(used for variant description)
(last modified January 21, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_000294.2 in the PHKG2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_016616.1, covering PHKG2 transcript NM_000294.2.
(upstream sequence)
. . . g.5030
aattgggcggccggtttccaattggaaggg c.-181
. . . . . . g.5090
cttctgagcctcagtcttcgggcggcgctgaccattggcgggcaggatggaggcggagcc c.-121
. . . . . . g.5150
ttgggttgtcgcccgccgccgggggttaaggtgagcgactgcaggcaaacccggcgacag c.-61
. . . . . | 02 . g.5522
cgcagctcgcgtcgaccctggctcctctgcctgccccctcag | gcccccgcctccttcagg c.-1
. . . . . . g.5582
ATGACGCTGGACGTGGGGCCGGAGGATGAGCTGCCCGACTGGGCCGCCGCCAAAGAGTTT c.60
M T L D V G P E D E L P D W A A A K E F p.20
. . . | 03 . . . g.7832
TACCAGAAGTACGACCCTAAGGACGTCATCGGCAG | AGGAGTGAGCTCTGTGGTCCGCCGT c.120
Y Q K Y D P K D V I G R | G V S S V V R R p.40
. . . . . . g.7892
TGTGTTCATCGAGCTACTGGCCACGAGTTTGCGGTGAAGATTATGGAAGTGACAGCTGAG c.180
C V H R A T G H E F A V K I M E V T A E p.60
. . . . . . g.7952
CGGCTGAGTCCTGAGCAGCTGGAGGAGGTGCGGGAAGCCACACGGCGAGAGACACACATC c.240
R L S P E Q L E E V R E A T R R E T H I p.80
. . . | 04 . . . g.8279
CTTCGCCAGGTCGCCGGCCACCCCCACATCA | TCACCCTCATCGATTCCTACGAGTCTTCT c.300
L R Q V A G H P H I I | T L I D S Y E S S p.100
. . | 05 . . . . g.9967
AGCTTCATGTTCCTGGTGTTTGACCT | GATGCGGAAGGGAGAGCTGTTTGACTATCTCACA c.360
S F M F L V F D L | M R K G E L F D Y L T p.120
. . . | 06 . . . g.10123
GAGAAGGTGGCCCTCTCTGAAAAGGAAACCAG | GTCCATCATGCGGTCTCTGCTGGAAGCA c.420
E K V A L S E K E T R | S I M R S L L E A p.140
. . . . . . g.10183
GTGAGCTTTCTCCATGCCAACAACATTGTGCATCGAGATCTGAAGCCCGAGAATATTCTC c.480
V S F L H A N N I V H R D L K P E N I L p.160
. . . . . . g.10243
CTAGATGACAATATGCAGATCCGACTTTCAGATTTCGGGTTCTCCTGCCACTTGGAACCT c.540
L D D N M Q I R L S D F G F S C H L E P p.180
. | 07 . . . . . g.12927
GGCGAGAAGCTTCGAG | AGTTGTGTGGGACCCCAGGGTATCTAGCGCCAGAGATCCTTAAA c.600
G E K L R E | L C G T P G Y L A P E I L K p.200
. . . . | 08. . g.13081
TGCTCCATGGATGAAACCCACCCAGGCTATGGCAAGGAGGTCGACCT | CTGGGCCTGTGGG c.660
C S M D E T H P G Y G K E V D L | W A C G p.220
. . . . . . g.13141
GTGATCTTGTTCACACTCCTGGCTGGCTCGCCACCCTTCTGGCACCGGCGGCAGATCCTG c.720
V I L F T L L A G S P P F W H R R Q I L p.240
. . . . . . g.13201
ATGTTACGCATGATCATGGAGGGCCAGTACCAGTTCAGTTCCCCCGAGTGGGATGACCGT c.780
M L R M I M E G Q Y Q F S S P E W D D R p.260
. . | 09 . . . . g.13330
TCCAGCACTGTCAAAGACCTG | ATCTCCAGGCTGCTGCAGGTGGATCCTGAGGCACGCCTG c.840
S S T V K D L | I S R L L Q V D P E A R L p.280
. . . . . . g.13390
ACAGCTGAGCAGGCCCTACAGCACCCCTTCTTTGAGCGTTGTGAAGGCAGCCAACCCTGG c.900
T A E Q A L Q H P F F E R C E G S Q P W p.300
. . | 10. . . . g.13538
AACCTCACCCCCCGCCAGCGGTTCCGG | GTGGCAGTGTGGACAGTGCTGGCTGCTGGACGA c.960
N L T P R Q R F R | V A V W T V L A A G R p.320
. . . . . . g.13598
GTGGCCCTAAGCACCCATCGTGTACGGCCACTGACCAAGAATGCACTGTTGAGGGACCCT c.1020
V A L S T H R V R P L T K N A L L R D P p.340
. . . . . . g.13658
TATGCGCTGCGGTCAGTGCGGCACCTCATCGACAACTGTGCCTTCCGGCTCTACGGGCAC c.1080
Y A L R S V R H L I D N C A F R L Y G H p.360
. . . . . . g.13718
TGGGTAAAGAAAGGGGAGCAGCAGAACCGGGCGGCTCTCTTTCAGCACCGGCCCCCTGGG c.1140
W V K K G E Q Q N R A A L F Q H R P P G p.380
