(used for variant description)
(last modified January 27, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_000891.2 in the KCNJ2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008798.1, covering KCNJ2 transcript NM_000891.2.
(upstream sequence)
. . g.5023
gcgcactggagccctggccagcg c.-361
. . . . . . g.5083
cgcagccttcccggcgccggcgggctgggtcttgggaattctggtttgctttggctcact c.-301
. . . . . . g.5143
cgctttttacaaaccactggatcttacatgcctctgtaccccccacttccactccatgtc c.-241
. . . | 02 . . . g.10325
cccatgctcctgcgccagcaacag | gacatgttctctggatgtcagctgagtcattaaagt c.-181
. . . . . . g.10385
aactctgcatgtcagtagacagaccttggtagaaccacaaggctcccagagacacccatc c.-121
. . . . . . g.10445
tctcctcatttttttggtgtgtgtgtcttcaccgaacattcaaaactgtttctccaaagc c.-61
. . . . . . g.10505
gttttgcaaaaactcagactgttttccaaagcagaagcactggagtccccagcagaagcg c.-1
. . . . . . g.10565
ATGGGCAGTGTGCGAACCAACCGCTACAGCATCGTCTCTTCAGAAGAAGACGGTATGAAG c.60
M G S V R T N R Y S I V S S E E D G M K p.20
. . . . . . g.10625
TTGGCCACCATGGCAGTTGCAAATGGCTTTGGGAACGGGAAGAGTAAAGTCCACACCCGA c.120
L A T M A V A N G F G N G K S K V H T R p.40
. . . . . . g.10685
CAACAGTGCAGGAGCCGCTTTGTGAAGAAAGATGGCCACTGTAATGTTCAGTTCATCAAT c.180
Q Q C R S R F V K K D G H C N V Q F I N p.60
. . . . . . g.10745
GTGGGTGAGAAGGGGCAACGGTACCTCGCAGACATCTTCACCACGTGTGTGGACATTCGC c.240
V G E K G Q R Y L A D I F T T C V D I R p.80
. . . . . . g.10805
TGGCGGTGGATGCTGGTTATCTTCTGCCTGGCTTTCGTCCTGTCATGGCTGTTTTTTGGC c.300
W R W M L V I F C L A F V L S W L F F G p.100
. . . . . . g.10865
TGTGTGTTTTGGTTGATAGCTCTGCTCCATGGGGACCTGGATGCATCCAAAGAGGGCAAA c.360
C V F W L I A L L H G D L D A S K E G K p.120
. . . . . . g.10925
GCTTGTGTGTCCGAGGTCAACAGCTTCACGGCTGCCTTCCTCTTCTCCATTGAGACCCAG c.420
A C V S E V N S F T A A F L F S I E T Q p.140
. . . . . . g.10985
ACAACCATAGGCTATGGTTTCAGATGTGTCACGGATGAATGCCCAATTGCTGTTTTCATG c.480
T T I G Y G F R C V T D E C P I A V F M p.160
. . . . . . g.11045
GTGGTGTTCCAGTCAATCGTGGGCTGCATCATCGATGCTTTCATCATTGGCGCAGTCATG c.540
V V F Q S I V G C I I D A F I I G A V M p.180
. . . . . . g.11105
GCCAAGATGGCAAAGCCAAAGAAGAGAAACGAGACTCTTGTCTTCAGTCACAATGCCGTG c.600
A K M A K P K K R N E T L V F S H N A V p.200
. . . . . . g.11165
ATTGCCATGAGAGACGGCAAGCTGTGTTTGATGTGGCGAGTGGGCAATCTTCGGAAAAGC c.660
I A M R D G K L C L M W R V G N L R K S p.220
. . . . . . g.11225
CACTTGGTGGAAGCTCATGTTCGAGCACAGCTCCTCAAATCCAGAATTACTTCTGAAGGG c.720
H L V E A H V R A Q L L K S R I T S E G p.240
. . . . . . g.11285
GAGTATATCCCTCTGGATCAAATAGACATCAATGTTGGGTTTGACAGTGGAATCGATCGT c.780
E Y I P L D Q I D I N V G F D S G I D R p.260
. . . . . . g.11345
ATATTTCTGGTGTCCCCAATCACTATAGTCCATGAAATAGATGAAGACAGTCCTTTATAT c.840
I F L V S P I T I V H E I D E D S P L Y p.280
. . . . . . g.11405
GATTTGAGTAAACAGGACATTGACAACGCAGACTTTGAAATCGTGGTCATACTGGAAGGC c.900
D L S K Q D I D N A D F E I V V I L E G p.300
. . . . . . g.11465
ATGGTGGAAGCCACTGCCATGACGACACAGTGCCGTAGCTCTTATCTAGCAAATGAAATC c.960
M V E A T A M T T Q C R S S Y L A N E I p.320
. . . . . . g.11525
CTGTGGGGCCACCGCTATGAGCCTGTGCTCTTTGAAGAGAAGCACTACTACAAAGTGGAC c.1020
L W G H R Y E P V L F E E K H Y Y K V D p.340
