(used for variant description)
(last modified January 23, 2022)
This file was created to facilitate the description of sequence variants on transcript NM_006852.3 in the TLK2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000017.10, covering TLK2 transcript NM_006852.3.
(upstream sequence)
. . . g.5031
gcggccgcccgggcccgggcccgcgtcgggc c.-241
. . . . . . g.5091
gcctggctctgtacgcgagcccggggatctgcggccttcgtgccccccctcccccgcccg c.-181
. . . . . . g.5151
ccctctcgtggagcccggcgccggcggcggctgcccgggcggggggttgcggcgctcagg c.-121
. . . . . . g.5211
agaggccccggctccgccccgggcctgcccagggggagagcggagcggtccgcagccggg c.-61
. . . . . . | 02 g.7101
tcgggtcggggcccctcccgggaggagcgtggagcggcggcggcggcggcggcag | cagaa c.-1
. . . . . . g.7161
ATGATGGAAGAATTGCATAGCCTGGACCCACGACGGCAGGAATTATTGGAGGCCAGGTTT c.60
M M E E L H S L D P R R Q E L L E A R F p.20
. . | 03 . . . . g.46787
ACTGGAGTAGGTGTTAGTAAG | GGACCACTTAATAGTGAGTCTTCCAACCAGAGCTTGTGC c.120
T G V G V S K | G P L N S E S S N Q S L C p.40
. . . | 04 . . . g.48206
AGCGTCGGATCCTTGAGTGATAAAGAAGTAGAG | ACTCCCGAGAAAAAGCAGAATGACCAG c.180
S V G S L S D K E V E | T P E K K Q N D Q p.60
. . . . | 05 . . g.49126
CGAAATCGGAAAAGAAAAGCTGAACCATATGAAACTAGCCAAG | GGAAAGGCACTCCTAGG c.240
R N R K R K A E P Y E T S Q G | K G T P R p.80
. . | 06. . . . g.50244
GGACATAAAATTAGTGATTACTTTGAG | TTTGCTGGGGGAAGCGCGCCAGGAACCAGCCCT c.300
G H K I S D Y F E | F A G G S A P G T S P p.100
. . . . . . g.50304
GGCAGAAGTGTTCCACCAGTTGCACGATCCTCACCGCAACATTCCTTATCCAATCCCTTA c.360
G R S V P P V A R S S P Q H S L S N P L p.120
| 07 . . . . . . g.62202
CCG | CGACGAGTAGAACAGCCCCTCTATGGTTTAGATGGCAGTGCTGCAAAGGAGGCAACG c.420
P | R R V E Q P L Y G L D G S A A K E A T p.140
. . . . . . g.62262
GAGGAGCAGTCTGCTCTGCCAACCCTCATGTCAGTGATGCTAGCAAAACCTCGGCTTGAC c.480
E E Q S A L P T L M S V M L A K P R L D p.160
. . . . . | 08 . g.78286
ACAGAGCAGCTGGCGCAAAGGGGAGCTGGCCTCTGCTTCACTTTTGTTTCA | GCTCAGCAA c.540
T E Q L A Q R G A G L C F T F V S | A Q Q p.180
. . . . . . g.78346
AACAGTCCCTCATCTACGGGATCTGGCAACACAGAGCATTCCTGCAGCTCCCAAAAACAG c.600
N S P S S T G S G N T E H S C S S Q K Q p.200
. . | 09. . . . g.79671
ATCTCCATCCAGCACAGACAGACCCAG | TCCGACCTCACAATAGAAAAAATATCTGCACTA c.660
I S I Q H R Q T Q | S D L T I E K I S A L p.220
. . . . . . g.79731
GAAAACAGTAAGAATTCTGACTTAGAGAAGAAGGAGGGAAGAATAGATGATTTATTAAGA c.720
E N S K N S D L E K K E G R I D D L L R p.240
| 10 . . . . . . g.86051
| GCCAACTGTGATTTGAGACGGCAGATTGATGAACAGCAAAAGATGCTAGAGAAATACAAG c.780
| A N C D L R R Q I D E Q Q K M L E K Y K p.260
. . . . . | 11 . g.90985
GAACGATTAAATAGATGTGTGACAATGAGCAAGAAACTCCTTATAGAAAAG | TCAAAACAA c.840
