(used for variant description)
(last modified December 2, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_001681.3 in the ATP2A2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_007097.2, covering ATP2A2 transcript NM_001681.3.
(upstream sequence)
. . g.4623
ggcagcggccgataaatgctatt c.-541
. . . . . . g.4683
agagcagccgccgcggagccgtccccgacgccacctccttttccttcgccgcagtttcct c.-481
. . . . . . g.4743
ccgccgctgtcgggcgtgcggcgctgagggacccgggcgagcgcgccgcgcaccgccccg c.-421
. . . . . . g.4803
ccggctcgcctccctcgccgcgttccgccctcagtggtctgccgggcgccccctcctccg c.-361
. . . . . . g.4863
gcccgggcggggcctctgatcgcctcaagagagcggggagggggctcgggggccgcggcc c.-301
. . . . . . g.4923
tgccctcccggcgggcggctgagggcgagggaggccctcccttctggcgaggggagggag c.-241
. . . . . . g.4983
ggtgggtcaggagcccccaacccgccctgcggagctcggggccgcgcgaggggcggttgt c.-181
. . . . . . g.5043
ctgggggagggggcgcggggtgattcagcgcccggcgaggcggaagcggccgcaagagga c.-121
. . . . . . g.5103
ggaggggagagcccgtccgcgcctgggctcccggggtggcacgagcccgcggccggagtg c.-61
. . . . . . g.5163
cgaggcggaggcgaggaggccgcggggacgggaggcgaggccggccgggcccccgaagcc c.-1
. . . . . . g.5223
ATGGAGAACGCGCACACCAAGACGGTGGAGGAGGTGCTGGGCCACTTCGGCGTCAACGAG c.60
M E N A H T K T V E E V L G H F G V N E p.20
. . . . . | 02 g.5979
AGTACGGGGCTGAGCCTGGAACAGGTCAAGAAGCTTAAGGAGAGATGGGGCTCCAACG | AG c.120
S T G L S L E Q V K K L K E R W G S N E | p.40
. | 03 . . . . . g.6130
TTACCGGCTGAAGAAG | GAAAAACCTTGCTGGAACTTGTGATTGAGCAGTTTGAAGACTTG c.180
L P A E E G | K T L L E L V I E Q F E D L p.60
. . . | 04 . . g.15414
CTAGTTAGGATTTTATTACTGGCAGCATGTATATCTTTT | GTTTTGGCTTGGTTTGAAGAA c.240
L V R I L L L A A C I S F | V L A W F E E p.80
. . . . . . g.15474
GGTGAAGAAACAATTACAGCCTTTGTAGAACCTTTTGTAATTTTACTCATATTAGTAGCC c.300
G E E T I T A F V E P F V I L L I L V A p.100
. . | 05 . . . . g.20008
AATGCAATTGTGGGTGTATGGCAG | GAAAGAAATGCTGAAAATGCCATCGAAGCCCTTAAG c.360
N A I V G V W Q | E R N A E N A I E A L K p.120
. . . . . . g.20068
GAATATGAGCCTGAAATGGGCAAAGTGTATCGACAGGACAGAAAGAGTGTGCAGCGGATT c.420
E Y E P E M G K V Y R Q D R K S V Q R I p.140
. . . . | 06 . . g.46382
AAAGCTAAAGACATAGTTCCTGGTGATATTGTAGAAATTGCTG | TTGGTGACAAAGTTCCT c.480
K A K D I V P G D I V E I A V | G D K V P p.160
. . . . . . g.46442
GCTGATATAAGGTTAACTTCCATCAAATCTACCACACTAAGAGTTGACCAGTCAATTCTC c.540
A D I R L T S I K S T T L R V D Q S I L p.180
