(used for variant description)
(last modified July 25, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_000702.3 in the ATP1A2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008014.1, covering ATP1A2 transcript NM_000702.3.
(upstream sequence)
. g.5012
atttaaagctac c.-121
. . . . . . g.5072
cctgttgctttggctttctctgtctgccagggtctccgactgtcccagacgggctggtgt c.-61
. . . . . . g.5132
gggcttgggatcctcctggtgacctctcccgctaaggtccctcagccactctgccccaag c.-1
. | 02 . . . . . g.10224
ATGGGCCGTGGG | GCTGGCCGTGAGTACTCACCTGCCGCCACCACGGCAGAGAATGGGGGC c.60
M G R G | A G R E Y S P A A T T A E N G G p.20
. . . . . | 03. g.10465
GGCAAGAAGAAACAGAAGGAGAAGGAACTGGATGAGCTGAAGAAGGAGGTGGCAATG | GAT c.120
G K K K Q K E K E L D E L K K E V A M | D p.40
. . . . . | 04. g.12486
GACCACAAGCTGTCCTTGGATGAGCTGGGCCGCAAATACCAAGTGGACCTGTCCAAG | GGC c.180
D H K L S L D E L G R K Y Q V D L S K | G p.60
. . . . . . g.12546
CTCACCAACCAGCGGGCTCAGGACGTTCTGGCTCGAGATGGGCCCAACGCCCTCACACCA c.240
L T N Q R A Q D V L A R D G P N A L T P p.80
. . . . . . g.12606
CCTCCCACAACCCCTGAGTGGGTCAAGTTCTGCCGTCAGCTTTTCGGGGGGTTCTCCATC c.300
P P T T P E W V K F C R Q L F G G F S I p.100
. . . . . . g.12666
CTGCTGTGGATTGGGGCTATCCTCTGCTTCCTGGCCTACGGCATCCAGGCTGCCATGGAG c.360
L L W I G A I L C F L A Y G I Q A A M E p.120
. . | 05 . . . . g.13252
GATGAACCATCCAACGACAAT | CTATATCTGGGTGTGGTGCTGGCAGCTGTGGTCATTGTC c.420
D E P S N D N | L Y L G V V L A A V V I V p.140
. . . . . . g.13312
ACTGGCTGCTTCTCCTACTACCAGGAGGCCAAGAGCTCCAAGATCATGGATTCCTTCAAG c.480
T G C F S Y Y Q E A K S S K I M D S F K p.160
. | 06 . . . . . g.13611
AACATGGTACCTCAG | CAAGCCCTTGTGATCCGGGAGGGAGAGAAGATGCAGATCAACGCA c.540
N M V P Q | Q A L V I R E G E K M Q I N A p.180
. . . . . . g.13671
GAGGAAGTGGTGGTGGGAGACCTGGTGGAGGTGAAGGGTGGAGACCGCGTCCCTGCTGAC c.600
E E V V V G D L V E V K G G D R V P A D p.200
. . . | 07 . . . g.14436
CTCCGGATCATCTCTTCTCATGGCTGTAAG | GTGGATAACTCATCCTTAACAGGAGAGTCG c.660
L R I I S S H G C K | V D N S S L T G E S p.220
. . . . . . g.14496
GAGCCCCAGACCCGCTCCCCCGAGTTCACCCATGAGAACCCCCTGGAGACCCGCAATATC c.720
E P Q T R S P E F T H E N P L E T R N I p.240
. . | 08 . . . g.16854
TGTTTCTTCTCCACCAACTGTGTTGAAG | GCACTGCCAGGGGCATTGTGATTGCCACAGGA c.780
C F F S T N C V E G | T A R G I V I A T G p.260
. . . . . . g.16914
GACCGGACGGTGATGGGCCGCATAGCTACTCTCGCCTCAGGCCTGGAGGTTGGGCGGACA c.840
D R T V M G R I A T L A S G L E V G R T p.280
. . . . . . g.16974
CCCATAGCAATGGAGATTGAACACTTCATCCAGCTGATCACAGGGGTCGCTGTATTCCTG c.900
P I A M E I E H F I Q L I T G V A V F L p.300
. . . . . . g.17034
GGGGTCTCCTTCTTCGTGCTCTCCCTCATCCTGGGCTACAGCTGGCTGGAGGCAGTCATC c.960
G V S F F V L S L I L G Y S W L E A V I p.320
. . . . . | 09. g.17925
TTCCTCATCGGCATCATAGTGGCCAACGTGCCTGAGGGGCTTCTGGCCACTGTCACT | GTG c.1020
