(used for variant description)
(last modified May 19, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_001103.3 in the ACTN2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_009081.1, covering ACTN2 transcript NM_001103.3.
(upstream sequence)
. . . . g.5024
gacgggcggcgcggctattaagccgcgcggcagctgctcg c.-181
. . . . . . g.5084
cagccggagctggtgcttcgcccgagacccagcgcccaggcgtgtcgccccgagaggagc c.-121
. . . . . . g.5144
cgcgcgaaggtcaccccgcgcccgccgcccgccgcccgccgcctccgtgggtccgtttgc c.-61
. . . . . . g.5204
cagtcagcccgtgcgtccgagcccctcgcgccccgccgcagccccggccaaccgagcgcc c.-1
. . . . . . g.5264
ATGAACCAGATAGAGCCCGGCGTGCAGTACAACTACGTGTACGACGAGGATGAGTACATG c.60
M N Q I E P G V Q Y N Y V Y D E D E Y M p.20
. . . . . . g.5324
ATCCAGGAGGAGGAGTGGGACCGCGACCTGCTCCTGGACCCAGCCTGGGAGAAGCAGCAG c.120
I Q E E E W D R D L L L D P A W E K Q Q p.40
| 02 . . . . . . g.36442
AGGAAG | ACCTTCACTGCCTGGTGTAACTCCCACCTAAGGAAAGCCGGCACCCAGATTGAG c.180
R K | T F T A W C N S H L R K A G T Q I E p.60
. . . . . . g.36502
AACATCGAGGAAGACTTCAGGAATGGCCTTAAGCTCATGCTGCTTTTGGAAGTCATCTCA c.240
N I E E D F R N G L K L M L L L E V I S p.80
| 03 . . . . . . g.37483
G | GGGAAAGGCTGCCCAAACCTGACCGGGGAAAAATGCGGTTCCACAAAATTGCTAATGTC c.300
G | E R L P K P D R G K M R F H K I A N V p.100
. . . . . . g.37543
AACAAAGCTTTGGATTACATAGCCAGCAAAGGGGTGAAACTGGTGTCCATCGGCGCTGAA c.360
N K A L D Y I A S K G V K L V S I G A E p.120
| 04 . . . . . . g.38694
G | AAATTGTTGATGGCAATGTGAAAATGACCCTGGGTATGATCTGGACCATCATCCTTCGC c.420
E | I V D G N V K M T L G M I W T I I L R p.140
. . | 05 . . . g.44495
TTTGCTATTCAGGATATTTCGGTTGAAG | AAACATCTGCCAAAGAAGGTCTGCTGCTTTGG c.480
F A I Q D I S V E E | T S A K E G L L L W p.160
. . . . . | 06 . g.46212
TGTCAGAGGAAAACTGCTCCTTATAGAAATGTGAACATTCAGAACTTCCATACTAG | CTGG c.540
C Q R K T A P Y R N V N I Q N F H T S | W p.180
. . . . . . g.46272
AAAGATGGCCTTGGACTCTGTGCCCTCATCCACCGACACCGGCCTGACCTCATTGACTAC c.600
K D G L G L C A L I H R H R P D L I D Y p.200
. | 07 . . . . . g.49808
TCAAAGCTTAACAAG | GATGACCCCATAGGAAATATTAACCTGGCCATGGAAATCGCTGAG c.660
S K L N K | D D P I G N I N L A M E I A E p.220
. . . | 08. . . g.54188
AAGCACCTGGATATTCCTAAAATGTTGGATGCTGAAG | ACATCGTGAACACCCCTAAACCC c.720
K H L D I P K M L D A E D | I V N T P K P p.240
. . . . . . g.54248
GATGAAAGAGCCATCATGACGTACGTCTCTTGCTTCTACCACGCTTTTGCGGGCGCGGAG c.780
D E R A I M T Y V S C F Y H A F A G A E p.260
| 09 . . . . . . g.55709
CAG | GCCGAGACAGCGGCTAACAGGATATGTAAGGTTCTTGCTGTGAATCAAGAGAATGAG c.840
