(used for variant description)
(last modified August 25, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_001024630.3 in the RUNX2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008020.1, covering RUNX2 transcript NM_001024630.3.
(upstream sequence)
. . . g.5030
gtgtgaatgcttcattcgcctcacaaacaa c.-181
. . . . . . g.5090
ccacagaaccacaagtgcggtgcaaactttctccaggaggacagcaagaagtctctggtt c.-121
. . . . . . | 02 g.5350
tttaaatggttaatctccgcaggtcactaccagccaccgagaccaacagagtca | tttaag c.-61
. . . . . . g.5410
gctgcaagcagtatttacaacagagggtacaagttctatctgaaaaaaaaaggagggact c.-1
. . . . . | 03 g.99278
ATGGCATCAAACAGCCTCTTCAGCACAGTGACACCATGTCAGCAAAACTTCTTTTGGG | AT c.60
M A S N S L F S T V T P C Q Q N F F W D | p.20
. . . . . . g.99338
CCGAGCACCAGCCGGCGCTTCAGCCCCCCCTCCAGCAGCCTGCAGCCCGGCAAAATGAGC c.120
P S T S R R F S P P S S S L Q P G K M S p.40
. . . . . . g.99398
GACGTGAGCCCGGTGGTGGCTGCGCAACAGCAGCAGCAACAGCAGCAGCAGCAACAGCAG c.180
D V S P V V A A Q Q Q Q Q Q Q Q Q Q Q Q p.60
. . . . . . g.99458
CAGCAGCAGCAGCAACAGCAGCAGCAGCAGCAGGAGGCGGCGGCGGCGGCTGCGGCGGCG c.240
Q Q Q Q Q Q Q Q Q Q Q E A A A A A A A A p.80
. . . . . . g.99518
GCGGCGGCTGCGGCGGCGGCAGCTGCAGTGCCCCGGTTGCGGCCGCCCCACGACAACCGC c.300
A A A A A A A A A V P R L R P P H D N R p.100
. . . . . . g.99578
ACCATGGTGGAGATCATCGCCGACCACCCGGCCGAACTCGTCCGCACCGACAGCCCCAAC c.360
T M V E I I A D H P A E L V R T D S P N p.120
. . . . . . g.99638
TTCCTGTGCTCGGTGCTGCCCTCGCACTGGCGCTGCAACAAGACCCTGCCCGTGGCCTTC c.420
F L C S V L P S H W R C N K T L P V A F p.140
| 04 . . . . . . g.108603
AAG | GTGGTAGCCCTCGGAGAGGTACCAGATGGGACTGTGGTTACTGTCATGGCGGGTAAC c.480
K | V V A L G E V P D G T V V T V M A G N p.160
. . . . . . g.108663
GATGAAAATTATTCTGCTGAGCTCCGGAATGCCTCTGCTGTTATGAAAAACCAAGTAGCA c.540
D E N Y S A E L R N A S A V M K N Q V A p.180
. . . . | 05 . . g.114650
AGGTTCAACGATCTGAGATTTGTGGGCCGGAGTGGACGAG | GCAAGAGTTTCACCTTGACC c.600
R F N D L R F V G R S G R G | K S F T L T p.200
. . . . . . g.114710
ATAACCGTCTTCACAAATCCTCCCCAAGTAGCTACCTATCACAGAGCAATTAAAGTTACA c.660
I T V F T N P P Q V A T Y H R A I K V T p.220
. . | 06 . . . . g.168659
GTAGATGGACCTCGGGAACCCAGAA | GGCACAGACAGAAGCTTGATGACTCTAAACCTAGT c.720
V D G P R E P R R | H R Q K L D D S K P S p.240
. . . . . . g.168719
TTGTTCTCTGACCGCCTCAGTGATTTAGGGCGCATTCCTCATCCCAGTATGAGAGTAGGT c.780
L F S D R L S D L G R I P H P S M R V G p.260
. . . . . . g.168779
GTCCCGCCTCAGAACCCACGGCCCTCCCTGAACTCTGCACCAAGTCCTTTTAATCCACAA c.840
V P P Q N P R P S L N S A P S P F N P Q p.280