F L I G I I V A N V P E G L L A T V T | V p.340
. . . . . . g.17985
TGCCTGACCCTGACAGCCAAGCGCATGGCACGGAAGAACTGCCTGGTGAAGAACCTGGAG c.1080
C L T L T A K R M A R K N C L V K N L E p.360
. . . . . . g.18045
GCGGTGGAGACGCTGGGCTCCACGTCCACCATCTGCTCGGACAAGACGGGCACCCTCACC c.1140
A V E T L G S T S T I C S D K T G T L T p.380
. . . . . . g.18105
CAGAACCGCATGACCGTCGCCCACATGTGGTTCGACAACCAAATCCATGAGGCTGACACC c.1200
Q N R M T V A H M W F D N Q I H E A D T p.400
. | 10 . . . . . g.18294
ACCGAAGATCAGTCTG | GGGCCACTTTTGACAAACGATCCCCTACGTGGACGGCCCTGTCT c.1260
T E D Q S G | A T F D K R S P T W T A L S p.420
. . . . . . g.18354
CGAATTGCTGGTCTCTGCAACCGCGCCGTCTTCAAGGCAGGACAGGAGAACATCTCCGTG c.1320
R I A G L C N R A V F K A G Q E N I S V p.440
| 11 . . . . . . g.18590
TCTAAG | CGGGACACAGCTGGTGATGCCTCTGAGTCAGCTCTGCTCAAGTGCATTGAGCTC c.1380
S K | R D T A G D A S E S A L L K C I E L p.460
. . . . . . g.18650
TCCTGTGGCTCAGTGAGGAAAATGAGAGACAGAAACCCCAAGGTGGCAGAGATTCCTTTC c.1440
S C G S V R K M R D R N P K V A E I P F p.480
. . | 12 . . . . g.19411
AACTCTACCAACAAGTACCAG | CTGTCTATCCACGAGCGAGAAGACAGCCCCCAGAGCCAC c.1500
N S T N K Y Q | L S I H E R E D S P Q S H p.500
. . . . . . g.19471
GTGCTGGTGATGAAGGGGGCCCCAGAGCGCATTCTGGACCGGTGCTCCACCATCCTGGTG c.1560
V L V M K G A P E R I L D R C S T I L V p.520
. . . . . . g.19531
CAGGGCAAGGAGATCCCGCTCGACAAGGAGATGCAAGATGCCTTTCAAAATGCCTACATG c.1620
Q G K E I P L D K E M Q D A F Q N A Y M p.540
. . . | 13 . . . g.19721
GAGCTGGGGGGACTTGGGGAGCGTGTGCTGG | GATTCTGTCAACTGAATCTGCCATCTGGA c.1680
E L G G L G E R V L G | F C Q L N L P S G p.560
. . . . . . g.19781
AAGTTTCCTCGGGGCTTCAAATTCGACACGGATGAGCTGAACTTTCCCACGGAGAAGCTT c.1740
K F P R G F K F D T D E L N F P T E K L p.580
. . . . . . g.19841
TGCTTTGTGGGGCTCATGTCTATGATTGACCCTCCCCGGGCTGCTGTGCCAGATGCTGTG c.1800
C F V G L M S M I D P P R A A V P D A V p.600
. . | 14. . . . g.23787
GGCAAGTGCCGAAGCGCAGGCATCAAG | GTGATCATGGTAACCGGGGATCACCCTATCACA c.1860
G K C R S A G I K | V I M V T G D H P I T p.620
. . . . . . g.23847
GCCAAGGCCATTGCCAAAGGCGTGGGCATCATATCAGAGGGTAACGAGACTGTGGAGGAC c.1920
A K A I A K G V G I I S E G N E T V E D p.640
. . . . | 15 . . g.24431
ATTGCAGCCCGGCTCAACATTCCCATGAGTCAAGTCAACCCCAG | AGAAGCCAAGGCATGC c.1980
I A A R L N I P M S Q V N P R | E A K A C p.660
. . . . . . g.24491
GTGGTGCACGGCTCTGACCTGAAGGACATGACATCGGAGCAGCTCGATGAGATCCTCAAG c.2040
V V H G S D L K D M T S E Q L D E I L K p.680
. . . . . . g.24551
AACCACACAGAGATCGTCTTTGCTCGAACGTCTCCCCAGCAGAAGCTCATCATTGTGGAG c.2100
N H T E I V F A R T S P Q Q K L I I V E p.700
. | 16 . . . . . g.24749
GGATGTCAGAGGCAG | GGAGCCATTGTGGCCGTGACGGGTGACGGGGTGAACGACTCCCCT c.2160
G C Q R Q | G A I V A V T G D G V N D S P p.720
. . . . . . g.24809
GCATTGAAGAAGGCTGACATTGGCATTGCCATGGGCATCTCTGGCTCTGACGTCTCTAAG c.2220
