(used for variant description)
(last modified October 20, 2013)
This file was created to facilitate the description of sequence variants on transcript NM_177949.2 in the ARMCX2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_013221.2, covering ARMCX2 transcript NM_177949.2.
(upstream sequence)
. . . . . g.5059
cttaaagccctgaccgtcgttctccgtcctcctctgggtaccaactctattgcgcagct c.-481
. . . . . . g.5119
cgctgccgtgcgtttaacccaggcgaggaggaggaggagaaaattcccccagattcgggc c.-421
. | 02 . . . . . g.5434
ag | gcccgcaccccacattccgtcctgttttgagaggaggagggaagagaaataaacgtgg c.-361
. . . | 03 . . . g.5764
cagcgcatagaaggccagcagggag | actgctttccagacacctccggcccacacagccgt c.-301
. . . . | 04. . g.6374
tcaccccccgtcttttcagtcctggaaaaggaattcgg | tctgtccttaggatgaagctct c.-241
. . . . . | 05 . g.6752
aactgaactgaagtaaggagaaacagccttgaatctttggagg | gtctgtcttccttttgg c.-181
. . . . . . | 06 g.7169
gctctgtgcaactgcagctacagtggaaaaaagcaaactgctcttgatcccag | gccctgc c.-121
. . . . . . g.7229
ctaagcctcagcagaacttgtaagcctaaactgaagagcctcacccggacgagcaggcat c.-61
. . . . . . g.7289
cccttaaccttaagcaatccagttccacgccctggatcagtgaataaccccagctgcacc c.-1
. . . . . . g.7349
ATGAGCCGCGTTCGGGATGCTGGCTGTGTAGCGGCGGGGATAGTGATAGGGGCTGGTGCC c.60
M S R V R D A G C V A A G I V I G A G A p.20
. . . . . . g.7409
TGGTACTGTGTCTACAAATACACCAGGGGGAGAGACCAGACCAAGAAGAGAATGGCCAAG c.120
W Y C V Y K Y T R G R D Q T K K R M A K p.40
. . . . . . g.7469
CCCAAAAACCGGGCTGTGGCTGGGACTGGAGCCAGGGCTAGAGCTGGGCTAAGAGCCGGA c.180
P K N R A V A G T G A R A R A G L R A G p.60
. . . . . . g.7529
TTCACAATCGACCTTGGGTCAGGATTCAGTCCCCCAACCCCAGTCCGTGCTGAAGCAGAG c.240
F T I D L G S G F S P P T P V R A E A E p.80
. . . . . . g.7589
GACAGGGCCCAGGATGAAGCCTCTGCTCTGGACACAGTTGGAGCTGAGGCAGTGGCCCCA c.300
D R A Q D E A S A L D T V G A E A V A P p.100
. . . . . . g.7649
GCTGCATCCAGCGCTGAGGCTCAGAGTGGGGCAGGCAGTCAGGCCCAAGAGGCAGATGGA c.360
A A S S A E A Q S G A G S Q A Q E A D G p.120
. . . . . . g.7709
GCCGGGGTTGGGCCTAAGGCCGAATCAGTAGTTGGGGCTGCAATGGCTTCTGCAATAGCA c.420
A G V G P K A E S V V G A A M A S A I A p.140
. . . . . . g.7769
CCACCTCCCGGGGTGACAGAGGCCCTTGGGGCTGCAGAAGCCCCTGCAATGGCAGGGGCT c.480
P P P G V T E A L G A A E A P A M A G A p.160
. . . . . . g.7829
CCCAAAGTGGCAGAAGCTCCCAGAGAAGCGGAGACTTCCAGGGCAGCGGTGCCTCCTGGG c.540
P K V A E A P R E A E T S R A A V P P G p.180
. . . . . . g.7889
ACAGTGGTGCCTACCGAAGCGGCAGCACCCACTGAGGTGACCGAGGGTCCTGGGGTAGCA c.600
T V V P T E A A A P T E V T E G P G V A p.200
. . . . . . g.7949
GCACCTACCAAGGTAGCTGAAGCTCCCGGGGTGGCATCGCCTACCGAGGCAGCTGAGGCT c.660
A P T K V A E A P G V A S P T E A A E A p.220
. . . . . . g.8009
CCTGTGCCCGCAACGCCTACTGGGGCTGCAGCACCTACTGGGGCTGCAGAGTCTCCTGGA c.720
P V P A T P T G A A A P T G A A E S P G p.240
. . . . . . g.8069
ACTTCTGGTTCCCCTAGAACAGCGGTGGTTCCTGGAACATCAGCTGCCAAGAAAGCAACC c.780
T S G S P R T A V V P G T S A A K K A T p.260
. . . . . . g.8129
CCTGGGGCTCACACTGGGGCTATACCGAAAGCCACATCAGCGACTGGAGCGGTACCCAAA c.840
P G A H T G A I P K A T S A T G A V P K p.280
. . . . . . g.8189
