(used for variant description)
(last modified May 12, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_002973.3 in the ATXN2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_011572.1, covering ATXN2 transcript NM_002973.3.
(upstream sequence)
. . . . g.5042
acccccgagaaagcaacccagcgcgccgcccgctcctcacgt c.-121
. . . . . . g.5102
gtccctcccggccccggggccacctcacgttctgcttccgtctgacccctccgacttccg c.-61
. . . . . . g.5162
gtaaagagtccctatccgcacctccgctcccacccggcgcctcggcgcgcccgccctccg c.-1
. . . . . . g.5222
ATGCGCTCAGCGGCCGCAGCTCCTCGGAGTCCCGCGGTGGCCACCGAGTCTCGCCGCTTC c.60
M R S A A A A P R S P A V A T E S R R F p.20
. . . . . . g.5282
GCCGCAGCCAGGTGGCCCGGGTGGCGCTCGCTCCAGCGGCCGGCGCGGCGGAGCGGGCGG c.120
A A A R W P G W R S L Q R P A R R S G R p.40
. . . . . . g.5342
GGCGGCGGTGGCGCGGCCCCGGGACCGTATCCCTCCGCCGCCCCTCCCCCGCCCGGCCCC c.180
G G G G A A P G P Y P S A A P P P P G P p.60
. . . . . . g.5402
GGCCCCCCTCCCTCCCGGCAGAGCTCGCCTCCCTCCGCCTCAGACTGTTTTGGTAGCAAC c.240
G P P P S R Q S S P P S A S D C F G S N p.80
. . . . . . g.5462
GGCAACGGCGGCGGCGCGTTTCGGCCCGGCTCCCGGCGGCTCCTTGGTCTCGGCGGGCCT c.300
G N G G G A F R P G S R R L L G L G G P p.100
. . . . . . g.5522
CCCCGCCCCTTCGTCGTCCTCCTTCTCCCCCTCGCCAGCCCGGGCGCCCCTCCGGCCGCG c.360
P R P F V V L L L P L A S P G A P P A A p.120
. . . . . . g.5582
CCAACCCGCGCCTCCCCGCTCGGCGCCCGCGCGTCCCCGCCGCGTTCCGGCGTCTCCTTG c.420
P T R A S P L G A R A S P P R S G V S L p.140
. . . . . . g.5642
GCGCGCCCGGCTCCCGGCTGTCCCCGCCCGGCGTGCGAGCCGGTGTATGGGCCCCTCACC c.480
A R P A P G C P R P A C E P V Y G P L T p.160
. . . . . . g.5702
ATGTCGCTGAAGCCCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAACAG c.540
M S L K P Q Q Q Q Q Q Q Q Q Q Q Q Q Q Q p.180
. . . . . . g.5762
CAGCAGCAGCAGCAGCAGCAGCAGCCGCCGCCCGCGGCTGCCAATGTCCGCAAGCCCGGC c.600
Q Q Q Q Q Q Q Q P P P A A A N V R K P G p.200
. . . . . . g.5822
GGCAGCGGCCTTCTAGCGTCGCCCGCCGCCGCGCCTTCGCCGTCCTCGTCCTCGGTCTCC c.660
G S G L L A S P A A A P S P S S S S V S p.220
. . . . . . g.5882
TCGTCCTCGGCCACGGCTCCCTCCTCGGTGGTCGCGGCGACCTCCGGCGGCGGGAGGCCC c.720
S S S A T A P S S V V A A T S G G G R P p.240
. | 02 . . . | 03 . g.50471
GGCCTGGGCAG | AGGTCGAAACAGTAACAAAGGACTGCCTCAGTCTACG | ATTTCTTTTGAT c.780
G L G R | G R N S N K G L P Q S T | I S F D p.260
. . . . | 04 . g.51711
GGAATCTATGCAAATATGAGGATGGTTCATATACTTACATCAGTTGTT | GGCTCCAAATGT c.840
G I Y A N M R M V H I L T S V V | G S K C p.280
. . . . . . g.51771
GAAGTACAAGTGAAAAATGGAGGTATATATGAAGGAGTTTTTAAAACTTACAGTCCGAAG c.900
E V Q V K N G G I Y E G V F K T Y S P K p.300
| 05 . . . . . . g.52306
| TGTGATTTGGTACTTGATGCCGCACATGAGAAAAGTACAGAATCCAGTTCGGGGCCGAAA c.960
| C D L V L D A A H E K S T E S S S G P K p.320
