(used for variant description)
(last modified June 28, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_024809.4 in the TCTN2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_030442.1, covering TCTN2 transcript NM_024809.4.
(upstream sequence)
g.5008
atagctcc c.-121
. . . . . . g.5068
gggcgttcgcttgcaagatggcggcggcggggcagtggctgctgcgttttcgtgtctgag c.-61
. . . . . . g.5128
tccttcctgggttctaatgagggcgcggttctgctgtgcccggcccgcgaggtctaaggc c.-1
. . . . . . g.5188
ATGGGCTTCCAGCCTCCGGCCGCTCTTCTTTTGAGGCTTTTCCTTCTGCAGGGCATCCTG c.60
M G F Q P P A A L L L R L F L L Q G I L p.20
. . | 02 . . . . g.5432
AGGCTTCTGTGGGGGGACCTGG | CTTTCATCCCTCCTTTTATCCGAATGTCCGGCCCTGCG c.120
R L L W G D L A | F I P P F I R M S G P A p.40
. . . . . . g.5492
GTCAGCGCGTCCCTGGTCGGAGACACCGAGGGTGTGACCGTGTCCCTGGCAGTGCTGCAG c.180
V S A S L V G D T E G V T V S L A V L Q p.60
. | 03 . . . . . g.5993
GACGAGGCGG | GAATATTGCCAATTCCGACGTGTGGAGTGCTGAACAATGAGACGGAAGAC c.240
D E A G | I L P I P T C G V L N N E T E D p.80
. . | 04. . . . g.7535
TGGAGCGTGACTGTGATCCCCGGTGCG | AAGGTGTTGGAAGTGACAGTGAGGTGGAAGAGA c.300
W S V T V I P G A | K V L E V T V R W K R p.100
. . . . . . g.7595
GGTCTGGACTGGTGTTCCTCCAATGAGACAGATTCCTTCTCAGAGTCCCCCTGTATCCTC c.360
G L D W C S S N E T D S F S E S P C I L p.120
. . . . . . g.7655
CAGACCCTTCTGGTTTCAGCATCTCATAATTCATCCTGTTCAGCACATCTACTCATTCAA c.420
Q T L L V S A S H N S S C S A H L L I Q p.140
. . . . | 05 . . g.13093
GTGGAAATTTATGCCAACTCTTCTCTGACCCATAATGCCTCAG | AGAACGTGACTGTCATT c.480
V E I Y A N S S L T H N A S E | N V T V I p.160
. . . . . . g.13153
CCTAACCAGGTGTATCAGCCCCTTGGCCCTTGTCCTTGTAATTTAACAGCTGGAGCCTGT c.540
P N Q V Y Q P L G P C P C N L T A G A C p.180
. . | 06 . . . . g.20759
GATGTTCGCTGCTGCTGTGACCAG | GAATGCTCATCAAATTTAACAACGCTGTTCAGACGG c.600
D V R C C C D Q | E C S S N L T T L F R R p.200
. . . . . . g.20819
TCCTGCTTCACCGGCGTGTTTGGAGGAGACGTCAATCCTCCTTTTGATCAGCTCTGCTCT c.660
S C F T G V F G G D V N P P F D Q L C S p.220
. . . . . . g.20879
GCTGGGACGACGACACGTGGTGTCCCCGATTGGTTTCCCTTTCTGTGTGTGCAGTCCCCC c.720
A G T T T R G V P D W F P F L C V Q S P p.240
. . . . | 07 . . g.21954
CTTGCCAACACACCCTTCCTTGGTTACTTCTATCATGGTGCTGT | TTCCCCCAAACAGGAC c.780
L A N T P F L G Y F Y H G A V | S P K Q D p.260
. . . . . . g.22014
TCTTCCTTTGAAGTATATGTGGATACTGACGCAAAAGACTTTGCAGACTTTGGTTACAAA c.840
S S F E V Y V D T D A K D F A D F G Y K p.280
. . . . . | 08 . g.24429
CAAGGAGATCCCATTATGACTGTAAAGAAGGCATATTTTACTATTCCGCAG | GTGTCCCTG c.900
Q G D P I M T V K K A Y F T I P Q | V S L p.300
. . . . . . g.24489
GCTGGGCAGTGTATGCAGAACGCCCCAGTGGCATTTCTTCACAATTTTGATGTTAAATGC c.960
A G Q C M Q N A P V A F L H N F D V K C p.320
. . . . . . g.24549
GTTACTAATTTGGAACTATACCAAGAACGAGATGGTATTATCAATGCGAAGATAAAGAAT c.1020
V T N L E L Y Q E R D G I I N A K I K N p.340
. | 09 . . . . . g.26592
GTTGCCTTAGGAG | GCATAGTTACACCAAAAGTGATCTATGAGGAAGCAACTGACCTAGAC c.1080
V A L G G | I V T P K V I Y E E A T D L D p.360
. | 10 . . . . g.28770
AAATTCATCACCAATACAG | AAACTCCTTTAAATAACGGATCAACCCCTAGAATTGTGAAT c.1140
K F I T N T E | T P L N N G S T P R I V N p.380
. . . . . . g.28830
GTGGAAGAACATTATATTTTCAAATGGAATAATAATACCATCAGTGAAATAAATGTTAAA c.1200
V E E H Y I F K W N N N T I S E I N V K p.400
