(used for variant description)
(last modified December 19, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_014247.2 in the RAPGEF2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_063926.1, covering RAPGEF2 transcript NM_014247.2.
(upstream sequence)
. g.5010
aaatgatctt c.-301
. . . . . . g.5070
gttctcttggaagactgagagctgtgtgaggttttctcagtcttgtcatagcctaggatg c.-241
. . . . . . g.5130
gttagagtttcaatgttataaaaatggagacgaacactgttgttcggattccttttctgg c.-181
. . . . . . g.5190
tctacaagtgtgaagggtttttaagcttaccagtagtgacactttaagctgcagcttggt c.-121
. . . . . . g.5250
tttccctcctccctttttttttttcctttttcttttaatttaatgctgtagagggtgact c.-61
. . . . . . g.5310
tgccatcgtgagagattggtacatgatgtgtaaattcagttcagcatatgtttcttcatt c.-1
. . . . . . g.5370
ATGAAACCACTAGCAATCCCAGCTAACCATGGAGTTATGGGCCAGCAGGAGAAACACTCA c.60
M K P L A I P A N H G V M G Q Q E K H S p.20
| 02 . . . . . . g.41556
| CTTCCTGCAGATTTCACAAAACTGCATCTTACTGACAGTCTCCACCCACAGGTGACCCAC c.120
| L P A D F T K L H L T D S L H P Q V T H p.40
. . . . . . g.41616
GTTTCTTCTAGCCATTCAGGATGTAGTATCACTAGTGATTCTGGGAGCAGCAGTCTTTCT c.180
V S S S H S G C S I T S D S G S S S L S p.60
. | 03 . . . . . g.51793
GATATCTACCAG | GCCACAGAAAGCGAGGCTGGTGATATGGACCTGAGTGGGTTGCCAGAA c.240
D I Y Q | A T E S E A G D M D L S G L P E p.80
. . . . . . g.51853
ACAGCAGTGGATTCCGAAGACGACGACGATGAAGAAGACATTGAGAGAGCATCAGATCCT c.300
T A V D S E D D D D E E D I E R A S D P p.100
. . . . . . g.51913
CTGATGAGCAGGGACATTGTGAGAGACTGCCTAGAGAAGGACCCAATTGACCGGACAGAT c.360
L M S R D I V R D C L E K D P I D R T D p.120
. | 04 . . . . . g.59551
GATGACATTG | AACAACTCTTGGAATTTATGCACCAGTTGCCTGCTTTTGCCAATATGACA c.420
D D I E | Q L L E F M H Q L P A F A N M T p.140
. . . . . . g.59611
ATGTCAGTGAGGCGAGAACTCTGTGCTGTGATGGTGTTCGCAGTGGTGGAAAGAGCAGGG c.480
M S V R R E L C A V M V F A V V E R A G p.160
. . | 05. . . . g.60646
ACCATAGTGTTAAATGATGGTGAAGAG | CTGGACTCCTGGTCAGTGATTCTCAATGGATCT c.540
T I V L N D G E E | L D S W S V I L N G S p.180
. . . . . . g.60706
GTGGAAGTGACTTATCCAGATGGAAAAGCAGAAATACTGTGCATGGGAAATAGTTTTGGT c.600
V E V T Y P D G K A E I L C M G N S F G p.200
. . . . . . g.60766
GTCTCTCCTACCATGGACAAAGAATACATGAAAGGAGTGATGAGAACAAAGGTGGATGAC c.660
V S P T M D K E Y M K G V M R T K V D D p.220
| 06 . . . . . . g.67066
TGCCAG | TTTGTCTGCATAGCCCAGCAAGATTACTGCCGTATTCTCAATCAAGTAGAAAAG c.720
C Q | F V C I A Q Q D Y C R I L N Q V E K p.240
