(used for variant description)
(last modified October 23, 2023)
This file was created to facilitate the description of sequence variants on transcript NM_013433.4 in the TNPO2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000019.9, covering TNPO2 transcript NM_013433.4.
(upstream sequence)
. . . . . g.6756
gagcagagcttagggggtggggcctcggagccaggccatgtcggggctcct c.-121
. . . . . . g.6816
caagaagagggccagtgggactgctggggtcgggctggaggggatctgattgggggaagc c.-61
. . . . . | 02 . g.8019
gtctggggactgcttggggcctgattgggggacgtcgcgaggatcgg | cttgccttgcgcc c.-1
. . . . . . g.8079
ATGGACTGGCAGCCAGACGAGCAGGGCCTGCAGCAGGTCCTGCAGCTGCTCAAAGACTCA c.60
M D W Q P D E Q G L Q Q V L Q L L K D S p.20
. . . | 03 . . g.9681
CAGTCGCCCAACACAGCCACTCAGCGCATCGTGCAGGAT | AAACTCAAACAACTCAATCAG c.120
Q S P N T A T Q R I V Q D | K L K Q L N Q p.40
. . . . . | 04 . g.9823
TTTCCTGACTTCAACAACTACCTGATTTTCGTCCTGACCAGACTCAAGTCAGAAG | ATGAG c.180
F P D F N N Y L I F V L T R L K S E D | E p.60
. . . . . . g.9883
CCAACGCGCTCTCTCAGTGGCCTCATCCTCAAGAACAACGTGAAGGCACACTATCAGAGC c.240
P T R S L S G L I L K N N V K A H Y Q S p.80
. . . . . . g.9943
TTCCCACCCCCTGTGGCAGACTTCATCAAACAGGAGTGTCTCAACAACATTGGCGATGCC c.300
F P P P V A D F I K Q E C L N N I G D A p.100
. . | 05 . . . . g.13292
TCCTCGCTCATCCGAGCCACCATTG | GCATTCTCATCACCACCATCGCTTCCAAGGGTGAG c.360
S S L I R A T I G | I L I T T I A S K G E p.120
. . . . . . g.13352
CTGCAGATGTGGCCCGAGCTGCTGCCCCAGCTCTGCAACCTGCTTAACTCGGAGGATTAC c.420
L Q M W P E L L P Q L C N L L N S E D Y p.140
. | 06 . . . . . g.13506
AACACTTGTGAG | GGAGCCTTTGGAGCCCTGCAGAAGATCTGTGAAGACTCATCAGAGCTT c.480
N T C E | G A F G A L Q K I C E D S S E L p.160
. . . . . . g.13566
CTGGACAGTGACGCCCTCAACAGGCCCCTCAACATCATGATCCCCAAGTTCCTGCAGTTC c.540
L D S D A L N R P L N I M I P K F L Q F p.180
. . | 07 . . . . g.13706
TTCAAGCACTGCAGTCCCAAGATCCG | GTCCCACGCCATCGCCTGCGTGAACCAGTTCATC c.600
F K H C S P K I R | S H A I A C V N Q F I p.200
. . . . | 08 . g.13839
ATGGACCGGGCCCAGGCGCTGATGGACAATATTGACACCTTCATCGAG | CACCTATTTGCC c.660
M D R A Q A L M D N I D T F I E | H L F A p.220
. . . . . . g.13899
CTGGCTGTGGATGATGACCCCGAGGTGCGGAAGAATGTGTGCCGTGCCCTGGTGATGCTT c.720
L A V D D D P E V R K N V C R A L V M L p.240
. . . . . | 09 . g.14066
CTGGAAGTGCGGATTGACAGGCTCATCCCCCACATGCACAGCATCATCCAG | TACATGCTG c.780
L E V R I D R L I P H M H S I I Q | Y M L p.260
. . . . . . g.14126
CAGAGGACCCAGGACCATGATGAGAACGTTGCCCTTGAGGCCTGTGAGTTCTGGCTGACG c.840
Q R T Q D H D E N V A L E A C E F W L T p.280