. | 07 . . . . g.188970
GGACAGAGTCAGATTACAG | ACCCCAGGCAGGCACAGTCTTCCCCGCCGTGGTCCTATGAC c.900
G Q S Q I T D | P R Q A Q S S P P W S Y D p.300
. . . . . . g.189030
CAGTCTTACCCCTCCTACCTGAGCCAGATGACGTCCCCGTCCATCCACTCTACCACCCCG c.960
Q S Y P S Y L S Q M T S P S I H S T T P p.320
. . . . . . g.189090
CTGTCTTCCACACGGGGCACTGGGCTTCCTGCCATCACCGATGTGCCTAGGCGCATTTCA c.1020
L S S T R G T G L P A I T D V P R R I S p.340
| 08 . . . . . . g.221959
G | ATGATGACACTGCCACCTCTGACTTCTGCCTCTGGCCTTCCACTCTCAGTAAGAAGAGC c.1080
D | D D T A T S D F C L W P S T L S K K S p.360
| 09. . . . . . g.223563
CAGGCAG | GTGCTTCAGAACTGGGCCCTTTTTCAGACCCCAGGCAGTTCCCAAGCATTTCA c.1140
Q A G | A S E L G P F S D P R Q F P S I S p.380
. . . . . . g.223623
TCCCTCACTGAGAGCCGCTTCTCCAACCCACGAATGCACTATCCAGCCACCTTTACTTAC c.1200
S L T E S R F S N P R M H Y P A T F T Y p.400
. . . . . . g.223683
ACCCCGCCAGTCACCTCAGGCATGTCCCTCGGTATGTCCGCCACCACTCACTACCACACC c.1260
T P P V T S G M S L G M S A T T H Y H T p.420
. . . . . . g.223743
TACCTGCCACCACCCTACCCCGGCTCTTCCCAAAGCCAGAGTGGACCCTTCCAGACCAGC c.1320
Y L P P P Y P G S S Q S Q S G P F Q T S p.440
. . . . . . g.223803
AGCACTCCATATCTCTACTATGGCACTTCGTCAGGATCCTATCAGTTTCCCATGGTGCCG c.1380
S T P Y L Y Y G T S S G S Y Q F P M V P p.460
. . . . . . g.223863
GGGGGAGACCGGTCTCCTTCCAGAATGCTTCCGCCATGCACCACCACCTCGAATGGCAGC c.1440
G G D R S P S R M L P P C T T T S N G S p.480
. . . . . . g.223923
ACGCTATTAAATCCAAATTTGCCTAACCAGAATGATGGTGTTGACGCTGATGGAAGCCAC c.1500
T L L N P N L P N Q N D G V D A D G S H p.500
. . . . . . g.223983
AGCAGTTCCCCAACTGTTTTGAATTCTAGTGGCAGAATGGATGAATCTGTTTGGCGACCA c.1560
S S S P T V L N S S G R M D E S V W R P p.520
g.223989
TATTGA c.1566
Y X p.521
. . . . . . g.224049
aattcctcagcagtggcccagtggtatctgggggccacatcccacacgtatcaatatata c.*60
. . . . . . g.224109
catatatagagagagtgcatatatatgtatatcgattagctatctacaaagtgcctattt c.*120
. . . . . . g.224169
tttagaagatttttcattcactcactcagtcatgatcttgcagccataagagggtagata c.*180
. . . . . . g.224229
ttgagaagcagaaggctcaagagagacaattgcaatcgagcttcagattgtttactattt c.*240
. . . . . . g.224289
aagatgtacttttacaaaggaacaaagaagggaaaaggtatttttgtttttgttgtttgg c.*300
. . . . . . g.224349
tctgttatcatcaataacctgttcatatgccaattcagagaggtggactccaggttcagg c.*360
. . . . . . g.224409
agggagaagagcaaagccgcttcctctctgtgctttgaaacttcacaccctcacggtggc c.*420
. . . . . . g.224469
agctgtgtatggaccagtgccctccgcagacagctcacaaaaccagttgaggtgcactaa c.*480
. . . . . . g.224529
agggacatgaggtagaatggatgcttccatcacagtaccatcattcagaataactcttcc c.*540
