(used for variant description)
(last modified November 27, 2023)
This file was created to facilitate the description of sequence variants on transcript NM_019096.3 in the GTPBP2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000006.11, covering GTPBP2 transcript NM_019096.3.
(upstream sequence)
. . . g.5037
ggggaggggccgggcggggggctggcggcagcggcgg c.-1
. . . . . . g.5097
ATGGACTCGCGGGTATCGGAGCTGTTCGGCGGCTGCTGCCGGCCCGGAGGGGGCCCGGCC c.60
M D S R V S E L F G G C C R P G G G P A p.20
. . . . . . g.5157
GTGGGCGGAACCCTCAAGGCTAGGGGGGCCGGCAGCAGCAGCGGCTGCGGGGGGCCAAAG c.120
V G G T L K A R G A G S S S G C G G P K p.40
. . . . . . g.5217
GGAAAGAAGAAGAACGGAAGGAACAGAGGGGGCAAAGCCAACAACCCCCCGTATTTGCCC c.180
G K K K N G R N R G G K A N N P P Y L P p.60
| 02 . . . | 03 . . . g.7816
CCCGAG | GCTGAAGATGGAAACATTGAATATAAA | TTGAAGCTGGTGAATCCATCCCAGTAC c.240
P E | A E D G N I E Y K | L K L V N P S Q Y p.80
. . . . . . g.7876
CGCTTTGAGCACCTGGTGACACAAATGAAGTGGCGGCTCCAGGAGGGACGTGGTGAGGCC c.300
R F E H L V T Q M K W R L Q E G R G E A p.100
. . . . . . g.7936
GTCTACCAGATTGGGGTAGAGGACAATGGGCTGCTGGTGGGGCTGGCTGAGGAGGAAATG c.360
V Y Q I G V E D N G L L V G L A E E E M p.120
. . . | 04 . . g.8357
CGAGCTTCGCTCAAGACCCTGCACCGGATGGCAGAGAA | GGTTGGGGCAGACATAACCGTT c.420
R A S L K T L H R M A E K | V G A D I T V p.140
. . . . . . g.8417
CTTCGAGAGCGAGAAGTGGATTATGATAGCGACATGCCCCGGAAGATCACCGAGGTGCTA c.480
L R E R E V D Y D S D M P R K I T E V L p.160
. . | 05. . . . g.8672
GTACGAAAGGTCCCTGACAACCAACAG | TTCCTAGACCTCCGTGTGGCCGTCCTGGGGAAT c.540
V R K V P D N Q Q | F L D L R V A V L G N p.180
. . . . . . g.8732
GTGGACTCTGGGAAGTCAACTCTGCTTGGAGTCCTGACCCAGGGAGAGCTGGACAATGGG c.600
V D S G K S T L L G V L T Q G E L D N G p.200
. . . . . . g.8792
CGGGGCCGGGCTCGGCTCAACCTTTTCCGCCACCTGCATGAGATTCAGTCTGGCCGAACC c.660
R G R A R L N L F R H L H E I Q S G R T p.220
. . . . | 06 . . g.9152
TCCAGCATCAGCTTCGAGATCCTGGGCTTTAACAGCAAGGGAGAG | GTGGTGAATTACAGC c.720
S S I S F E I L G F N S K G E | V V N Y S p.240
. . . . . . g.9212
GACTCACGGACAGCAGAAGAGATCTGTGAGAGCAGCTCCAAGATGATCACCTTCATCGAC c.780
D S R T A E E I C E S S S K M I T F I D p.260
. . . . . . g.9272
CTGGCAGGCCACCATAAGTACCTACACACCACCATCTTTGGCCTCACATCATACTGCCCC c.840
L A G H H K Y L H T T I F G L T S Y C P p.280
. . . . | 07 . . g.9490
GACTGCGCCCTGCTCCTCGTCAGTGCCAACACTGGGATTG | CTGGCACCACAAGGGAACAT c.900
D C A L L L V S A N T G I A | G T T R E H p.300
. . . . . . g.9550
CTGGGGCTGGCCCTGGCCCTGAAAGTGCCCTTCTTCATCGTGGTCAGCAAGATCGACCTA c.960
L G L A L A L K V P F F I V V S K I D L p.320
. . . . . . g.9610
TGTGCCAAGACCACAGTGGAGAGGACAGTACGCCAGCTGGAGCGGGTCCTCAAGCAGCCT c.1020
C A K T T V E R T V R Q L E R V L K Q P p.340
. . . . . . g.9670
GGCTGCCACAAGGTCCCCATGCTGGTCACCTCTGAGGATGATGCCGTCACTGCTGCCCAG c.1080
G C H K V P M L V T S E D D A V T A A Q p.360
. . | 08 . . . . g.10171
CAGTTTGCTCAGTCACCCAA | TGTCACCCCCATCTTCACATTGTCCAGTGTGTCTGGAGAG c.1140
Q F A Q S P N | V T P I F T L S S V S G E p.380
. . . . . . g.10231
AGTCTGGACCTCCTCAAAGTCTTTCTGAATATTCTGCCGCCACTCACCAACAGCAAAGAG c.1200
S L D L L K V F L N I L P P L T N S K E p.400
. . . | 09 . . . g.10428
