(used for variant description)
(last modified February 22, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_020745.3 in the AARS2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_031952.1, covering AARS2 transcript NM_020745.3.
(upstream sequence)
g.5003
acg c.-1
. . . . . . g.5063
ATGGCAGCGTCAGTGGCAGCTGCAGCCCGGAGGCTGCGGCGGGCCATTCGAAGGTCGCCC c.60
M A A S V A A A A R R L R R A I R R S P p.20
. . . . . . g.5123
GCATGGCGGGGCCTCAGCCATCGGCCGCTCTCATCGGAGCCCCCTGCAGCCAAGGCCTCG c.120
A W R G L S H R P L S S E P P A A K A S p.40
. . . . . . g.5183
GCCGTGAGGGCCGCCTTTCTGAACTTCTTTCGGGACCGCCATGGCCACCGGCTGGTGCCC c.180
A V R A A F L N F F R D R H G H R L V P p.60
. . . . . . g.5243
TCCGCTTCCGTGCGGCCCCGCGGCGACCCCAGTTTGCTTTTTGTCAATGCGGGCATGAAC c.240
S A S V R P R G D P S L L F V N A G M N p.80
| 02 . . . . . . g.6120
CAG | TTCAAGCCAATCTTTCTGGGCACCGTGGATCCACGAAGCGAGATGGCAGGCTTCCGA c.300
Q | F K P I F L G T V D P R S E M A G F R p.100
. . . . . . g.6180
CGTGTGGCCAACAGCCAGAAATGTGTGAGAGCTGGAGGACACCATAACGACCTGGAAGAT c.360
R V A N S Q K C V R A G G H H N D L E D p.120
. . . . . . g.6240
GTGGGTCGAGACCTTTCCCATCATACCTTCTTTGAAATGCTTGGCAATTGGGCCTTTGGG c.420
V G R D L S H H T F F E M L G N W A F G p.140
. | 03 . . . . . g.6836
GGTGAATATTTTAAG | GAGGAGGCTTGTAACATGGCCTGGGAACTGCTGACTCAGGTCTAT c.480
G E Y F K | E E A C N M A W E L L T Q V Y p.160
. . . . . . g.6896
GGGATCCCTGAGGAAAGGCTCTGGATCTCCTACTTTGATGGTGACCCCAAGGCAGGGCTG c.540
G I P E E R L W I S Y F D G D P K A G L p.180
. . . . | 04 . . g.7184
GACCCAGACCTGGAGACCAGGGACATCTGGCTGAGCTTAGG | GGTGCCTGCTAGCCGTGTG c.600
D P D L E T R D I W L S L G | V P A S R V p.200
. . . . . . g.7244
CTTTCCTTTGGACCACAAGAGAACTTCTGGGAGATGGGGGATACTGGCCCTTGTGGGCCC c.660
L S F G P Q E N F W E M G D T G P C G P p.220
. . . . . . g.7304
TGTACTGAGATCCACTACGACCTTGCTGGTGGGGTGGGAGCCCCCCAGCTGGTAGAGCTT c.720
C T E I H Y D L A G G V G A P Q L V E L p.240
. . | 05 . . . g.7914
TGGAACCTGGTCTTCATGCAACACAACAG | AGAGGCAGATGGAAGCCTGCAGCCCCTGCCC c.780
W N L V F M Q H N R | E A D G S L Q P L P p.260
. . . . . . g.7974
CAGCGGCATGTGGACACAGGAATGGGCCTGGAAAGGCTGGTGGCTGTGCTGCAAGGCAAA c.840
Q R H V D T G M G L E R L V A V L Q G K p.280
. . . . . | 06 . g.10938
CACTCCACCTATGACACTGACCTCTTTTCCCCGCTGCTCAACGCCATACAGCAG | GGCTGC c.900
H S T Y D T D L F S P L L N A I Q Q | G C p.300
. . . . . . g.10998
AGGGCACCCCCTTACTTGGGCCGAGTAGGGGTGGCAGACGAGGGGCGCACAGACACAGCG c.960
R A P P Y L G R V G V A D E G R T D T A p.320
. . . . . . g.11058
