(used for variant description)
(last modified September 10, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_002599.4 in the PDE2A gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000011.9, covering PDE2A transcript NM_002599.4.
(upstream sequence)
g.5006
tgcatt c.-241
. . . . . . g.5066
atcagacctgctccaacctcctcccagagccagccgagcagcagaggcagtggcagcggg c.-181
. . . . . . g.5126
agaggcgggagcagcggggcagcagagctggattggggtgttgagtccaggctgagtagg c.-121
. . . . . . g.5186
gggcagcccactgctcttggtccctgtgcctgctgggggtgccctgccctgaactccagg c.-61
. . . . . . g.5246
cagcggggacagggcgaggtgccaccttagtctggctggggaggcggacgatgaggagtg c.-1
. . . . . . g.5306
ATGGGGCAGGCATGCGGCCACTCCATCCTCTGCAGGAGCCAGCAGTACCCGGCAGCGCGA c.60
M G Q A C G H S I L C R S Q Q Y P A A R p.20
. | 02 . . . . . g.37176
CCGGCTGAGCC | GCGGGGCCAGCAGGTCTTCCTCAAGCCGGACGAGCCGCCGCCGCCGCCG c.120
P A E P | R G Q Q V F L K P D E P P P P P p.40
. . | 03 . . . . g.70738
CAGCCATGCGCCGACAGCCTGCAG | GACGCCTTGCTGAGTCTGGGCTCTGTCATCGACATT c.180
Q P C A D S L Q | D A L L S L G S V I D I p.60
. . . . . | 04 . g.74233
TCAGGCCTGCAACGTGCTGTCAAGGAGGCCCTGTCAGCTGTGCTCCCCCGAGTG | GAAACT c.240
S G L Q R A V K E A L S A V L P R V | E T p.80
. . . . . . g.74293
GTCTACACCTACCTACTGGATGGTGAGTCCCAGCTGGTGTGTGAGGACCCCCCACATGAG c.300
V Y T Y L L D G E S Q L V C E D P P H E p.100
. . | 05 . . . . g.81871
CTGCCCCAGGAGGGGAAAGTCCG | GGAGGCTATCATCTCCCAGAAGCGGCTGGGCTGCAAT c.360
L P Q E G K V R | E A I I S Q K R L G C N p.120
. . . . . . g.81931
GGGCTGGGCTTCTCAGACCTGCCAGGGAAGCCCTTGGCCAGGCTGGTGGCTCCACTGGCT c.420
G L G F S D L P G K P L A R L V A P L A p.140
. | 06 . . . . . g.82852
CCTGATACCCAAG | TGCTGGTCATGCCGCTAGCGGACAAGGAGGCTGGGGCCGTGGCAGCT c.480
P D T Q V | L V M P L A D K E A G A V A A p.160
| 07 . . . . . g.88148
GTCATCTTG | GTGCACTGTGGCCAGCTGAGTGATAATGAGGAATGGAGCCTGCAGGCGGTG c.540
V I L | V H C G Q L S D N E E W S L Q A V p.180
| 08 . . . . . g.88924
GAGAAGCAT | ACCCTGGTCGCCCTGCGGAGGGTGCAGGTCCTGCAGCAGCGCGGGCCCAGG c.600
E K H | T L V A L R R V Q V L Q Q R G P R p.200
. . . . . . g.88984
GAGGCTCCCCGAGCCGTCCAGAACCCCCCGGAGGGGACGGCGGAAGACCAGAAGGGCGGG c.660
E A P R A V Q N P P E G T A E D Q K G G p.220
. . . . | 09 . . g.89226
GCGGCGTACACCGACCGCGACCGCAAGATCCTCCAACTGTGCG | GGGAACTCTACGACCTG c.720
A A Y T D R D R K I L Q L C G | E L Y D L p.240
. . . | 10 . . . g.89496
GATGCCTCTTCCCTGCAGCTCAAAGTGCTCCAATAC | CTGCAGCAGGAGACCCGGGCATCC c.780
D A S S L Q L K V L Q Y | L Q Q E T R A S p.260
. . . . . | 11 . g.89670
CGCTGCTGCCTCCTGCTGGTGTCGGAGGACAATCTCCAGCTTTCTTGCAAG | GTCATCGGA c.840
R C C L L L V S E D N L Q L S C K | V I G p.280
. . . | 12 . . . g.90240
GACAAAGTGCTCGGGGAAGAGGTCAGCTTTCCC | TTGACAGGATGCCTGGGCCAGGTGGTG c.900
D K V L G E E V S F P | L T G C L G Q V V p.300
. . . | 13 . . g.90560
GAAGACAAGAAGTCCATCCAGCTGAAGGACCTCACCTCC | GAGGATGTACAACAGCTGCAG c.960
E D K K S I Q L K D L T S | E D V Q Q L Q p.320
. . . . . . g.90620
AGCATGTTGGGCTGTGAGCTGCAGGCCATGCTCTGTGTCCCTGTCATCAGCCGGGCCACT c.1020
S M L G C E L Q A M L C V P V I S R A T p.340
. . . . . | 14 . g.93282
