(used for variant description)
(last modified April 9, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_018060.3 in the IARS2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_041799.1, covering IARS2 transcript NM_018060.3.
(upstream sequence)
. . . . g.5044
ggagcgcgtgcgccctcttactcggctccccttggtttcctggg c.-61
. . . . . . g.5104
gtcctgccccttcaagctggggcgggagcggaggaccccgctctcaggggttgccggacc c.-1
. . . . . . g.5164
ATGCGTTGGGGGCTGCGCCCTCGCGGGCCGGGCGCGGCCGCCCTGGCCACTGCCCGAAGT c.60
M R W G L R P R G P G A A A L A T A R S p.20
. . . . . . g.5224
TTGTGGGGGACGCCCCGCCTTCCCTGCAGCCCGGGATGGCAAGGGGCGACGAAGAGGCTT c.120
L W G T P R L P C S P G W Q G A T K R L p.40
. . . . . . g.5284
CTGGTGCGGTCGGTCTCCGGGGCCAGTAACCACCAGCCGAACTCGAATAGTGGCAGATAC c.180
L V R S V S G A S N H Q P N S N S G R Y p.60
. . . . . . g.5344
CGGGACACGGTGCTGCTGCCGCAGACGAGCTTCCCCATGAAGCTGCTGGGCCGCCAGCAG c.240
R D T V L L P Q T S F P M K L L G R Q Q p.80
. . | 02. . . . g.7024
CCGGACACGGAGCTGGAGATCCAGCAG | AAATGTGGATTTTCAGAACTTTATTCATGGCAA c.300
P D T E L E I Q Q | K C G F S E L Y S W Q p.100
. . . . . . g.7084
AGAGAAAGAAAAGTAAAGACAGAATTTTGCCTTCATGATGGACCTCCTTATGCAAACGGT c.360
R E R K V K T E F C L H D G P P Y A N G p.120
. . . | 03 . . . g.11407
GACCCTCATGTTGGACATGCTTTAAATAAG | ATTTTGAAAGACATAGCCAATCGATTCCAT c.420
D P H V G H A L N K | I L K D I A N R F H p.140
. . . . . . g.11467
ATGATGAATGGCTCCAAAATACATTTTGTGCCCGGCTGGGATTGTCATGGGTTGCCCATT c.480
M M N G S K I H F V P G W D C H G L P I p.160
. . . . . . g.11527
GAAATAAAAGTATTATCAGAACTTGGTAGAGAAGCTCAGAATCTTTCAGCTATGGAAATT c.540
E I K V L S E L G R E A Q N L S A M E I p.180
. | 04 . . . . . g.13066
AGAAAGAAAG | CTAGATCATTTGCTAAAGCAGCCATTGAGAAACAGAAATCAGCATTTATT c.600
R K K A | R S F A K A A I E K Q K S A F I p.200
. . . . . . g.13126
CGTTGGGGAATAATGGCAGATTGGAATAATTGCTACTATACATTTGATGGGAAGTATGAA c.660
R W G I M A D W N N C Y Y T F D G K Y E p.220
. . . | 05 . . g.13271
GCCAAACAGTTGAGAACTTTTTACCAAATGTATGATAAG | GGCTTGGTTTATCGATCTTAC c.720
A K Q L R T F Y Q M Y D K | G L V Y R S Y p.240
. . | 06 . . . g.13413
AAACCTGTGTTTTGGTCTCCGTCATCTAG | GACTGCATTGGCTGAAGCAGAACTTGAATAT c.780
K P V F W S P S S R | T A L A E A E L E Y p.260
. . . . . . g.13473
AATCCTGAGCATGTCAGTCGTTCAATATATGTAAAATTTCCTCTCTTAAAGCCTTCTCCA c.840
N P E H V S R S I Y V K F P L L K P S P p.280
. | 07 . . . . g.13615
AAATTGGCATCTCTTATAG | ATGGTTCATCTCCTGTTAGTATTTTGGTCTGGACCACACAA c.900
K L A S L I D | G S S P V S I L V W T T Q p.300
. . . . . | 08 . g.14344
CCTTGGACGATTCCAGCCAATGAAGCTGTTTGCTATATGCCTGAATCAAA | GTATGCTGTT c.960
P W T I P A N E A V C Y M P E S K | Y A V p.320
. . . . . . g.14404
GTGAAATGTTCTAAGTCTGGAGACCTCTACGTACTGGCGGCAGATAAAGTAGCATCTGTT c.1020
