATATAACTATTGAGCCTCTCTACCGAAG | AGTTGGAGTT c.1200
L A I C K L I H I T I E P L Y R R | V G V p.400
. . . . . . g.72286
CCTAAAGGTGCTAAAGGCTCACCTGTTAATGCTTTGCAAAACAAGAGAGCACCAAAACAA c.1260
P K G A K G S P V N A L Q N K R A P K Q p.420
. . . . . . g.72346
GCTGAGAGCTTTGAAGATTTGAGGAGAGACGTGTTCAATATGTTCTGTTACCTTGGTCCT c.1320
A E S F E D L R R D V F N M F C Y L G P p.440
. . . . . . g.72406
CACCTTTCTCACGATCCCATTTTATTTGCAAAAGTGGTGCGCATAGGCAAGTCATTTATG c.1380
H L S H D P I L F A K V V R I G K S F M p.460
| 13 . . . . | 14 . g.93156
AAGGAG | TTTCAGTCTGATGGAAGCAAACAAGAAGATAAAGAAAAAACG | GAAGTTATCCTT c.1440
K E | F Q S D G S K Q E D K E K T | E V I L p.480
. . . . . . g.93216
AGCTGTTTGCTTAGCATTACTGACCAGGTACTACTTCCATCTCTTTCTTTGATGGACTGC c.1500
S C L L S I T D Q V L L P S L S L M D C p.500
. . . . . | 15 g.93378
AATGCTTGTATGTCTGAGGAACTATGGGGAATGTTTAAAACATTTCCATATCAGCATAG | A c.1560
N A C M S E E L W G M F K T F P Y Q H R | p.520
. . . . . . g.93438
TATCGTCTGTATGGCCAGTGGAAGAATGAAACTTATAACAGTCACCCACTTTTAGTAAAA c.1620
Y R L Y G Q W K N E T Y N S H P L L V K p.540
. . . . | 16 . . g.97450
GTTAAAGCTCAAACAATAGACAGAGCCAAATATATCATGAA | GCGCCTAACCAAGGAAAAT c.1680
V K A Q T I D R A K Y I M K | R L T K E N p.560
. . . . . . g.97510
GTGAAGCCTTCTGGAAGACAAATTGGGAAGTTGAGCCACAGCAATCCAACCATTTTGTTT c.1740
V K P S G R Q I G K L S H S N P T I L F p.580
| 17 . . . . . . g.99080
GATTAT | ATCTTGTCACAAATACAGAAGTATGATAACTTAATAACACCTGTAGTAGATTCA c.1800
D Y | I L S Q I Q K Y D N L I T P V V D S p.600
. . . . | 18 . . g.99950
TTGAAATACCTCACTTCACTGAATTATGATGTCTTGGCCT | ATTGTATCATTGAAGCTTTA c.1860
L K Y L T S L N Y D V L A Y | C I I E A L p.620
. . . . . . g.100010
GCTAATCCAGAAAAGGAAAGAATGAAACATGATGACACAACCATCTCAAGCTGGCTTCAG c.1920
A N P E K E R M K H D D T T I S S W L Q p.640
| 19 . . . . . . g.101937
A | GTCTGGCTAGTTTCTGTGGTGCAGTTTTTCGTAAATATCCAATTGATCTTGCTGGTCTT c.1980
S | L A S F C G A V F R K Y P I D L A G L p.660
. . . | 20 . . g.104005
CTTCAGTATGTTGCCAATCAGCTAAAGGCGGGCAAAAG | TTTTGACCTGCTTATATTGAAA c.2040
L Q Y V A N Q L K A G K S | F D L L I L K p.680
. . . . . . g.104065
GAAGTGGTACAAAAAATGGCAGGAATAGAAATTACAGAGGAAATGACAATGGAGCAACTA c.2100
E V V Q K M A G I E I T E E M T M E Q L p.700
. . . | 21 . . . g.105037
GAGGCTATGACTGGTGGAGAGCAGCTAAAAGCTGAG | GGTGGTTATTTTGGTCAGATCAGA c.2160
E A M T G G E Q L K A E | G G Y F G Q I R p.720
. . . . . . g.105097
AACACTAAAAAATCCTCTCAGAGATTAAAGGATGCTCTATTGGACCATGATCTTGCCCTT c.2220