GGTGGAGGCAAGGGTGTAACCAGGTCCCGGAATGGGGGCAAGGGCAAGGGCAAGAAAAGC c.900
G G G K G V T R S R N G G K G K G K K S p.300
. . . . . . g.8249
AAAGTTGAAGTAGACGAACTGGGGATGGGCTTCCGTCCTGGAGATGGGGCTGCAGCAGCT c.960
K V E V D E L G M G F R P G D G A A A A p.320
. . . . . . g.8309
GCTGCAGCCTCTGCTAATGGCGGACAGGCTTTCCTGGCAGAGGTCCCTGATTCTGAGGAA c.1020
A A A S A N G G Q A F L A E V P D S E E p.340
. . . . . . g.8369
GGGGAGTCCGGGTGGACTGACACAGAGTCAGATTCAGACTCTGAGCCCGAGACCCAGCGC c.1080
G E S G W T D T E S D S D S E P E T Q R p.360
. . . . . . g.8429
AGAGGGAGGGGAAGAAGACCCGTTGCCATGCAGAAGCGCCCCTTTCCTTATGAAATTGAT c.1140
R G R G R R P V A M Q K R P F P Y E I D p.380
. . . . . . g.8489
GAGATTCTGGGTGTCCGCGATCTCAGGAAGGTCCTTGCCTTGCTTCAGAAATCTGATGAT c.1200
E I L G V R D L R K V L A L L Q K S D D p.400
. . . . . . g.8549
CCTTTCATCCAACAGGTAGCTTTGCTCACTCTGAGCAACAATGCCAATTATTCATGCAAT c.1260
P F I Q Q V A L L T L S N N A N Y S C N p.420
. . . . . . g.8609
CAAGAGACAATCCGCAAATTGGGAGGCCTCCCAATTATTGCAAACATGATCAACAAAACT c.1320
Q E T I R K L G G L P I I A N M I N K T p.440
. . . . . . g.8669
GATCCACACATTAAGGAAAAAGCCTTAATGGCCATGAATAACCTGAGTGAGAATTATGAA c.1380
D P H I K E K A L M A M N N L S E N Y E p.460
. . . . . . g.8729
AATCAGGGCCGGCTTCAGGTGTACATGAATAAAGTGATGGATGATATCATGGCCTCTAAC c.1440
N Q G R L Q V Y M N K V M D D I M A S N p.480
. . . . . . g.8789
CTGAACTCAGCAGTTCAAGTAGTTGGACTAAAATTTCTAACAAACATGACTATTACTAAT c.1500
L N S A V Q V V G L K F L T N M T I T N p.500
. . . . . . g.8849
GACTACCAGCACCTGCTTGTCAATTCCATTGCAAACTTTTTCCGTTTGCTATCTCAGGGA c.1560
D Y Q H L L V N S I A N F F R L L S Q G p.520
. . . . . . g.8909
GGTGGAAAAATCAAGGTTGAGATTTTGAAAATCCTTTCGAATTTTGCTGAAAATCCAGAT c.1620
G G K I K V E I L K I L S N F A E N P D p.540
. . . . . . g.8969
ATGTTGAAGAAACTTCTCAGTACCCAAGTGCCAGCATCATTTAGTTCCCTCTATAATTCT c.1680
M L K K L L S T Q V P A S F S S L Y N S p.560
. . . . . . g.9029
TACGTGGAATCAGAAATCCTTATTAATGCCCTTACTCTATTTGAGATTATCTATGACAAT c.1740
Y V E S E I L I N A L T L F E I I Y D N p.580
. . . . . . g.9089
CTCAGAGCAGAAGTGTTTAACTATAGAGAATTCAATAAAGGTTCCCTTTTTTACTTATGC c.1800
L R A E V F N Y R E F N K G S L F Y L C p.600
. . . . . . g.9149
ACTACATCTGGAGTGTGTGTTAAGAAAATTAGAGCCTTAGCAAATCACCATGACCTCTTA c.1860
T T S G V C V K K I R A L A N H H D L L p.620
. . . g.9188
GTGAAAGTGAAAGTTATAAAACTAGTGAACAAATTCTGA c.1899
V K V K V I K L V N K F X p.632
. . . . . . g.9248
ttggttatgtaccgtcaaaagacttgaagaaatttcatgattttgcagtgtggaagcgtt c.*60
. . . . . . g.9308
gaaaattgaaagttactgcttttccacttgctcatatagtaaagggatcctttcagctgc c.*120
. . . . . . g.9368
cagtgttgaataatgtatcatccagagtgatgttatctgtgacagtcaccagctttaagc c.*180
. . . . . . g.9428
tgaaccattttatgaataccaaataaatagacctcttgtactgaaaacatatttgtgact c.*240
. . . . . . g.9488
ttaatcgtgctgcttggatagaaatatttttactggttcttctgaattgacagtaaacct c.*300
. . . . . . g.9548
gtccattatgaatggcctactgttctattatttgttttgacttgaatttatccaccaaag c.*360
. . . . g.9597
acttcatttgtgtatcatcaataaagttgtatgtttcaactgacaaaaa c.*409
(downstream sequence)
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