. . . . . . g.13778
CCTTTTCCCATCATGGGCCCTGAAGAGGAGGGAGACTCTGCTGCTATAACTGAGGATGAG c.1200
P F P I M G P E E E G D S A A I T E D E p.400
. . g.13799
GCCGTGCTTGTGCTGGGCTAG c.1221
A V L V L G X p.406
. . . . . . g.13859
gacctcaaccccagggattcccaggaagcagaactctccagaagaagggttttgatcatt c.*60
. . . . . . g.13919
ccagctcctctgggctctggcctcaggcccactaatgatcctgctaccctcttgaagacc c.*120
. . . . . . g.13979
agcccggtacctctctccccactggccaggactctgagatcagagctggggtggaaggga c.*180
. . . . . . g.14039
gccattctgaacgccacgcctggcccggtcagtgctgcatgcactgcatatgaaataaaa c.*240
. . . . . . g.14099
tctgctacacgccagggagaacaggtgtcctgtgtctgtctggcttgggcaggaaagccc c.*300
. . . . . . g.14159
agaaggtgctcagcagggtgcagggatggtgccattctggcccagacctttattggggaa c.*360
. . . . . . g.14219
aatgttgggggtcacttggtcttgctcttgcctttacccggaggtagctggaagggccgc c.*420
. . . . . . g.14279
tctagtgcagtcaacttgctgctgagcctttcctcgctggccttgagccgctcctccacc c.*480
. . . . . . g.14339
agcccctggagctgctccagctctttgttcacttgggtcttgatgtaggctcggaggacg c.*540
. . . . . . g.14399
tggatgtggcctgcaggggcagggaagaaggggcagggtgaggagagatgctgtctggca c.*600
. . . . . . g.14459
atggggggatggtccctagttgggcaaacagtccccaaatttcccctggtggggatatag c.*660
. . . . . . g.14519
aggtagcaatgttgtttccctttaggaaatgttagcaagcccttgtgtgagaggtagttg c.*720
. . . . . . g.14579
ggtagggtggctatgctggactttgcagcttcaaattctgatccctactcagtagctgtg c.*780
. . . . . . g.14639
tgaccttaggcaggttatttaacctatctgtgcctcagtttccttgtatgaaatgtggat c.*840
. . . . . . g.14699
agtgatacctagcacataggattgagggaggattaaatgagttaatttatgtaaaatgct c.*900
. . . . . . g.14759
tagagcagggcatgcactgcacacctattgccaagtatgtgctggctgttattgtcattg c.*960
. . . . . . g.14819
gctttctctttttttttttttttttgagatggagtcttgctttatcccccaggctggagt c.*1020
. . . . . . g.14879
gcagtggcagcgatctcagctcactgcaagctctgcctcccaggttcatgccattctcct c.*1080
. . . . . . g.14939
gcctcagcctcccagtagctgggactacaggcacccgccaccacgcccggctaacttttt c.*1140
. . . . . . g.14999
gtatttttagtagagacggggtttcacagtgttagccaggatggactcgatctcctgacc c.*1200
. . . . . . g.15059
tcgtgatccgcctgcctcagcctcccaaagtgctgggattacagttgtgagccactgcac c.*1260
. . . . . . g.15119
ctggcctgttctttgtttttttttaactcttaagttctgggatacgagcagaacatgcag c.*1320
. . . . . . g.15179
gtttgctacgtaggtatacatgggccatggtggtttgctttacccatcaacccatcatat c.*1380
. . . . . . g.15239
aggttttaagccaccgtcattggctttctaatgatcatttctctggagccacttcagctg c.*1440
. . . . . . g.15299
tgctttttgtttgtttgtttgtttgttttgagacagagtcttgctctgttgcccaggctg c.*1500
. . . . . . g.15359
gagtgcagtggccagatcttggctcactgcagtctccacctcctgggttcatgcagttct c.*1560
. . . . . . g.15419
cctgcctcagcctcctgagtagctgggactacaagcgcgcaccaccatgcctggctattt c.*1620
. . . . . . g.15479
tttgtattttagtagatagggggtttcacggtgttgcccaggctggtcgcgaactcctga c.*1680
. . . . . . g.15539
gctcaggcaatccgcctgcctcagattgtgctgggattacaggtgtgagccaccacgcct c.*1740
. . . . . . g.15599
ggcctgcagctgtgcttttatctgtcatcttggacttctgcataagggatcatttagaga c.*1800
. . . . . . g.15659
aaggactctgactaaaaacaaaaagtctgaagtcctgatgtcatccaaacccttcattct c.*1860
. . . . . . g.15719
acacctgctcagagggacagggcagcctgccctctccagatcctcacttggctctggctc c.*1920
. . . . . . g.15779
tggtggggccactgtctctagttcctctttctgcggggtaactgcctgctcctccatctc c.*1980
. . . . . . g.15839