TACCGCGTGGTGGCTGACCACATCCGCACACTCAGTGTCTGCATCTCTGATGGCGTCTTC c.1020
Y R V V A D H I R T L S V C I S D G V F p.340
. . | 07 . . . . g.11335
CCTGGGATGTCAGGTCCCCC | GCTGGTTCTTCGTCGGATCCTGCGTCGAGCTGTGCGTTTC c.1080
P G M S G P P | L V L R R I L R R A V R F p.360
. . . . . . g.11395
TCCATGGAGATCTTAAAGGCACCACCTGGCTTCCTAGGCAGCCTGGTACCTGTAGTGGTG c.1140
S M E I L K A P P G F L G S L V P V V V p.380
| 08 . . . | 09 . g.11947
GAGACACTG | GGAGATGCTTATCCAGAACTGCAAAGGAACTCAGCCCAG | ATCGCCAACCTG c.1200
E T L | G D A Y P E L Q R N S A Q | I A N L p.400
. . . . . . g.12007
GTGTCAGAGGACGAGGCAGCCTTCCTGGCCTCCCTGGAGCGGGGTAGGCGGATCATTGAT c.1260
V S E D E A A F L A S L E R G R R I I D p.420
. . . . | 10 . . g.12560
CGGACTCTGAGGACCCTGGGGCCTTCAGATATGTTCCCTG | CTGAAGTGGCCTGGTCCTTG c.1320
R T L R T L G P S D M F P A | E V A W S L p.440
. . . . . . g.12620
TCACTGTGTGGAGACCTGGGACTCCCCTTGGACATGGTAGAGCTGATGCTGGAGGAGAAA c.1380
S L C G D L G L P L D M V E L M L E E K p.460
. . . . . | 11 . g.13134
GGGGTCCAGCTAGACTCCGCTGGACTGGAGCGGTTGGCCCAAGAGGAGGCCCAG | CACCGG c.1440
G V Q L D S A G L E R L A Q E E A Q | H R p.480
. . . . . . g.13194
GCACGGCAGGCTGAGCCAGTTCAGAAGCAGGGATTGTGGCTTGATGTCCATGCGCTTGGG c.1500
A R Q A E P V Q K Q G L W L D V H A L G p.500
. . . . . . g.13254
GAGCTGCAGCGCCAAGGAGTGCCCCCAACTGACGACAGCCCCAAGTACAACTACTCCCTG c.1560
E L Q R Q G V P P T D D S P K Y N Y S L p.520
. | 12 . . . . g.13550
CGACCCAGCGGAAGTTATG | AGTTCGGCACCTGTGAGGCCCAGGTGTTGCAACTGTATACA c.1620
R P S G S Y E | F G T C E A Q V L Q L Y T p.540
. . . . . . g.13610
GAGGACGGGACAGCAGTGGCCTCCGTGGGGAAAGGCCAGCGCTGTGGCCTCCTCTTGGAC c.1680
E D G T A V A S V G K G Q R C G L L L D p.560
. . . . . . g.13670
AGGACCAACTTCTACGCAGAACAGGGGGGCCAGGCTTCAGACCGTGGCTACCTGGTGCGG c.1740
R T N F Y A E Q G G Q A S D R G Y L V R p.580
. | 13 . . . . . g.13841
GCAGGGCAAGAG | GACGTGCTGTTCCCAGTAGCCCGGGCCCAGGTCTGTGGAGGTTTCATC c.1800
A G Q E | D V L F P V A R A Q V C G G F I p.600
. . . . . . g.13901
CTGCATGAGGCAGTAGCCCCTGAGTGCCTGCGGTTAGGGGACCAGGTGCAGCTGCATGTG c.1860
L H E A V A P E C L R L G D Q V Q L H V p.620
| 14 . . . . . . g.14059
GATGAG | GCCTGGCGTCTAGGCTGCATGGCGAAGCATACGGCCACCCACCTGCTGAACTGG c.1920
D E | A W R L G C M A K H T A T H L L N W p.640
. . . . . . g.14119
GCACTGAGGCAGACCCTGGGCCCTGGCACAGAGCAGCAGGGCTCCCATCTCAATCCTGAG c.1980
A L R Q T L G P G T E Q Q G S H L N P E p.660
. . | 15. . . . g.14936
CAGCTGCGCTTGGATGTGACCACCCAG | ACCCCATTGACCCCAGAGCAGCTCCGGGCAGTG c.2040
Q L R L D V T T Q | T P L T P E Q L R A V p.680