. . . . . . g.67126
AACATGCAAAAAGTTGAAGAGGAAGGAGAGATTGTTATGGTGAAAGAACACCGAGAACTT c.780
N M Q K V E E E G E I V M V K E H R E L p.260
. . . | 07 . . g.67509
GATCGAACTGGAACAAGAAAGGGACACATTGTCATCAAG | GGTACCTCAGAAAGGTTAACA c.840
D R T G T R K G H I V I K | G T S E R L T p.280
. . . . . . g.67569
ATGCATTTGGTGGAAGAGCATTCAGTAGTAGATCCAACATTCATAGAAGACTTTCTGTTG c.900
M H L V E E H S V V D P T F I E D F L L p.300
. . . . . . g.67629
ACCTATAGGACTTTTCTTTCTAGCCCAATGGAAGTGGGCAAAAAGTTATTGGAGTGGTTT c.960
T Y R T F L S S P M E V G K K L L E W F p.320
. . | 08 . . . . g.68621
AATGACCCGAGCCTCAGGGATAAG | GTTACACGGGTAGTATTATTGTGGGTAAATAATCAC c.1020
N D P S L R D K | V T R V V L L W V N N H p.340
. . . . . . g.68681
TTCAATGACTTTGAAGGAGATCCTGCAATGACTCGATTTTTAGAAGAATTTGAAAACAAT c.1080
F N D F E G D P A M T R F L E E F E N N p.360
. | 09 . . . . . g.68832
CTGGAAAGAGAG | AAAATGGGTGGACACCTAAGGCTGTTGAATATCGCGTGTGCTGCTAAA c.1140
L E R E | K M G G H L R L L N I A C A A K p.380
. . . . . . g.68892
GCAAAAAGAAGATTGATGACGTTAACAAAACCATCCCGAGAAGCTCCTTTGCCTTTTATC c.1200
A K R R L M T L T K P S R E A P L P F I p.400
. . . . . . g.68952
TTACTTGGAGGCTCTGAGAAGGGATTTGGAATCTTTGTTGACAGTGTAGATTCAGGTAGC c.1260
L L G G S E K G F G I F V D S V D S G S p.420
. . . | 10 . . . g.69104
AAAGCAACTGAAGCAGGCTTGAAACGGGGGGATCAG | ATATTAGAAGTAAATGGCCAAAAC c.1320
K A T E A G L K R G D Q | I L E V N G Q N p.440
. . . . . . g.69164
TTTGAAAACATTCAGCTGTCAAAAGCTATGGAAATTCTTAGAAATAACACACATTTATCT c.1380
F E N I Q L S K A M E I L R N N T H L S p.460
. . | 11 . . . . g.69640
ATCACTGTGAAAACCAATTTATTTG | TATTTAAAGAACTTCTAACAAGATTGTCAGAAGAG c.1440
I T V K T N L F V | F K E L L T R L S E E p.480
. . . . . . g.69700
AAAAGAAATGGTGCCCCCCACCTTCCTAAAATTGGTGACATTAAAAAGGCCAGTCGCTAC c.1500
K R N G A P H L P K I G D I K K A S R Y p.500
. . . . . . g.69760
TCCATTCCAGATCTTGCTGTAGATGTAGAACAGGTGATAGGACTTGAAAAAGTGAACAAA c.1560
S I P D L A V D V E Q V I G L E K V N K p.520
. . . . . . g.69820
AAAAGTAAAGCCAACACTGTGGGAGGAAGGAACAAGCTGAAAAAGATACTCGACAAGACT c.1620
K S K A N T V G G R N K L K K I L D K T p.540
. . . | 12 . . . g.75493
CGGATCAGTATCTTGCCACAGAAACCATACAA | TGATATTGGGATTGGTCAGTCTCAAGAT c.1680
R I S I L P Q K P Y N | D I G I G Q S Q D p.560
. . . . . . g.75553
GACAGCATAGTAGGATTAAGGCAGACAAAGCACATCCCAACTGCATTGCCTGTCAGTGGA c.1740
D S I V G L R Q T K H I P T A L P V S G p.580