. . . . . . g.11585
TATTCCAGGTTCCACAAAACTTACGAAGTCCCCAACACTCCCCTTTGTAGTGCCAGAGAC c.1080
Y S R F H K T Y E V P N T P L C S A R D p.360
. . . . . . g.11645
TTAGCAGAAAAGAAATATATCCTCTCAAATGCAAATTCATTTTGCTATGAAAATGAAGTT c.1140
L A E K K Y I L S N A N S F C Y E N E V p.380
. . . . . . g.11705
GCCCTCACAAGCAAAGAGGAAGACGACAGTGAAAATGGAGTTCCAGAAAGCACTAGTACG c.1200
A L T S K E E D D S E N G V P E S T S T p.400
. . . . . . g.11765
GACACGCCCCCTGACATAGACCTTCACAACCAGGCAAGTGTACCTCTAGAGCCCAGGCCC c.1260
D T P P D I D L H N Q A S V P L E P R P p.420
. . g.11789
TTACGGCGAGAGTCGGAGATATGA c.1284
L R R E S E I X p.427
. . . . . . g.11849
ctgactgattccttctctggaatagttactttacaacacggtctgttggtcagaggccca c.*60
. . . . . . g.11909
aaacagttatacagatgacggtactggtcaagatgggtcaagcaagcggccacaagggac c.*120
. . . . . . g.11969
tgaggcaagcacaatggtttcaaagaaagactgtaagctccatgattagcataaagcact c.*180
. . . . . . g.12029
aaccatgtctccatgtgacccgatggcacatagatgttgtagaataagttatgggttttt c.*240
. . . . . . g.12089
atgttttgttttgtgtttttccaaaacttgaacttgcaggcaagccttggttgggtattt c.*300
. . . . . . g.12149
gatttatccagaatgcttctctttagggaacaaggatgtttttaatggcataacaaaggc c.*360
. . . . . . g.12209
aagactctgccttaatttttgaaaagctgctaactacatgaacacaaatgtgtatttttg c.*420
. . . . . . g.12269
ttgcagtgtagttttccttttgtgtaattttaaagtcagtgttgaattttattgaaagct c.*480
. . . . . . g.12329
catgatgcgcttcaaagtggcaagtatttggctattaactgccaaaacaagagcctgatt c.*540
. . . . . . g.12389
ttttgaggccagtaattcgtttgctagaattgattttttttctctctctctttgttacat c.*600
. . . . . . g.12449
aagggcattatgtaacactagccgaatggtagcctctgggttgttgtttttttcttttcc c.*660
. . . . . . g.12509
tccatgatgttaatgggttatctcaaattttaagttaaactacctaaaataaataccaaa c.*720
. . . . . . g.12569
gataatgcatatttttgcacagtggagcttacacttaaaagaaaacaaagccccatgggc c.*780
. . . . . . g.12629
tgccttgaaatcaagagacaataactttgaacctcagcaagaccttgaaccgccggttca c.*840
. . . . . . g.12689
ttttgcaccttattcagaaaatagagcatcatactcaccgagtctagtcagtgtagtgct c.*900
. . . . . . g.12749
tttaaaaattttgtcctttcatgtaacttttttattttaagaggaagaagaagaaagggg c.*960
. . . . . . g.12809
cacacacacacaataccgacgtctatcctttcctgctaggcagtgctggccaggctcatg c.*1020
. . . . . . g.12869
tgtagtgtgcgagatggtgatgtactcttatatttttctgggcttttccttttgcacatt c.*1080
. . . . . . g.12929
ccaaaattcatttcataagacaagatcttcataggacctccttggcatcctggcattctc c.*1140
. . . . . . g.12989
aaaactgagccatccagcatgaaagataaatgggtttaaacccttgctgctgaatttatt c.*1200
. . . . . . g.13049
gcctggactgtcaggacatcaccagcccaccttcaccttagggaagatgccacacctggc c.*1260
. . . . . . g.13109
ctccacacttgctcttctgatcagtctgtctggattgagtcctacagtgtcagatagggc c.*1320
. . . . . . g.13169
ggcaaatgccaaagcagggaaacagggaggtgtggacaagccagtttgatgcagcacttc c.*1380
. . . . . . g.13229
agatcaagtgcttaggaaggagaggaaacttgccttttttatggcagaggatagtaatga c.*1440
. . . . . . g.13289
aaatgtctcagtattttagggtcaatgagagccataaaaatataacataatcacaagtaa c.*1500
. . . . . . g.13349
aggagataatggtctaaaacagctatttcccttttctgtgtgcatacttatgactgaatg c.*1560
. . . . . . g.13409
tgagctaagcattttctcctgtggagccctagagcaggttactaaggaaggacacattgt c.*1620
. . . . . . g.13469
tttccagaagcctcccctgcctggctgactgccttgctagaaacataattttttttttct c.*1680
. . . . . . g.13529