. . . . . | 10 . g.17393
CTGGCCGAGCAGCCCATCTGCAAGGAAGTCCTGGCCTCCCATCTGGTCCA | GTTGATCCCC c.900
L A E Q P I C K E V L A S H L V Q | L I P p.300
. . . . . | 11 . g.17544
ATCTTGGTGAATGGGATGAAGTACTCGGAAATTGACATCATCCTGCTCAAG | GGGGATGTG c.960
I L V N G M K Y S E I D I I L L K | G D V p.320
. . . . . . g.17604
GAGGAGGATGAGGCTGTCCCCGACAGTGAGCAGGACATCAAGCCACGCTTCCACAAGTCA c.1020
E E D E A V P D S E Q D I K P R F H K S p.340
. . . . . . g.17664
CGCACGGTCACACTGCCCCACGAGGCTGAGCGGCCTGATGGCTCCGAGGACGCGGAGGAT c.1080
R T V T L P H E A E R P D G S E D A E D p.360
. . . | 12. . . g.18246
GACGATGATGATGATGCTCTGTCCGACTGGAATTTGA | GGAAGTGCTCAGCGGCTGCACTG c.1140
D D D D D A L S D W N L R | K C S A A A L p.380
. . . . . . g.18306
GACGTCCTCGCCAATGTCTTCCGGGAGGAACTGCTGCCCCACCTACTCCCACTACTCAAA c.1200
D V L A N V F R E E L L P H L L P L L K p.400
. . . . . . g.18366
GGCCTCCTCTTCCACCCCGAGTGGGTGGTCAAGGAGTCGGGCATCCTGGTGCTGGGCGCC c.1260
G L L F H P E W V V K E S G I L V L G A p.420
. | 13 . . . . . g.22251
ATTGCTGAGG | GCTGCATGCAGGGCATGGTGCCCTACCTGCCTGAGCTGATCCCGCACCTG c.1320
I A E G | C M Q G M V P Y L P E L I P H L p.440
. . . . . . g.22311
ATCCAGTGCCTGTCGGATAAGAAGGCCTTGGTCCGCTCCATCGCCTGCTGGACGCTGAGC c.1380
I Q C L S D K K A L V R S I A C W T L S p.460
. . . . . . g.22371
CGCTATGCCCACTGGGTGGTCAGCCAGCCACCCGACATGCACCTCAAGCCCCTGATGACA c.1440
R Y A H W V V S Q P P D M H L K P L M T p.480
. . . . . | 14 . g.22633
GAGCTGCTCAAACGCATCCTGGATGGCAACAAGAGGGTACAGGAGGCGGCCTGCAG | TGCT c.1500
E L L K R I L D G N K R V Q E A A C S | A p.500
. . . . . . g.22693
TTTGCCACCCTGGAGGAAGAGGCCTGCACGGAGCTGGTGCCCTACCTCAGCTACATCCTG c.1560
F A T L E E E A C T E L V P Y L S Y I L p.520
. . . . . . g.22753
GACACCCTTGTCTTTGCCTTTGGGAAATACCAGCACAAGAACCTGCTCATCCTCTATGAC c.1620
D T L V F A F G K Y Q H K N L L I L Y D p.540
. . . . | 15 . g.23240
GCCATTGGCACCCTGGCCGACTCTGTAGGCCACCACCTCAACCAGCCG | GAATACATCCAG c.1680
A I G T L A D S V G H H L N Q P | E Y I Q p.560
. . . . . . g.23300
AAGCTGATGCCCCCACTGATCCAGAAGTGGAATGAGCTCAAGGACGAAGACAAGGACCTC c.1740
K L M P P L I Q K W N E L K D E D K D L p.580
. | 16 . . . . . g.23442
TTCCCCCTGCTGGAG | TGTCTGTCATCGGTGGCCACCGCCCTGCAGAGTGGCTTCCTGCCT c.1800
F P L L E | C L S S V A T A L Q S G F L P p.600
. . . . . . g.23502
TACTGTGAGCCCGTCTACCAGCGCTGTGTCACCCTGGTGCAGAAGACACTGGCTCAGGCC c.1860
Y C E P V Y Q R C V T L V Q K T L A Q A p.620
| 17 . . . . . . g.23655
ATG | ATGTACACCCAGCACCCTGAGCAGTATGAGGCTCCCGACAAGGACTTCATGATCGTA c.1920