GACCAGGTGGTGGCCTTGGCCTGCGCCTTCAACAAGCTAGAAGGAGACTT | GTTCACCGAC c.1080
D Q V V A L A C A F N K L E G D L | F T D p.360
. . . . . . g.93342
GAGGACGAGCATGTGATCCAGCACTGCTTCCACTACACCAGCACCGTGCTCACCAGCACC c.1140
E D E H V I Q H C F H Y T S T V L T S T p.380
. . . . | 15 . . g.93878
CTGGCCTTCCAGAAGGAACAGAAACTCAAGTGTGAGTGCCAG | GCTCTTCTCCAAGTGGCA c.1200
L A F Q K E Q K L K C E C Q | A L L Q V A p.400
. . | 16 . . . . g.94057
AAGAACCTCTTCACCCACCTGG | ATGACGTCTCTGTCCTGCTCCAGGAGATCATCACGGAG c.1260
K N L F T H L D | D V S V L L Q E I I T E p.420
. . | 17 . . . . g.94543
GCCAGAAACCTCAGCAACGCAGAGAT | CTGCTCTGTGTTCCTGCTGGATCAGAATGAGCTG c.1320
A R N L S N A E I | C S V F L L D Q N E L p.440
. . . | 18 . . g.94746
GTGGCCAAGGTGTTCGACGGGGGCGTGGTGGATGATGAG | AGCTATGAGATCCGCATCCCG c.1380
V A K V F D G G V V D D E | S Y E I R I P p.460
. . . . . . g.94806
GCCGATCAGGGCATCGCGGGACACGTGGCGACCACGGGCCAGATCCTGAACATCCCTGAC c.1440
A D Q G I A G H V A T T G Q I L N I P D p.480
. . . . . . g.94866
GCATATGCCCATCCGCTTTTCTACCGCGGCGTGGACGACAGCACCGGCTTCCGCACGCGC c.1500
A Y A H P L F Y R G V D D S T G F R T R p.500
. . . | 19. . . g.95163
AACATCCTCTGCTTCCCCATCAAGAACGAGAACCAGG | AGGTCATCGGTGTGGCCGAGCTG c.1560
N I L C F P I K N E N Q E | V I G V A E L p.520
. . . . . . g.95223
GTGAACAAGATCAATGGGCCATGGTTCAGCAAGTTCGACGAGGACCTGGCGACGGCCTTC c.1620
V N K I N G P W F S K F D E D L A T A F p.540
. . . | 20 . . . g.95968
TCCATCTACTGCGGCATCAGCATCGCCCAT | TCTCTCCTATACAAAAAAGTGAATGAGGCT c.1680
S I Y C G I S I A H | S L L Y K K V N E A p.560
. . . . | 21 . g.96899
CAGTATCGCAGCCACCTGGCCAATGAGATGATGATGTACCACATGAAG | GTCTCCGATGAT c.1740
Q Y R S H L A N E M M M Y H M K | V S D D p.580
. . . . . . g.96959
GAGTATACCAAACTTCTCCATGATGGGATCCAGCCTGTGGCTGCCATTGACTCCAATTTT c.1800
E Y T K L L H D G I Q P V A A I D S N F p.600
. . . . . | 22 . g.97515
GCAAGTTTCACCTATACCCCTCGTTCCCTGCCCGAGGATGACACGTCCATG | GCCATCCTG c.1860
A S F T Y T P R S L P E D D T S M | A I L p.620
. . . . . . g.97575
AGCATGCTGCAGGACATGAATTTCATCAACAACTACAAAATTGACTGCCCGACCCTGGCC c.1920
S M L Q D M N F I N N Y K I D C P T L A p.640
| 23 . . . . . . g.98032
CG | GTTCTGTTTGATGGTGAAGAAGGGCTACCGGGATCCCCCCTACCACAACTGGATGCAC c.1980
R | F C L M V K K G Y R D P P Y H N W M H p.660
. . . . . . g.98092
GCCTTTTCTGTCTCCCACTTCTGCTACCTGCTCTACAAGAACCTGGAGCTCACCAACTAC c.2040
A F S V S H F C Y L L Y K N L E L T N Y p.680
| 24 . . . . . . g.98535
CTCGA | GGACATCGAGATCTTTGCCTTGTTTATTTCCTGCATGTGTCATGACCTGGACCAC c.2100
L E | D I E I F A L F I S C M C H D L D H p.700
. . . | 25 . . . g.98856
AGAGGCACAAACAACTCTTTCCAGGTGGCCTCG | AAATCTGTGCTGGCTGCGCTCTACAGC c.2160
R G T N N S F Q V A S | K S V L A A L Y S p.720
. . | 26 . . . . g.99884
TCTGAGGGCTCCGTCATGGAG | AGGCACCACTTTGCTCAGGCCATCGCCATCCTCAACACC c.2220
S E G S V M E | R H H F A Q A I A I L N T p.740
. . . | 27 . . . g.100094
CACGGCTGCAACATCTTTGATCATTTCTCCCGGAAG | GACTATCAGCGCATGCTGGATCTG c.2280
H G C N I F D H F S R K | D Y Q R M L D L p.760
. . . . . . g.100154
ATGCGGGACATCATCTTGGCCACAGACCTGGCCCACCATCTCCGCATCTTCAAGGACCTC c.2340
M R D I I L A T D L A H H L R I F K D L p.780
. | 28 . . . . . g.100488
