(used for variant description)
(last modified September 23, 2024)
This file was created to facilitate the description of sequence variants on transcript NM_001040436.2 in the YARS2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000012.11, covering YARS2 transcript NM_001040436.2.
(upstream sequence)
. g.5019
accttccctaggagctgta c.-61
. . . . . . g.5079
agtaggtgggtgtggtgggagcctctgcaatcccagcattcccttcgtgccgctaccaag c.-1
. . . . . . g.5139
ATGGCGGCGCCCATCTTGCGGTCCTTTTCCTGGGGCCGGTGGTCTGGTACCCTAAATCTC c.60
M A A P I L R S F S W G R W S G T L N L p.20
. . . . . . g.5199
TCAGTATTGTTGCCCTTGGGGCTGCGTAAGGCCCACTCGGGCGCTCAGGGGTTACTGGCA c.120
S V L L P L G L R K A H S G A Q G L L A p.40
. . . . . . g.5259
GCGCAGAAGGCTCGAGGTCTGTTCAAGGACTTCTTCCCGGAGACGGGGACGAAAATAGAG c.180
A Q K A R G L F K D F F P E T G T K I E p.60
. . . . . . g.5319
CTCCCAGAGCTCTTCGACCGTGGCACGGCGAGTTTTCCCCAAACCATTTACTGTGGCTTC c.240
L P E L F D R G T A S F P Q T I Y C G F p.80
. . . . . . g.5379
GACCCCACGGCAGACTCGCTTCATGTGGGTCATCTACTTGCGCTGCTGGGCCTGTTTCAT c.300
D P T A D S L H V G H L L A L L G L F H p.100
. . . . . . g.5439
TTGCAGCGAGCGGGCCACAACGTGATCGCGCTGGTGGGAGGCGCCACGGCGCGCCTGGGA c.360
L Q R A G H N V I A L V G G A T A R L G p.120
. . . . . . g.5499
GACCCGAGCGGCCGTACCAAGGAACGCGAGGCGCTGGAGACAGAGCGCGTGCGAGCCAAC c.420
D P S G R T K E R E A L E T E R V R A N p.140
. . . . . . g.5559
GCGCGAGCTCTGCGCCTAGGGCTTGAGGCCCTGGCGGCTAATCACCAGCAGCTTTTCACT c.480
A R A L R L G L E A L A A N H Q Q L F T p.160
. . . . . . g.5619
GATGGGCGCTCCTGGGGCAGCTTCACTGTGCTGGACAACTCGGCCTGGTACCAGAAGCAG c.540
D G R S W G S F T V L D N S A W Y Q K Q p.180
. . . . . . g.5679
CACCTGGTGGACTTCCTGGCGGCAGTGGGGGGTCACTTCCGCATGGGGACGCTGCTGAGC c.600
H L V D F L A A V G G H F R M G T L L S p.200
. . . . . . g.5739
CGGCAGAGCGTGCAGCTGCGGCTCAAGAGCCCCGAGGGCATGAGCTTGGCCGAGTTCTTT c.660
R Q S V Q L R L K S P E G M S L A E F F p.220
. . . . . . g.5799
TACCAGGTGCTCCAGGCCTATGACTTCTATTACCTCTTCCAGCGTTATGGATGCAGGGTC c.720
Y Q V L Q A Y D F Y Y L F Q R Y G C R V p.240
. . . . . | 02 g.6869
CAGCTGGGCGGATCTGATCAACTAGGCAACATCATGTCCGGATATGAGTTCATCAACAA | G c.780
Q L G G S D Q L G N I M S G Y E F I N K | p.260
. . . . . . g.6929
TTGACTGGAGAAGATGTATTTGGAATCACCGTTCCTCTAATTACAAGTACAACTGGAGCA c.840
L T G E D V F G I T V P L I T S T T G A p.280
. . . . . . g.6989
AAGCTGGGAAAGTCTGCTGGCAACGCTGTTTGGCTAAACAGAGATAAGACATCTCCATTT c.900
