(used for variant description)
(last modified February 28, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_007170.2 in the TESK2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000001.10, covering TESK2 transcript NM_007170.2.
(upstream sequence)
. . . . g.5043
tcagtctttcgcggcccgggagctcagcagagctaccagctgc c.-361
. . . . . . g.5103
cctgttggcttcgctggtcggatcgtcctcctggccccgccaaacaggcggggggagcgg c.-301
. . . . . . g.5163
ccccgactgtggggccatggcagtagtctcctcgttcgccgccgccgctagcctagctga c.-241
. . . . . . g.5223
gtcgccggcttctgcgctaggggctcccaccgcctccgcaggctaaggagccgctgccac c.-181
. . . . . . g.5283
caacgagctgtgagggttactatgctccctctttgccgccgtctcctcctcttgcccgcg c.-121
. . . . | 02 . . g.38323
caggcacccctctggctgctcagtcctgcctcag | tgtcaaaccagaagagaagtaaaatt c.-61
. . . . . . g.38383
caacaaaaatttatgtgtggagttccttcttaaaagaagaaaaaagtgattatttagact c.-1
. . . . . . g.38443
ATGGATCGGAGCAAACGGAATTCAATTGCAGGATTTCCTCCACGTGTGGAGCGTCTTGAA c.60
M D R S K R N S I A G F P P R V E R L E p.20
. . . . . . g.38503
GAGTTTGAAGGAGGTGGTGGAGGAGAAGGAAATGTGAGCCAGGTGGGAAGAGTTTGGCCA c.120
E F E G G G G G E G N V S Q V G R V W P p.40
. . . . . . g.38563
TCTTCGTATCGAGCTCTTATAAGTGCCTTTTCCAGACTGACGCGTTTGGATGATTTCACC c.180
S S Y R A L I S A F S R L T R L D D F T p.60
. . . . | 03 . . g.74340
TGTGAAAAAATAGGGTCTGGCTTCTTTTCTGAAGTGTTCAAG | GTACGACACCGAGCTTCT c.240
C E K I G S G F F S E V F K | V R H R A S p.80
. . . . . . g.74400
GGTCAGGTGATGGCTCTTAAGATGAACACATTGAGCAGTAACCGGGCAAACATGCTGAAA c.300
G Q V M A L K M N T L S S N R A N M L K p.100
. . . . | 04 . . g.110224
GAAGTACAGCTCATGAATAGACTCTCCCATCCCAACATCCTTAG | GTTCATGGGTGTATGT c.360
E V Q L M N R L S H P N I L R | F M G V C p.120
. . . | 05 . . . g.140746
GTTCATCAAGGACAATTGCATGCACTTACAGAG | TATATCAACTCCGGGAACCTGGAACAG c.420
V H Q G Q L H A L T E | Y I N S G N L E Q p.140
. . . . . . g.140806
TTGCTAGACAGTAACCTGCATTTGCCTTGGACTGTGAGGGTAAAACTGGCCTATGACATA c.480
L L D S N L H L P W T V R V K L A Y D I p.160
. . . . . . g.140866
GCAGTGGGCCTCAGCTACCTTCACTTCAAAGGCATTTTTCATCGGGACCTCACATCTAAG c.540
A V G L S Y L H F K G I F H R D L T S K p.180
| 06 . . . . . . g.148228
| AACTGCCTGATAAAGAGGGATGAGAATGGTTACTCTGCAGTGGTAGCTGACTTTGGCCTG c.600
| N C L I K R D E N G Y S A V V A D F G L p.200
. . | 07 . . . . g.148512
GCTGAGAAGATCCCCGATGTCAG | CATGGGGAGTGAGAAGCTGGCCGTGGTGGGTTCCCCA c.660
A E K I P D V S | M G S E K L A V V G S P p.220
. . . . | 08 . g.149118
TTCTGGATGGCACCTGAGGTTCTCCGAGATGAGCCCTATAATGAAAAG | GCAGATGTGTTC c.720
F W M A P E V L R D E P Y N E K | A D V F p.240
. . . . . . g.149178
TCTTATGGTATCATCCTCTGCGAGATCATCGCCCGCATCCAGGCCGATCCGGACTATCTT c.780
S Y G I I L C E I I A R I Q A D P D Y L p.260
. | 09 . . . . . g.149437
CCCCGCACAGAG | AATTTCGGGCTGGACTATGATGCTTTCCAGCACATGGTGGGAGACTGT c.840
P R T E | N F G L D Y D A F Q H M V G D C p.280
. . . | 10 . . g.150195
CCCCCAGATTTTCTGCAACTTACTTTCAACTGCTGTAAC | ATGGATCCCAAACTGCGCCCA c.900
P P D F L Q L T F N C C N | M D P K L R P p.300
. . . . . . g.150255
TCTTTTGTGGAGATTGGGAAGACCCTGGAGGAAATTCTGAGCCGCCTACAGGAAGAAGAG c.960
S F V E I G K T L E E I L S R L Q E E E p.320
. . . | 11. . . g.150633
CAGGAGAGGGATAGGAAGCTGCAGCCCACAGCCAGGG | GACTCTTGGAGAAAGCACCTGGG c.1020