. . . . . . g.224589
aatttctgctttcagacatgctgcaggtcctcatctgaactgttgggttcgttttttttt c.*600
. . . . . . g.224649
ttttttttcctgctccaagaaagtgacttcaaaaataactgatcaggatagattatttta c.*660
. . . . . . g.224709
ttttactttttaacactccttctccccttttcccactgaaccaaaaagaaatcccatccc c.*720
. . . . . . g.224769
taaaacctgccttctccttttatgcaaaactgaaaatggcaatacattattatagccata c.*780
. . . . . . g.224829
atggtatagatagtgattgcgtttggctatgtgttgttttctttttttttaaattatgaa c.*840
. . . . . . g.224889
tatgtgtaaaatctgaggtaacttgctaacgtgaatggtcatataactttaaagatatat c.*900
. . . . . . g.224949
ttataattatttaatgacatttggacccttgaaacatttcttagtgtattgatatgttga c.*960
. . . . . . g.225009
cttcggtctctaaaagtgctctttattaaataacaaatttcttcagtggtctagagccat c.*1020
. . . . . . g.225069
atctgaaatattgctaagcaatttcagttcatccaggcacaatgtgattttaaaaaatac c.*1080
. . . . . . g.225129
ttccatctccaaatattttagatatagattgtttttgtgatgtatgaaggaaatgttatg c.*1140
. . . . . . g.225189
tttagttctttcagatctttgaatgcctctaacacagctttgccttctaaagcggtaatt c.*1200
. . . . . . g.225249
agggatttaaaaaacaacctttagccctttatcagcatgaaatgctggagtgatgtggtt c.*1260
. . . . . . g.225309
ttctaatttctttggggtaattatgactcttgtcatattaaaaagacaagcacaagtaaa c.*1320
. . . . . . g.225369
tcattgaactacagaaaaatgttctgtggtttcatagttaagcaaaactctaaatcgcca c.*1380
. . . . . . g.225429
ggcttcatagcaaagacatagtcagctaaaagccgcacatgtggatagagggttcaatta c.*1440
. . . . . . g.225489
tgagacacctagtacaggagagcaaaattgcaccagagattcttaaccaaccagccttac c.*1500
. . . . . . g.225549
caaacaacacaacaggggaaccccaatctgccttacccaaggccccactggcagctttcc c.*1560
. . . . . . g.225609
acagaatttgcatttagaggagcagaatgacatcactgtcctttgggagtaggtcctctg c.*1620
. . . . . . g.225669
aaaaggcagcaggttccagcaggtagctgagctgagaggacatatggcccacggggacct c.*1680
. . . . . . g.225729
acagacagcctttgacatttgtatttcttacaatggagggccaaggagggcaaggggctg c.*1740
. . . . . . g.225789
tggagtttggtgtctactagtgtgtatgaatttgagctagagtccttctgtggcatgcac c.*1800
. . . . . . g.225849
tttgaccactcctggcagtcacatggcagatttccaagtgcaaatccttaatccaaacaa c.*1860
. . . . . . g.225909
ggatcatctaatgacaccaccaggccaatccctgctctcctccccgaaaagtcagggtcc c.*1920
. . . . . . g.225969
cttcattggaatcctccacccacccaagcagaatttagcagagatttgccttcaaaccct c.*1980
. . . . . . g.226029
aacggcccccttgttctctggtccttctcaaacccacctttgtaggccacccagcattgc c.*2040
. . . . . . g.226089
aggacagcgtgtggggcagctggacctgtgcttcctgcctgggagtctcccttggaattc c.*2100
. . . . . . g.226149
atcctgactccttctaataaaaatggatgggaaagcaaaacactttgccttctaaaggcc c.*2160
. . . . . . g.226209