Q | A E T A A N R I C K V L A V N Q E N E p.280
. . . | 10 . . . g.57856
AGGCTGATGGAAGAATATGAGAGGCTAGCGAGTGAG | CTTTTGGAATGGATTCGTCGCACG c.900
R L M E E Y E R L A S E | L L E W I R R T p.300
. . . . . . g.57916
ATCCCCTGGCTGGAGAACCGGACTCCCGAGAAGACCATGCAAGCCATGCAGAAGAAGCTG c.960
I P W L E N R T P E K T M Q A M Q K K L p.320
. . . . . . g.57976
GAGGACTTCCGGGATTACCGCCGGAAGCACAAGCCACCCAAGGTGCAGGAGAAATGCCAG c.1020
E D F R D Y R R K H K P P K V Q E K C Q p.340
. . . . . . g.58036
CTGGAGATCAACTTCAACACGCTGCAGACCAAGCTGCGGATCAGCAACCGTCCTGCCTTC c.1080
L E I N F N T L Q T K L R I S N R P A F p.360
. . | 11. . . . g.61459
ATGCCCTCCGAGGGCAAGATGGTGTCG | GATATTGCTGGTGCCTGGCAGAGGCTGGAGCAG c.1140
M P S E G K M V S | D I A G A W Q R L E Q p.380
. . . . . . g.61519
GCTGAGAAGGGTTACGAGGAGTGGTTGCTCAATGAGATTCGGAGACTGGAGCGCTTGGAA c.1200
A E K G Y E E W L L N E I R R L E R L E p.400
. . . . . | 12 . g.63161
CACCTGGCTGAGAAGTTCAGGCAGAAGGCCTCAACGCACGAGACTTGGGCTTATG | GCAAA c.1260
H L A E K F R Q K A S T H E T W A Y G | K p.420
. . . . . . g.63221
GAGCAGATCTTGCTGCAGAAGGATTACGAGTCGGCGTCGCTGACAGAGGTGCGGGCTCTG c.1320
E Q I L L Q K D Y E S A S L T E V R A L p.440
. . . . . . g.63281
CTGCGGAAGCACGAGGCGTTCGAGAGCGACCTGGCAGCGCACCAGGACCGCGTGGAGCAG c.1380
L R K H E A F E S D L A A H Q D R V E Q p.460
. . | 13 . . . . g.66231
ATCGCAGCCATCGCGCAGGAGCTCAA | TGAACTGGACTATCACGACGCTGTGAATGTCAAT c.1440
I A A I A Q E L N | E L D Y H D A V N V N p.480
. . . . . . g.66291
GATCGGTGCCAGAAAATTTGTGACCAGTGGGACCGACTGGGAACGCTTACTCAGAAGAGG c.1500
D R C Q K I C D Q W D R L G T L T Q K R p.500
. | 14 . . . . . g.67699
AGAGAAGCCCTAGAG | AGAATGGAGAAATTGCTAGAAACCATTGATCAGCTTCACCTGGAG c.1560
R E A L E | R M E K L L E T I D Q L H L E p.520
. . . . . . g.67759
TTTGCCAAGAGGGCTGCTCCTTTCAACAATTGGATGGAGGGCGCTATGGAGGATCTGCAA c.1620
F A K R A A P F N N W M E G A M E D L Q p.540
. . . | 15 . . . g.70024
GATATGTTCATTGTCCACAGCATTGAGGAGATCCAG | AGTCTGATCACTGCGCATGAGCAG c.1680
D M F I V H S I E E I Q | S L I T A H E Q p.560
. . . . . . g.70084
TTCAAGGCCACGCTGCCCGAGGCGGACGGAGAGCGGCAGTCCATCATGGCCATCCAGAAC c.1740
F K A T L P E A D G E R Q S I M A I Q N p.580
. . . . . . g.70144
GAGGTGGAGAAGGTGATTCAGAGCTACAACATCAGAATCAGCTCAAGCAACCCGTACAGC c.1800
E V E K V I Q S Y N I R I S S S N P Y S p.600
. . . | 16 . . g.72498
ACTGTCACCATGGATGAGCTCCGGACCAAGTGGGACAAG | GTGAAGCAACTCGTGCCCATC c.1860
T V T M D E L R T K W D K | V K Q L V P I p.620
. . . . . . g.72558