N T K K S S Q R L K D A L L D H D L A L p.740
. . . . . . g.105157
CCTCTCTGTCTGCTTATGGCTCAGCAGAGAAATGGGGTAATCTTTCAGGAAGGTGGAGAG c.2280
P L C L L M A Q Q R N G V I F Q E G G E p.760
. . . | 22 . . . g.106225
AAACATTTGAAACTTGTGGGAAAGCTCTATGACCAG | TGTCATGATACCCTGGTGCAGTTT c.2340
K H L K L V G K L Y D Q | C H D T L V Q F p.780
. . . . . . g.106285
GGTGGGTTTTTAGCATCTAATCTGAGCACAGAAGATTATATAAAGCGAGTGCCTTCAATT c.2400
G G F L A S N L S T E D Y I K R V P S I p.800
. . . . . . g.106345
GATGTACTCTGTAATGAATTTCATACACCCCATGATGCAGCATTTTTCCTGTCTAGGCCA c.2460
D V L C N E F H T P H D A A F F L S R P p.820
. . | 23 . . . . g.110124
ATGTATGCCCATCATATTTCG | TCAAAGTATGATGAACTTAAAAAATCAGAAAAGGGAAGT c.2520
M Y A H H I S | S K Y D E L K K S E K G S p.840
. . . . . . g.110184
AAACAGCAACATAAAGTTCATAAGTACATTACATCATGTGAGATGGTGATGGCGCCTGTC c.2580
K Q Q H K V H K Y I T S C E M V M A P V p.860
. . . . . . g.110244
CATGAAGCAGTGGTCTCCTTACATGTTTCCAAAGTCTGGGATGACATCAGCCCTCAATTC c.2640
H E A V V S L H V S K V W D D I S P Q F p.880
. . . . . . g.110304
TATGCTACATTCTGGTCATTGACAATGTATGACCTTGCAGTTCCACACACCAGCTATGAA c.2700
Y A T F W S L T M Y D L A V P H T S Y E p.900
. . . . . | 24. g.111394
CGAGAAGTCAATAAACTTAAAGTCCAGATGAAAGCAATTGATGACAATCAGGAAATG | CCC c.2760
R E V N K L K V Q M K A I D D N Q E M | P p.920
. . . . . . g.111454
CCAAATAAAAAGAAAAAAGAGAAGGAGCGCTGTACTGCCCTTCAGGACAAGCTTCTTGAA c.2820
P N K K K K E K E R C T A L Q D K L L E p.940
. . . . . . g.111514
GAAGAAAAGAAACAGATGGAACATGTACAGAGAGTTCTACAGAGATTGAAACTGGAAAAG c.2880
E E K K Q M E H V Q R V L Q R L K L E K p.960
. | 25 . . . . g.112025
GACAACTGGCTTTTAGCAA | AATCTACCAAAAATGAGACCATCACAAAATTTCTACAGCTG c.2940
D N W L L A K | S T K N E T I T K F L Q L p.980
. . . . . . g.112085
TGTATATTTCCTCGATGTATTTTTTCAGCAATTGATGCTGTTTACTGTGCTCGTTTTGTT c.3000
C I F P R C I F S A I D A V Y C A R F V p.1000
. . . . . | 26. g.113387
GAATTGGTACATCAACAGAAAACTCCAAATTTTTCCACACTTCTTTGCTATGATCGA | GTT c.3060
E L V H Q Q K T P N F S T L L C Y D R | V p.1020
. . . . . . g.113447
TTCTCTGACATAATTTACACAGTTGCAAGCTGTACTGAAAATGAAGCCAGTCGATACGGA c.3120
F S D I I Y T V A S C T E N E A S R Y G p.1040
. . . . . . g.113507
AGGTTTCTTTGCTGCATGTTAGAGACTGTGACCAGGTGGCATAGTGATAGAGCCACATAT c.3180
R F L C C M L E T V T R W H S D R A T Y p.1060
| 27 . . . . . . g.113916
GAAAAG | GAATGTGGAAACTATCCAGGATTCCTTACCATATTACGGGCAACTGGATTTGAT c.3240
E K | E C G N Y P G F L T I L R A T G F D p.1080
. . . . . . g.113976
