(used for variant description)
(last modified February 3, 2021)
This file was created to facilitate the description of sequence variants on transcript NM_000292.2 in the PHKA2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_016622.1, covering PHKA2 transcript NM_000292.2.
(upstream sequence)
. g.5010
ggcctgggcg c.-421
. . . . . . g.5070
atctccccggcggctggggtgggctggcgtcttcttcgcgcccgggggacctcctcgcga c.-361
. . . . . . g.5130
ccgccgggacgtaaaaggggcttggcaggggcgtcctcgccccactcccggaacctggtt c.-301
. . . . . . g.5190
tcccgctgctcccgcgagcgtcgggagcccagcaggcctggccgaggcgggaccttcgtc c.-241
. . . . . . g.5250
gctccagcccccgtccccgcccccgcgcctccccgccgcgcggagctctggttggcttgc c.-181
. . . . . . g.5310
tttccaaccggactttggggctagcgtttagaaaagtctcgacctcctccggcccggtcc c.-121
. . . . . . g.5370
catcccaagaaccgactaaggctgtgagtgtccgggaaccagacccgcttggaggccaca c.-61
. . . . . . g.5430
gccccgacgtcccgcgcccacgcggcagatcgggcgctgcggcctgggagcctcggggag c.-1
. . . . . . g.5490
ATGCGGAGCAGGAGCAATTCCGGGGTCCGCTTGGACGGGTACGCGCGGCTGGTGCAGCAA c.60
M R S R S N S G V R L D G Y A R L V Q Q p.20
. | 02 . . . . g.34992
ACCATCCTGTGTTACCAG | AATCCCGTCACGGGGCTGCTGTCAGCCAGCCATGAGCAGAAG c.120
T I L C Y Q | N P V T G L L S A S H E Q K p.40
. . . . . . g.35052
GATGCCTGGGTGCGGGATAACATCTACAGTATCCTGGCCGTGTGGGGCCTGGGCATGGCC c.180
D A W V R D N I Y S I L A V W G L G M A p.60
. . . . . | 03. g.36824
TACCGTAAGAATGCAGACCGCGATGAGGACAAGGCCAAGGCCTACGAGCTGGAGCAG | AAC c.240
Y R K N A D R D E D K A K A Y E L E Q | N p.80
. . . . | 04 . . g.38105
GTGGTGAAGCTGATGCGAGGTCTTCTCCAGTGCATGATGAGACAG | GTGGCCAAAGTGGAG c.300
V V K L M R G L L Q C M M R Q | V A K V E p.100
. . . . . . g.38165
AAGTTCAAACACACTCAGAGCACCAAGGACAGCCTGCACGCCAAGTACAACACCGCCACC c.360
K F K H T Q S T K D S L H A K Y N T A T p.120
. . . . . . g.38225
TGTGGCACGGTGGTGGGCGACGACCAGTGGGGCCACCTCCAGGTGGATGCCACCTCTCTC c.420
C G T V V G D D Q W G H L Q V D A T S L p.140
. . . | 05 . . . g.40562
TTCCTCCTGTTCCTGGCCCAGATGACCGCCTCAG | GCTTACGTATCATTTTCACTCTCGAT c.480
F L L F L A Q M T A S G | L R I I F T L D p.160
. . . . . | 06. g.44207
GAGGTGGCCTTCATACAGAATCTTGTCTTTTACATAGAAGCTGCATATAAAGTCGCT | GAT c.540
E V A F I Q N L V F Y I E A A Y K V A | D p.180
. . . . . . g.44267
TATGGAATGTGGGAGCGTGGAGATAAGACTAATCAGGGCATCCCGGAATTGAATGCAAGC c.600
Y G M W E R G D K T N Q G I P E L N A S p.200
. | 07 . . . . g.45596
TCCGTAGGAATGGCCAAG | GCAGCTCTTGAGGCAATTGATGAACTGGACCTTTTTGGAGCC c.660
S V G M A K | A A L E A I D E L D L F G A p.220
. . . . . | 08. g.47690
CATGGAGGACGCAAGTCAGTGATTCATGTTCTGCCAGATGAGGTCGAGCACTGCCAG | TCT c.720
H G G R K S V I H V L P D E V E H C Q | S p.240
. . . . . . g.47750
ATTCTGTTCTCCATGCTGCCAAGAGCGTCGACATCTAAAGAAATTGATGCTGGACTTCTT c.780
I L F S M L P R A S T S K E I D A G L L p.260
. . . . . . g.47810
TCCATTATTTCCTTCCCGGCCTTTGCAGTGGAAGATGTAAACCTTGTAAATGTGACCAAA c.840
S I I S F P A F A V E D V N L V N V T K p.280