. . . . . . g.75613
ACCTTATCATCCAGTAATCCTGATTTATTGCAGTCACATCATCGCATTTTAGACTTCAGT c.1800
T L S S S N P D L L Q S H H R I L D F S p.600
. | 13 . . . . . g.76318
GCTACTCCTG | ACTTGCCAGATCAAGTGCTAAGGGTTTTTAAGGCTGATCAGCAAAGCCGC c.1860
A T P D | L P D Q V L R V F K A D Q Q S R p.620
. . . . . . g.76378
TACATCATGATCAGTAAGGACACTACAGCAAAGGAAGTGGTCATTCAGGCTATCAGGGAG c.1920
Y I M I S K D T T A K E V V I Q A I R E p.640
. . . . . . g.76438
TTTGCTGTTACTGCCACCCCGGATCAATATTCACTATGTGAGGTCTCTGTCACACCTGAG c.1980
F A V T A T P D Q Y S L C E V S V T P E p.660
. . . . . . g.76498
GGAGTAATCAAACAAAGAAGACTTCCAGATCAGCTTTCCAAACTTGCAGACAGAATACAA c.2040
G V I K Q R R L P D Q L S K L A D R I Q p.680
. | 14 . . . . . g.78767
CTGAGTGGAAG | GTATTATCTGAAAAACAACATGGAAACAGAAACTCTTTGTTCAGATGAA c.2100
L S G R | Y Y L K N N M E T E T L C S D E p.700
. . . . . . g.78827
GATGCTCAGGAGTTGTTGAGAGAGAGTCAAATTTCCCTCCTTCAGCTCAGCACTGTGGAA c.2160
D A Q E L L R E S Q I S L L Q L S T V E p.720
. . . . . . g.78887
GTTGCAACACAGCTCTCTATGCGAAATTTTGAACTCTTTCGCAACATTGAACCTACTGAA c.2220
V A T Q L S M R N F E L F R N I E P T E p.740
. . . . . . g.78947
TATATAGATGATTTATTTAAACTCAGATCAAAAACCAGCTGTGCCAACCTGAAGAGATTT c.2280
Y I D D L F K L R S K T S C A N L K R F p.760
. . . . . . g.79007
GAAGAAGTCATTAACCAGGAAACATTTTGGGTAGCATCTGAAATTCTCAGAGAAACAAAC c.2340
E E V I N Q E T F W V A S E I L R E T N p.780
. . . . . . g.79067
CAGCTGAAGAGGATGAAGATCATTAAGCATTTCATCAAGATAGCACTGCACTGTAGGGAA c.2400
Q L K R M K I I K H F I K I A L H C R E p.800
. . . | 15 . . . g.80158
TGCAAGAATTTTAACTCAATGTTTGCAATCATCAG | TGGCCTAAACCTGGCACCAGTGGCA c.2460
C K N F N S M F A I I S | G L N L A P V A p.820
. . . . . . g.80218
AGACTGCGAACGACCTGGGAGAAACTTCCCAATAAATACGAAAAACTATTTCAAGATCTC c.2520
R L R T T W E K L P N K Y E K L F Q D L p.840
. . . . . . g.80278
CAAGACCTGTTTGATCCTTCCAGAAACATGGCAAAATATCGTAATGTTCTCAATAGTCAA c.2580
Q D L F D P S R N M A K Y R N V L N S Q p.860
. . . . . . g.80338
AATCTACAACCTCCCATAATCCCTCTATTCCCAGTTATCAAAAAGGATCTCACCTTCCTT c.2640
N L Q P P I I P L F P V I K K D L T F L p.880
| 16. . . . . . g.80488
CACGAAG | GAAATGACTCAAAAGTAGACGGGCTGGTCAATTTTGAGAAGCTAAGGATGATT c.2700
H E G | N D S K V D G L V N F E K L R M I p.900
. . . . . . g.80548
GCAAAAGAAATTCGTCACGTTGGCCGAATGGCTTCAGTGAACATGGACCCTGCCCTCATG c.2760
A K E I R H V G R M A S V N M D P A L M p.920