| 07 . . . . . . g.49819
ACAG | GTGAATCTGTCTCTGTCATCAAGCACACTGATCCCGTCCCTGACCCACGAGCTGTC c.600
T G | E S V S V I K H T D P V P D P R A V p.200
. . . | 08 . . . g.50956
AACCAAGATAAAAAGAACATGCTGTTTTCT | GGTACAAACATTGCTGCTGGGAAAGCTATG c.660
N Q D K K N M L F S | G T N I A A G K A M p.220
. . . . . . g.51016
GGAGTGGTGGTAGCAACTGGAGTTAACACCGAAATTGGCAAGATCCGGGATGAAATGGTG c.720
G V V V A T G V N T E I G K I R D E M V p.240
. . . . . . g.51076
GCAACAGAACAGGAGAGAACACCCCTTCAGCAAAAACTAGATGAATTTGGGGAACAGCTT c.780
A T E Q E R T P L Q Q K L D E F G E Q L p.260
. . . . . . g.51136
TCCAAAGTCATCTCCCTTATTTGCATTGCAGTCTGGATCATAAATATTGGGCACTTCAAT c.840
S K V I S L I C I A V W I I N I G H F N p.280
. . . . . . g.51196
GACCCGGTTCATGGAGGGTCCTGGATCAGAGGTGCTATTTACTACTTTAAAATTGCAGTG c.900
D P V H G G S W I R G A I Y Y F K I A V p.300
. . . . . . g.51256
GCCCTGGCTGTAGCAGCCATTCCTGAAGGTCTGCCTGCAGTCATCACCACCTGCCTGGCT c.960
A L A V A A I P E G L P A V I T T C L A p.320
. . . . . . g.51316
CTTGGAACTCGCAGAATGGCAAAGAAAAATGCCATTGTTCGAAGCCTCCCGTCTGTGGAA c.1020
L G T R R M A K K N A I V R S L P S V E p.340
. . . . . . g.51376
ACCCTTGGTTGTACTTCTGTTATCTGCTCAGACAAGACTGGTACACTTACAACAAACCAG c.1080
T L G C T S V I C S D K T G T L T T N Q p.360
. | 09 . . . . . g.56015
ATGTCAGTCTGCAGG | ATGTTCATTCTGGACAGAGTGGAAGGTGATACTTGTTCCCTTAAT c.1140
M S V C R | M F I L D R V E G D T C S L N p.380
. . . . | 10 . . g.56570
GAGTTTACCATAACTGGATCAACTTATGCACCTATTGGAGAAGT | GCATAAAGATGATAAA c.1200
E F T I T G S T Y A P I G E V | H K D D K p.400
. . . . . . g.56630
CCAGTGAATTGTCACCAGTATGATGGTCTGGTAGAATTAGCAACAATTTGTGCTCTTTGT c.1260
P V N C H Q Y D G L V E L A T I C A L C p.420
. . | 11. . . . g.57418
AATGACTCTGCTTTGGATTACAATGAG | GCAAAGGGTGTGTATGAAAAAGTTGGAGAAGCT c.1320
N D S A L D Y N E | A K G V Y E K V G E A p.440
. . . . . . g.57478
ACAGAGACTGCTCTCACTTGCCTAGTAGAGAAGATGAATGTATTTGATACCGAATTGAAG c.1380
T E T A L T C L V E K M N V F D T E L K p.460
. . . | 12 . . g.62675
GGTCTTTCTAAAATAGAACGTGCAAATGCCTGCAACTCA | GTCATTAAACAGCTGATGAAA c.1440
G L S K I E R A N A C N S | V I K Q L M K p.480
. . . . . . g.62735
AAGGAATTCACTCTAGAGTTTTCACGTGACAGAAAGTCAATGTCGGTTTACTGTACACCA c.1500
K E F T L E F S R D R K S M S V Y C T P p.500
. . . . | 13 . . g.62894
AATAAACCAAGCAGGACATCAATGAGCAAGATGTTTGTGAAG | GGTGCTCCTGAAGGTGTC c.1560
