(used for variant description)
(last modified November 13, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_012208.3 in the HARS2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_021415.1, covering HARS2 transcript NM_012208.3.
(upstream sequence)
. . . . g.5036
aaaaattatttccggctcctcccggaagtgccgaagctggcta c.-181
. . . . . . g.5096
ctaagggaacttgggaggatcccacctcagccttcgtgactagtgaggtgcgcaaacgcc c.-121
. . . . . . g.5156
cgagttttccctggtgcgcgggttccgcctttgcagtgccctccacccttcctggtgtct c.-61
. . . . . . g.5216
gacccgcctccttcccaggccttttgttcctgtcccggaaagccggcgtcctgccgcgcg c.-1
. . . . . . g.5276
ATGCCCCTGCTCGGACTTCTTCCCAGGAGGGCCTGGGCTTCGCTGCTCAGCCAGCTCCTG c.60
M P L L G L L P R R A W A S L L S Q L L p.20
. . . . | 02 . g.7170
CGACCGCCCTGCGCTTCGTGCACCGGGGCGGTCCGTTGCCAAAGCCAG | GTTGCAGAGGCA c.120
R P P C A S C T G A V R C Q S Q | V A E A p.40
. . . . . . g.7230
GTGTTAACATCCCAACTGAAAGCACATCAAGAGAAACCAAATTTTATTATCAAGACCCCA c.180
V L T S Q L K A H Q E K P N F I I K T P p.60
| 03 . . . . . . g.7559
AAG | GGTACCAGGGATCTTAGTCCTCAGCATATGGTTGTGAGGGAGAAAATTCTTGATTTG c.240
K | G T R D L S P Q H M V V R E K I L D L p.80
. . . . . . g.7619
GTTATCAGCTGCTTTAAACGTCATGGAGCAAAGGGGATGGACACCCCAGCATTTGAGCTG c.300
V I S C F K R H G A K G M D T P A F E L p.100
| 04 . . . . . . g.7809
AAG | GAAACCCTGACTGAGAAGTATGGAGAGGACTCTGGGCTCATGTATGATCTGAAGGAT c.360
K | E T L T E K Y G E D S G L M Y D L K D p.120
. . . | 05 . . g.9096
CAAGGTGGAGAGCTGTTGTCCCTCCGCTATGACCTTACT | GTTCCCTTTGCTCGTTATCTG c.420
Q G G E L L S L R Y D L T | V P F A R Y L p.140
. . . . . . g.9156
GCCATGAATAAGGTGAAGAAGATGAAACGTTATCATGTTGGAAAGGTGTGGCGGCGAGAG c.480
A M N K V K K M K R Y H V G K V W R R E p.160
. . . . | 06 . . g.9320
AGCCCAACCATAGTCCAAGGCCGTTATAGGGAGTTCTGCCAGTGT | GATTTTGACATTGCT c.540
S P T I V Q G R Y R E F C Q C | D F D I A p.180
. . . . . . g.9380
GGTCAGTTTGACCCTATGATCCCCGATGCAGAGTGTTTGAAGATCATGTGTGAAATCCTA c.600
G Q F D P M I P D A E C L K I M C E I L p.200
. . . | 07 . . . g.9697
AGTGGATTGCAGTTGGGAGACTTTCTCATTAAG | GTAAATGACCGGCGGATTGTGGATGGG c.660
S G L Q L G D F L I K | V N D R R I V D G p.220
. . . . . . g.9757
ATGTTTGCTGTCTGTGGTGTTCCTGAAAGCAAGTTCCGTGCCATCTGCTCCTCCATAGAT c.720
M F A V C G V P E S K F R A I C S S I D p.240
. | 08 . . . . . g.10136
AAACTAGACAAG | ATGGCTTGGAAAGATGTGAGACATGAGATGGTGGTGAAGAAAGGCCTG c.780
K L D K | M A W K D V R H E M V V K K G L p.260
. . . . | 09 . . g.10524
GCTCCTGAGGTGGCTGATCGAATTGGGGACTATGTCCAGTGTCATG | GTGGGGTATCCCTA c.840
A P E V A D R I G D Y V Q C H G | G V S L p.280
. . . . . . g.10584
GTAGAGCAAATGTTTCAGGATCCCAGACTATCCCAGAACAAGCAGGCCCTGGAGGGCCTG c.900
V E Q M F Q D P R L S Q N K Q A L E G L p.300