E R L N R C V T M S K K L L I E K | S K Q p.280
. . . . . . g.91045
GAGAAGATGGCGTGTAGAGATAAGAGCATGCAAGACCGCTTGAGACTGGGCCACTTTACT c.900
E K M A C R D K S M Q D R L R L G H F T p.300
. . . . . . g.91105
ACTGTCCGACACGGAGCCTCATTTACTGAACAGTGGACAGATGGTTATGCTTTTCAGAAT c.960
T V R H G A S F T E Q W T D G Y A F Q N p.320
| 12 . . . . . g.99242
CTTATCAA | GCAACAGGAAAGGATAAATTCACAGAGGGAAGAGATAGAAAGACAACGGAAA c.1020
L I K | Q Q E R I N S Q R E E I E R Q R K p.340
. . . . . . g.99302
ATGTTAGCAAAGCGGAAACCTCCTGCCATGGGTCAGGCCCCTCCTGCAACCAATGAGCAG c.1080
M L A K R K P P A M G Q A P P A T N E Q p.360
. . . . | 13 . . g.102703
AAACAGCGGAAAAGCAAGACCAATGGAGCTGAAAATGAAAC | GTTAACGTTAGCAGAATAC c.1140
K Q R K S K T N G A E N E T | L T L A E Y p.380
. . . . | 14 . g.104464
CATGAACAAGAAGAAATCTTCAAACTCAGATTAGGTCATCTTAAAAAG | GAGGAAGCAGAG c.1200
H E Q E E I F K L R L G H L K K | E E A E p.400
. . . . . . g.104524
ATCCAGGCAGAGCTGGAGAGACTAGAAAGGGTTAGAAATCTACATATCAGGGAACTAAAA c.1260
I Q A E L E R L E R V R N L H I R E L K p.420
. . | 15 . . . . g.106120
AGGATACATAATGAAGATAATTCACA | ATTTAAAGATCATCCAACGCTAAATGACAGATAT c.1320
R I H N E D N S Q | F K D H P T L N D R Y p.440
. . . . | 16 . g.112122
TTGTTGTTACATCTTTTGGGTAGAGGAGGTTTCAGTGAAGTTTACAAG | GCATTTGATCTA c.1380
L L L H L L G R G G F S E V Y K | A F D L p.460
. . . . . . g.112182
ACAGAGCAAAGATACGTAGCTGTGAAAATTCACCAGTTAAATAAAAACTGGAGAGATGAG c.1440
T E Q R Y V A V K I H Q L N K N W R D E p.480
. . | 17 . . . . g.122600
AAAAAGGAGAATTACCACAA | GCATGCATGTAGGGAATACCGGATTCATAAAGAGCTGGAT c.1500
K K E N Y H K | H A C R E Y R I H K E L D p.500
. . . . . | 18 . g.126636
CATCCCAGAATAGTTAAGCTGTATGATTACTTTTCACTGGATACTGACTC | GTTTTGTACA c.1560
H P R I V K L Y D Y F S L D T D S | F C T p.520
. . . . . . g.126696
GTATTAGAATACTGTGAGGGAAATGATCTGGACTTCTACCTGAAACAGCACAAATTAATG c.1620
V L E Y C E G N D L D F Y L K Q H K L M p.540
. . . . . . g.126756
TCGGAGAAAGAGGCCCGGTCCATTATCATGCAGATTGTGAATGCTTTAAAGTACTTAAAT c.1680
S E K E A R S I I M Q I V N A L K Y L N p.560
. . . . | 19 . . g.128037
GAAATAAAACCTCCCATCATACACTATGACCTCAAACCAG | GTAATATTCTTTTAGTAAAT c.1740
E I K P P I I H Y D L K P G | N I L L V N p.580
. . . . . . g.128097
GGTACAGCGTGTGGAGAGATAAAAATTACAGATTTTGGTCTTTCGAAGATCATGGATGAT c.1800
G T A C G E I K I T D F G L S K I M D D p.600
. . . . . | 20 g.132106
GATAGCTACAATTCAGTGGATGGCATGGAGCTAACATCACAAGGTGCTGGTACTTATTG | G c.1860
D S Y N S V D G M E L T S Q G A G T Y W | p.620
. . . . . . g.132166
TATTTACCACCAGAGTGTTTTGTGGTTGGGAAAGAACCACCAAAGATCTCAAATAAAGTT c.1920
Y L P P E C F V V G K E P P K I S N K V p.640
. . . . . | 21 . g.134025