N K P S R T S M S K M F V K | G A P E G V p.520
. . . . . . g.62954
ATTGACAGGTGCACCCACATTCGAGTTGGAAGTACTAAGGTTCCTATGACCTCTGGAGTC c.1620
I D R C T H I R V G S T K V P M T S G V p.540
. . . . . . g.63014
AAACAGAAGATCATGTCTGTCATTCGAGAGTGGGGTAGTGGCAGCGACACACTGCGATGC c.1680
K Q K I M S V I R E W G S G S D T L R C p.560
. . . . . . g.63074
CTGGCCCTGGCCACTCATGACAACCCACTGAGAAGAGAAGAAATGCACCTTGAGGACTCT c.1740
L A L A T H D N P L R R E E M H L E D S p.580
. . | 14 . . . . g.64071
GCCAACTTTATTAAATATGAG | ACCAATCTGACCTTCGTTGGCTGCGTGGGCATGCTGGAT c.1800
A N F I K Y E | T N L T F V G C V G M L D p.600
. . . . . . g.64131
CCTCCGAGAATCGAGGTGGCCTCCTCCGTGAAGCTGTGCCGGCAAGCAGGCATCCGGGTC c.1860
P P R I E V A S S V K L C R Q A G I R V p.620
. . . . . . g.64191
ATCATGATCACTGGGGACAACAAGGGCACTGCTGTGGCCATCTGTCGCCGCATCGGCATC c.1920
I M I T G D N K G T A V A I C R R I G I p.640
. . . . . . g.64251
TTCGGGCAGGATGAGGACGTGACGTCAAAAGCTTTCACAGGCCGGGAGTTTGATGAACTC c.1980
F G Q D E D V T S K A F T G R E F D E L p.660
. . . . . . g.64311
AACCCCTCCGCCCAGCGAGACGCCTGCCTGAACGCCCGCTGTTTTGCTCGAGTTGAACCC c.2040
N P S A Q R D A C L N A R C F A R V E P p.680
. . . . . | 15. g.65604
TCCCACAAGTCTAAAATCGTAGAATTTCTTCAGTCTTTTGATGAGATTACAGCTATG | ACT c.2100
S H K S K I V E F L Q S F D E I T A M | T p.700
. . . . . . g.65664
GGCGATGGCGTGAACGATGCTCCTGCTCTGAAGAAAGCCGAGATTGGCATTGCTATGGGC c.2160
G D G V N D A P A L K K A E I G I A M G p.720
. . . . . . g.65724
TCTGGCACTGCGGTGGCTAAAACCGCCTCTGAGATGGTCCTGGCGGATGACAACTTCTCC c.2220
S G T A V A K T A S E M V L A D D N F S p.740
. . . . . . g.65784
ACCATTGTGGCTGCCGTTGAGGAGGGGCGGGCAATCTACAACAACATGAAACAGTTCATC c.2280
T I V A A V E E G R A I Y N N M K Q F I p.760
. . . | 16 . . g.66627
CGCTACCTCATCTCGTCCAACGTCGGGGAAGTTGTCTG | TATTTTCCTGACAGCAGCCCTT c.2340
R Y L I S S N V G E V V C | I F L T A A L p.780
. . . . . . g.66687
GGATTTCCCGAGGCTTTGATTCCTGTTCAGCTGCTCTGGGTCAATCTGGTGACAGATGGC c.2400
G F P E A L I P V Q L L W V N L V T D G p.800
. . . . . . g.66747
CTGCCTGCCACTGCACTGGGGTTCAACCCTCCTGATCTGGACATCATGAATAAACCTCCC c.2460
L P A T A L G F N P P D L D I M N K P P p.820
. . . . . . g.66807
CGGAACCCAAAGGAACCATTGATCAGCGGGTGGCTCTTTTTCCGTTACTTGGCTATTGGC c.2520
R N P K E P L I S G W L F F R Y L A I G p.840
| 17 . . . . . . g.68318