K L G K S A G N A V W L N R D K T S P F p.300
. . . . | 03. . g.10092
GAATTGTATCAATTCTTTGTCAGGCAACCGGACGATTCAGTGGAAAG | GTACCTGAAGCTG c.960
E L Y Q F F V R Q P D D S V E R | Y L K L p.320
. . . . . . g.10152
TTCACTTTCCTGCCCCTTCCAGAGATTGATCATATCATGCAGCTGCATGTCAAAGAGCCA c.1020
F T F L P L P E I D H I M Q L H V K E P p.340
. . . . . . g.10212
GAAAGGCGGGGTCCTCAGAAACGACTGGCAGCAGAAGTAACAAAGCTTGTTCATGGACGA c.1080
E R R G P Q K R L A A E V T K L V H G R p.360
. . | 04 . . . . g.10883
GAAGGATTGGATTCTGCTAAAAG | GTGTACACAAGCCCTTTATCACAGTAGCATAGATGCA c.1140
E G L D S A K R | C T Q A L Y H S S I D A p.380
. . . . . . g.10943
CTGGAGGTCATGTCTGATCAGGAGTTAAAAGAGTTGTTTAAAGAAGCTCCATTTTCTGAA c.1200
L E V M S D Q E L K E L F K E A P F S E p.400
. . . . . . g.11003
TTTTTTCTCGATCCTGGAACAAGTGTCCTAGATACTTGCCGCAAAGCAAATGCCATTCCA c.1260
F F L D P G T S V L D T C R K A N A I P p.420
. | 05 . . . . . g.13636
GATGGTCCCCGAGG | GTATCGAATGATAACAGAAGGCGGAGTCAGCATAAATCACCAACAA c.1320
D G P R G | Y R M I T E G G V S I N H Q Q p.440
. . . . . . g.13696
GTAACAAATCCTGAGAGTGTTTTAATTGTTGGACAACATATTCTCAAGAATGGACTTTCC c.1380
V T N P E S V L I V G Q H I L K N G L S p.460
. . . . . g.13750
TTACTTAAAATAGGAAAAAGAAATTTCTACATTATAAAATGGCTTCAGTTGTGA c.1434
L L K I G K R N F Y I I K W L Q L X p.477
. . . . . . g.13810
tgaaaagtccttctggttgtccaaataaacttacccatcattcattctcaagacctctga c.*60
. . . . . . g.13870
agggttggctccagaacttagacctttgcttatgcaaatcagaaaaacagaatggactag c.*120
. . . . . . g.13930
gactcagtgtgagtaacttcattatttttatgggccggttaataaatatttgtttaataa c.*180
. . . . . . g.13990
tgggatgttttattttctgatgtacaaagcttgattaccatagaaaaccatgattttcag c.*240
. . . . . . g.14050
ggttaatctctttttaaaattatacttcagaagagaaagaaatgctgctttcctatctta c.*300
. . . . . . g.14110
cccttcctgctctcctttttgtagtgatgaggaacaatgaaaaagaggtagtgtaaggaa c.*360
. . . . . . g.14170
ttgtgaggctgggcatggtggctcacacctgtaatcccagcacttcgggaggccaaggtg c.*420
. . . . . . g.14230
ggcaaatcgcttgaggccaggagtttgagaccagcctggccaacagggcgaaaccccgtc c.*480
. . . . . . g.14290
tctactgaaaatataaaaattagccagatgtggttgcaggcacctgtaaccccagctact c.*540
. . . . . . g.14350
caagaggctgagctgcgagaatcacttgaacccaggagatggaggttgcagtgagctgag c.*600
. . . . . . g.14410
atcacgccactgcactccagcctgggagacagcatgagtagtgagtgaaactctgtctca c.*660
(downstream sequence)
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