V K C S K S G D L Y V L A A D K V A S V p.340
. . . . | 09 . . g.16792
GCTTCTACTTTGGAAACAACATTTGAGACTATTTCAACACTTTCAG | GTGTAGATTTGGAA c.1080
A S T L E T T F E T I S T L S G | V D L E p.360
. . . . . . g.16852
AATGGTACTTGCAGTCATCCATTAATTCCTGATAAAGCCTCTCCTCTTTTACCTGCAAAT c.1140
N G T C S H P L I P D K A S P L L P A N p.380
. . . . . . g.16912
CATGTGACCATGGCAAAAGGAACGGGATTGGTTCACACAGCCCCAGCTCATGGTATGGAA c.1200
H V T M A K G T G L V H T A P A H G M E p.400
. . . | 10 . . . g.17972
GACTACGGTGTAGCGTCTCAGCACAACCTGCCCATG | GATTGTCTAGTGGACGAAGATGGA c.1260
D Y G V A S Q H N L P M | D C L V D E D G p.420
. . . . . . g.18032
GTTTTCACAGATGTTGCAGGTCCTGAACTTCAAAACAAGGCTGTCCTTGAAGAGGGAACT c.1320
V F T D V A G P E L Q N K A V L E E G T p.440
| 11. . . . . . g.21726
GATGTGG | TTATAAAGATGCTTCAGACTGCAAAGAATTTGTTGAAAGAGGAGAAATTGGTG c.1380
D V V | I K M L Q T A K N L L K E E K L V p.460
. . . . . . g.21786
CATAGCTATCCGTATGACTGGAGGACCAAGAAACCTGTGGTTATTCGTGCCAGCAAGCAG c.1440
H S Y P Y D W R T K K P V V I R A S K Q p.480
. . . | 12 . . g.25222
TGGTTTATAAACATCACGGATATTAAGACTGCAGCCAAG | GAATTGTTAAAAAAGGTGAAA c.1500
W F I N I T D I K T A A K | E L L K K V K p.500
. . . . . . g.25282
TTTATTCCTGGATCAGCACTGAATGGCATGGTTGAAATGATGGACAGGCGGCCATATTGG c.1560
F I P G S A L N G M V E M M D R R P Y W p.520
. . . . . . g.25342
TGTATATCAAGGCAAAGAGTTTGGGGTGTTCCAATTCCTGTGTTTCATCATAAGACCAAG c.1620
C I S R Q R V W G V P I P V F H H K T K p.540
. . | 13 . . . . g.36164
GATGAATACTTGATCAACAG | CCAAACCACTGAGCATATTGTTAAACTAGTGGAACAACAC c.1680
D E Y L I N S | Q T T E H I V K L V E Q H p.560
. . . . . . g.36224
GGCAGTGATATCTGGTGGACTCTTCCCCCTGAACAACTTCTTCCAAAAGAAGTCTTATCT c.1740
G S D I W W T L P P E Q L L P K E V L S p.580
| 14 . . . . . . g.37694
GAG | GTTGGTGGCCCTGATGCCTTGGAATATGTGCCAGGTCAGGATATTTTGGACATCTGG c.1800
E | V G G P D A L E Y V P G Q D I L D I W p.600
. . . | 15. . . g.45312
TTTGATAGCGGAACTTCATGGTCTTATGTTCTTCCAG | GTCCTGACCAAAGAGCAGATTTG c.1860
F D S G T S W S Y V L P G | P D Q R A D L p.620
. . . . . . g.45372
TACTTGGAAGGAAAAGACCAGCTCGGGGGTTGGTTTCAGTCATCCTTATTAACAAGTGTG c.1920
Y L E G K D Q L G G W F Q S S L L T S V p.640
. . | 16 . . . . g.47730
GCAGCAAGGAAGAGAGCACCTTATAA | GACAGTGATTGTTCATGGATTTACCCTTGGAGAA c.1980
A A R K R A P Y K | T V I V H G F T L G E p.660
. . . . . . g.47790
AAGGGAGAAAAGATGTCCAAGTCTCTTGGGAATGTCATTCATCCTGATGTTGTCGTTAAT c.2040
K G E K M S K S L G N V I H P D V V V N p.680
| 17 . . . . . g.48856
GGAGGACAA | GATCAAAGCAAAGAGCCTCCGTATGGTGCTGATGTCCTTCGCTGGTGGGTA c.2100
G G Q | D Q S K E P P Y G A D V L R W W V p.700
. . . . . . g.48916
GCTGATTCCAATGTCTTCACCGAAGTTGCAATTGGCCCATCCGTGCTCAATGCTGCCAGA c.2160
A D S N V F T E V A I G P S V L N A A R p.720
. | 18 . . . . . g.49940
