(used for variant description)
(last modified January 6, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_001257360.1 in the AMPD2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000001.10, covering AMPD2 transcript NM_001257360.1.
(upstream sequence)
. . g.5026
gcggggccaggcgggggcggggccaa c.-541
. . . . . . g.5086
gggccgcagagcctggcgcggagccggcgagattttggtggggtctcacctgttgcgtga c.-481
. . . . . . g.5146
ctcccccacagtccggccgcgggagtccgaccctgaatgcccagggagtgttgagagaaa c.-421
. . . . . . g.5206
tctggacgagtttcgggtcccgctcccttgggagcacgtggcctaccagcctctcgattg c.-361
. . . . . . g.5266
cagggttgggtggtcgcgacaccggggtcgccttgaggccagtccggctgccgaggtctg c.-301
. . . . . . g.5326
cgggagtccacctccggccagctggcaattttgaaagactgccttactttccccatctca c.-241
. . . . . . g.5386
gtgccagggcaggggcccttggagtgacttggctggggtctgtggcccgatccccctgcc c.-181
. . . . . . g.5446
gtccctcaggacccgggctttctgctgtacagacttctcgtgggcagcctcccctcggaa c.-121
. . | 02 . . . g.6141
ctcgggcatcatggcctcag | gcccagccaccatcagtcacgtcactcctgggactgagga c.-61
. . . . . . g.6201
ggcaggggagggataaggggcagagatggaggccccactccccgaggttgcctagacaac c.-1
. . . . . . g.6261
ATGAGAAATCGTGGCCAGGGCCTCTTCCGCCTGCGGAGCCGCTGCTTCCTGCATCAGTCA c.60
M R N R G Q G L F R L R S R C F L H Q S p.20
. . . . . . g.6321
CTCCCGCTGGGGGCGGGGCGGAGGAAGGGGTTGGATGTGGCAGAGCCAGGCCCCAGCCGG c.120
L P L G A G R R K G L D V A E P G P S R p.40
. . . . . . g.6381
TGCCGCTCAGACTCCCCCGCTGTCGCCGCCGTGGTCCCAGCCATGGCATCCTATCCATCT c.180
C R S D S P A V A A V V P A M A S Y P S p.60
. . . . . . g.6441
GGCTCTGGCAAGCCCAAGGCCAAATATCCCTTTAAGAAGCGGGCCAGCCTGCAGGCCTCC c.240
G S G K P K A K Y P F K K R A S L Q A S p.80
. | 03 . . . . . g.10537
ACTGCAGCTCCAG | AGGCTCGGGGTGGTCTGGGGGCCCCTCCGCTGCAGTCTGCCCGATCC c.300
T A A P E | A R G G L G A P P L Q S A R S p.100
. . . . . . g.10597
CTGCCGGGCCCCGCCCCCTGCCTCAAGCACTTCCCGCTCGACCTGCGCACGTCTATGGAT c.360
L P G P A P C L K H F P L D L R T S M D p.120
. . | 04 . . . . g.10885
GGCAAATGCAAGGAGATCGCCGAG | GAGCTGTTCACCCGCTCACTGGCTGAGAGCGAGCTC c.420
G K C K E I A E | E L F T R S L A E S E L p.140
. . . . . . g.10945
CGTAGTGCCCCGTATGAGTTCCCCGAGGAGAGCCCCATTGAACAGCTGGAGGAGCGGCGG c.480
R S A P Y E F P E E S P I E Q L E E R R p.160
. . . | 05 . . . g.11372
CAGCGGCTGGAGCGGCAGATCAGCCAGGATGTCAA | GCTGGAGCCAGACATCCTGCTTCGG c.540
Q R L E R Q I S Q D V K | L E P D I L L R p.180
. . . . | 06 . . g.11522
GCCAAGCAAGATTTCCTGAAGACGGACAGTGACTCGGACCTACA | GCTCTACAAGGAACAG c.600
A K Q D F L K T D S D S D L Q | L Y K E Q p.200
. . . . . . g.11582
GGTGAGGGGCAGGGTGACCGGAGCCTGCGGGAGCGTGATGTGCTGGAACGGGAGTTTCAG c.660
G E G Q G D R S L R E R D V L E R E F Q p.220
. . . | 07 . . . g.11940
CGGGTCACCATCTCTGGGGAGGAGAAGTGTGGG | GTGCCGTTCACAGACCTGCTGGATGCA c.720
R V T I S G E E K C G | V P F T D L L D A p.240
. . . . . . g.12000
GCCAAGAGTGTGGTGCGGGCGCTCTTCATCCGGGAGAAGTACATGGCCCTGTCCCTGCAG c.780
A K S V V R A L F I R E K Y M A L S L Q p.260