. | 17 . . | 18 . . . g.82285
TTCAGGACTCG | GAAGAAGAAATGGCGGAGTTTGGG | GTCTCTCAGCCAGGGTAGTACAAAT c.2820
F R T R | K K K W R S L G | S L S Q G S T N p.940
. . . . . . g.82345
GCAACAGTGCTAGATGTTGCTCAGACAGGTGGTCATAAAAAGCGGGTACGTCGTAGTTCC c.2880
A T V L D V A Q T G G H K K R V R R S S p.960
. . . . . . g.82405
TTTCTCAATGCCAAAAAGCTTTATGAAGATGCCCAAATGGCTCGAAAAGTGAAGCAGTAC c.2940
F L N A K K L Y E D A Q M A R K V K Q Y p.980
. . . . . . g.82465
CTTTCCAATTTGGAGCTAGAAATGGACGAGGAGAGTCTTCAGACATTATCTCTGCAGTGT c.3000
L S N L E L E M D E E S L Q T L S L Q C p.1000
. | 19 . . . . g.83984
GAGCCAGCAACCAACACAT | TGCCTAAGAATCCTGGTGACAAAAAGCCTGTCAAATCCGAG c.3060
E P A T N T L | P K N P G D K K P V K S E p.1020
. . . . . . g.84044
ACCTCTCCAGTAGCTCCAAGGGCAGGGTCACAACAGAAAGCTCAGTCCCTGCCACAGCCC c.3120
T S P V A P R A G S Q Q K A Q S L P Q P p.1040
. . . . . . g.84104
CAGCAGCAGCCACCACCAGCACATAAAATCAACCAGGGACTACAGGTTCCCGCCGTGTCC c.3180
Q Q Q P P P A H K I N Q G L Q V P A V S p.1060
. . . . | 20 . g.87302
CTTTATCCTTCACGGAAGAAAGTGCCCGTAAAGGATCTCCCACCTTTTG | GCATAAACTCT c.3240
L Y P S R K K V P V K D L P P F G | I N S p.1080
. . . . . . g.87362
CCACAAGCTTTAAAAAAAATTCTTTCTTTGTCTGAAGAAGGAAGTTTGGAACGTCACAAG c.3300
P Q A L K K I L S L S E E G S L E R H K p.1100
. . . . . . g.87422
AAACAGGCTGAAGATACAATATCAAATGCATCTTCGCAGCTTTCTTCTCCTCCTACTTCT c.3360
K Q A E D T I S N A S S Q L S S P P T S p.1120
. . | 21 . . . . g.89877
CCACAGAGTTCTCCAAGGAAAG | GCTATACTTTGGCTCCCAGTGGTACTGTGGATAATTTT c.3420
P Q S S P R K G | Y T L A P S G T V D N F p.1140
. . . . . . g.89937
TCAGATTCTGGTCACAGTGAAATTTCTTCACGATCCAGTATTGTTAGCAATTCGTCTTTT c.3480
S D S G H S E I S S R S S I V S N S S F p.1160
. . . . . . g.89997
GACTCAGTGCCAGTCTCACTGCACGATGAGAGGCGCCAGAGGCATTCTGTCAGCATCGTG c.3540
D S V P V S L H D E R R Q R H S V S I V p.1180
. . . . . . g.90057
GAAACAAACCTAGGGATGGGCAGGATGGAGAGGCGGACCATGATTGAACCTGATCAGTAT c.3600
E T N L G M G R M E R R T M I E P D Q Y p.1200
| 22 . . . . . g.90693
AGCTTGGG | GTCCTATGCACCAATGTCCGAGGGCCGAGGCTTATATGCTACAGCTACAGTA c.3660
S L G | S Y A P M S E G R G L Y A T A T V p.1220
. . . . . . g.90753
ATTTCTTCTCCAAGCACAGAGGAACTTTCCCAGGATCAGGGGGATCGCGCGTCACTTGAT c.3720
I S S P S T E E L S Q D Q G D R A S L D p.1240
. . . . . . g.90813
GCTGCTGACAGTGGCCGTGGGAGCTGGACGTCATGCTCAAGTGGCTCCCATGATAATATA c.3780
A A D S G R G S W T S C S S G S H D N I p.1260