GATGTGTGGTCGGTGGGTGTGATCTTCTATCAGTGTCTTTATGGAAGGAAG | CCTTTTGGC c.1980
D V W S V G V I F Y Q C L Y G R K | P F G p.660
. . . . . . g.134085
CATAACCAGTCTCAGCAAGACATCCTACAAGAGAATACGATTCTTAAAGCTACTGAAGTG c.2040
H N Q S Q Q D I L Q E N T I L K A T E V p.680
. . . | 22 . . g.138388
CAGTTCCCGCCAAAGCCAGTAGTAACACCTGAAGCAAAG | GCGTTTATTCGACGATGCTTG c.2100
Q F P P K P V V T P E A K | A F I R R C L p.700
. . . . . . g.138448
GCCTACCGAAAGGAGGACCGCATTGATGTCCAGCAGCTGGCCTGTGATCCCTACTTGTTG c.2160
A Y R K E D R I D V Q Q L A C D P Y L L p.720
. . . . . . g.138508
CCTCACATCCGAAAGTCAGTCTCTACAAGTAGCCCTGCTGGAGCTGCTATTGCATCAACC c.2220
P H I R K S V S T S S P A G A A I A S T p.740
. . . g.138541
TCTGGGGCGTCCAATAACAGTTCTTCTAATTGA c.2253
S G A S N N S S S N X p.750
. . . . . . g.138601
gactgactccaaggccacaaactgttcaacacacacaaagtggacaaatggcgttcagca c.*60
. . . . . . g.138661
gcgggtttggaacatagcgaatccgaatggatctgatgaaacctgtaccaggtgctttta c.*120
. . . . . . g.138721
ttttcttgcttttttcccatccatagagcatgacagcatcgattctcattgaggagaaac c.*180
. . . . . . g.138781
cttgggcagctccggccaggccttgtaggaaaaggccccgcccgaggttccagcgtcaac c.*240
. . . . . . g.138841
ggccactgtgtgtggctgctctgagtgaggaaaaaattaaaaagaaaaactggttccatg c.*300
. . . . . . g.138901
tactgtgaacttgaaaacttgcagactcaggggggtccctgatgcagtgcttcagatgaa c.*360
. . . . . . g.138961
gaatgtggacttgaaaatacagactgggctagtccagtgtctatatttaaacttgttctt c.*420
. . . . . . g.139021
ttcttttaataaagtttaggtaacatctcctgaaaagcttgtagcacaaaggctcagctg c.*480
. . . . . . g.139081
gggatggtgtttgacttcggaggaaaaaagttgctattgcccgttaaaggcactagagtt c.*540
. . . . . . g.139141
agtgttttatccctaaataatttcaatttttaaaaacatgcagcttccctctcccctttt c.*600
. . . . . . g.139201
ttatttttgaaagaatacatttggtcataaagtgaaacccgtattagcaagtacgtggca c.*660
. . . . . . g.139261
atgttcattccaatcagatgcagctttctcctccgtctggtctcctgtttgcaattgctt c.*720
. . . . . . g.139321
ccctcatctcagtagggaaaaaattgagtgggagtactgagatgtgtgggtttttgccat c.*780
. . . . . . g.139381
tggacaaagaatgaggttagaagactgcagcttggagtctctctaggttttcaactattt c.*840
. . . . . . g.139441
cttcacaatttgaacacttgacggttgtcccttttaatttatttgaagtgctattttttt c.*900
. . . . . . g.139501
aaataaaggttcatctgtccatgcagtcctcttggattctctgaatgtagtaactatgaa c.*960
. . . . . . g.139561
gctatgccaaaggtaggcagaaaatgggcttgggagccagacactccagggatcagtagt c.*1020
. . . . . . g.139621
tcctacccatagtctttgtgtgcttgctaaatggtgtacatttcttgttaaccacgttat c.*1080
. . . . . . g.139681
taaaacttgatcagcacataagctttcttctgttagatcttttggcagcaaacaaccttc c.*1140
. . . . . . g.139741
cccccaagcctctgaattttgtgggtgtgtggtggtgtgtgtctgtgtgtgcatgtacac c.*1200
. . . . . . g.139801
acacactttgtctagctcactttaaaagattcatcaaatggaattttaaaaataatctga c.*1260