M | M Y T Q H P E Q Y E A P D K D F M I V p.640
. . . . . . g.23715
GCACTGGATCTGCTCAGCGGCCTGGCCGAGGGCCTGGGTGGTCACGTGGAGCAGCTGGTG c.1980
A L D L L S G L A E G L G G H V E Q L V p.660
. . . . | 18 . . g.25213
GCCCGCAGCAACATCATGACATTGCTGTTCCAGTGCATGCAG | GACTCGATGCCTGAGGTC c.2040
A R S N I M T L L F Q C M Q | D S M P E V p.680
. . . . . . g.25273
CGGCAGAGCTCCTTTGCCCTCCTGGGAGACCTCACCAAAGCCTGCTTCATCCATGTCAAG c.2100
R Q S S F A L L G D L T K A C F I H V K p.700
. | 19 . . . . . g.25520
CCCTGTATCG | CCGAGTTCATGCCCATTCTGGGCACCAACCTGAACCCAGAGTTCATCTCC c.2160
P C I A | E F M P I L G T N L N P E F I S p.720
. . . . | 20 . g.26089
GTCTGCAACAACGCCACCTGGGCCATTGGTGAAATCTGCATGCAGATGG | GGGCAGAGATG c.2220
V C N N A T W A I G E I C M Q M G | A E M p.740
. . . . . . g.26149
CAGCCTTATGTGCAGATGGTCCTCAACAACCTGGTGGAAATCATTAACCGACCCAACACA c.2280
Q P Y V Q M V L N N L V E I I N R P N T p.760
. . | 21 . . . . g.26884
CCCAAGACACTGCTGGAAAACACAG | CCATCACCATCGGCCGCTTGGGCTACGTGTGCCCC c.2340
P K T L L E N T A | I T I G R L G Y V C P p.780
. . . . | 22 . . g.27164
CAGGAGGTGGCACCCATGCTGCAGCAGTTCATCCGGCCTTG | GTGCACGTCCCTCAGGAAC c.2400
Q E V A P M L Q Q F I R P W | C T S L R N p.800
. . . . . . g.27224
ATCAGGGACAACGAGGAGAAGGACTCAGCCTTCCGCGGCATCTGCATGATGATCGGTGTC c.2460
I R D N E E K D S A F R G I C M M I G V p.820
. . | 23 . . . . g.27363
AACCCGGGGGGCGTTGTGCAG | GACTTTATTTTCTTCTGCGATGCTGTAGCCTCCTGGGTG c.2520
N P G G V V Q | D F I F F C D A V A S W V p.840
. . . | 24 . . . g.27567
AGCCCGAAGGATGACCTTCGGGACATGTTTTATAAG | ATTCTCCACGGCTTCAAAGACCAA c.2580
S P K D D L R D M F Y K | I L H G F K D Q p.860
. . . . . . g.27627
GTTGGGGAAGATAACTGGCAGCAGTTCTCTGAGCAATTCCCGCCGCTGCTCAAGGAGAGG c.2640
V G E D N W Q Q F S E Q F P P L L K E R p.880
. . g.27651
CTGGCGGCTTTCTATGGGGTCTAG | c.2665
L A A F Y G V X p.887
. . | 25 . . . . g.27793
gtgatcatggagactgccag | gtttctgtctgcgtcgtcgtcggagggattactggggagt c.*60
. . . . . . g.27853
gcgctgcatccggaagtcgctgtgccctggttgaggggggttagggaggagtgagtggga c.*120
. . . . . . g.27913
ctcaaatccagatgccttccccgtccgtccgtccgtccgtccatccgtccacttgccctc c.*180
. . . . . . g.27973
ctggcaggtgggtggggccaccatgctcatcctacaaacggggaggtgggggggacttct c.*240
. . . . . . g.28033
ggtgggcaagggcccctgggctctaatagggtcatctctggcagcccacttgggccagct c.*300
. . . . . . g.28093
acgtgggagggaggaattacacagctgaccgaatccggcttcggatgaggtgagggagga c.*360
. . . . . . g.28153
gcaggtcaggaggggggccctcgtagggacgcgtacactcacacggacacacatggccac c.*420
. . . . . . g.28213
acgcatgtgcgggtgccataaccggcgaggctgggccagccgctccaccatttccccgac c.*480