. . | 09 . . . . g.49350
AATGAAATTATTTCTAAGCTCCAG | GGGCGTTATGGATGCTGTCGCTTCCTTCGAGATGGT c.900
N E I I S K L Q | G R Y G C C R F L R D G p.300
. | 10 . . . . g.50655
TATAAAACTCCAAGAGAG | GACCCTAATCGACTGCATTATGACCCTGCTGAACTCAAGCTC c.960
Y K T P R E | D P N R L H Y D P A E L K L p.320
. . . . . . g.50715
TTCGAAAACATTGAATGTGAGTGGCCTGTGTTTTGGACATATTTTATAATAGATGGAGTC c.1020
F E N I E C E W P V F W T Y F I I D G V p.340
. . | 11 . . . . g.53251
TTCAGTGGTGATGCTGTTCAG | GTCCAAGAATACCGAGAGGCCCTGGAGGGAATACTCATC c.1080
F S G D A V Q | V Q E Y R E A L E G I L I p.360
. . . . . | 12. g.57617
AGAGGCAAGAATGGGATCCGCCTGGTGCCTGAACTCTACGCTGTCCCGCCTAACAAG | GTA c.1140
R G K N G I R L V P E L Y A V P P N K | V p.380
. . . . . . g.57677
GATGAAGAGTACAAGAATCCTCACACAGTAGACCGAGTTCCTATGGGGAAGGTGCCTCAT c.1200
D E E Y K N P H T V D R V P M G K V P H p.400
. . . . | 13 . . g.60071
CTGTGGGGCCAATCCTTGTACATCCTCAGCTCGCTGTTGGCAGAG | GGATTCCTTGCCGCT c.1260
L W G Q S L Y I L S S L L A E | G F L A A p.420
. . . . . . g.60131
GGTGAAATCGATCCCTTAAATAGAAGATTTTCCACTTCAGTCAAACCTGATGTTGTAGTA c.1320
G E I D P L N R R F S T S V K P D V V V p.440
| 14 . . . . . . g.62831
CAAG | TTACTGTTTTGGCAGAAAACAATCACATTAAGGACTTATTGAGGAAACACGGGGTG c.1380
Q V | T V L A E N N H I K D L L R K H G V p.460
. . . . . . g.62891
AACGTCCAGAGTATCGCGGACATTCATCCAATTCAAGTCCAGCCGGGCCGGATTCTTAGT c.1440
N V Q S I A D I H P I Q V Q P G R I L S p.480
. | 15 . . . . g.63626
CACATATATGCCAAGCTTG | GACGGAATAAGAATATGAATTTGAGTGGGCGACCGTATCGA c.1500
H I Y A K L G | R N K N M N L S G R P Y R p.500
. . . . . . g.63686
CATATTGGTGTCCTTGGAACCTCTAAACTATATGTGATTAGGAACCAAATCTTTACTTTT c.1560
H I G V L G T S K L Y V I R N Q I F T F p.520
| 16 . . . . . g.64888
ACACCCCAG | TTCACCGACCAGCATCACTTCTACCTGGCCCTCGACAATGAGATGATCGTG c.1620
T P Q | F T D Q H H F Y L A L D N E M I V p.540
. . . . . . g.64948
GAGATGCTAAGGATCGAGCTGGCCTACCTGTGCACCTGCTGGAGGATGACGGGCAGACCC c.1680
E M L R I E L A Y L C T C W R M T G R P p.560
. . . | 17 . . . g.65254
ACACTCACCTTCCCCATCAGTCGCACCATGCTCA | CAAATGATGGCTCAGACATTCATTCT c.1740
T L T F P I S R T M L T | N D G S D I H S p.580
. . . . . | 18 . g.69168
GCTGTGCTCTCCACAATTAGAAAACTAGAGGATGGATATTTTGGAGGAGCCAG | AGTAAAA c.1800
A V L S T I R K L E D G Y F G G A R | V K p.600
. . . . . . g.69228
TTAGGGAACCTTTCGGAATTTCTCACCACATCGTTCTACACATATCTGACTTTTCTGGAT c.1860
L G N L S E F L T T S F Y T Y L T F L D p.620
. . . . . . g.69288
CCAGACTGTGATGAGAAGTTGTTTGACAATGCCAGCGAAGGGACTTTCAGTCCTGATAGT c.1920
P D C D E K L F D N A S E G T F S P D S p.640
. . . . | 19 . . g.70525
GATTCAGATTTGGTAGGATATCTGGAAGACACCTGTAATCAAG | AAAGCCAAGACGAACTT c.1980
D S D L V G Y L E D T C N Q E | S Q D E L p.660
. . . . . . g.70585
GACCATTATATCAACCACCTTCTGCAAAGCACATCGTTGAGGTCCTATCTGCCTCCTCTT c.2040
D H Y I N H L L Q S T S L R S Y L P P L p.680
. . . . . . g.70645
