(used for variant description)
(last modified February 25, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_025150.3 in the TARS2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000001.10, covering TARS2 transcript NM_025150.3.
(upstream sequence)
g.5007
aaggaac c.-1
. . . . . . g.5067
ATGGCCCTGTATCAGAGGTGGCGGTGTCTCCGGCTCCAAGGTTTACAGGCTTGCAGGCTA c.60
M A L Y Q R W R C L R L Q G L Q A C R L p.20
| 02 . . . . . . g.5468
CACACG | GCAGTTGTGTCGACCCCTCCACGCTGGTTGGCAGAGCGGCTTGGCCTTTTTGAG c.120
H T | A V V S T P P R W L A E R L G L F E p.40
. . . . . . g.5528
GAGCTGTGGGCTGCTCAGGTAAAGAGATTAGCAAGCATGGCACAGAAGGAACCCCGGACT c.180
E L W A A Q V K R L A S M A Q K E P R T p.60
. . . . . . g.5588
ATTAAGATATCACTTCCTGGAGGCCAGAAAATTGATGCTGTGGCATGGAACACAACCCCC c.240
I K I S L P G G Q K I D A V A W N T T P p.80
. . | 03 . . . . g.6557
TACCAACTAGCCCGGCAGATCAG | TTCAACACTGGCAGATACTGCAGTGGCTGCTCAAGTG c.300
Y Q L A R Q I S | S T L A D T A V A A Q V p.100
. . . . . . g.6617
AATGGAGAACCTTATGATCTGGAGCGGCCCTTGGAGACAGATTCTGACCTCAGATTTCTG c.360
N G E P Y D L E R P L E T D S D L R F L p.120
. . | 04. . . . g.8190
ACATTCGATTCCCCAGAGGGGAAAGCA | GTGTTCTGGCACTCCAGCACCCATGTCCTGGGG c.420
T F D S P E G K A | V F W H S S T H V L G p.140
. . . . . . g.8250
GCAGCAGCTGAACAATTCCTAGGTGCTGTTCTCTGCAGAGGTCCAAGTACAGAATATGGC c.480
A A A E Q F L G A V L C R G P S T E Y G p.160
. . . | 05 . . . g.8978
TTTTACCATGATTTCTTCCTGGGAAAGGAGAG | GACAATCCGGGGCTCAGAGCTGCCTGTT c.540
F Y H D F F L G K E R | T I R G S E L P V p.180
. . . . . . g.9038
TTGGAGCGGATTTGCCAGGAACTTACAGCTGCTGCTCGACCCTTCCGGAGGCTAGAGGCT c.600
L E R I C Q E L T A A A R P F R R L E A p.200
. . . | 06 . . . g.9184
TCACGGGATCAGCTTCGCCAGTTGTTCAAG | GATAACCCCTTTAAGCTTCACTTGATTGAG c.660
S R D Q L R Q L F K | D N P F K L H L I E p.220
. . . | 07 . . . g.9992
GAGAAAGTGACAGGTCCAACAGCAACAGTATATGG | GTGTGGCACATTGGTTGACCTTTGC c.720
E K V T G P T A T V Y G | C G T L V D L C p.240
. . . . . | 08 . g.14044
CAGGGCCCCCACCTTCGGCATACTGGACAGATTGGAGGACTGAAGCTGCTATCG | AACTCA c.780
Q G P H L R H T G Q I G G L K L L S | N S p.260
. . . . . . g.14104
TCATCCTTATGGAGGTCTTCAGGGGCCCCAGAGACACTGCAGAGAGTGTCAGGGATTTCC c.840
S S L W R S S G A P E T L Q R V S G I S p.280
. . . . . . g.14164
TTCCCCACAACAGAATTGCTGAGGGTCTGGGAAGCATGGAGGGAGGAAGCAGAATTGCGG c.900
F P T T E L L R V W E A W R E E A E L R p.300
. . | 09 . . . . g.14405
GACCACCGGCGCATTGGGAAG | GAACAGGAGCTCTTCTTCTTCCATGAACTGAGCCCTGGG c.960
D H R R I G K | E Q E L F F F H E L S P G p.320
. . . . . . g.14465
AGCTGCTTCTTCCTGCCACGAGGGACAAGGGTGTATAATGCACTAGTGGCGTTTATCAGG c.1020
S C F F L P R G T R V Y N A L V A F I R p.340
| 10 . . . . . . g.15146
| GCTGAGTATGCCCATCGTGGTTTCTCCGAGGTGAAAACTCCCACACTGTTTTCTACGAAG c.1080
| A E Y A H R G F S E V K T P T L F S T K p.360
. . . . . . g.15206
CTCTGGGAACAGTCAGGGCACTGGGAGCATTATCAGGAAGACATGTTTGCCGTGCAGCCC c.1140