. . . . . . g.14996
GAGAACACTGTGCAGGAGGCCGTGGGGCAGGATGAGGCTGTGTACATGGAGGAGGTGCCC c.2100
E N T V Q E A V G Q D E A V Y M E E V P p.700
. . . . | 16 . . g.15166
CTGGCGCTCACTGCCCAGGTCCCTGGCCTGCGCTCTCTGGATGAG | GTTTACCCAGACCCT c.2160
L A L T A Q V P G L R S L D E | V Y P D P p.720
. . . . . . g.15226
GTGCGGGTGGTATCAGTGGGGGTGCCCGTGGCCCATGCATTGGACCCAGCCTCCCAAGCC c.2220
V R V V S V G V P V A H A L D P A S Q A p.740
. . . | 17 . . . g.15441
GCACTGCAGACCTCTGTGGAGCTATGCTGTGGGAC | GCACCTGTTACGTACTGGGGCTGTA c.2280
A L Q T S V E L C C G T | H L L R T G A V p.760
. . . . . . g.15501
GGGGACCTGGTTATCATCGGGGACCGCCAGCTTTCCAAGGGCACTACCCGCCTGCTGGCC c.2340
G D L V I I G D R Q L S K G T T R L L A p.780
. . | 18 . . . . g.15849
GTCACTGGGGAGCAGGCCCAGCAG | GCCCGAGAGCTAGGCCAGAGCCTGGCCCAGGAAGTG c.2400
V T G E Q A Q Q | A R E L G Q S L A Q E V p.800
. . . . . . g.15909
AAAGCGGCCACTGAGCGGCTGAGTCTGGGGAGCCGGGATGTGGCGGAGGCACTGAGGCTG c.2460
K A A T E R L S L G S R D V A E A L R L p.820
. . | 19. . . . g.16189
TCCAAGGACATAGGACGACTCATTGAA | GCTGTGGAAACTGCTGTGATGCCCCAGTGGCAG c.2520
S K D I G R L I E | A V E T A V M P Q W Q p.840
. . . . . . g.16249
CGGCGGGAGCTGCTGGCCACAGTGAAGATGCTGCAGCGGCGTGCCAACACTGCCATCCGT c.2580
R R E L L A T V K M L Q R R A N T A I R p.860
. | 20 . . . . g.16904
AAGCTGCAAATGGGACAG | GCTGCAAAGAAAACTCAGGAGCTGCTGGAGCGGCACTCGAAG c.2640
K L Q M G Q | A A K K T Q E L L E R H S K p.880
. . . . | 21 . . g.17078
GGGCCTCTGATTGTGGACACAGTCTCTGCTGAGTCTCTCTCA | GTGCTGGTGAAGGTGGTA c.2700
G P L I V D T V S A E S L S | V L V K V V p.900
. . . . . . g.17138
CGGCAGCTGTGTGAGCAGGCCCCCAGCACGTCTGTGCTCCTACTCAGCCCCCAGCCCATG c.2760
R Q L C E Q A P S T S V L L L S P Q P M p.920
. . . | 22 . . . g.17642
GGGAAGGTGCTGTGTGCCTGTCAGGTGGCCCAG | GGTGCCATGCCCACCTTCACAGCAGAG c.2820
G K V L C A C Q V A Q | G A M P T F T A E p.940
. . . . . . g.17702
GCCTGGGCACTGGCAGTGTGCAGCCACATGGGGGGCAAGGCGTGGGGCTCACGAGTGGTG c.2880
A W A L A V C S H M G G K A W G S R V V p.960
. . . . . . g.17762
GCCCAAGGCACCGGAAGCACTACTGACCTGGAAGCTGCCCTCAGTATAGCCCAAACCTAT c.2940
A Q G T G S T T D L E A A L S I A Q T Y p.980
. g.17780
GCCCTCAGCCAGCTCTGA c.2958
A L S Q L X p.985
. . . . . . g.17840
cccaggtccgcccagggacccacatggactaaaggcaatgccaggagccctgaaggagcc c.*60
. . . . . . g.17900
agcagaaccttcccacatgctgaagcgaggactagaggctggaggccaagcagctgagcc c.*120
. . . . . . g.17960
aaagaagatcacctgggccagggcctacatgacacaaggagacatgggctagggaaggca c.*180
. . . . . . g.18020
