(used for variant description)
(last modified November 16, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_001160036.1 in the RHOBTB2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_047133.1, covering RHOBTB2 transcript NM_001160036.1.
(upstream sequence)
. . . . g.5202
gtccttcacctgccttcccataagctggactttggatcccagc c.-241
. . . . . . g.5262
ccttaaaacccttgtgttgtttcttcctgcagacctggtcgagaacactacttcaggaca c.-181
. . . . . | 02 . g.9826
gggaatagtgacaggccagcagagccccagaggcgaggtggcag | taaacaagaatatgca c.-121
. . . . . . g.9886
cgcgcagtggaccacttctgaaggtcaacatataactttctcatccctgacatcaactgt c.-61
. . . . | 03 . . g.12326
catccctgtgagcagaaccaactaccaaaggagagag | gagcctggagggaacacagagcg c.-1
. . . . . | 04 . g.22171
ATGCAAGCCTGGAGAAAAGGCCCCGATGGCCCCCAGAAGACCTCTTCAGACAGCAT | GTCC c.60
M Q A W R K G P D G P Q K T S S D S M | S p.20
. . . . . . g.22231
CGTTTAATGGATTCTGACATGGATTATGAAAGGCCAAACGTAGAGACCATCAAGTGCGTT c.120
R L M D S D M D Y E R P N V E T I K C V p.40
. . . . . . g.22291
GTGGTGGGGGACAACGCCGTGGGTAAGACCAGGCTCATCTGTGCCCGCGCTTGCAATGCC c.180
V V G D N A V G K T R L I C A R A C N A p.60
. . . . . . g.22351
ACCCTCACCCAGTACCAGCTGCTGGCCACGCATGTGCCCACAGTATGGGCCATCGACCAA c.240
T L T Q Y Q L L A T H V P T V W A I D Q p.80
. | 05 . . . . g.23156
TATCGTGTGTGCCAGGAG | GTGCTGGAACGCTCCCGAGACGTGGTAGATGATGTCAGCGTC c.300
Y R V C Q E | V L E R S R D V V D D V S V p.100
. . . . . . g.23216
TCTCTGCGCCTCTGGGACACCTTTGGAGACCACCACAAAGACCGTCGCTTTGCTTATGGG c.360
S L R L W D T F G D H H K D R R F A Y G p.120
| 06 . . . . . . g.23760
AG | ATCTGATGTGGTGGTTCTGTGCTTCTCCATTGCCAACCCCAATTCCCTCCACCATGTC c.420
R | S D V V V L C F S I A N P N S L H H V p.140
. . . . . . g.23820
AAGACCATGTGGTACCCAGAAATCAAGCACTTCTGCCCCCGAGCACCTGTCATCTTGGTG c.480
K T M W Y P E I K H F C P R A P V I L V p.160
. . . . . . g.23880
GGCTGCCAGTTGGACCTGCGCTACGCTGACCTGGAGGCTGTCAACAGGGCTAGGCGACCC c.540
G C Q L D L R Y A D L E A V N R A R R P p.180
| 07 . . . . . g.24522
TTGGCTAG | GCCCATCAAACCTAATGAAATCCTGCCCCCAGAGAAGGGTCGGGAGGTGGCC c.600
L A R | P I K P N E I L P P E K G R E V A p.200
. . . . . . g.24582
AAGGAGCTGGGCATCCCCTACTATGAGACCAGCGTGGTGGCCCAGTTCGGCATCAAGGAC c.660
K E L G I P Y Y E T S V V A Q F G I K D p.220
. . . . . . g.24642
GTCTTTGACAACGCCATCCGAGCTGCACTCATCTCCCGCCGCCACCTGCAGTTCTGGAAG c.720
V F D N A I R A A L I S R R H L Q F W K p.240
. . . . . . g.24702
TCCCACCTCCGCAATGTGCAGCGGCCTCTGCTGCAGGCACCCTTCCTACCCCCCAAGCCA c.780
S H L R N V Q R P L L Q A P F L P P K P p.260
. . . . . . g.24762