. . . . . . g.52366
CGTGAAGAAATAATGGAGAGTATTTTGTTCAAATGTTCAGACTTTGTTGTGGTACAGTTT c.1020
R E E I M E S I L F K C S D F V V V Q F p.340
. . . | 06 . . . g.79389
AAAGATATGGACTCCAGTTATGCAAAAAGAG | ATGCTTTTACTGACTCTGCTATCAGTGCT c.1080
K D M D S S Y A K R D | A F T D S A I S A p.360
. . . . . . g.79449
AAAGTGAATGGCGAACACAAAGAGAAGGACCTGGAGCCCTGGGATGCAGGTGAACTCACA c.1140
K V N G E H K E K D L E P W D A G E L T p.380
. . . | 07 . . . g.83727
GCCAATGAGGAACTTGAGGCTTTGGAAAATGACGTA | TCTAATGGATGGGATCCCAATGAT c.1200
A N E E L E A L E N D V | S N G W D P N D p.400
. . . . . . g.83787
ATGTTTCGATATAATGAAGAAAATTATGGTGTAGTGTCTACGTATGATAGCAGTTTATCT c.1260
M F R Y N E E N Y G V V S T Y D S S L S p.420
| 08 . . . . . g.84652
TCGTATAC | AGTGCCCTTAGAAAGAGATAACTCAGAAGAATTTTTAAAACGGGAAGCAAGG c.1320
S Y T | V P L E R D N S E E F L K R E A R p.440
. . . . . . g.84712
GCAAACCAGTTAGCAGAAGAAATTGAGTCAAGTGCCCAGTACAAAGCTCGAGTGGCCCTG c.1380
A N Q L A E E I E S S A Q Y K A R V A L p.460
. . . . . . g.84772
GAAAATGATGATAGGAGTGAGGAAGAAAAATACACAGCAGTTCAGAGAAATTCCAGTGAA c.1440
E N D D R S E E E K Y T A V Q R N S S E p.480
. . | 09 . . . . g.86283
CGTGAGGGGCACAGCATAAACACTAG | GGAAAATAAATATATTCCTCCTGGACAAAGAAAT c.1500
R E G H S I N T R | E N K Y I P P G Q R N p.500
. . . . . . g.86343
AGAGAAGTCATATCCTGGGGAAGTGGGAGACAGAATTCACCGCGTATGGGCCAGCCTGGA c.1560
R E V I S W G S G R Q N S P R M G Q P G p.520
. . . . . . g.86403
TCGGGCTCCATGCCATCAAGATCCACTTCTCACACTTCAGATTTCAACCCGAATTCTGGT c.1620
S G S M P S R S T S H T S D F N P N S G p.540
. . | 10 . . . . g.88348
TCAGACCAAAGAGTAGTTAATGGAG | GTGTTCCCTGGCCATCGCCTTGCCCATCTCCTTCC c.1680
S D Q R V V N G G | V P W P S P C P S P S p.560
. . . . . . g.88408
TCTCGCCCACCTTCTCGCTACCAGTCAGGTCCCAACTCTCTTCCACCTCGGGCAGCCACC c.1740
S R P P S R Y Q S G P N S L P P R A A T p.580
. . . . . . g.88468
CCTACACGGCCGCCCTCCAGGCCCCCCTCGCGGCCATCCAGACCCCCGTCTCACCCCTCT c.1800
P T R P P S R P P S R P S R P P S H P S p.600
. . . . . | 11 . g.91142
GCTCATGGTTCTCCAGCTCCTGTCTCTACTATGCCTAAACGCATGTCTTCAGAAG | GGCCT c.1860
A H G S P A P V S T M P K R M S S E G | P p.620
. . . . . . g.91202
CCAAGGATGTCCCCAAAGGCCCAGCGACATCCTCGAAATCACAGAGTTTCTGCTGGGAGG c.1920
P R M S P K A Q R H P R N H R V S A G R p.640
. . . . . . g.91262
GGTTCCATATCCAGTGGCCTAGAATTTGTATCCCACAACCCACCCAGTGAAGCAGCTACT c.1980
G S I S S G L E F V S H N P P S E A A T p.660
. . . . . | 12 g.94096
CCTCCAGTAGCAAGGACCAGTCCCTCGGGGGGAACGTGGTCATCAGTGGTCAGTGGGG | TT c.2040
P P V A R T S P S G G T W S S V V S G V | p.680
. . . . . . g.94156
CCAAGATTATCCCCTAAAACTCATAGACCCAGGTCTCCCAGACAGAACAGTATTGGAAAT c.2100
P R L S P K T H R P R S P R Q N S I G N p.700