. . . . . . g.90873
CAGACGATCCAGCACCAGAGAAGCTGGGAGACTCTTCCATTCGGGCATACTCACTTTGAT c.3840
Q T I Q H Q R S W E T L P F G H T H F D p.1280
. . . . . . g.90933
TATTCAGGGGATCCTGCAGGTTTATGGGCATCAAGCAGCCATATGGACCAAATTATGTTT c.3900
Y S G D P A G L W A S S S H M D Q I M F p.1300
. . . . . . g.90993
TCTGATCATAGCACAAAGTATAACAGGCAAAATCAAAGTAGAGAGAGCCTTGAACAAGCC c.3960
S D H S T K Y N R Q N Q S R E S L E Q A p.1320
. . . . . . g.91053
CAGTCCCGAGCAAGCTGGGCGTCTTCCACAGGTTACTGGGGAGAAGACTCAGAAGGTGAC c.4020
Q S R A S W A S S T G Y W G E D S E G D p.1340
. . . . . . g.91113
ACAGGCACAATAAAGCGGAGGGGTGGAAAGGATGTTTCCATTGAAGCCGAAAGCAGTAGC c.4080
T G T I K R R G G K D V S I E A E S S S p.1360
. . . . . . g.91173
CTAACGTCTGTGACTACGGAAGAAACCAAGCCTGTCCCCATGCCTGCCCACATAGCTGTG c.4140
L T S V T T E E T K P V P M P A H I A V p.1380
. . | 23 . . . g.93039
GCATCAAGTACTACAAAGGGGCTCATTG | CACGAAAGGAGGGCAGGTATCGAGAGCCCCCG c.4200
A S S T T K G L I A | R K E G R Y R E P P p.1400
. . . . . . g.93099
CCCACCCCTCCCGGCTACATTGGAATTCCCATTACTGACTTTCCAGAAGGGCACTCCCAT c.4260
P T P P G Y I G I P I T D F P E G H S H p.1420
. . . . . . g.93159
CCAGCCAGGAAACCGCCGGACTACAACGTGGCCCTTCAGAGATCGCGGATGGTCGCACGA c.4320
P A R K P P D Y N V A L Q R S R M V A R p.1440
. . . . . . g.93219
TCCTCCGACACAGCTGGGCCTTCATCCGTACAGCAGCCACATGGGCATCCCACCAGCAGC c.4380
S S D T A G P S S V Q Q P H G H P T S S p.1460
. . . . . . g.93279
AGGCCTGTGAACAAACCTCAGTGGCATAAACCGAACGAGTCTGACCCGCGCCTCGCCCCC c.4440
R P V N K P Q W H K P N E S D P R L A P p.1480
. . . | 24 . . . g.95294
TATCAGTCCCAAGGGTTTTCCACCGAGGAGGATG | AAGATGAACAAGTTTCTGCTGTTTGA c.4500
Y Q S Q G F S T E E D E | D E Q V S A V X p.1499
. . . . . . g.95354
ggcacagacttttctggaagcagagcgagccacctgaaaggagagcacaagaagacgtcc c.*60
. . . . . . g.95414
tgagcattggagccttggaactcacattctgaggacggtggaccagtttgcctccttccc c.*120
. . . . . . g.95474
tgccttaaaagcagcatggggcttcttctccccttcttcctttcccctttgcatgtgaaa c.*180
. . . . . . g.95534
tactgtgaagaaattgccctggcacttttcagactttgttgcttgaaatgcacagtgcag c.*240
. . . . . . g.95594
caatcttcgagctcccactgttgctgcctgccacatcacacagtatcattccaaattcca c.*300
. . . . . . g.95654
agatcatcacaacaagatgattcactctggctgcacttctcaatgcctggaaggattttt c.*360
. . . . . . g.95714
tttaatcttccttttagatttcaatccagtcctagcacttgatctcattgggataatgag c.*420
. . . . . . g.95774
aaaagctagccattgaactacttggggcctttaacccaccaaggaagacaaagaaaaaca c.*480