. . . . . | 10 . g.10737
GGAGACCTAAAGCTGCTATTTGAATACCTGACTTTATTTGGAATTGCTGATAAG | ATCTCC c.960
G D L K L L F E Y L T L F G I A D K | I S p.320
. . . . . . g.10797
TTTGACCTCAGCCTGGCTCGGGGCCTAGACTACTATACAGGAGTGATCTATGAAGCAGTG c.1020
F D L S L A R G L D Y Y T G V I Y E A V p.340
. . . . . . g.10857
CTGCTGCAGACCCCAACTCAGGCTGGGGAGGAGCCCCTGAATGTGGGCAGTGTGGCTGCT c.1080
L L Q T P T Q A G E E P L N V G S V A A p.360
. . . . . . g.10917
GGTGGGCGCTATGATGGGCTGGTGGGCATGTTTGACCCCAAGGGCCACAAGGTGCCATGT c.1140
G G R Y D G L V G M F D P K G H K V P C p.380
. . . . . | 11. g.11139
GTGGGACTCAGCATTGGGGTTGAGCGAATCTTCTACATTGTGGAGCAGAGGATGAAG | ACC c.1200
V G L S I G V E R I F Y I V E Q R M K | T p.400
. . . . . . g.11199
AAAGGTGAGAAGGTGCGGACTACAGAGACTCAAGTGTTTGTGGCCACACCACAGAAGAAC c.1260
K G E K V R T T E T Q V F V A T P Q K N p.420
. . . . . | 12 . g.11505
TTTCTCCAAGAACGGTTGAAGCTTATTGCAGAGCTTTGGGATTCTGGAATCAAG | GCAGAG c.1320
F L Q E R L K L I A E L W D S G I K | A E p.440
. . . . . . g.11565
ATGCTATACAAGAACAACCCCAAACTATTAACCCAGCTGCACTATTGTGAGAGCACAGGC c.1380
M L Y K N N P K L L T Q L H Y C E S T G p.460
. . . . . . g.11625
ATTCCACTGGTGGTCATTATTGGTGAGCAAGAACTGAAAGAAGGGGTCATCAAGATCCGT c.1440
I P L V V I I G E Q E L K E G V I K I R p.480
. . | 13 . . . . g.12099
TCAGTGGCCAGCAGAGAGGAG | GTGGCCATTAAACGGGAAAATTTTGTGGCTGAAATTCAG c.1500
S V A S R E E | V A I K R E N F V A E I Q p.500
. . g.12120
AAGCGACTGTCTGAGTCTTGA c.1521
K R L S E S X p.506
. . . . . . g.12180
tccttgcctgattcccatctgctgctctttgtagaaaaggtttcctctagaactgaattc c.*60
. . . . . . g.12240
ctctggaattgagtgatggacttcacaacaactagccaggaagggtgacaagtaccttct c.*120
. . . . . . g.12300
gcctcctccattcttcctgggtgcagaactgtagaagaccctgaggactcctgggctagt c.*180
. . . . . . g.12360
gtgagcagctattctgcatgggtgcagatggctggatgtgaaagagacatgctctagctg c.*240
. . . . . . g.12420
cagaggcaaatttgaagtgccacggaacgttgtcaagaggtagtgagattgttgctgtga c.*300
. . . . . . g.12480
gcaaggctctgggagagtcacctcaggctcaggattctgaaccattgagatcagaaacca c.*360
. . . . . . g.12540
gatacttagccttctactgtagctacggaaccagattctggtgaatttgtccacaatcag c.*420
. . . . . . g.12600
ccattggcctgtctggggagtttttggaagacagcaaagaggggcaatggctgctttcag c.*480
. . . . . . g.12660
ctttgaggacagatgctatcctaagggcatggcagtacccatgttgatttgacatctctc c.*540
. . . . . . g.12720
tagcccatccattgcttacagtagaagagtggggctgtatgcttgataatcttgaacatt c.*600
. . . . . . g.12780
gaacttaatagatgacttgacaaggtagagatctgatattttgagattttggagaccatt c.*660
. . . . . . g.12840
tcctgtgccagaatcactgctctattccataccgtgccatggaggctgttttagaagtgg c.*720
. . . . g.12886
ttggataacatgttaaataaaatattaagtgtagtagtttgggtaa c.*766
(downstream sequence)
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