L W E Q S G H W E H Y Q E D M F A V Q P p.380
. . . . . . g.15266
CCAGGCTCTGACAGGCCTCCCAGCTCCCAGAGTGACGATTCTACCAGGCATATCACAGAT c.1200
P G S D R P P S S Q S D D S T R H I T D p.400
. . . | 11 . . g.16080
ACACTCGCCCTCAAGCCTATGAACTGCCCTGCACACTG | CCTGATGTTCGCCCACCGGCCC c.1260
T L A L K P M N C P A H C | L M F A H R P p.420
. . . . . . g.16140
AGATCCTGGCGGGAACTGCCCCTGCGACTAGCTGACTTTGGGGCTCTACACCGGGCCGAA c.1320
R S W R E L P L R L A D F G A L H R A E p.440
. . . . . . g.16200
GCCTCTGGTGGTCTGGGGGGACTGACCCGACTGCGGTGCTTCCAGCAGGATGACGCTCAC c.1380
A S G G L G G L T R L R C F Q Q D D A H p.460
. . | 12 . . . . g.16492
ATCTTCTGTACAACAGATCAG | CTGGAAGCAGAGATCCAAAGCTGTCTTGATTTCCTCCGT c.1440
I F C T T D Q | L E A E I Q S C L D F L R p.480
. . . . . . g.16552
TCCGTCTATGCCGTTCTTGGCTTCTCCTTCCGCCTGGCACTGTCCACCCGGCCATCTGGC c.1500
S V Y A V L G F S F R L A L S T R P S G p.500
. . . | 13 . . g.16793
TTCCTGGGGGACCCTTGCCTTTGGGACCAGGCCGAACAG | GTCCTTAAACAGGCCCTGAAG c.1560
F L G D P C L W D Q A E Q | V L K Q A L K p.520
. . . . . | 14. g.21894
GAATTTGGAGAACCCTGGGACCTCAACTCTGGAGATGGTGCCTTCTATGGACCTAAG | ATT c.1620
E F G E P W D L N S G D G A F Y G P K | I p.540
. . . . . . g.21954
GACGTGCACCTCCACGATGCCCTGGGCCGGCCACATCAGTGTGGGACAATTCAGCTTGAC c.1680
D V H L H D A L G R P H Q C G T I Q L D p.560
. . . | 15 . . g.22210
TTCCAACTGCCCCTGAGATTTGACCTCCAGTATAAGGG | GCAGGCGGGTGCCCTGGAGCGT c.1740
F Q L P L R F D L Q Y K G | Q A G A L E R p.580
. . . . . . g.22270
CCAGTCCTCATTCACCGAGCAGTGCTCGGTTCTGTGGAAAGACTGTTGGGAGTGCTGGCA c.1800
P V L I H R A V L G S V E R L L G V L A p.600
. . | 16 . . . . g.22502
GAAAGCTGCGGGGGGAAATG | GCCACTGTGGCTGTCCCCGTTCCAGGTGGTGGTCATCCCT c.1860
E S C G G K W | P L W L S P F Q V V V I P p.620
. . . | 17 . . . g.23174
GTGGGGAGTGAGCAAGAGGAATACGCCAAAGAG | GCACAGCAGAGCCTGCGGGCTGCAGGA c.1920
V G S E Q E E Y A K E | A Q Q S L R A A G p.640
. . . . . . g.23234
CTGGTCAGTGACCTGGATGCAGACTCTGGACTGACCCTCAGCCGGAGAATCCGCCGGGCC c.1980
L V S D L D A D S G L T L S R R I R R A p.660
. . | 18 . . . g.24504
CAGCTTGCCCACTACAATTTTCAGTTTG | TGGTTGGCCAGAAAGAGCAAAGTAAGAGAACA c.2040
Q L A H Y N F Q F V | V G Q K E Q S K R T p.680
. . . . . . g.24564
GTGAACATTCGGACTCGAGATAATCGTCGCCTTGGGGAGTGGGACTTGCCTGAGGCTGTG c.2100
V N I R T R D N R R L G E W D L P E A V p.700
. . . . . g.24621
CAGCGACTGGTGGAGCTACAGAACACGAGGGTCCCAAATGCCGAAGAAATTTTCTGA c.2157
Q R L V E L Q N T R V P N A E E I F X p.718
. . . . . . g.24681
gcctttgtacatagatgaggcaaaaacctgcgagtgccatcagcctccctcacatgggag c.*60
. . . . . . g.24741
accccaacccagctgacaatgtggagcccccagaacttcagaactgtgtggaggcacatg c.*120
. . . . . . g.24801
tctgctctcctgaaaagagacttggtttggggaccccacaaaaggagggaagctgtagct c.*180
. . . g.24837
gtttggatgtgaggagaatgaaactacaaaaaaaaa c.*216
(downstream sequence)
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