. . . . . . g.28273
tgcatggagacagtagaattagtgaacccctgagttaacccgtaaggccttccgtgtaac c.*540
. . . . . . g.28333
ctgcatctagagtttaagaagcttctgctgttttgccggaattggcggtgactggggagg c.*600
. . . . . . g.28393
gctgggtgggtggggggcctcaggcgggatctcggggcggggggaggaggatggtgacct c.*660
. . . . . . g.28453
tgggagtcgccctgtcagcacgcacatgcttgggacccactccacacactccctgccagc c.*720
. . . . . . g.28513
tttgttgcagcctcagctggtggtgtctccgtccttatcctagcctagctcgcagggtga c.*780
. . . . . . g.28573
gaaccactggagtggctggggctggccagaggtcaccgtttctccttcctgtgtgctcca c.*840
. . . . . . g.28633
gtggcttttgaagacactgggttgggacctttttcctgaagagagctgggtgtagccaga c.*900
. . . . . . g.28693
gctactggcacctaccccgagcatctctctctgtaagcagcttcaggggcagtccgtttc c.*960
. . . . . . g.28753
tctgtgcttctgaaacccccttctcacgtttcaggccccagttttaactcaaggcctggg c.*1020
. . . . . . g.28813
gcaggggcgtttaattgatgatgacagaggacacaggtttttgccagcaaaaaggaaaac c.*1080
. . . . . . g.28873
caaggcttggtggaagggaaaggtggtgtgtcccctgttccctattccatctccctggga c.*1140
. . . . . . g.28933
cttcctgctcatcatagtacccagtgagcccagagatcctactagactgggtcagcaatt c.*1200
. . . . . . g.28993
ctagagaaccttccggaatagtctgggaacatggtcaaggtggaaggggctcccctagag c.*1260
. . . . . . g.29053
agggtgggggtgtagttacttcccagttggccagaaaactgggccttgcagaccccctta c.*1320
. . . . . . g.29113
gcattttttccctttttttccttccctgctttctacttctttggggagccccttgtgttt c.*1380
. . . . . . g.29173
tggagtctgactggagtctcgcatcctggggcctgctccatccatccctcctgggcgcca c.*1440
. . . . . . g.29233
gaccctccatccaagccctgtgtctttccatagtcagggtcaggccctgcatctattcca c.*1500
. . . . . . g.29293
aggggcactcagtacacattccataaattagctgggtgtccctgcacgcccaccccatga c.*1560
. . . . . . g.29353
aactcgagcaggtctctggaagccatttgttaaaaaaaaaaaaaaaagttttaaaaatac c.*1620
. . . . . . g.29413
cttttaattttctggtaattccagttctttgaagcatcctctgctgggtcttggggtgtg c.*1680
. . . . . . g.29473
tggatggattggctgtctgatgggattggtaacccctcgctactcaagatggggggatac c.*1740
. . . . . . g.29533
aaacaccttcagggaaggggagcctggttcttctcgttttccttttttttttttttttta c.*1800
. . . . . . g.29593
aaaaaaaactatttaattttttaatttatttttggttgttttttgcacaatgaagtttca c.*1860
. . . . . . g.29653
gcttctcaaccttctcccctacccagggctgtggacccagactggccttgagccacagtc c.*1920
. . . . . . g.29713
cctctttccctcctcaccctcttccccctgcgggctcccgggtctgtccatttgttactg c.*1980
. . . . . . g.29773
tgctgtgctggggattggcgccgaggtggcgtgagattccacttgtgtagaactttgttg c.*2040
. . . g.29803
agtaaagatcagtttcttgtgaactcctta c.*2070
(downstream sequence)
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