gaactgggcccaaagacacacacccccttggtgaaagagaagacatggacaattatggct c.*240
. . . . . . g.18080
gtgactgcacattagaaattatttcactggccgggtgtggtggttcacacctgtaatcca c.*300
. . . . . . g.18140
agcactttgggaggccgaggcaggtagatcatgaggtcaggagatcaaaaccatcctggc c.*360
. . . . . . g.18200
taacatggtgaaaccccatctctactaaaaatacaaaaaattagccgggtgtggtggcac c.*420
. . . . . . g.18260
acgcctgtagtcccagctactcgggaggctgaggcagaagaatcgcttgaacctgggagg c.*480
. . . . . . g.18320
tggaggttgcagtgggccaagatcgcaccactgcactccagcctgggtgacagagcgaga c.*540
. . . . . . g.18380
ctctgtctcaaataattatttcacagaggatagcaagctccagaaggttctattaccttt c.*600
. . . . . . g.18440
aaaaaagagtagttttgcccctcccagcaacctaagaccagtctgaactcacactgtctg c.*660
. . . . . . g.18500
aaaggccacccaggatccaaatcgggccatcttcattgccatgagtgttcggacaggctc c.*720
. . . . . . g.18560
tgcgtgccaggcaacagtgggcagacaaagggctccctggctactgggaagatacagaac c.*780
. . . . . . g.18620
catcctgtgaaaatcatttcagcactggagaccttctttgctattacttctttcattaac c.*840
. . . . . . g.18680
aatgacctctaatttaaattgggccctgctggtttgttgatgaattgagcaactgagaac c.*900
. . . . . . g.18740
gtggcgggcactaaactgacagttccttccttcatggagcctgcttcatgtggaggaaac c.*960
. . . . . . g.18800
aggaaataaagcaaaagaagagggtcaggcttggtggctcatgcctataatcctggcatt c.*1020
. . . . . . g.18860
ttaggaggctgaggttggagaatcgcttgaggccagaagtgcaagaccagcctgcgcaaa c.*1080
. . . . . . g.18920
cagcaagaccctgtctacaaaaaaaaaaaaaagtaatctttatgcctcagcctcccaggt c.*1140
. . . . . . g.18980
agctgagactacccacaccttggtcccagctacttgggaggctgaggtgggaaaatcact c.*1200
. . . . . . g.19040
ttgcccaggaattcaaggccgcagtgagctatgattgcaccactgcactccaggcaacag c.*1260
. . . . . . g.19100
agtgagaccctgtcttaaaaaaaagaagggagaaagtgtcagatggtgatgaggtctggg c.*1320
. . . . . . g.19160
ggggaaatagagaatggggatcaggagtgtggatggtgatattccctcaccaagaggtga c.*1380
. . . . . . g.19220
catgtgagcagggagctgggaggtgagggtgtgacccgtgtggaaatcagggaaaagcat c.*1440
. . . . . . g.19280
tccagcctgagggaacagccaatgcagaggccgtgaggtggccagtgccactgagcagtg c.*1500
. . . . . . g.19340
agctgggataggggcaggtgaggaggctggagagcggggtcagacaaacaatatgcttat c.*1560
. . . . . . g.19400
taaaacaagttgtacagcacctgcctcaagcctgagctgaagctgaaaattggcacttca c.*1620
. . . . . . g.19460
aagcaggaggaagcagagatggaggaaagccctccttccctaccagaatgagtccacctc c.*1680
. . . . . . g.19520
agacagccagactttggacctctgcctttgttcctagatctctgttgctagatgaaggaa c.*1740
. . . . . . g.19580
agggcctcaggggatccatcttcaaatcaagggctccctggctaccaaattctgtctagt c.*1800
. . g.19601
aaaaattattcgagcagcgtg c.*1821
(downstream sequence)
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