GGTGGAAATAAGGCTGATCAATTAGACTATGAAAATTTTCGACATGTTGTACATAAATGG c.3300
G G N K A D Q L D Y E N F R H V V H K W p.1100
. | 28 . . . . g.114124
CATTACAAACTAACCAAG | GCATCGGTACATTGCCTTGAAACAGGCGAATATACTCACATC c.3360
H Y K L T K | A S V H C L E T G E Y T H I p.1120
. . . . . . g.114184
AGGAATATCTTGATTGTGCTAACAAAAATACTTCCTTGGTACCCAAAAGTTTTGAATCTG c.3420
R N I L I V L T K I L P W Y P K V L N L p.1140
. . . . . . g.114244
GGTCAAGCTTTGGAAAGAAGAGTACACAAAATCTGCCAAGAAGAAAAAGAGAAGAGGCCA c.3480
G Q A L E R R V H K I C Q E E K E K R P p.1160
. . | 29 . . . . g.114807
GATCTATATGCATTGGCTATGGG | CTACTCTGGGCAGTTGAAAAGTAGAAAGTCATACATG c.3540
D L Y A L A M G | Y S G Q L K S R K S Y M p.1180
. . . . . . g.114867
ATACCTGAAAATGAGTTTCATCACAAAGACCCCCCTCCGAGGAATGCAGTTGCCAGTGTG c.3600
I P E N E F H H K D P P P R N A V A S V p.1200
. . . . . . g.114927
CAAAATGGGCCTGGTGGTGGGCCTTCTTCATCATCAATAGGAAGTGCATCTAAATCGGAT c.3660
Q N G P G G G P S S S S I G S A S K S D p.1220
. . | 30 . . . . g.115231
GAAAGCAGTACTGAGGAGACTG | ATAAATCAAGGGAGAGATCTCAGTGTGGTGTGAAAGCT c.3720
E S S T E E T D | K S R E R S Q C G V K A p.1240
. . . . . . g.115291
GTTAATAAAGCTTCTAGTACCACACCTAAAGGGAATTCAAGCAATGGAAATAGTGGCTCT c.3780
V N K A S S T T P K G N S S N G N S G S p.1260
| 31 . . . . . . g.116521
AACAG | CAACAAAGCTGTTAAAGAAAATGACAAAGAAAAAGGGAAAGAGAAAGAAAAAGAG c.3840
N S | N K A V K E N D K E K G K E K E K E p.1280
. . . . . . g.116581
AAAAAAGAAAAGACTCCAGCTACTACTCCAGAGGCCAGGGTACTTGGTAAAGATGGTAAA c.3900
K K E K T P A T T P E A R V L G K D G K p.1300
. . . . . . g.116641
GAAAAACCAAAGGAAGAGCGGCCAAATAAAGATGAAAAAGCAAGAGAGACCAAGGAAAGA c.3960
E K P K E E R P N K D E K A R E T K E R p.1320
. . . . . . g.116701
ACGCCGAAGTCTGACAAAGAGAAAGAAAAATTCAAGAAGGAAGAAAAAGCTAAAGATGAG c.4020
T P K S D K E K E K F K K E E K A K D E p.1340
. . . . . . g.116761
AAATTTAAGACCACTGTCCCCAACGCAGAATCAAAATCAACTCAAGAAAGGGAAAGAGAG c.4080
K F K T T V P N A E S K S T Q E R E R E p.1360
. . . . . . g.116821
AAGGAGCCATCCAGAGAAAGAGATATAGCAAAGGAAATGAAATCAAAGGAAAATGTTAAA c.4140
K E P S R E R D I A K E M K S K E N V K p.1380
. . . . . . g.116881
GGAGGAGAAAAAACACCAGTTTCTGGGTCCTTGAAATCACCTGTTCCCAGATCAGATATT c.4200
G G E K T P V S G S L K S P V P R S D I p.1400
. | 32 . . . . . g.117132
CCAGAGCCTGAAAGGG | AACAAAAACGCCGCAAAATTGATACTCACCCTTCTCCATCACAT c.4260
P E P E R E | Q K R R K I D T H P S P S H p.1420
. | 33 . . . . | 34 . g.123873
TCCTCCACAGTAAAG | GACAGTCTCATCGAACTCAAGGAATCTTCAGCAAAG | CTCTACATT c.4320