. . . . . . g.94216
ACCCCCAGTGGGCCAGTTCTTGCTTCTCCCCAAGCTGGTATTATTCCAACTGAAGCTGTT c.2160
T P S G P V L A S P Q A G I I P T E A V p.720
. . . . . . g.94276
GCCATGCCTATTCCAGCTGCATCTCCTACGCCTGCTAGTCCTGCATCGAACAGAGCTGTT c.2220
A M P I P A A S P T P A S P A S N R A V p.740
. | 13 . . . . . g.94722
ACCCCTTCTAGTGAGG | CTAAAGATTCCAGGCTTCAAGATCAGAGGCAGAACTCTCCTGCA c.2280
T P S S E A | K D S R L Q D Q R Q N S P A p.760
. . . . . . g.94782
GGGAATAAAGAAAATATTAAACCCAATGAAACATCACCTAGCTTCTCAAAAGCTGAAAAC c.2340
G N K E N I K P N E T S P S F S K A E N p.780
| 14 . . . . . . g.95113
AAAG | GTATATCACCAGTTGTTTCTGAACATAGAAAACAGATTGATGATTTAAAGAAATTT c.2400
K G | I S P V V S E H R K Q I D D L K K F p.800
. | 15 . . . . . g.115941
AAGAATGATTTTAGG | TTACAGCCAAGTTCTACTTCTGAATCTATGGATCAACTACTAAAC c.2460
K N D F R | L Q P S S T S E S M D Q L L N p.820
. . . . . . g.116001
AAAAATAGAGAGGGAGAAAAATCAAGAGATTTGATCAAAGACAAAATTGAACCAAGTGCT c.2520
K N R E G E K S R D L I K D K I E P S A p.840
. . . . . . g.116061
AAGGATTCTTTCATTGAAAATAGCAGCAGCAACTGTACCAGTGGCAGCAGCAAGCCGAAT c.2580
K D S F I E N S S S N C T S G S S K P N p.860
. . . . . . g.116121
AGCCCCAGCATTTCCCCTTCAATACTTAGTAACACGGAGCACAAGAGGGGACCTGAGGTC c.2640
S P S I S P S I L S N T E H K R G P E V p.880
. . . . . . g.116181
ACTTCCCAAGGGGTTCAGACTTCCAGCCCAGCATGTAAACAAGAGAAAGACGATAAGGAA c.2700
T S Q G V Q T S S P A C K Q E K D D K E p.900
. . | 16 . . . . g.117892
GAGAAGAAAGACGCAGCTGA | GCAAGTTAGGAAATCAACATTGAATCCCAATGCAAAGGAG c.2760
E K K D A A E | Q V R K S T L N P N A K E p.920
. . | 17 . . . . g.118847
TTCAACCCACGTTCCTTCTCTCAG | CCAAAGCCTTCTACTACCCCAACTTCACCTCGGCCT c.2820
F N P R S F S Q | P K P S T T P T S P R P p.940
. . . . . . g.118907
CAAGCACAACCTAGCCCATCTATGGTGGGTCATCAACAGCCAACTCCAGTTTATACTCAG c.2880
Q A Q P S P S M V G H Q Q P T P V Y T Q p.960
. . . . . | 18. g.119348
CCTGTTTGTTTTGCACCAAATATGATGTATCCAGTCCCAGTGAGCCCAGGCGTGCAA | CCT c.2940
P V C F A P N M M Y P V P V S P G V Q | P p.980
. . . . . | 19 g.133936
TTATACCCAATACCTATGACGCCCATGCCAGTGAATCAAGCCAAGACATATAGAGCAG | TA c.3000
L Y P I P M T P M P V N Q A K T Y R A V | p.1000
. . . . . . g.133996
CCAAATATGCCCCAACAGCGGCAAGACCAGCATCATCAGAGTGCCATGATGCACCCAGCG c.3060
P N M P Q Q R Q D Q H H Q S A M M H P A p.1020
. . . . . . g.134056
TCAGCAGCGGGCCCACCGATTGCAGCCACCCCACCAGCTTACTCCACGCAATATGTTGCC c.3120
S A A G P P I A A T P P A Y S T Q Y V A p.1040
. . . . . . g.134116
TACAGTCCTCAGCAGTTCCCAAATCAGCCCCTTGTTCAGCATGTGCCACATTATCAGTCT c.3180
Y S P Q Q F P N Q P L V Q H V P H Y Q S p.1060
| 20 . . . . . . g.134493
CAG | CATCCTCATGTCTATAGTCCTGTAATACAGGGTAATGCTAGAATGATGGCACCACCA c.3240
Q | H P H V Y S P V I Q G N A R M M A P P p.1080