CGCGATCAATCCCTGCAGGAGGAGCTGGCTCGCCAGCATGCTAACGAGCGTCTGAGGCGC c.1920
R D Q S L Q E E L A R Q H A N E R L R R p.640
. . . . . | 17 . g.73555
CAGTTTGCTGCCCAAGCCAATGCCATTGGGCCCTGGATCCAGAACAAGATGGAG | GAGATT c.1980
Q F A A Q A N A I G P W I Q N K M E | E I p.660
. . . . . . g.73615
GCCCGGAGCTCCATCCAGATCACAGGAGCCCTGGAAGACCAGATGAACCAGCTGAAGCAG c.2040
A R S S I Q I T G A L E D Q M N Q L K Q p.680
. . . . . . g.73675
TATGAGCACAACATCATCAACTATAAGAACAACATCGACAAGCTGGAGGGAGACCATCAG c.2100
Y E H N I I N Y K N N I D K L E G D H Q p.700
. . . . . | 18 . g.76022
CTCATCCAGGAGGCCCTTGTCTTTGACAACAAGCACACGAACTACACGATGGAG | CACATT c.2160
L I Q E A L V F D N K H T N Y T M E | H I p.720
. . . . . . g.76082
CGTGTTGGATGGGAGCTGCTGCTGACAACCATCGCCAGAACCATCAATGAGGTGGAGACT c.2220
R V G W E L L L T T I A R T I N E V E T p.740
. . . . . . g.76142
CAGATCCTGACGAGAGATGCGAAGGGCATCACCCAGGAGCAGATGAATGAGTTCAGAGCC c.2280
Q I L T R D A K G I T Q E Q M N E F R A p.760
. . | 19 . . . . g.78293
TCCTTCAACCACTTTGACAGG | AGGAAGAATGGCCTGATGGATCATGAGGATTTCAGAGCC c.2340
S F N H F D R | R K N G L M D H E D F R A p.780
. . | 20. . . . g.79578
TGCCTGATTTCCATGGGTTATGACCTG | GGTGAAGCCGAATTTGCCCGCATTATGACCCTG c.2400
C L I S M G Y D L | G E A E F A R I M T L p.800
. . . . . . g.79638
GTAGATCCCAACGGGCAAGGCACCGTCACCTTCCAATCCTTCATCGACTTCATGACTAGA c.2460
V D P N G Q G T V T F Q S F I D F M T R p.820
. . . . . . g.79698
GAGACGGCTGACACCGACACTGCCGAGCAGGTCATCGCCTCCTTCCGGATCCTGGCTTCT c.2520
E T A D T D T A E Q V I A S F R I L A S p.840
| 21 . . . . . . g.81045
GATAAG | CCATACATCCTGGCGGAGGAGCTGCGTCGGGAGCTGCCCCCGGATCAGGCCCAG c.2580
D K | P Y I L A E E L R R E L P P D Q A Q p.860
. . . . . . g.81105
TACTGCATCAAGAGGATGCCCGCCTACTCGGGCCCAGGCAGTGTGCCTGGTGCACTGGAT c.2640
Y C I K R M P A Y S G P G S V P G A L D p.880
. . . . g.81150
TACGCTGCGTTCTCTTCCGCACTCTACGGGGAGAGCGATCTGTGA c.2685
Y A A F S S A L Y G E S D L X p.894
. . . . . . g.81210
tgctgagcttctgtaatcactcatcccatcagaatgcaataaaagcggaagtcacagttt c.*60
. . . . . . g.81270
gtttcctggaaactttgacaagctttattaagttgagagagagagaggggaaaaaaaaaa c.*120
. . . . . . g.81330
gcctttcgtagttcagtaattgccagcaatataacacggctaaaatgaagtttttacagt c.*180
. . . . . . g.81390
atatgacatagtgcgcttcataaataggtttatttctgagtttttagcaaaatgtaatga c.*240
. . . . . . g.81450
aatatcaggttgatttctttgattaaacagaacaaattacttgagtaataggaaattagg c.*300
. . . . . . g.81510
aggatctagggacagaaggaaagtgaaaaatgtgaaaatacaaaatacccaagatttaag c.*360
. . . . . . g.81570
accggggggaaaaaaccacaaattggtaaataaaggtttgctatttgtaaaaaatttcat c.*420