GATGATATTAGCAAG | CTTAGGAATACACTTCGCTTTCTTTTGGGAAATGTGGCTGATTTC c.2220
D D I S K | L R N T L R F L L G N V A D F p.740
. . . . . . g.50000
AACCCAGAAACAGATTCCATCCCTGTAAACGATATGTATGTCATAGACCAGTACATGCTA c.2280
N P E T D S I P V N D M Y V I D Q Y M L p.760
. . | 19. . . . g.51103
CACTTACTGCAGGATTTGGCAAACAAG | ATTACCGAATTATACAAACAATATGATTTTGGA c.2340
H L L Q D L A N K | I T E L Y K Q Y D F G p.780
. . . . . . g.51163
AAAGTTGTTCGGCTGTTACGGACGTTTTATACCAGAGAGCTCTCTAACTTTTATTTCAGT c.2400
K V V R L L R T F Y T R E L S N F Y F S p.800
. | 20 . . . . . g.52736
ATAATCAAAGATAG | GCTCTATTGTGAAAAGGAAAATGACCCCAAACGACGCTCTTGTCAG c.2460
I I K D R | L Y C E K E N D P K R R S C Q p.820
. . . . . . g.52796
ACTGCATTAGTTGAAATTTTGGATGTAATAGTTCGTTCTTTTGCTCCCATTCTTCCTCAC c.2520
T A L V E I L D V I V R S F A P I L P H p.840
. . . . | 21 . . g.53851
CTGGCTGAAGAGGTGTTCCAGCACATACCTTATATTAAAG | AGCCCAAGAGTGTTTTCCGT c.2580
L A E E V F Q H I P Y I K E | P K S V F R p.860
. . . . . . g.53911
ACTGGGTGGATTAGTACTAGTTCTATCTGGAAAAAGCCCGGGTTGGAAGAAGCTGTGGAG c.2640
T G W I S T S S I W K K P G L E E A V E p.880
. . . . . . g.53971
AGTGCGTGTGCAATGCGAGACTCATTTCTTGGAAGCATCCCTGGCAAAAATGCAGCTGAG c.2700
S A C A M R D S F L G S I P G K N A A E p.900
. . . . . | 22 . g.56405
TACAAGGTTATCACTGTGATAGAACCTGGACTGCTTTTTGAGATAATAGAG | ATGCTGCAG c.2760
Y K V I T V I E P G L L F E I I E | M L Q p.920
. . . . . . g.56465
TCTGAAGAGACTTCCAGCACCTCTCAGTTGAATGAATTAATGATGGCTTCTGAGTCAACT c.2820
S E E T S S T S Q L N E L M M A S E S T p.940
. . . . . . g.56525
TTACTGGCTCAGGAACCACGAGAGATGACTGCAGATGTAATCGAGCTTAAAGGGAAATTC c.2880
L L A Q E P R E M T A D V I E L K G K F p.960
. | 23 . . . . . g.58424
CTCATCAACTTAGAAG | GTGGTGATATTCGTGAAGAGTCTTCCTATAAAGTAATTGTCATG c.2940
L I N L E G | G D I R E E S S Y K V I V M p.980
. . . . . . g.58484
CCGACTACGAAAGAAAAATGCCCCCGTTGTTGGAAGTATACAGCGGAGTCTTCAGATACA c.3000
P T T K E K C P R C W K Y T A E S S D T p.1000
. . . g.58523
CTGTGTCCTCGATGTGCAGAAGTTGTCAGTGGAAAATAG c.3039
L C P R C A E V V S G K X p.1012
. . . . . . g.58583
tattaacagctcactcgagcaagaaccctcctgacagtactggctagaagtttggatgga c.*60
. . . . . . g.58643
ttatttacaatataggaaagaaagccaagatttaggtaatgagtggatgagtaaatggtg c.*120
. . . . . . g.58703
gaggatgggagtcaaaatcagaattatagaagaagtatttcctgtaactatagaaagaat c.*180
. . . . . . g.58763
tatgtatatatacatgcagaaatatatatgtgtgtgtgtatctgtggatggatatatgta c.*240
. . . . . . g.58823
tatctcttcctatatatatccatagtggacttattcagaacatagatatgtattcagctt c.*300
. . . . . . g.58883
gtcttcaaatacggccaagcagaaaatgttttatattttataaatcatcttttgactctg c.*360
. . . . g.58929
tatttaaattctatgatactgaaaataaaggcattctggaaaaata c.*406
(downstream sequence)
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