. . . . . . g.139861
aaagaaatagatatttcaggccgggcctggtggttcacgcctgtaatcccagcactttgg c.*1320
. . . . . . g.139921
gaggccgaggtgggtggatcacgaggtcgggagttcgagatcagtctggtcaacatggtg c.*1380
. . . . . . g.139981
aaacgccatctctactaaaaatataaaaattagcctggcgtggtggcgtgtgcctctagt c.*1440
. . . . . . g.140041
cccagctacccgggaggctgaggcaggagaatttctggaacccaggaggcggaggttgca c.*1500
. . . . . . g.140101
gtgagccgagatggcaccactgcaatccagcctaggcaacagaatgagactctgtctcag c.*1560
. . . . . . g.140161
aaaaaaaaaaaaaaaaaaaaggagaaatagatgtttcaaatatgaacattcttttggcac c.*1620
. . . . . . g.140221
caattttcttttttaatttggttgtttctgagatgtatgatcaactgaagatggagctga c.*1680
. . . . . . g.140281
aatgggagacgggtggccccaccgtgcccttgaaacagcagagcactcctcagtagagag c.*1740
. . . . . . g.140341
ggagggagccaagagcctgaacatgtggtcgccagcttggaatgttactgacatatgtgg c.*1800
. . . . . . g.140401
cgagggcttagccagaaatatttaaagatgtagtattccggcctgtgagttgtctgggca c.*1860
. . . . . . g.140461
gggagggggagtcagaaagggtagagagctctcaaataactcatgactctagtgttcctt c.*1920
. . . . . . g.140521
tcacatgtgaacagtgtcactgatgacacattttctaggaccttcgtttgttttgtggac c.*1980
. . . . . . g.140581
ctgcctcagtctcctcagtatcaggcgatcttaagggaagatggagtgtttcaaattgga c.*2040
. . . . . . g.140641
gagaagttcatgggtaggtatcgtcctgtggaattctgaatgcaaggaagtcaaccccag c.*2100
. . . . . . g.140701
aggccttggtacccccagctttctaaaactactttattacaatttatatgtatatacaca c.*2160
. . . . . . g.140761
tgcacatataaacgtgtgcatttatgtatgtgtgtatagtaccttttttaaaaaaacatt c.*2220
. . . . . . g.140821
tcctccaagctgctaagcaaagggtctcacaggtcgagcacagtgctgagaggatggtgt c.*2280
. . . . . . g.140881
ctgcataatgaagacatggatgaagctgagaccgtgttcaaactcactgaaaacaatgaa c.*2340
. . . . . . g.140941
gttctattccttttttcttcctctccaatgatcttgcagttgatttgtttgttttttaat c.*2400
. . . . . . g.141001
tttttaacatttttttaacgttgaaaaaatgctgcgtctttctttaagccttcccagtaa c.*2460
. . . . . . g.141061
cttcctgccttttttttccccgtgggcttttaagtgaagctgcaggattttatctttcaa c.*2520
. . . . . . g.141121
tctgccctttctacccttgtcctattgaaaggatgccctcttcccttgcttttttggtct c.*2580
. . . . . . g.141181
agggcctgtttggagctaactaggcttggctgagtccgggcaagaccttcttccgaggca c.*2640
. . . . . . g.141241
tggacaagccccagagaacatgcagaacattgacctttccattgactgtctttcaagcag c.*2700
. . . . . . g.141301
ccagtgaaatcactaagtggggttcttccatgacatattttgttaatatgggtttcactt c.*2760
. . . . . . g.141361
tttccaagaatagtcccttgttgccacaatgttgatttactttacacaatgacagtatgt c.*2820
. . . . . . g.141421
attaatttgtaattaaacccatccagattgttttagccttttcccaatggggtgggggag c.*2880
. . . g.141457
ggaagaaggatattaaaataagttttaagaagcaaa c.*2916
(downstream sequence)
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