(used for variant description)
(last modified December 10, 2012)
This file was created to facilitate the description of sequence variants on transcript NM_012414.3 in the RAB3GAP2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000001.10, covering RAB3GAP2 transcript NM_012414.3.
(upstream sequence)
. . . . g.5044
gcagtactcggagacagcggacccgtgtcagtgacagcttccgg c.-121
. . . . . . g.5104
tttggtttctccgccttctgcttggctagagctattggggctcggtggcggccgcagtgg c.-61
. . . . . . g.5164
ggtggagggggcagggcgtggtgaggtaaggtgagtgccgtagtggggttccctggagcc c.-1
. . . . . . g.5224
ATGGCCTGCTCCATTGTCCAGTTCTGCTACTTCCAGGACCTCCAGGCCGCCCGGGACTTC c.60
M A C S I V Q F C Y F Q D L Q A A R D F p.20
. . . . . | 02 . g.44643
CTCTTTCCTCACCTGCGGGAGGAGATCCTCAGCGGCGCCTTGCGGAGGGACCCCA | GTAAA c.120
L F P H L R E E I L S G A L R R D P S | K p.40
. . . . . . g.44703
TCAACAGACTGGGAAGATGATGGTTGGGGAGCATGGGAAGAAAATGAACCACAAGAACCT c.180
S T D W E D D G W G A W E E N E P Q E P p.60
| 03 . . . . . . g.63582
| GAAGAAGAAGGAAATACTTGCAAAACACAAAAAACTTCCTGGCTCCAAGATTGTGTTTTA c.240
| E E E G N T C K T Q K T S W L Q D C V L p.80
. . . . . . g.63642
TCCTTATCTCCAACCAATGATCTTATGGTGATAGCTCGAGAGCAAAAAGCTGTATTTCTA c.300
S L S P T N D L M V I A R E Q K A V F L p.100
| 04 . . . . . . g.64589
GTGC | CAAAATGGAAATATAGTGATAAAGGAAAGGAAGAAATGCAATTTGCTGTTGGCTGG c.360
V P | K W K Y S D K G K E E M Q F A V G W p.120
. . | 05 . . . . g.66533
AGTGGTTCCTTAAATGTCGAAGAAGG | GGAATGTGTAACCAGTGCTCTATGTATCCCACTA c.420
S G S L N V E E G | E C V T S A L C I P L p.140
. | 06 . . . . . g.66671
GCAAGCCAAAAGAG | GAGTTCCACTGGGCGTCCTGACTGGACCTGCATTGTGGTGGGTTTT c.480
A S Q K R | S S T G R P D W T C I V V G F p.160
. . . | 07 . . . g.67042
ACTTCAGGTTATGTACGCTTCTACACTGAG | AATGGTGTGCTCTTGCTTGCACAGCTTTTG c.540
T S G Y V R F Y T E | N G V L L L A Q L L p.180
. . . . . . g.67102
AATGAGGACCCAGTACTTCAACTTAAATGCAGAACCTATGAAATACCACGACATCCCGGC c.600
N E D P V L Q L K C R T Y E I P R H P G p.200
. | 08 . . . . . g.71543
GTGACTGAGCAG | AATGAAGAGTTGAGTATCTTATATCCAGCTGCCATTGTGACTATTGAT c.660
V T E Q | N E E L S I L Y P A A I V T I D p.220
. . . . . | 09 . g.75135
GGATTTAGCCTTTTTCAATCTCTTCGTGCTTGTCGAAATCAGGTAGCAAAAG | CTGCAGCA c.720
G F S L F Q S L R A C R N Q V A K A | A A p.240
. . . . . . g.75195
TCAGGCAATGAGAACATACAACCACCACCATTAGCTTATAAGAAATGGGGTCTACAAGAT c.780
S G N E N I Q P P P L A Y K K W G L Q D p.260
. . . | 10 . . . g.81132
ATTGACACTATTATTGATCATGCTAGTGTTG | GTATTATGACTCTGTCCCCCTTTGATCAA c.840