gtataccaagtatgcttagataaataagccacttttctattacttaagtaagaaggaagt c.*2220
. . . . . . g.226269
agtaattgatactatttattgtttgtgtgtggtagcttgaagcacaccactgtccattta c.*2280
. . . . . . g.226329
tttgtaagtgtaaaatatgtgtgtttgtttcagcagcacttaaaaaagccagtgtctggt c.*2340
. . . . . . g.226389
tacacatttcaattttaattaattgacataaaaatgctaccgccagtgccagctgcatcc c.*2400
. . . . . . g.226449
tatttaattaaaaaggtactatatttgtacattattttttaatgttaaaagggctttttt c.*2460
. . . . . . g.226509
aagtttacagtacacataccgagtgactttagggatgcttttgtgttgaaatgttactat c.*2520
. . . . . . g.226569
agtggctgcaggcagcaacccagaaacactttagaagctttttttccttgggaaaaattc c.*2580
. . . . . . g.226629
aagcacttcttccctccaccctcactccaaccaccccaatgggggtaattcacatttctt c.*2640
. . . . . . g.226689
agaacaaattctgcccttttttggtctagggattaaaattttgtttttctttctttcttt c.*2700
. . . . . . g.226749
ttttttttttttcactgaacccttaatttgcactgggtcatgtgtttgatttgtgatttc c.*2760
. . . . . . g.226809
aagaccaaagcaaagtcttactactactgtggaaccatgtactagttcctgggaattaaa c.*2820
. . . . . . g.226869
atagcgtggttctctttgtagcacaaacattgctggaatttgcagtcttttcaatgcagc c.*2880
. . . . . . g.226929
cacatttttatccatttcagttgtctcacaaattttaacccatatcagagttccagaaca c.*2940
. . . . . . g.226989
ggtaccacagctttggttttagattagtggaataacattcagcccagaactgagaaactc c.*3000
. . . . . . g.227049
aacagattaactatcgtttgctctttagacggtctcactgcctctcacttgccagagccc c.*3060
. . . . . . g.227109
tttcaaaatgagcagagaagtccacaccattagggaccatctgtgataaattcagaaggg c.*3120
. . . . . . g.227169
aggagatgtgtgtacagctttaaggattccctcaattccgaggaaagggactggcccaga c.*3180
. . . . . . g.227229
atccaggttaatacatggaaacacgaagcattagcaaaagtaataattatacctatggta c.*3240
. . . . . . g.227289
tttgaaagaacaataataaaagacacttcttccaaaccttgaatttgttgtttttagaaa c.*3300
. . . . . . g.227349
acgaatgcatttaaaaatattttctatgtgagaattttttagatgtgtgtttacttcatg c.*3360
. . . . . . g.227409
tttacaaataactgtttgctttttaatgcagtactttgaaatatatcagccaaaaccata c.*3420
. . . . . . g.227469
acttacaataatttcttaggtattctgaataaaattccatttcttttggatatgctttac c.*3480
. . . . . . g.227529
cattcttaggtttctgtggaacaaaaatatttgtagcattttgtgtaaatacaagctttc c.*3540
. . . . . . g.227589
atttttattttttccaattgctattgcccaagaattgctttccatgcacatattgtaaaa c.*3600
. . . . . . g.227649
attccgctttgtgccacaggtcatgattgtggatgagtttactcttaacttcaaagggac c.*3660
. . . . . . g.227709
tatttgtattgtatgttgcaactgtaaattgaattatttggcatttttctcatgattgta c.*3720
. . . . . g.227766
atattaatttgaagtttgaatttaattttcaataaaatggcttttttggttttgtta c.*3777
(downstream sequence)
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