CCGCCCCCGATCATCGTGGTGCCCGACCCTCCCTCCAGCAGCGAGGAGTGCCCCGCCCAC c.840
P P P I I V V P D P P S S S E E C P A H p.280
. . . . . . g.24822
CTCCTGGAGGACCCGCTCTGCGCGGACGTCATCCTGGTGCTGCAGGAGCGGGTGCGCATC c.900
L L E D P L C A D V I L V L Q E R V R I p.300
. . . . . . g.24882
TTTGCCCACAAGATCTACCTCTCCACCTCTTCCTCCAAGTTCTATGACCTGTTCCTCATG c.960
F A H K I Y L S T S S S K F Y D L F L M p.320
. . . . . . g.24942
GACCTGAGTGAGGGGGAGCTGGGGGGCCCCTCGGAGCCAGGGGGCACCCACCCAGAGGAC c.1020
D L S E G E L G G P S E P G G T H P E D p.340
. . . . . . g.25002
CACCAGGGCCACTCTGATCAACACCACCACCATCACCACCACCACCATGGGCGAGACTTC c.1080
H Q G H S D Q H H H H H H H H H G R D F p.360
. . . . . . g.25062
CTGCTCCGAGCAGCCAGCTTTGACGTGTGCGAGAGCGTGGATGAGGCTGGGGGCTCCGGT c.1140
L L R A A S F D V C E S V D E A G G S G p.380
. . . . . . g.25122
CCTGCTGGCCTCCGTGCTTCCACCAGCGACGGGATCTTACGGGGCAACGGAACAGGGTAC c.1200
P A G L R A S T S D G I L R G N G T G Y p.400
. . . . . . g.25182
CTACCGGGCAGGGGTCGTGTGCTGTCTTCCTGGAGCCGAGCTTTTGTGAGCATCCAGGAA c.1260
L P G R G R V L S S W S R A F V S I Q E p.420
. . . . . . g.25242
GAGATGGCAGAAGATCCTCTCACCTACAAATCCCGGCTGATGGTGGTGGTGAAGATGGAC c.1320
E M A E D P L T Y K S R L M V V V K M D p.440
. . . . . . g.25302
AGTTCCATCCAGCCGGGGCCCTTCCGGGCTGTCCTCAAGTACCTGTACACGGGGGAGCTA c.1380
S S I Q P G P F R A V L K Y L Y T G E L p.460
. . . . . . g.25362
GATGAGAACGAGCGTGACCTCATGCACATTGCCCACATTGCTGAGCTGCTCGAGGTCTTT c.1440
D E N E R D L M H I A H I A E L L E V F p.480
. . . . . . g.25422
GATCTGCGCATGATGGTGGCCAACATTCTCAACAATGAGGCCTTCATGAACCAGGAGATC c.1500
D L R M M V A N I L N N E A F M N Q E I p.500
. . . . . . g.25482
ACCAAGGCCTTCCACGTCCGCCGGACCAACCGGGTTAAGGAGTGCTTGGCAAAAGGCACC c.1560
T K A F H V R R T N R V K E C L A K G T p.520
| 08. . . . . . g.25788
TTCTCAG | ATGTGACCTTCATCCTGGATGATGGCACCATCAGCGCCCACAAGCCCCTGTTG c.1620
F S D | V T F I L D D G T I S A H K P L L p.540
. . . . . . g.25848
ATTTCCAGCTGTGACTGGATGGCTGCCATGTTTGGGGGGCCATTTGTGGAGAGCTCCACC c.1680
I S S C D W M A A M F G G P F V E S S T p.560
| 09 . . . . . . g.28334
CGGGAG | GTGGTGTTTCCCTACACAAGCAAGAGCTGCATGCGGGCCGTGCTGGAATACCTC c.1740
R E | V V F P Y T S K S C M R A V L E Y L p.580
. . . . . . g.28394
TACACCGGCATGTTCACCTCCAGCCCCGACCTGGATGACATGAAGCTCATCATTCTAGCC c.1800
Y T G M F T S S P D L D D M K L I I L A p.600
. . . | 10. . . g.32455
AACCGCCTCTGCCTGCCACACCTGGTTGCCCTCACAG | AGCAGTACACAGTGACCGGGCTG c.1860
N R L C L P H L V A L T E | Q Y T V T G L p.620
. . . . . . g.32515
ATGGAAGCGACCCAGATGATGGTGGACATCGATGGGGACGTCCTTGTGTTCCTGGAACTG c.1920