I D T I I D H A S V G | I M T L S P F D Q p.280
. . . . . . g.81192
ATGAAGACTGCCTCCAATATAGGTGGATTTAATGCAGCAATTAAAAATAGTCCACCTGCC c.900
M K T A S N I G G F N A A I K N S P P A p.300
. . . . . . g.81252
ATGTCTCAGTATATCACTGTAGGGTCCAATCCATTTACTGGCTTCTTCTATGCTTTAGAG c.960
M S Q Y I T V G S N P F T G F F Y A L E p.320
| 11 . . . . . . g.82184
| GGAAGCACACAACCATTATTATCCCATGTTGCACTAGCAGTTGCAAGTAAACTCACTTCT c.1020
| G S T Q P L L S H V A L A V A S K L T S p.340
. . | 12 . . . . g.82374
GCTTTATTTAATGCTGCCAG | TGGTTGGCTTGGTTGGAAAAGTAAGCACGAAGAAGAAGCT c.1080
A L F N A A S | G W L G W K S K H E E E A p.360
. . . . . | 13 . g.84132
GTCCAAAAGCAAAAGCCGAAGGTTGAGCCAGCTACCCCATTAGCTGTAAG | ATTTGGACTT c.1140
V Q K Q K P K V E P A T P L A V R | F G L p.380
. . . . . . g.84192
CCAGATTCTAGACGCCATGGTGAAAGCATATGTCTGTCTCCATGTAACACACTGGCAGCA c.1200
P D S R R H G E S I C L S P C N T L A A p.400
. . . . . . g.84252
GTAACAGATGATTTCGGCAGAGTTATTTTATTGGATGTAGCTAGAGGAATTGCAATACGC c.1260
V T D D F G R V I L L D V A R G I A I R p.420
. | 14 . . . . . g.86267
ATGTGGAAAG | GGTACCGCGACGCACAAATTGGATGGATTCAAACTGTAGAGGACCTCCAT c.1320
M W K G | Y R D A Q I G W I Q T V E D L H p.440
. . . . . . g.86327
GAAAGAGTGCCAGAAAAGGCAGATTTTTCCCCCTTTGGAAATTCTCAGGGTCCAAGTCGA c.1380
E R V P E K A D F S P F G N S Q G P S R p.460
. . . . . . g.86387
GTAGCTCAATTCCTTGTGATCTATGCGCCAAGAAGGGGAATTTTAGAAGTGTGGAGCACA c.1440
V A Q F L V I Y A P R R G I L E V W S T p.480
. . . . | 15. . g.86994
CAGCAGGGACCTAGAGTAGGAGCTTTCAATGTGGGGAAGCACTGCAG | GCTGCTGTATCCT c.1500
Q Q G P R V G A F N V G K H C R | L L Y P p.500
. . . . . . g.87054
GGCTATAAAATAATGGGTTTAAATAATGTTACCAGTCAGAGTTGGCAGCCACAGACTTAT c.1560
G Y K I M G L N N V T S Q S W Q P Q T Y p.520
. . . . . . g.87114
CAGATCTGTCTGGTTGATCCAGTGTCTGGAAGTGTGAAAACAGTGAACGTTCCCTTCCAT c.1620
Q I C L V D P V S G S V K T V N V P F H p.540
. | 16 . . . . . g.87404
TTAGCACTGAG | TGATAAGAAGAGTGAACGAGCCAAGGATATGCACCTAGTGAAGAAACTA c.1680
L A L S | D K K S E R A K D M H L V K K L p.560
. . . | 17 . . . g.87760
GCAGCCTTACTGAAAACAAAATCTCCCAATCTTG | ATTTGGTTGAAACAGAAATAAAGGAA c.1740
A A L L K T K S P N L D | L V E T E I K E p.580
. . . | 18 . . g.91781
TTAATTCTTGATATTAAATACCCTGCAACCAAAAAACAA | GCTTTGGAAAGCATTTTGGCA c.1800
L I L D I K Y P A T K K Q | A L E S I L A p.600
. . . . . . g.91841
AGTGAACGTTTACCATTTTCTTGCCTTAGAAACATCACTCAGACTTTAATGGACACTTTA c.1860
S E R L P F S C L R N I T Q T L M D T L p.620
. | 19 . . . . . g.93388
AAAAGTCAAG | AACTTGAGTCTGTTGATGAAGGATTGCTACAGTTTTGTGCCAATAAACTA c.1920