S S T V K | D S L I E L K E S S A K | L Y I p.1440
. . . . . . g.123933
AATCATACTCCTCCACCACTGTCCAAGAGTAAGGAGAGAGAAATGGACAAGAAAGATTTG c.4380
N H T P P P L S K S K E R E M D K K D L p.1460
. . . . . . g.123993
GACAAGTCAAGGGAAAGATCCAGAGAAAGAGAGAAAAAAGATGAAAAGGACAGGAAAGAG c.4440
D K S R E R S R E R E K K D E K D R K E p.1480
| 35 . . . . . g.124396
CGGAAAAGG | GATCACTCAAACAACGACCGTGAAGTGCCACCGGACTTAACCAAGAGACGT c.4500
R K R | D H S N N D R E V P P D L T K R R p.1500
. | 36 . . . . g.124538
AAAGAGGAGAATGGAACAA | TGGGGGTTTCAAAACATAAAAGTGAAAGTCCTTGTGAATCT c.4560
K E E N G T M | G V S K H K S E S P C E S p.1520
. . . . . . g.124598
CCTTATCCAAATGAGAAAGACAAGGAAAAAAATAAGTCAAAATCTTCAGGCAAAGAAAAA c.4620
P Y P N E K D K E K N K S K S S G K E K p.1540
. . . . . | 37. g.126540
GGCAGTGATTCATTTAAATCTGAGAAGATGGATAAAATCTCCTCCGGTGGCAAAAAG | GAG c.4680
G S D S F K S E K M D K I S S G G K K | E p.1560
. . . . . . g.126600
TCCAGGCATGATAAAGAAAAGATAGAAAAGAAAGAGAAACGGGACAGTTCAGGAGGAAAG c.4740
S R H D K E K I E K K E K R D S S G G K p.1580
. | 38 . . . g.127136
GAAGAGAAGAAACA | TCATAAGTCCTCGGACAAGCACAGATAA c.4782
E E K K H | H K S S D K H R X p.1593
. | 39 . . . . g.136775
tgaagactttccatcaag | gtgagatcggactggaactgttcggctgcgaccagaaattta c.*60
. . . . . . g.136835
ttttcctgagtaaattgccgagaattaagaatgaagagggccatttgcatctccttaaat c.*120
. . . . . . g.136895
tattcagttacctgctttattgctccatgtggaaaacttaaaattgttaagttgtgcatt c.*180
. . . . . . g.136955
actgtattttaacttgttgcttagtttctacatgtttattttcagtaatggctgaaagtg c.*240
. . . . . . g.137015
ttaactgttccatacttttagcacaatgtgctgcataaggttacctgtgtacagagtttt c.*300
. . . . . . g.137075
actttagattaactaaatattgcctgggttcagtttttatttccattctgaaatgcttcc c.*360
. . . . . . g.137135
tttttattgtttgaaactgaaaataaacaattgttgaacccttttgattttacctcattt c.*420
. . . . . . g.137195
taaaactgttttaatttattatttggcttgttcttaatattagtcactaaaagcagtggg c.*480
. . . . . . g.137255
agcattgtcttatgaaatgcttaggaatcattttatatagtacatgtacaacattaaacg c.*540
. . . . . . g.137315
tgtttaaaaaagaaaaaggtaccagcgatcacttgtcccttgccattttttcttgtaatt c.*600
. . . . . . g.137375
atgttagacaaatcttggcggcggggggatcaaaacataattgttttaattctacagctg c.*660
. . . . . . g.137435
taggagctttgtattgctgaactttcatctggaaaagtttcacagtgacatttttaaaag c.*720
. . . . . . g.137495
agaatttttttatctgccgaattctaccagtgtaaccttttttctaaataaacaatagtt c.*780
. g.137511
ttctcaaatggttgta c.*796
(downstream sequence)
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