M E A T Q M M V D I D G D V L V F L E L p.640
| 11 . . . . . . g.33434
GCTCAG | TTCCACTGTGCGTACCAGCTGGCCGACTGGTGTCTCCACCACATCTGCACCAAC c.1980
A Q | F H C A Y Q L A D W C L H H I C T N p.660
. . . . . | 12 . g.35002
TACAACAACGTGTGCCGCAAGTTCCCCCGAGACATGAAGGCCATGTCCCCAG | AAAACCAG c.2040
Y N N V C R K F P R D M K A M S P E | N Q p.680
. . . . . . g.35062
GAGTATTTCGAGAAGCATCGGTGGCCACCTGTGTGGTACCTGAAGGAGGAAGATCATTAC c.2100
E Y F E K H R W P P V W Y L K E E D H Y p.700
. . . . . . g.35122
CAGCGGGCACGGAAGGAGCGTGAGAAGGAGGACTACCTCCACCTCAAGCGGCAGCCCAAA c.2160
Q R A R K E R E K E D Y L H L K R Q P K p.720
. . . . . . g.35182
CGGCGTTGGCTCTTCTGGAACAGTCCATCCTCCCCGTCTTCCTCGGCAGCCTCCTCCTCA c.2220
R R W L F W N S P S S P S S S A A S S S p.740
. . . g.35212
TCCCCATCTTCCTCCTCGGCTGTGGTCTGA c.2250
S P S S S S A V V X p.749
. . . . . . g.35272
gatgctgccaccctcttctgaccctgctgctgttgtccccatccgccttcacccctctgc c.*60
. . . . . . g.35332
tcttccgcatcaccccatccaccttacagggaccagggggcccacgtaaccaggacccag c.*120
. . . . . . g.35392
agggtggagctcttcttaccagccaccgtggctcagccagagaggagctgagccctgtgg c.*180
. . . . . . g.35452
agcagaacgggaaccacctgcagaggtccccagacccaaagcaggacgggagacaactgc c.*240
. . . . . . g.35512
ttggaggagcgaagagccctggcattttatctctgggtttgagagccctagagtcaaagg c.*300
. . . . . . g.35572
gaaagcctcccagcctccagggcttctctgtgtgtcttggttgctgctctggccagggag c.*360
. . . . . . g.35632
gcagccccactcccagcaagcagaagtgatcctcgagggtcctgcccctgttggccatat c.*420
. . . . . . g.35692
ctttccaccgacggacttgagtgttgcatttgttttgtgggcatttccacacgaagccta c.*480
. . . . . . g.35752
ctcacaccctcactggagaagtcagggtagaaattgagccttcagagcccaactcaaggc c.*540
. . . . . . g.35812
ttctacatcctggggtgcagctgcaaaaggccagacgtggaaaggcctgtatcctgccag c.*600
. . . . . . g.35872
tgtccctccgtcccagggggctgtgctagcacagacctgagaatggggacacaggtcatt c.*660
. . . . . . g.35932
cagagctccaggcctggaagcagtgcctcttggtgcaacaagaaacttctccctcacccc c.*720
. . . . . . g.35992
ctcctttaccctcagatttggagatggtaaccaaaggaagcagctgggacaggtggagaa c.*780
. . . . . . g.36052
ggaagtaggaatgagtgcacggcgaccccgtgctcctcagggccctcccctgcctctggg c.*840
. . . . . . g.36112
tggcactgctttttatagggtggggcaaaattagcaaaaaacaaaaaccaatgacaacca c.*900
. . . . . . g.36172
aactgaaaccgaaacgaaaaatcaacaaacactctgtcctctatccctccaaagaatgaa c.*960
. . . . . . g.36232
aatcagaaaaagcccctgcctagctcacatttctataaacagaggcccccatgatgagga c.*1020
. . . . . . g.36292
ggtgaagatttaggttgcagaatcgactccaatgcctttcaggaaaggactcggcacttc c.*1080
. . . . . . g.36352