cttgctttcttctttctctgcaaaccagaagcaggaagagactgtggccccaggcctggc c.*2040
. . . . . . g.15899
ccagcccagccctgccctggcactctcccttacccgtctcactctctggccacagtttgg c.*2100
. . . . . . g.15959
gtggctgtagccccatgtaagtcaaagacagatccagccgcacctgggaagcaaggcaga c.*2160
. . . . . . g.16019
gggaggctgaaaggagtgcacctgtgctgaggggaggggcggttgagggtggctcctcat c.*2220
. . . . . . g.16079
ggtccaccaccccctacctggggtgtgaagacgtatttatagagcttgaagtggcggaag c.*2280
. . . . . . g.16139
taagtgttgaccacgtagtcttccaaggccagcagctgttcctctttgaagaggtcgatg c.*2340
. . . . . . g.16199
ctgaaaggaggccgctgtggtggtgactcggaattagaaccctgactaccttccggagcc c.*2400
. . . . . . g.16259
ctggctttgcctccaaaagcccagcaacaggagcaaggagagcccactggggtcttcaca c.*2460
. . . . . . g.16319
agaagataagggtgatgaatgtgagagagactgggtgagaccttgtctggggatgggtaa c.*2520
. . . . . . g.16379
agtttccagaatgttccaggggaactgaccctgactccatggcaaaaaaggacactggtg c.*2580
. . . . . . g.16439
aagtagcggtagcactcctccacgttgcccaagggggttgctggtagggaaagcaagatg c.*2640
. . . . . . g.16499
cagcagtgaggccctctctggtatccattcattcacttcactcaacagctgtttatgacc c.*2700
. . . . . . g.16559
atgagcttcagaagcagacagatctgggtttcagcactggcttgtttccttaactcatgt c.*2760
. . . . . . g.16619
aacaaatactgaatacccactatatgcccactgtatggttttcggcactgaacaagacag c.*2820
. . . . . . g.16679
acaaggtcctgcccttacgaagcttatattctaggggaataaaccaagaaatagatcatt c.*2880
. . . . . . g.16739
tcagctattaaacattctgaagcaagagctattaaacattctaaagcaggtgttattgtg c.*2940
. . . . . . g.16799
cactatgcatatatttgcatatattatttctcagaacagtcctgtaaaatgtgtgctgta c.*3000
. . . . . . g.16859
tccttaatttctagataaggaagcagtggattggaaagctgatggcttgtgtatgatgat c.*3060
. . . . . . g.16919
gctactaataatgacatattccaggcagaaatcccctgcttctgcttcccatggtcactt c.*3120
. . . . . . g.16979
gtgccaggcccggttcctcttctccctggggctcaaacctggtagctgccccctctcacc c.*3180
. . . . . . g.17039
aatacaagccttgtgaagatcctggagcagggcacaagccgctgacgtctgctccagtga c.*3240
. . . . . . g.17099
gaagccctgctggcggcagaaaatgagcgcgtggcagaagaggtccagggtgatggcgtc c.*3300
. . . . . . g.17159
cctcaggctctgctcaggacaccctagctccagcagctcagccagcacccttgggaggga c.*3360
. . . . . . g.17219
gagaggagtgagtgacaactgggcctcctttcatcaccctacacccaccacatgctttgg c.*3420
. . . . . . g.17279
agtcagccattcctcatgttttcccaacctgacccctcagcctttgccaagagctcttcc c.*3480
. . . . . . g.17339
cacgcccccctcagtccctactccctcatctcagcattggtggtcttctccagctggtgc c.*3540
. . . . . . g.17399
atggaatggacgtccaggtacttcctgttatagtaaaagaaaaagagtattggtggccgt c.*3600
. . . . . . g.17459
tacctatcatgacaaggctgtgacagctagtgcgtgagactgggagttggccaccggcgt c.*3660
. . . . . . g.17519
gaagctgggctcttttgccagcttgctgtgtgactatgcaaatcgttaactctctgggcc c.*3720
. . . . . . g.17579
taaatgaactcttatgagcctctccatttctaaagcctagggttaggaatcttgaattct c.*3780
. . . . . . g.17639
tttttctgctctgccactaccttgtatgaccttggtcaagtactccctgtggccctcagt c.*3840
. . . . . . g.17699
gtccccctctgtacaatactccttagcggccatgagactccatttacattctgtctttgg c.*3900
. . . . . . g.17759
ctctttttttctcacactgcctcctctttggactggagaggctggaaagccaacttccag c.*3960
. . . . . . g.17819
tcacctggagtaattgcatctccaggcctcagtctcatctgtaaaatggggatgccctgg c.*4020
. . . . . g.17871
ccacagacaggactgttggggagacaataaagaacgcaaatattcagtgtaa c.*4072
(downstream sequence)
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