CAGAAGATGGCTGAGG | TGGGCTACGACCGAAACAACAAGCAGCACCACAGACTTCTCCTC c.2400
Q K M A E V | G Y D R N N K Q H H R L L L p.800
. . . . . . g.100548
TGCCTCCTCATGACCTCCTGTGACCTCTCTGACCAGACCAAGGGCTGGAAGACTACGAGA c.2460
C L L M T S C D L S D Q T K G W K T T R p.820
| 29 . . . | 30 . g.101126
AAGATCGCG | GAGCTGATCTACAAAGAATTCTTCTCCCAGGGAGACCTG | GAGAAGGCCATG c.2520
K I A | E L I Y K E F F S Q G D L | E K A M p.840
. . . . . . g.101186
GGCAACAGGCCGATGGAGATGATGGACCGGGAGAAGGCCTATATCCCTGAGCTGCAAATC c.2580
G N R P M E M M D R E K A Y I P E L Q I p.860
. . . | 31 . . . g.101884
AGCTTCATGGAGCACATTGCAATGCCCATCTACAA | GCTGTTGCAGGACCTGTTCCCCAAA c.2640
S F M E H I A M P I Y K | L L Q D L F P K p.880
. . . . . . g.101944
GCGGCAGAGCTGTACGAGCGCGTGGCCTCCAACCGTGAGCACTGGACCAAGGTGTCCCAC c.2700
A A E L Y E R V A S N R E H W T K V S H p.900
. . . . . . g.102004
AAGTTCACCATCCGCGGCCTCCCAAGTAACAACTCGCTGGACTTCCTGGATGAGGAGTAC c.2760
K F T I R G L P S N N S L D F L D E E Y p.920
. . . . . . g.102064
GAGGTGCCTGATCTGGATGGCACTAGGGCCCCCATCAATGGCTGCTGCAGCCTTGATGCT c.2820
E V P D L D G T R A P I N G C C S L D A p.940
g.102070
GAGTGA c.2826
E X p.941
. . . . . . g.102130
tcccctccagggacacttccctgcccaggccacctcccacagccctccactggtctggcc c.*60
. . . . . . g.102190
agatgcactgggaacagagccacgggtcctgggtcctagaccaggacttcctgtgtgacc c.*120
. . . . . . g.102250
ctggacaagtactaccttcctgggcctcagctttctcgtctgtataatggaagcaagact c.*180
. . . . . . g.102310
tccaacctcacggagactttgtaatttgttttctgagagcacaggggtgaccaatgagca c.*240
. . . . . . g.102370
gtgggccctactctgcacctctgaccacaccttggcaagtctttcccaagccattctttg c.*300
. . . . . . g.102430
tctgagcagcttgatggtttctccttgccccatttctgccccaccagatctttgctcctt c.*360
. . . . . . g.102490
tccctttgaggactcccaccctttggggtctccaggatcctcatggaaggggaaggtgag c.*420
. . . . . . g.102550
acatctgagtgagcagagtgtggcatcttggaaacagtccttagttctgtgggaggacta c.*480
. . . . . . g.102610
gaaacagccgcggggcgaaggccccctgaggaccactactatactgatggtgggattggg c.*540
. . . . . . g.102670
acctgggggatacaggggccccaggaagaagctgccagaggggcagctcagtgctctgca c.*600
. . . . . . g.102730
gagaggggccctggggagaagcaggatgggattgatgggcaggagggatccccgcactgg c.*660
. . . . . . g.102790
gagacaggcccaggtatgaatgagccagccatgcttcctcctgcctgtgtgacgctgggc c.*720
. . . . . . g.102850
gagtctcttcccctgtctgggccaaacagggagcgggtaagacaatccatgctctaagat c.*780
. . . . . . g.102910
ccattttagatcaatgtctaaaatagctctatcgctctgcggagtcccagcagaggctat c.*840
. . . . . . g.102970
ggaatgtttctgcaaccctaaggcacagagagcccaaccctgagtgtctcagaggccccc c.*900
. . . . . . g.103030
tgagtgttccccttggcctgagccccttacccattcctgcagccagtgagagacctggcc c.*960
. . . . . . g.103090
tcagccctggcagggctctctcttcaaggccatatccacctgtgccctggggcttgggag c.*1020
. . . . . . g.103150
accccatagggccgggactcttgggtcagcccggccactggcttctctctttttctctgt c.*1080
. . . . . . g.103210
ttcattctgtgtgcgttgtggggtgggggagggggtccacctgccttacctttctgagtt c.*1140
. . . . . . g.103270
gcctttagagagatgcgtttttctaggactctgtgcaactgtcgtatatggtcccgtggg c.*1200
. . . . g.103314
ctgaccgctttgtacatgagaataaatctatttctttctaccag c.*1244
(downstream sequence)
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