. . . | 11 . . . g.29133
ATTTTTAGGGCAGAGATTAATGCCCACCAGAAAG | GGATAATGACACAGAGATTTGTAGTA c.1260
I F R A E I N A H Q K G | I M T Q R F V V p.420
. . . . . | 12 . g.30310
AAATTTTTAAGCTATAATAGTGGTAATGAAGAAGAATTATCTGGAAATCCAG | GTTACCAA c.1320
K F L S Y N S G N E E E L S G N P G | Y Q p.440
. . . . . . g.30370
CTTGGCAAGCCTGTCCGAGCTCTAAATATCAACAGGATGAATAATGTCACGACTTTACAT c.1380
L G K P V R A L N I N R M N N V T T L H p.460
. | 13 . . . . . g.31021
CTTTGGCAATCGG | CTGGAAGGGGTCTGTGTACATCAGCAACTTTCAAACCCATTTTATTT c.1440
L W Q S A | G R G L C T S A T F K P I L F p.480
. . . . . . g.31081
GGAGAAAATGTACTCTCTGGATGCCTGTTAGAAGTCGGGATTAATGAAAATTGTACTCAG c.1500
G E N V L S G C L L E V G I N E N C T Q p.500
| 14 . . . . . . g.33646
CTCAG | GGAGAATGCTGTTGAAAGACTTGATTCATTAATACAAGCGACTCACGTTGCAATG c.1560
L R | E N A V E R L D S L I Q A T H V A M p.520
. . . . . | 15 . g.38427
AGAGGCAACTCCGATTACGCTGATCTTAGTGATGGCTGGCTCGAAATAATAC | GTGTAGAT c.1620
R G N S D Y A D L S D G W L E I I R | V D p.540
. . . . . . g.38487
GCCCCTGATCCAGGTGCAGACCCGCTGGCTAGCAGTGTGAACGGCATGTGCCTGGATATT c.1680
A P D P G A D P L A S S V N G M C L D I p.560
. . . . . . g.38547
CCTGCTCACCTGAGCATCCGCATCCTCATCTCGGATGCTGGCGCGGTGGAAGGGATTACT c.1740
P A H L S I R I L I S D A G A V E G I T p.580
. . | 16 . . . g.40644
CAGCAGGAGATACTCGGTGTAGAGACAAG | GTTCTCCTCAGTGAACTGGCAGTACCAGTGT c.1800
Q Q E I L G V E T R | F S S V N W Q Y Q C p.600
. . . . . . g.40704
GGGCTTACCTGTGAGCACAAGGCCGACCTTCTCCCTATCAGTGCATCCGTCCAGTTTATT c.1860
G L T C E H K A D L L P I S A S V Q F I p.620
. . . | 17 . . . g.40897
AAAATTCCTGCACAGTTACCCCACCCCCTGACAAG | ATTCCAGATCAATTATACAGAGTAT c.1920
K I P A Q L P H P L T R | F Q I N Y T E Y p.640
. . . . . . g.40957
GACTGCAACAGAAATGAGGTGTGTTGGCCGCAGCTTCTATATCCATGGACTCAGTATTAT c.1980
D C N R N E V C W P Q L L Y P W T Q Y Y p.660
| 18 . . . . . . g.41547
CAAG | GGGAGCTGCATTCTCAGTGTGTTGCTAAGGGCTTACTGTTGCTGTTGTTCCTCACA c.2040
Q G | E L H S Q C V A K G L L L L L F L T p.680
. . . . . g.41601
TTGGCCTTGTTCCTCAGCAACCCCTGGACCAGAATATGCAAAGCCTATAGTTAG c.2094
L A L F L S N P W T R I C K A Y S X p.697
. . . . . . g.41661
acaaccacctggcttttatttttttgagatggagttttgctcttgttgcccaggctgaag c.*60
. . . . . . g.41721
tgatctcggctcaccacaacctcctcctcttgggttcaagcgattctcctgcctcagcct c.*120
. . . . . . g.41781
ccggagaactgggattacaggcatgcaccaccacgcccggctaattttgtatttttagta c.*180
. . . . . . g.41841
gagacagggttccaccgtattggccaggctgctctcgaactcctgacctcatgatccgcc c.*240
. . . . . . g.41901
catcttggcctcccaaagtgctgagattacaggcatgagccaccgcacccggcctttttt c.*300
. . . . . . g.41961
tttttttttttttttttgaggcggggtctctgtcacccaggctggagtgcagtgcacaat c.*360
. . . . . . g.42021
ctcggctcactgcaatctctgcctcccaagcaatcctcccacctcagcctctggtgtagc c.*420
. . . . . . g.42081
tgggaccacagatgctccaccatgcctggctgtatttttggtaaagacggggtttcgcct c.*480
. . . . . . g.42141
tgttgcccagggtggtctgtaactcctgagctcagatgatctgcccacctcggcctccca c.*540
. . . . . . g.42201
aagtgctgggatcacagacgtgagccactgcgtccggtccatctgacttctcaaagactt c.*600
. . . . . . g.42261
tagaccttgacttcagtgatttgttgtagtcttgtatgcttctctataaaattttaataa c.*660
. . . g.42291
atgaaatgtcttatttttgtagaaaatttt c.*690
(downstream sequence)
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