. . . . . . g.12060
AGCTTCTGCCCCACCACCCGCCGCTACCTGCAGCAGCTGGCTGAAAAGCCTCTGGAGACC c.840
S F C P T T R R Y L Q Q L A E K P L E T p.280
. . . . | 08 . . g.12382
CGGACCTATGAACAGGGCCCCGACACCCCTGTGTCTGCTG | ATGCCCCGGTGCACCCCCCT c.900
R T Y E Q G P D T P V S A D | A P V H P P p.300
. . . . . . g.12442
GCGCTGGAGCAGCACCCGTATGAGCACTGTGAGCCAAGCACCATGCCTGGGGACCTGGGC c.960
A L E Q H P Y E H C E P S T M P G D L G p.320
. . . . . . g.12502
TTGGGTCTGCGCATGGTGCGGGGTGTGGTGCACGTCTACACCCGCAGGGAACCCGACGAG c.1020
L G L R M V R G V V H V Y T R R E P D E p.340
| 09 . . . . . . g.12674
CA | TTGCTCAGAGGTGGAGCTGCCATACCCTGACCTGCAGGAATTTGTGGCTGACGTCAAT c.1080
H | C S E V E L P Y P D L Q E F V A D V N p.360
. . . | 10 . . . g.12989
GTGCTGATGGCCCTGATTATCAATGGCCCCAT | AAAGTCATTCTGCTACCGCCGGCTGCAG c.1140
V L M A L I I N G P I | K S F C Y R R L Q p.380
. . . . . . g.13049
TACCTGAGCTCCAAGTTCCAGATGCATGTGCTACTCAATGAGATGAAGGAGCTGGCCGCC c.1200
Y L S S K F Q M H V L L N E M K E L A A p.400
. . . . | 11 . . g.13288
CAGAAGAAAGTGCCACACCGAGATTTCTACAACATCCGCAAG | GTGGACACCCACATCCAT c.1260
Q K K V P H R D F Y N I R K | V D T H I H p.420
. . . . . . g.13348
GCCTCGTCCTGCATGAACCAGAAGCATCTGCTGCGCTTCATCAAGCGGGCAATGAAGCGG c.1320
A S S C M N Q K H L L R F I K R A M K R p.440
. . . . . . g.13408
CACCTGGAGGAGATCGTGCACGTGGAGCAGGGCCGTGAACAGACGCTGCGGGAGGTCTTT c.1380
H L E E I V H V E Q G R E Q T L R E V F p.460
. . . . . | 12. g.13554
GAGAGCATGAATCTCACGGCCTACGACCTGAGTGTGGACACGCTGGATGTGCATGCG | GAC c.1440
E S M N L T A Y D L S V D T L D V H A | D p.480
. . . . . . g.13614
AGGAACACTTTCCATCGCTTTGACAAGTTTAATGCCAAATACAACCCTATTGGGGAGTCC c.1500
R N T F H R F D K F N A K Y N P I G E S p.500
. . . . . . g.13674
GTCCTCCGAGAGATCTTCATCAAGACGGACAACAGGGTATCTGGGAAGTACTTTGCTCAC c.1560
V L R E I F I K T D N R V S G K Y F A H p.520
| 13 . . . . . g.13881
ATCATCAAG | GAGGTGATGTCAGACCTGGAGGAGAGCAAATACCAGAATGCAGAGCTGCGG c.1620
I I K | E V M S D L E E S K Y Q N A E L R p.540
. . . . . . g.13941
CTCTCCATTTACGGGCGCTCGAGGGATGAGTGGGACAAGCTGGCGCGCTGGGCCGTCATG c.1680
L S I Y G R S R D E W D K L A R W A V M p.560
. . . . . | 14 . g.14303
CACCGCGTGCACTCCCCCAACGTGCGCTGGCTGGTGCAGGTGCCCCGCCTCTT | TGATGTG c.1740
H R V H S P N V R W L V Q V P R L F | D V p.580
. . . . . . g.14363
TACCGTACCAAGGGCCAGCTGGCCAACTTCCAGGAGATGCTGGAGAACATCTTCCTGCCA c.1800
Y R T K G Q L A N F Q E M L E N I F L P p.600
. . . . . . g.14423
CTGTTCGAGGCCACTGTGCACCCTGCCAGCCACCCGGAACTGCATCTCTTCTTAGAGCAC c.1860
L F E A T V H P A S H P E L H L F L E H p.620
| 15 . . . . . . g.14574
| GTGGATGGTTTTGACAGCGTGGATGATGAGTCCAAGCCTGAAAACCATGTCTTCAACCTG c.1920
| V D G F D S V D D E S K P E N H V F N L p.640
. . . . . . g.14634
GAGAGCCCCCTGCCTGAGGCGTGGGTGGAGGAGGACAACCCACCCTATGCCTACTACCTG c.1980
E S P L P E A W V E E D N P P Y A Y Y L p.660
. . . . | 16 . . g.14999
TACTACACCTTTGCCAACATGGCCATGTTGAACCACCTGCGCAG | GCAGAGGGGCTTCCAC c.2040