. . . . . . g.81630
ttatctctaatatgcttatgtgattgcccctaggggagtatatttgggattctaatgttt c.*480
. . . . . . g.81690
tattttcatgcttatccaaagattactattgtatcttcaaatgaatttaatattgtgaga c.*540
. . . . . . g.81750
tggaactgccggggattaaaaagactacccaaaagatttttggcacttacaatttttaaa c.*600
. . . . . . g.81810
atagtttatgtcatctcttcattatttagggctggatggtcaactcagtcagtgattttt c.*660
. . . . . . g.81870
tgatgcttctcttatcctccagaatagagacctaaggacacgtggaagtcagtttaattg c.*720
. . . . . . g.81930
ccagagagaaggatgcaatcactaggtaaaatgaggtttttaggattatttattgattcc c.*780
. . . . . . g.81990
aggttcccatgctttttgttagagcttattagtacaggttctcaagagatgaccacataa c.*840
. . . . . . g.82050
aagtgctctgtttataaataagcaggtttctgtagtactgactggttcatcacaaggcaa c.*900
. . . . . . g.82110
gtcagaaaccagtatccttctagctctccagtcaggacttccttatgcctctagttttat c.*960
. . . . . . g.82170
gaccggttaaggagaagccagagttagagtaggagaggactaattctcagcagcagtgga c.*1020
. . . . . . g.82230
ggtgagttctttcttttgcggaagctttacatatgttttgtgtagtaggaataactagat c.*1080
. . . . . . g.82290
attttagctagtgtgcggtgtgtgttcacccctgggattggacagtgtatcctaacaagt c.*1140
. . . . . . g.82350
cccatgtctggttctgtgtctaaaggcctgctccatgacacaggatgctacatgcactcc c.*1200
. . . . . . g.82410
tgctagcacatcttgatctgttgaatgttcattctttctttttgctcatactgctgtagg c.*1260
. . . . . . g.82470
ctataattcccccctgtttttccatcttgttgacagcttgtagagaataaagcaggaatt c.*1320
. . . . . . g.82530
ctttttatatctgagtccttaatgatcaggaaatggattacaaacaaacaaaaacagttg c.*1380
. . . . . . g.82590
caaacagcaattaaagcattactagagaagcagtaacatgtctgttacctacagtctgtt c.*1440
. . . . . . g.82650
tgctcagatttttatagatttccaccaacagctggaaatgtaatatttccattccaagct c.*1500
. . . . . . g.82710
gtctgacagcttgactcttcttcctacactgggccatttagaaccttcaacctttatgaa c.*1560
. . . . . . g.82770
tttcacttaatttgcttcattattaagtaattggtagtttccagattcctgaaatatttg c.*1620
. . . . . . g.82830
aatccttgagtttaatgccaaacacttttggggtggtttagatgaactctgactctattt c.*1680
. . . . . . g.82890
tatttcaagtaggtgctatatcccggccataaacccctatagaaaagccagaaagttgtg c.*1740
. . . . . . g.82950
cttcctttgaggctattagggggctctgtggtgttttaggatgggtgtgggtaactcatc c.*1800
. . . . . . g.83010
tacctaaacttttaatttctttacaacattcagcaagagagggggtcagtagtctctatc c.*1860
. . . . . . g.83070
tgctaataaatgaagaaaggaagtaaactctgaaaaataataaacatgtttatactctca c.*1920
. . . . . . g.83130
ttttaggtattatttttatttctgaagctggatgctcaaaaattaaaacgtttataagtt c.*1980
. . . g.83162
tctaaattaaacttaatttataaaagaaaaaa c.*2012
(downstream sequence)
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