Q E R D R K L Q P T A R G | L L E K A P G p.340
. . . . . . g.150693
GTGAAGCGACTAAGCTCACTGGATGACAAGATCCCCCACAAGTCACCATGCCCAAGACGT c.1080
V K R L S S L D D K I P H K S P C P R R p.360
. . . . . . g.150753
ACCATCTGGCTGTCTCGAAGCCAGTCAGATATCTTTTCCCGTAAGCCCCCACGTACAGTG c.1140
T I W L S R S Q S D I F S R K P P R T V p.380
. . . . . . g.150813
AGTGTCTTGGACCCATACTACCGGCCACGAGATGGTGCTGCCCGCACCCCCAAAGTCAAC c.1200
S V L D P Y Y R P R D G A A R T P K V N p.400
. . . . . . g.150873
CCTTTTAGTGCTCGCCAGGACCTCATGGGGGGCAAGATCAAGTTTTTTGACCTGCCCAGC c.1260
P F S A R Q D L M G G K I K F F D L P S p.420
. . . . . . g.150933
AAGTCTGTCATCTCTCTGGTATTTGACCTGGATGCACCAGGGCCCGGAACTATGCCCCTG c.1320
K S V I S L V F D L D A P G P G T M P L p.440
. . . . . . g.150993
GCTGACTGGCAGGAGCCCCTGGCCCCACCTATTCGCCGGTGGCGTTCCTTGCCTGGTTCG c.1380
A D W Q E P L A P P I R R W R S L P G S p.460
. . . . . . g.151053
CCTGAGTTCTTGCATCAAGAGGCTTGTCCATTTGTGGGCCGGGAAGAATCGCTATCTGAT c.1440
P E F L H Q E A C P F V G R E E S L S D p.480
. . . . . . g.151113
GGGCCCCCACCACGCCTAAGTAGTCTCAAGTACAGAGTTAAAGAGATCCCACCATTCCGG c.1500
G P P P R L S S L K Y R V K E I P P F R p.500
. . . . . . g.151173
GCATCTGCCCTACCAGCTGCTCAAGCCCATGAGGCTATGGACTGCTCCATTCTCCAGGAA c.1560
A S A L P A A Q A H E A M D C S I L Q E p.520
. . . . . . g.151233
GAAAATGGTTTTGGGTCCAGGCCCCAGGGGACCAGTCCATGCCCTGCGGGTGCTTCTGAG c.1620
E N G F G S R P Q G T S P C P A G A S E p.540
. . . . . . g.151293
GAGATGGAGGTAGAAGAAAGGCCAGCAGGCTCAACTCCAGCCACCTTCTCCACCTCAGGC c.1680
E M E V E E R P A G S T P A T F S T S G p.560
. . . g.151329
ATAGGCCTGCAAACCCAGGGAAAGCAGGATGGGTGA c.1716
I G L Q T Q G K Q D G X p.571
. . . . . . g.151389
gggggtttagtccctgcctcaccttggggatggaccttcagctgaaaccatatggccccc c.*60
. . . . . . g.151449
taggtgcacagccttgattcttccctggagcctacagagcaggcaggctaggccaagcca c.*120
. . . . . . g.151509
ggctcaacttctgggctcccagtgcccattggctgtgtatgacgggaggcagcagtgaga c.*180
. . . . . . g.151569
ggccttcctagttagggccaacagctgataccaagcctctgaaatccagcaaggaggtct c.*240
. . . . . . g.151629
gcctcccaccagaccctctccagtgtacttccccagataggaccagaggatgtctagttc c.*300
. . . . . . g.151689
taggctgagctggcaggcagctattaccccggttctttccccaccccaggtctgtctctt c.*360
. . . . . . g.151749
gccttttcttggggcatataagctactgagtggaacatggagctgatcaagaggccgtaa c.*420
. . . . . . g.151809
tggtcatggctgtttcccagacctgaatattggggtgcttcttgccagtattctaagaca c.*480
. . . . . . g.151869
tttgagtaattgctgtttgcacttactgcatggtcagaccacgtcactacatttctatgc c.*540
. . . . . . g.151929
aaggggacagcaaggcagcgtggtggtcatggctcttagctaacctattcaaagaccttt c.*600
. . . . . . g.151989
tcctgttgattaatctattttcatatttataaaggagtcttaatgttctgccccataaga c.*660
. . . . . . g.152049
ctttcaaccttgtggttgggagtggggctggttttgtaggccctagggcctgcttctatg c.*720
. . . . . . g.152109
tatttatcaacatgtgatacattcaattggttaaatggtttatacagggactgatttgct c.*780
. . . . . . g.152169
tcccttcctgccatggctggagctttgggaacagtctgtccttacagagctgcaataaga c.*840
. . . . . . g.152229
aataaccaaagatgaagctggtcaaatattttcataacttgcttctgttgattttttttt c.*900
. . . . . g.152286
ttgtaaaactttcccaagacattttcagacttaaaaataaagtcagtgttacaggtg c.*957
(downstream sequence)
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