. . . . . . g.95834
atgaaatcctttgagtacagtgcttgtccacttgtttacaatgtcctccttttaaaaaaa c.*540
. . . . . . g.95894
aaaaatgagtttaaagattttgttcagagagtaaatatatatccatttaatgattacagt c.*600
. . . . . . g.95954
attattttaaaccttaagtagggttgccagcctggtttctgaaaaaccaaatatgccgga c.*660
. . . . . . g.96014
cagggtgtggccacaccaagaagacgggaagacctggcttgtgaccctggcttcccatgt c.*720
. . . . . . g.96074
ccttctggtctcacccgcgaagtgccctatcctggaagtatgaaatgttagccaattaat c.*780
. . . . . . g.96134
accaagacacctcatctgctccttccccagtggatggggttcttctgtaaaactgtttgc c.*840
. . . . . . g.96194
acatggccaggggagggaactaggacccttgtgtcctgtctgagccttatggaggcagga c.*900
. . . . . . g.96254
cggtgtcattggcggatgtgtcctgctccattgagatggatggcaaaccccatttttaag c.*960
. . . . . . g.96314
ttatatttctttgatttttgttaatttagaggtgtaggttttgttttttgtttttttgtt c.*1020
. . . . . . g.96374
tttttttaagagaaacatttataactggatagcattgcagtgaaagcagcttgggatgtt c.*1080
. . . . . . g.96434
ggagctaatgccagctgtttatactgctctttcaagacagcctccctttattgaattggc c.*1140
. . . . . . g.96494
attagggaataaacaagcctttaaacgtgataaaagatcaaaaacctggttagacatgcc c.*1200
. . . . . . g.96554
agcctttgcaaggcaggttagtcaccaaagactaacctccaagtggctttatggacgctg c.*1260
. . . . . . g.96614
catatagagaaggcctaagtgtagcaaccatctgctcacagctgctattaaccctataat c.*1320
. . . . . . g.96674
gactgaaatgacccctccactctatttttgtgttgttttgcacagactccggaaaagtga c.*1380
. . . . . . g.96734
aggctgccaatctgagtagtactcaaatgtgaggaactgctggtcttggattttttttcc c.*1440
. . . . . . g.96794
attaaattcagctgatcatattgatcagtagataaacgtaaatagcttcaaattttaaaa c.*1500
. . . . . . g.96854
gtggaattgcagtgttttttcactgtatcaaacaatgtcagtgctttatttaataattct c.*1560
. . . . . . g.96914
cttctgtatcatggcatttgtctacttgcttattacattgtcaattatgcatttgtaatt c.*1620
. . . . . . g.96974
ttacatgtaatatgcattatttgccagttttattatataggctatggacctcatgtgcat c.*1680
. . . . . . g.97034
atagaaagacagaaatctagctctaccacaagttgcacaaatgttatctaagcattaagt c.*1740
. . . . . . g.97094
aattgtagaacataggactgctaatctcagttcgctctgtgatgtcaagtgcagaatgta c.*1800
. . . . . . g.97154
caattaactggtgatttcctcatacttttgatactacttgtacctgtatgtcttttagaa c.*1860
. . . . . . g.97214
agacattggtggagtctgtatcccttttgtatttttaatacaataattgtacatattggt c.*1920
. . . . . . g.97274
tatatttttgttgaagatggtagaaatgtactatgtttatgcttctacatccagtttgta c.*1980
. . . g.97305
caagctggaaaataaataaatataacataaa c.*2011
(downstream sequence)
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