tctgactgcggaggccctgaccctgccagctggctccgagggcaacacaggggcctggcc c.*1140
. . . . . . g.36412
tctagagggctggtgattgaggggcccgggctggcggcaaagaggggtttggtctcgggg c.*1200
. . . . . . g.36472
cttaaatggcaccagactcttgcttttgcccatctggagactgcaggctcccttccttac c.*1260
. . . . . . g.36532
cctcagagagtgcttatggtgggtgtttttgcggggctgcaataggggccaaaagtcagg c.*1320
. . . . . . g.36592
gaaaggggcactgacctgtagtgaaaggccacaggacacagccttattactgctggggtg c.*1380
. . . . . . g.36652
ggataaggggaaggagaagagggagaatggagcaggaggaaaagcagagttggtctagag c.*1440
. . . . . . g.36712
aggaggagggcggggctggaggaatgtgggggattgaaactagctcccagcccccatggg c.*1500
. . . . . . g.36772
gcagcagctgggccacaattgcccctttccgttttctaaccccgactcagatttcaccac c.*1560
. . . . . . g.36832
ccacactctttttaggtgtaaaagatggagtcccacggaggaggggcagagccaggaggc c.*1620
. . . . . . g.36892
agtggggctgtgggctcagagctcaggagtcgccttacctgagagagatgttctagctga c.*1680
. . . . . . g.36952
gagggcctggccctggggtgggctccaggaaaacgctggttaggcctgggattgagctaa c.*1740
. . . . . . g.37012
cctgaaacaaaggtagcaggcaggacctaatgaccagaggttaaatcctcatcaagagag c.*1800
. . . . . . g.37072
accaggcggctggaggacaagcggctctaaccctgggggcggccatgttgtccaggccca c.*1860
. . . . . . g.37132
ggcccctccaggactgtggctgcctcccctccacggcctccagggcggctggctggaaag c.*1920
. . . . . . g.37192
ccacgcgtatgctgccctctacaggctgctcggcctccctgcagctcagcgcagcccagg c.*1980
. . . . . . g.37252
gctccaagtgaggcccagaagcccatgggcagggctggggggacgaagggggaacccgga c.*2040
. . . . . . g.37312
gcacctccacttctagggaagatggacagcgtgggggcacacctgggcctcccggaagct c.*2100
. . . . . . g.37372
gtggacgaaagggagagcgggtcctccagggcaaggggaacgggaaataggtctcctagg c.*2160
. . . . . . g.37432
tgcctgaagcgctgagcaacctgggtaccctggtggggatgcagggaaggccggggcaga c.*2220
. . . . . . g.37492
gaaagtgaaggtcgacccagggctgtaggaagccataggagagtgaccacgggattccct c.*2280
. . . . . . g.37552
gagaaacagggccggccccccaacttcagggacccaccgcccattccccgagagctgtcg c.*2340
. . . . . . g.37612
gaaccagatgcaacccggcagcccagagaactctcctgggaggctgtgggtgagccaggc c.*2400
. . . . . . g.37672
caacattggtgtccctgtccccagagggaggagcaggcaggagagagaggggaaggaggt c.*2460
. . . . . . g.37732
atgaatcccagtccccaggaacctagctctttaaactctggggagtcggattcaggaaac c.*2520
. . . . . . g.37792
acccccaggaggccaagcctgaaaacagaggggagggaggaaggaaggagtcccagcagg c.*2580
. . . . . . g.37852
agcacagccctggtttcctgtcactcagagctgattcacaggaggaggggaggttggggg c.*2640
. . . . . . g.37912
gcgggagacaaaaaccacacctctttttatataaggtttcatatttaatttggtcatgga c.*2700
. . g.37940
ttcataaatacataagtattttgtacac c.*2728
(downstream sequence)
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