A L K K A D I G I A M G I S G S D V S K p.740
. . . . . . g.24869
CAGGCAGCCGACATGATCCTGCTGGATGACAACTTTGCCTCCATCGTCACGGGGGTGGAG c.2280
Q A A D M I L L D D N F A S I V T G V E p.760
| 17 . . . . . . g.25165
GAGG | GCCGCCTGATCTTTGACAACTTGAAGAAATCCATCGCCTACACCCTGACCAGCAAC c.2340
E G | R L I F D N L K K S I A Y T L T S N p.780
. . . . . . g.25225
ATCCCCGAGATCACCCCCTTCCTGCTGTTCATCATTGCCAACATCCCCCTACCTCTGGGC c.2400
I P E I T P F L L F I I A N I P L P L G p.800
. . . | 18 . . g.25538
ACTGTGACCATCCTTTGCATTGACCTGGGCACAGATATG | GTCCCTGCCATCTCCTTGGCC c.2460
T V T I L C I D L G T D M | V P A I S L A p.820
. . . . . . g.25598
TATGAGGCAGCTGAGAGTGATATCATGAAGCGGCAGCCACGAAACTCCCAGACGGACAAG c.2520
Y E A A E S D I M K R Q P R N S Q T D K p.840
. . . . | 19 . . g.25857
CTGGTGAATGAGAGGCTCATCAGCATGGCCTACGGACAGATCG | GGATGATCCAGGCACTG c.2580
L V N E R L I S M A Y G Q I G | M I Q A L p.860
. . . . . . g.25917
GGTGGCTTCTTCACCTACTTTGTGATCCTGGCAGAGAACGGTTTCCTGCCATCACGGCTA c.2640
G G F F T Y F V I L A E N G F L P S R L p.880
. . . . . . g.25977
CTGGGAATCCGCCTCGACTGGGATGACCGGACCATGAATGATCTGGAGGACAGCTATGGA c.2700
L G I R L D W D D R T M N D L E D S Y G p.900
| 20 . . . . . g.26222
CAGGAGTGG | ACCTATGAGCAGCGGAAGGTGGTGGAGTTCACGTGCCACACGGCATTCTTT c.2760
Q E W | T Y E Q R K V V E F T C H T A F F p.920
. . . . . . g.26282
GCCAGCATCGTGGTGGTGCAGTGGGCTGACCTCATCATCTGCAAGACCCGCCGCAACTCA c.2820
A S I V V V Q W A D L I I C K T R R N S p.940
. . | 21 . . . . g.28950
GTCTTCCAGCAGGGCATGAA | GAACAAGATCCTGATTTTTGGGCTCCTGGAGGAGACGGCG c.2880
V F Q Q G M K | N K I L I F G L L E E T A p.960
. . . . . . g.29010
TTGGCTGCCTTTCTCTCTTACTGCCCAGGCATGGGTGTAGCCCTCCGCATGTACCCGCTC c.2940
L A A F L S Y C P G M G V A L R M Y P L p.980
| 22 . . . . . . g.29221
AA | AGTCACCTGGTGGTTCTGCGCCTTCCCCTACAGCCTCCTCATCTTCATCTATGATGAG c.3000
K | V T W W F C A F P Y S L L I F I Y D E p.1000
. . . | 23 . . . g.30590
GTCCGAAAGCTCATCCTGCGGCGGTATCCTGGTG | GCTGGGTGGAGAAGGAGACATACTAC c.3060
V R K L I L R R Y P G G | W V E K E T Y Y p.1020
g.30593
TGA c.3063
X p.1020
. . . . . . g.30653
ccccattggaagaagaaccaggcatggaaagatggggagctctggaggtgttgtggggat c.*60
. . . . . . g.30713
ggtgatggagagggatggaaataacgggtggcattgggtggcaacatttggggagagata c.*120
. . . . . . g.30773
atgaggcaactcagcaggctaagttgcggggtatataaattggggtgatgaccccataga c.*180
. . . . . . g.30833
cctaactgtgaacaatcagattagacactatgtgttagagtccccccgaccagatccttt c.*240
. . . . . . g.30893
tccatcccactccactatgttgtctattttttctgaggaattaagggttaccccaccctg c.*300
. . . . . . g.30953
cccactcccatcccttcaaccccacttcctactgtaatagatcagcatccaaaagcagga c.*360
. . . . . . g.31013
acccatctaaaccagaaggaagccctctcagatcaccccagcctcactccatttcccact c.*420
. . . . . . g.31073
tccacccccgttagcttcctgcaggactctatccctggcttccccttcagaccttgcaat c.*480