T | GTTACGTCGGCGCTGCTACCGTGGGTGCTGCTGCATGGTGGTTCATTGCTGCTGACGGT c.2580
C | Y V G A A T V G A A A W W F I A A D G p.860
. . | 18. . . . g.68655
GGTCCAAGAGTGTCCTTCTACCAGCTG | AGTCATTTCCTACAGTGTAAAGAGGACAACCCG c.2640
G P R V S F Y Q L | S H F L Q C K E D N P p.880
. . . . . . g.68715
GACTTTGAAGGCGTGGATTGTGCAATCTTTGAATCCCCATACCCGATGACAATGGCGCTC c.2700
D F E G V D C A I F E S P Y P M T M A L p.900
. . . . | 19 . . g.69393
TCTGTTCTAGTAACTATAGAAATGTGTAACGCCCTCAACAG | CTTGTCCGAAAACCAGTCC c.2760
S V L V T I E M C N A L N S | L S E N Q S p.920
. . . . . . g.69453
TTGCTGAGGATGCCCCCCTGGGAGAACATCTGGCTCGTGGGCTCCATCTGCCTGTCCATG c.2820
L L R M P P W E N I W L V G S I C L S M p.940
. . . | 20 . . g.69595
TCACTCCACTTCCTGATCCTCTATGTCGAACCCTTGCCA | CTCATCTTCCAGATCACACCG c.2880
S L H F L I L Y V E P L P | L I F Q I T P p.960
. . . . . . g.69655
CTGAACGTGACCCAGTGGCTGATGGTGCTGAAAATCTCCTTGCCCGTGATTCTCATGGAT c.2940
L N V T Q W L M V L K I S L P V I L M D p.980
. . . . | 21 . g.73685
GAGACGCTCAAGTTTGTGGCCCGCAACTACCTGGAACCTG | CAATACTGGAGTAA c.2994
E T L K F V A R N Y L E P A | I L E X p.997
. . . . . . g.73745
ccgcttcctaaaccattttgcagaaatgtaagggtgttcggttgcgtgcatgtgcgtttt c.*60
. . . . . . g.73805
tagcaacacatctaccaaccctgtgcatgactgatgttggggaaaaagaaaagtaaaaaa c.*120
. . . . . . g.73865
cttcccaactcactttgtgttatgtggaggaaatgtgtattaccaatggggttgttagct c.*180
. . . . . . g.73925
tttaaatcaaaatactgattacagatgtacaatttagcttaatcagaaagcctctccaga c.*240
. . . . . . g.73985
gaagtttggtttctttgctgcaagaggaatgaggctctgtaaccttatctaagaacttgg c.*300
. . . . . . g.74045
aagccgtcagccaagtcgccacatttctctgcaaaatgtcatagcttatataaatgtaca c.*360
. . . . . . g.74105
gtattcaattgtaatgcatgccttcggttgtaagtagccagatccctctccagtgacatt c.*420
. . . . . . g.74165
ggaacatgctactttttaattggccctgtacagtttgcttatttataaattcattaaaaa c.*480
. . . . . . g.74225
cactacaggtgttgaatggttaaaatgtaggcctccagttcattttcagttattttctga c.*540
. . . . . . g.74285
gtgtgcagacagctatttcgcactgtattaaatgtaacttatttaatgaaatcagaagca c.*600
. . . . . . g.74345
gtagacagatgttggtgcaatacaaatattgtgatgcatttatcttaataaaatgctaaa c.*660
. . . . . . g.74405
tgtcaatttatcactgcgcatgtttgactttagactgtaaatagagatcagtttgtttct c.*720
. . . . . . g.74465
ttctgtgctggtaacaatgagcgtcgcacagacatggtttcaggtaaataaatctattct c.*780
g.74473
atgataaa c.*788
(downstream sequence)
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