cactgaagctcaataatggaactctttttttttttttttttaatttaaagttccctattt c.*1740
. . . . . . g.13589
gtgaattctgggattactgacttttctttttaattggagtctcaaaatcaactctcttat c.*1800
. . . . . . g.13649
ggtattatatctctgtatgccattaaaaaacagcttgttctagaatcatgtattttgtaa c.*1860
. . . . . . g.13709
actgatgtttgtgatggtctctggttcttgaacagccatatctgaatgccgtgcctgcaa c.*1920
. . . . . . g.13769
aactatgacaatttttgctgttttcagccttcagatttgatggcttgggaaactgaggtg c.*1980
. . . . . . g.13829
ttattttcaatgaaacaaagaaagagatgttaagcaagtggttgttttagatccaaatgt c.*2040
. . . . . . g.13889
aaaggcaggtttgggaaggtgtttaaagagttggaggaattggggattgagttgtaaaga c.*2100
. . . . . . g.13949
aaacttacagaagaggcaacaatttggttcttgacagtgagaggatattgagggcttcag c.*2160
. . . . . . g.14009
ctgctgctattatgatgttttgcaaaggaaaataatcaaaccaaagagtattcagtgata c.*2220
. . . . . . g.14069
tgtaaattaaatgaagatacagtggagaatgggggtgaccacaaaagaggctccccctaa c.*2280
. . . . . . g.14129
acacacagtgctgccacttaaaaagacttgagaaatttgaaagggggtgggtatgggggg c.*2340
. . . . . . g.14189
ggcaagaaagagggagggaaatctttcaacttatttctgaaaaagagaaaaaaatataaa c.*2400
. . . . . . g.14249
atttctggtgcacaggtttgttttttcaagaaaattttgcagaagctatgtttttaaagt c.*2460
. . . . . . g.14309
gtacattttataaagtttatcagatattttcatatttaaagccaaatgtaaatagaggtc c.*2520
. . . . . . g.14369
tgtaaagaaaaataattgccatagaaagtataatttcagtgcagtaatttctgagagcta c.*2580
. . . . . . g.14429
gtacctatatgctaccggttagcatggttttagcaaatatataccagccttataaggttc c.*2640
. . . . . . g.14489
gtattgctatgttcttctgttatttatttcagcatggactgttcatttgaaacctttttc c.*2700
. . . . . . g.14549
tagttattagcgttttaacagttacaagctttaaatggcaattttttttttttttttttt c.*2760
. . . . . . g.14609
tttttttttttttttgtcaagagccaagacacaggtaatgcacgacattgattgctgcat c.*2820
. . . . . . g.14669
tttaccttcaaaatatttgtccttattgactgggtctccttaattaatgtacacatgtca c.*2880
. . . . . . g.14729
ttagaatgcagacggaggggactcaccatgaatatctggggttgattcccagatgtgtgt c.*2940
. . . . . . g.14789
tgcttctctattgcaagcagattccctgttggatttacttcggatttattcccttttaaa c.*3000
. . . . . . g.14849
gaatttttgcccatatctggaagggcactatatttttgggaggagccatagattcctggt c.*3060
. . . . . . g.14909
tatcctatttttaaacaaaatgtagacaaagtgaactctattttgattattgagaaagga c.*3120
. . . . . . g.14969
gtagttttctatccctctaagagtatacttgaatcagacattttaaggatgtcactatgg c.*3180
. . . . . . g.15029
cactgttgtcatttccaaattcctagaaaagtttgttttactttgtttttattctgttaa c.*3240
. . . . . . g.15089
tgcattctttcttctctttacttcctttcttaccagtacactcctatctcaactctgttt c.*3300
. . . . . . g.15149
atttgatgagttctgtcccgtaaatcatatttcccttacaattaataaatgtcacttcat c.*3360
. . . . . . g.15209
attttataataaaccactcagtaaaagcaaaagcttgtcctgagaagtagagtgagttct c.*3420
. . . . . . g.15269
ttttcactctgtgtctaataatgttaaggtgggaaaaaaaaaagtgtggcatagctacct c.*3480
. . . . . . g.15329
gcccatccccaaccctcagcaaagtagaatctcttttctggtaattttgggtttccgctc c.*3540
. . . . . . g.15389
tgggctctggcaagttgaacaatcctagccattgacaatcgtgatagttattattttccc c.*3600
. . . . . . g.15449
atttgctgtctttttgtatctaaagtcttcctattgtactgcacaaaccatggattgtac c.*3660
. . . . . . g.15509
atatttttatatattatgtcttattttattatttctaaataaaaaaattaaaaattgaaa c.*3720
g.15510
a c.*3721
(downstream sequence)
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