. . . . . . g.31133
cacaaaaggttcttctggtgagtgcaagagcctgagactggaaaaggtggacttgtctcc c.*540
. . . . . . g.31193
cagtcgaggctggtaagggaccttcagggagagctgggcagacaggtgggagatggaggt c.*600
. . . . . . g.31253
agggctggctggaggaaggaaacaacaaaggaagtgaggtagtgccaatgacaggacatt c.*660
. . . . . . g.31313
tgacatgagtctccagatagatgtcgtggactccagctctacgtcccacattttagaata c.*720
. . . . . . g.31373
ccccaccagcagaacaaactcagatctcatcagggtagcagcagaggcaggaccagaagg c.*780
. . . . . . g.31433
caatcaagagcttccagaaatgccacacttgtgtgccacagagttccccgctgacccttg c.*840
. . . . . . g.31493
gttaggggtcctcttagtccacaaggtccggatgtcactcatgtacttaataacacttca c.*900
. . . . . . g.31553
ccttctgtaatactaagtcctcagagctccatgctgttctgaaagggatggccacaagtt c.*960
. . . . . . g.31613
ctttcccagcctcttccattccctttcttttcatgcccatcccgatgaacctgcatcatt c.*1020
. . . . . . g.31673
ccccgacactgccaagccaaccctggaaaaggagttcgctggccattggctagaatcagg c.*1080
. . . . . . g.31733
gtggagaagttccctgaaccttcctgtctcccagggacatgtatgcttccagggacaagc c.*1140
. . . . . . g.31793
ttaggtcatgaacatggtcagaacctttggacaagaggaaaaatactaagagatttgctt c.*1200
. . . . . . g.31853
tttctgggtgcggtggctcatgcctgtaatcccagcactttgggaggccgaggcaggtgg c.*1260
. . . . . . g.31913
atcatgaggtcaggagttcgaggcgagcctggccaacatggtgaaaccctgtctctacta c.*1320
. . . . . . g.31973
aaagtacaaaaaattagccagtcatggtggcacacgcctgtaatctcagctactcaggag c.*1380
. . . . . . g.32033
gctgaggcaggagaattgcttgaacctgtgaggaagaggttgcagtgagctgagatcgtg c.*1440
. . . . . . g.32093
ccattacactccagcctgggcgaaagggtgagactccatctcaaaaaaaaaaaaaatgat c.*1500
. . . . . . g.32153
ttgcttttgacgtcttaggtggcagggctgttccctccaggcaaatgcccttcaaaccga c.*1560
. . . . . . g.32213
cgatcattgtgcccacttaccctgggctggagagttggtttcaggttcctacaggagata c.*1620
. . . . . . g.32273
gctttctttcccttactccctatctaacacttttgctctgcaggcagccttgcccattct c.*1680
. . . . . . g.32333
ctaagcctggcttagaaggcactgggaatgtcctgtagagagagacctagataggtcatg c.*1740
. . . . . . g.32393
caagtgagaaagacatctgaggaaaatggaagacctaaggcagacaggaaggaagcacaa c.*1800
. . . . . . g.32453
aagacaagcattgggtcagacccataaaccacctcccaaaggctgtcatttcattgcact c.*1860
. . . . . . g.32513
ggaattttgctttatcagaagcaaggaagtaagggagtcattgccttgggcctgggaatc c.*1920
. . . . . . g.32573
taagtgggagacaatattaatttggatccgattaattggagattactaactgtggacaaa c.*1980
. . . . . . g.32633
agtttatctttgcacaatcaataaaaatggcatttttttagtaaattaagagcataaaca c.*2040
. . . . . . g.32693
atattgctagaggtggcatgtttagtctaccaaaaacaatacttttcaggcactttagaa c.*2100
. . . . . . g.32753
atatccttttagaagcagcgagtgcatgggctaattatcatcaatctttatgtatttgtt c.*2160
. . . . . . g.32813
aaagaaacatctacaggatctttattggtgaccttttgtaagacattagtttgaggtact c.*2220
. . . . g.32862
acctatgtacttgaaaataataaagtggcatttctttatgaaaaaaaaa c.*2269
(downstream sequence)
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