Y Y T F A N M A M L N H L R R | Q R G F H p.680
. . . . . . g.15059
ACGTTTGTGCTGAGGCCACACTGTGGGGAGGCTGGGCCCATCCACCACCTGGTGTCAGCC c.2100
T F V L R P H C G E A G P I H H L V S A p.700
. . . . | 17 . . g.15435
TTCATGCTGGCTGAGAACATTTCCCACGGGCTCCTTCTGCGCAAG | GCCCCCGTCCTGCAG c.2160
F M L A E N I S H G L L L R K | A P V L Q p.720
. . . . . . g.15495
TACCTGTACTACCTGGCCCAGATCGGCATCGCCATGTCTCCGCTCAGCAACAACAGCCTC c.2220
Y L Y Y L A Q I G I A M S P L S N N S L p.740
. . . . . . g.15555
TTCCTCAGCTATCACCGGAATCCGCTACCGGAGTACCTGTCCCGCGGCCTCATGGTCTCC c.2280
F L S Y H R N P L P E Y L S R G L M V S p.760
. . . | 18 . . g.15891
CTGTCCACTGATGATCCCTTGCAGTTCCACTTCACCAAG | GAGCCGCTGATGGAGGAGTAC c.2340
L S T D D P L Q F H F T K | E P L M E E Y p.780
. . . . . . g.15951
AGCATCGCCACCCAGGTGTGGAAGCTCAGCTCCTGCGATATGTGTGAGCTGGCCCGCAAC c.2400
S I A T Q V W K L S S C D M C E L A R N p.800
. . . | 19 . . . g.16160
AGCGTGCTCATGAGCGGCTTCTCGCACAAG | GTAAAGAGCCACTGGCTGGGACCCAACTAT c.2460
S V L M S G F S H K | V K S H W L G P N Y p.820
. . . . . . g.16220
ACCAAGGAAGGCCCTGAGGGGAATGACATCCGCCGGACCAATGTGCCAGACATCCGCGTG c.2520
T K E G P E G N D I R R T N V P D I R V p.840
. . . . . . g.16280
GGCTACCGCTACGAGACCCTGTGCCAGGAGCTGGCGCTCATCACGCAGGCAGTCCAGAGT c.2580
G Y R Y E T L C Q E L A L I T Q A V Q S p.860
. . . . . . g.16340
GAGATGCTGGAGACCATTCCAGAGGAGGCGGGTATCACCATGAGCCCAGGGCCTCAATGA c.2640
E M L E T I P E E A G I T M S P G P Q X p.879
. . . . . . g.16400
gcctggtccatgaagtgcccaccacatcgcagcacttttaccacgttttgtcctcagacc c.*60
. . . . . . g.16460
ccgcccatgctgtgtggtctctgcatgtctccattcttctctgtctctgtcttgcatgtc c.*120
. . . . . . g.16520
tcctaccatgtcactgtccctgggccacccagtgaaagcaaagcctgggaatctgctcat c.*180
. . . . . . g.16580
tgttgtttgggctcaggtattgagcctgatggcccaggtattgagggcctcccctgctgg c.*240
. . . . . . g.16640
tggccctgtcctgggatcctcagaagcctgactgtcctatgggcttctccagtgtccaca c.*300
. . . . . . g.16700
ggggcttgggatggttgtggggggctggcccctctagcctttccggtccttcctgggcaa c.*360
. . . . . . g.16760
atctaagccttggccagggccgaagtttaggcccctgtcttgttcatgtagccgaggggc c.*420
. . . . . . g.16820
aggcgggggacctctacacctctgctgtgggcacggggctgctgagggtctgtggaactc c.*480
. . . . . . g.16880
cagcagctctgcactgggtagagctgggcctagagctcagtcacaggcctgggcttcctg c.*540
. . . . . . g.16940
gcctgagtgggtagacgcaggcggcagaggtgctggaccacatctccgccaagtcactgc c.*600
. . . . . . g.17000
ccagcagccttctccgtcctgtccccagcccacgtgctccttgggtgtcagcttcctgtg c.*660
. . . . . . g.17060
cctctgtgggagagggcagctgccttgtgttatgtctggggccacagttgctgcaaagtc c.*720
. . . . . . g.17120
ctggatctgccactcaaccccgggagtggtgttcccagtgtggctcccagagctttgacc c.*780
. . . . . . g.17180
agattgtgatcccagctggcccctatgttgtgttctggactgaggcctttgctgtgaact c.*840
. . . . . . g.17240
gcagtgtttcatacgaaccatctttcctagtgcatgagaaataaagattatttaagtaat c.*900
g.17243
gag c.*903
(downstream sequence)
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