TGTAAGAACACAGAAGACCGCCATGTCTTCAGTGCTATCCACTCCACGCGGGACATACTT c.2100
C K N T E D R H V F S A I H S T R D I L p.700
. . . | 20. . . g.78425
TCTGTGATGGCAAAAGCAAAGGGTTTGGAAGTTCCAT | TTGTTCCCATGACTTTGCCGACT c.2160
S V M A K A K G L E V P F | V P M T L P T p.720
. . . . . . g.78485
AAAGTTCTAAGTGCCCACCGTAAATCACTGAATCTTGTTGATTCTCCTCAGCCACTCCTA c.2220
K V L S A H R K S L N L V D S P Q P L L p.740
| 21 . . . . . . g.80482
GAAAAG | GTTCCTGAAAGTGACTTTCAGTGGCCCAGAGATGACCATGGTGACGTGGACTGT c.2280
E K | V P E S D F Q W P R D D H G D V D C p.760
. . . . . . g.80542
GAGAAGCTGGTTGAGCAGCTAAAAGATTGTTCGAACCTACAGGACCAAGCAGACATTCTG c.2340
E K L V E Q L K D C S N L Q D Q A D I L p.780
. . | 22 . . . . g.81346
TACATTCTTTATGTCATAAA | GGGTCCCAGCTGGGACACAAATCTCTCTGGACAGCACGGG c.2400
Y I L Y V I K | G P S W D T N L S G Q H G p.800
. . . . . . g.81406
GTCACCGTTCAAAACCTTCTTGGTGAGCTCTATGGGAAAGCCGGCTTGAACCAGGAGTGG c.2460
V T V Q N L L G E L Y G K A G L N Q E W p.820
. . . . . | 23. g.82268
GGTCTGATTCGCTACATCTCAGGCCTTCTCAGGAAGAAAGTGGAGGTCCTGGCTGAG | GCC c.2520
G L I R Y I S G L L R K K V E V L A E | A p.840
. . . . . . g.82328
TGCACAGACCTGCTTTCGCACCAGAAGCAGCTCACCGTGGGCCTGCCGCCCGAGCCCCGG c.2580
C T D L L S H Q K Q L T V G L P P E P R p.860
. | 24. . . . . g.82591
GAGAAGATCATCTCTGC | GCCCCTTCCCCCAGAGGAGCTCACAAAACTCATCTACGAGGCC c.2640
E K I I S A | P L P P E E L T K L I Y E A p.880
. . . | 25 . . . g.82762
AGTGGGCAGGACATCAGCATTGCCGTCCTCACGCAG | GAGATTGTGGTTTACCTGGCCATG c.2700
S G Q D I S I A V L T Q | E I V V Y L A M p.900
. . . . . . g.82822
TATGTCAGGGCGCAGCCCAGCCTCTTTGTGGAGATGCTGAGACTCCGGATTGGACTGATC c.2760
Y V R A Q P S L F V E M L R L R I G L I p.920
. . . . | 26 . . g.83517
ATTCAGGTGATGGCCACGGAGCTGGCACGGAGCCTGAACTGCTCAG | GAGAAGAGGCTTCT c.2820
I Q V M A T E L A R S L N C S G | E E A S p.940
. . . . . . g.83577
GAAAGTTTGATGAACCTCAGCCCTTTCGATATGAAAAATCTCCTGCACCATATTCTAAGT c.2880
E S L M N L S P F D M K N L L H H I L S p.960
. . | 27 . . . g.87791
GGGAAAGAGTTTGGCGTTGAAAGAAGTG | TGCGCCCTATCCACTCCTCCACATCCAGCCCT c.2940
G K E F G V E R S V | R P I H S S T S S P p.980
. . . . . . g.87851
ACCATCTCCATCCACGAGGTGGGCCATACCGGAGTCACCAAAACTGAGAGGAGTGGCATT c.3000
T I S I H E V G H T G V T K T E R S G I p.1000
. . | 28. . . | 29. g.90139
AACAGACTGAGGAGTGAAATGAAACAG | ATGACTAGGCGGTTTAGTGCTGATGAACAG | TTC c.3060
N R L R S E M K Q | M T R R F S A D E Q | F p.1020
. . . . . | 30 . g.92038
TTTTCTGTGGGCCAGGCCGCGTCCAGCAGTGCGCATTCCTCCAAGTCTGCG | AGGTCCAGC c.3120
F S V G Q A A S S S A H S S K S A | R S S p.1040
. . . . . . g.92098
ACCCCATCCTCGCCCACTGGCACGTCATCCTCAGACTCGGGAGGACATCACATCGGCTGG c.3180
T P S S P T G T S S S D S G G H H I G W p.1060
. . . . . . g.92158
GGTGAGCGGCAGGGCCAGTGGCTGCGCAGGAGAAGGCTGGATGGGGCCATCAACAGGGTC c.3240
G E R Q G Q W L R R R R L D G A I N R V p.1080
. . . . | 31 . . g.94189
CCCGTGGGATTCTACCAGAGGGTGTGGAAGATCCTCCAGAAG | TGCCACGGTCTCTCCATC c.3300