. . . . . . g.134553
ACACACGCCCAGCCTGGTTTAGTATCTTCTTCAGCAACTCAGTACGGGGCTCATGAGCAG c.3300
T H A Q P G L V S S S A T Q Y G A H E Q p.1100
. | 21 . . . . . g.140005
ACGCATGCGATGTATG | CATGTCCCAAATTACCATACAACAAGGAGACAAGCCCTTCTTTC c.3360
T H A M Y A | C P K L P Y N K E T S P S F p.1120
. | 22 . . . . . g.147367
TACTTTGCCA | TTTCCACGGGCTCCCTTGCTCAGCAGTATGCGCACCCTAACGCTACCCTG c.3420
Y F A I | S T G S L A Q Q Y A H P N A T L p.1140
. . . . . . g.147427
CACCCACATACTCCACACCCTCAGCCTTCAGCTACCCCCACTGGACAGCAGCAAAGCCAA c.3480
H P H T P H P Q P S A T P T G Q Q Q S Q p.1160
. . . | 23 . . . g.148444
CATGGTGGAAGTCATCCTGCACCCAGTCCTGTTCAG | CACCATCAGCACCAGGCCGCCCAG c.3540
H G G S H P A P S P V Q | H H Q H Q A A Q p.1180
. . . . . . g.148504
GCTCTCCATCTGGCCAGTCCACAGCAGCAGTCAGCCATTTACCACGCGGGGCTTGCGCCA c.3600
A L H L A S P Q Q Q S A I Y H A G L A P p.1200
. . . . . . g.148564
ACTCCACCCTCCATGACACCTGCCTCCAACACGCAGTCGCCACAGAATAGTTTCCCAGCA c.3660
T P P S M T P A S N T Q S P Q N S F P A p.1220
. . . . . . g.148624
GCACAACAGACTGTCTTTACGATCCATCCTTCTCACGTTCAGCCGGCGTATACCAACCCA c.3720
A Q Q T V F T I H P S H V Q P A Y T N P p.1240
. . | 24 . . . . g.150867
CCCCACATGGCCCACGTACCTCAG | GCTCATGTACAGTCAGGAATGGTTCCTTCTCATCCA c.3780
P H M A H V P Q | A H V Q S G M V P S H P p.1260
. . . . . . g.150927
ACTGCCCATGCGCCAATGATGCTAATGACGACACAGCCACCCGGCGGTCCCCAGGCCGCC c.3840
T A H A P M M L M T T Q P P G G P Q A A p.1280
. . . . . . g.150987
CTCGCTCAAAGTGCACTACAGCCCATTCCAGTCTCGACAACAGCGCATTTCCCCTATATG c.3900
L A Q S A L Q P I P V S T T A H F P Y M p.1300
. | 25 . . . g.151883
ACGCACCCTTCAG | TACAAGCCCACCACCAACAGCAGTTGTAA c.3942
T H P S V | Q A H H Q Q Q L X p.1313
. . . . . . g.151943
ggctgccctggaggaaccgaaaggccaaattccctcctcccttctactgcttctaccaac c.*60
. . . . . . g.152003
tggaagcacagaaaactagaatttcatttattttgtttttaaaatatatatgttgatttc c.*120
. . . . . . g.152063
ttgtaacatccaataggaatgctaacagttcacttgcagtggaagatacttggaccgagt c.*180
. . . . . . g.152123
agaggcatttaggaacttgggggctattccataattccatatgctgtttcagagtcccgc c.*240
. . . . . . g.152183
aggtaccccagctctgcttgccgaaactggaagttatttattttttaataacccttgaaa c.*300
. . . . . . g.152243
gtcatgaacacatcagctagcaaaagaagtaacaagagtgattcttgctgctattactgc c.*360
. . . . . . g.152303
taaaaaaaaaaaaaaaaaaaaatcaagacttggaacgcccttttactaaacttgacaaag c.*420
. . . . . . g.152363
tttcagtaaattcttaccgtcaaactgacggattattatttataaatcaagtttgatgag c.*480
. . . . . . g.152423
gtgatcactgtctacagtggttcaacttttaagttaagggaaaaacttttactttgtaga c.*540
. . . . . g.152481
taatataaaataaaaacttaaaaaaaatttaaaaaataaaaaaagttttaaaaactga c.*598
(downstream sequence)
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