CAGGAGGAACTCATGCAGCAGCTGACGGAGTTCCAG | GTGGATGAAATCTACACAGTACCA c.1260
Q E E L M Q Q L T E F Q | V D E I Y T V P p.420
. . . | 10 . . . g.11420
GAGGTGGGGACTGTTGTTGGAGGAACACTTTCCAG | TGGGATTTGCCGTGAGGGGGACCAG c.1320
E V G T V V G G T L S S | G I C R E G D Q p.440
. . . . . . g.11480
CTGGTGGTGGGCCCCACGGATGATGGCTGCTTCCTGGAGCTGAGAGTATGCAGCATCCAG c.1380
L V V G P T D D G C F L E L R V C S I Q p.460
. . . . . . g.11540
CGCAACCGCTCTGCCTGTCGTGTGCTGCGAGCTGGTCAGGCTGCTACACTGGCGCTTGGG c.1440
R N R S A C R V L R A G Q A A T L A L G p.480
. . | 11. . . . g.12065
GACTTTGACCGTGCACTGCTTCGCAAG | GGCATGGTGATGGTGAGCCCGGAGATGAATCCT c.1500
D F D R A L L R K | G M V M V S P E M N P p.500
. . . . . . g.12125
ACCATCTGCTCGGTGTTTGAGGCAGAGATAGTCTTACTGTTCCATGCCACCACCTTCCGA c.1560
T I C S V F E A E I V L L F H A T T F R p.520
. . . . . . g.12185
CGAGGATTCCAGGTGACAGTACACGTGGGCAACGTACGTCAGACGGCAGTGGTGGAAAAG c.1620
R G F Q V T V H V G N V R Q T A V V E K p.540
. | 12 . . . . . g.12457
ATCCATGCCAAG | GACAAACTGCGGACAGGCGAGAAGGCAGTGGTACGTTTCCGCTTCCTG c.1680
I H A K | D K L R T G E K A V V R F R F L p.560
. . . . . . g.12517
AAACACCCAGAGTACCTGAAGGTGGGCGCCAAACTGCTGTTCCGGGAGGGTGTCACCAAG c.1740
K H P E Y L K V G A K L L F R E G V T K p.580
. . . . . . g.12577
GGCATCGGCCATGTCACTGATGTACAAGCCATTACAGCAGGAGAAGCCCAGGCCAACATG c.1800
G I G H V T D V Q A I T A G E A Q A N M p.600
g.12586
GGCTTCTGA c.1809
G F X p.602
. . . . . . g.12646
acccttcaggcagggacagttctattgctgtccctacaatatataaggtgacttctggcc c.*60
. . . . . . g.12706
atgctgccctgccattggcggctctgtgtgttaataggctagggagagaggggtgctgtc c.*120
. . . . . . g.12766
tgccacttgctccctgccaactttctggagaggtgccaaacttggtgtggccaggaaagg c.*180
. . . . . . g.12826
gcagtcctgagggagaagacaggattcagggcagtgctccgaagctgtgtgctcacctgg c.*240
. . . . . . g.12886
ttggctcatcaaacctggcaaccctgtggcctgtctgccggagctgactggatccactca c.*300
. . . . . . g.12946
tcaattcttcgtccccactactaagactgggcatgttttgctggtgtggtctctgcactt c.*360
. . . . . . g.13006
caggaatggtcacaacagggggtagccctcaaaagcactcctttttctatacctcttctc c.*420
. . . . . . g.13066
aaggccatgtaagttgcccatctctacctggctgtggacaaaaggttatctgctcttggc c.*480
. . . . . . g.13126
catctggtggtggtggcggcccagagtctgaagaaatggcacagggacagtgaatggtag c.*540
. . . . . . g.13186
tgttgccaccctgtgctgaggcctgaggcctcttcctcagctttatctccctttccttca c.*600
. . . . . . g.13246
ctcaagggccatttccccagtccctatctcccccatcccctcccggcttataggccccac c.*660
. . . . . . g.13306
aggtgctatttgttgtgctggcccaggcgtggggctaccaagcaaaggcttggcatatac c.*720
. . . . . . g.13366
caaaggccagctgcatgcccatcagtctggtctttttcctctgcggtcatgttggctttc c.*780
. . . . . . g.13426
atgctggatcaaatgttttactttcccagactggtggcatctgagttccccatcctacca c.*840
. . . . . . g.13486
ctctcaccccactttcctgccccacctaaaccctcgttttagtaatttgtagtgactgtt c.*900
. . . . . . g.13546
cccttccctctgttgcagggaaccaggaggaaagggaaagatgttgccatatttcctact c.*960
. . . . . . g.13606
ctttaggcatggactctcctttccctttgttagtgtcctgggttcccatggactcaggga c.*1020
. . . . . . g.13666
tttgttggctaaggtttctctgtgcatatatatatatatacatatgtatatatatttaaa c.*1080
. . . . . g.13719
tacacatatatattgtacagaataaaaatgttttattgaatacactgtgctta c.*1133
(downstream sequence)
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