P V G F Y Q R V W K I L Q K | C H G L S I p.1100
. . . | 32 . . . g.94982
GATGGTTATGTCCTCCCATCCTCGACGACCCGAGAG | ATGACCCCGCATGAGATCAAGTTT c.3360
D G Y V L P S S T T R E | M T P H E I K F p.1120
. . . . . . g.95042
GCTGTCCATGTCGAATCGGTGCTGAACCGCGTGCCGCAGCCCGAGTACCGGCAGCTGCTG c.3420
A V H V E S V L N R V P Q P E Y R Q L L p.1140
. . . . . . g.95102
GTGGAAGCCATCATGGTGCTGACGCTGCTCTCGGACACGGAGATGACCAGCATCGGGGGC c.3480
V E A I M V L T L L S D T E M T S I G G p.1160
. . . . . | 33. g.95710
ATCATCCACGTGGACCAGATCGTGCAGATGGCCAGTCAGCTGTTCTTGCAGGACCAG | GTG c.3540
I I H V D Q I V Q M A S Q L F L Q D Q | V p.1180
. . . . . . g.95770
TCAATTGGTGCCATGGACACCCTGGAGAAAGACCAAGCCACAGGAATCTGCCACTTCTTT c.3600
S I G A M D T L E K D Q A T G I C H F F p.1200
. . . . . . g.95830
TATGACAGCGCTCCGAGTGGGGCTTATGGGACGATGACCTACCTAACAAGAGCAGTGGCT c.3660
Y D S A P S G A Y G T M T Y L T R A V A p.1220
. . . . g.95878
TCTTATTTGCAGGAATTGTTGCCCAATTCGGGCTGCCAGATGCAATAG c.3708
S Y L Q E L L P N S G C Q M Q X p.1235
. . . . . . g.95938
ggtctcacctggaaacatgatcacactctcaatctgtcacgtgccccctagccttactgg c.*60
. . . . . . g.95998
gaaccttctgtcccccaagatcccctgtgctatcaggaaagcatgtcccatcagaaacac c.*120
. . . . . . g.96058
tctcggggggcaatggtagcactcaccctgaaactgatgtatgttaaagccacagagata c.*180
. . . . . . g.96118
gagctgaggagtcctgtgttcccccgcaaggagcaccccgggatcattttctaggttcat c.*240
. . . . . . g.96178
ttctctggaacatttgctgtagcatctggtctcacggactctgaggaggaattggaaatt c.*300
. . . . . . g.96238
ggtctcttttgagtgcagagggaactgagacgccagcttaaattggctcttgcagagagt c.*360
. . . . . . g.96298
tacagaaatagtttcgatgagctagtgacacatcctaaagatgcaaagatcctcctggcg c.*420
. . . . . . g.96358
gcagtagccttgacaagggccacctcttcacaggatgcagtctgtctgtgcaccaaactc c.*480
. . . . . . g.96418
ttcaccaaatagaacacttgtgtctctctgtggaatgggggttttcttgtgccttgcttg c.*540
. . . . . . g.96478
ctttcatagccttccattttattggcatggctgccttgatgtaacataattctctgtccc c.*600
. . . . . . g.96538
caagatttagaaaattcctcttcgttcaccttggctcatggtcttccagggtttttatcc c.*660
. . . . . . g.96598
tggctgtctatgaactagggttttctcctgccttaggaaaaatactgcatcttctggaat c.*720
. . . . . . g.96658
ctagaaaaaaaaaaaaaaaaagacaaggctcctcttatagccaggcaagcagttgtttag c.*780
. . . . . . g.96718
ggctagacctgttgtccccgctcgcgtggggtgaacgccccgcagtggatactgtcctcc c.*840
. . . . . . g.96778
tgtgctctgggcgaggcgtcatagggtgagcacaagtcagcagtgccatggaagtgaaca c.*900
. . . . . . g.96838
ggcatgtccccgcagaaacaatgcttccctctgaaaaatagagccaggctaggaacctgt c.*960
. . . . . . g.96898
accctcttggtagaagcactttggtcttcactctcttgggtgggtgcagttggaggcacc c.*1020
. . . . . . g.96958
gattggaggagagcaaggttgagtcaggtgtcagggtctggcaaatcttttgccaatgcc c.*1080
. . . . . . g.97018
ctagcaatggagtttctctccgggcattgtcttaccttgggggaaggaaacaaaaccaat c.*1140
. . . . g.97065
gggaaaacagtttctgtaaataataaaccttgaaagacaaatgctca c.*1187
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 25d
©2004-2021 Leiden University Medical Center