K S Q E | L E S V D E G L L Q F C A N K L p.640
. . . . . . g.93448
AAACTGCTGCAACTCTATGAGTCTGTCAGTCAATTAAATTCCCTTGATTTTCATTTAGAC c.1980
K L L Q L Y E S V S Q L N S L D F H L D p.660
. | 20 . . . . g.94612
ACACCATTCTCTGATAAT | GACTTGGCTCTGTTACTAAGGCTTGATGAAAAAGAACTGCTT c.2040
T P F S D N | D L A L L L R L D E K E L L p.680
. . . . . . g.94672
AAGCTCCAGGCATTACTAGAGAAATATAAGCAAGAGAACACCAGGACAAATGTTCGATTT c.2100
K L Q A L L E K Y K Q E N T R T N V R F p.700
. . . . . . g.94732
TCTGATGATAAAGATGGTGTGTTGCCTGTAAAAACATTCTTGGAATATTTAGAATATGAA c.2160
S D D K D G V L P V K T F L E Y L E Y E p.720
. . . . . | 21 . g.95155
AAGGATGTGCTCAACATAAAGAAAATAAGTGAAGAGGAATATGTGGCTTTAG | GTAGTTTC c.2220
K D V L N I K K I S E E E Y V A L G | S F p.740
. . . . . . g.95215
TTTTTTTGGAAGTGTTTGCATGGAGAAAGCTCCACTGAGGATATGTGTCACACTTTGGAG c.2280
F F W K C L H G E S S T E D M C H T L E p.760
. . . | 22 . . . g.104789
TCGGCTGGTCTTAGCCCTCAGCTGTTGTTG | TCTCTGCTCCTGAGTGTTTGGCTTTCAAAG c.2340
S A G L S P Q L L L | S L L L S V W L S K p.780
. . . . . . g.104849
GAAAAGGATATTTTGGATAAACCACAGTCAATCTGCTGTCTTCATACCATGCTGTCCCTC c.2400
E K D I L D K P Q S I C C L H T M L S L p.800
. | 23 . . . . . g.105496
CTGAGCAAGATGAAAG | TGGCCATCGATGAGACCTGGGATTCTCAGTCTGTGTCCCCATGG c.2460
L S K M K V | A I D E T W D S Q S V S P W p.820
. . . . . . g.105556
TGGCAGCAGATGCGCACAGCCTGTATTCAGTCTGAGAACAATGGAGCCGCTCTGTTGTCT c.2520
W Q Q M R T A C I Q S E N N G A A L L S p.840
. . . . . | 24. g.106384
GCGCATGTTGGGCATTCTGTTGCTGCACAGATATCAAACAACATGACAGAGAAAAAA | TTT c.2580
A H V G H S V A A Q I S N N M T E K K | F p.860
. . . . . . g.106444
TCCCAAACAGTTTTGGGTGCTGATTCAGAGGCCCTCACTGATTCCTGGGAGGCACTTTCT c.2640
S Q T V L G A D S E A L T D S W E A L S p.880
. . . . . . g.106504
CTTGACACTGAGTACTGGAAACTCCTTCTGAAACAGCTGGAGGATTGTCTCATACTTCAG c.2700
L D T E Y W K L L L K Q L E D C L I L Q p.900
. . . . . . g.106564
ACTCTGCTTCACAGCAAAGGGAACACTCAGACCTCCAAAGTGTCATCACTGCAGGCTGAG c.2760
T L L H S K G N T Q T S K V S S L Q A E p.920
. . . . | 25 . . g.109840
CCACTTCCAAGGCTTTCTGTTAAAAAGTTATTAGAAGGAGGAAAAG | GTGGCATTGCAGAC c.2820
P L P R L S V K K L L E G G K G | G I A D p.940
. . . . . . g.109900
AGTGTAGCCAAGTGGATATTTAAACAGGACTTCAGCCCTGAAGTATTAAAACTGGCTAAT c.2880
S V A K W I F K Q D F S P E V L K L A N p.960
. . . . . . g.109960
GAAGAAAGAGATGCAGAAAACCCAGATGAACCCAAAGAAGGTGTTAACAGAAGTTTCCTT c.2940
E E R D A E N P D E P K E G V N R S F L p.980
. . . . | 26 . . g.110122
GAGGTATCAGAGATGGAGATGGACTTAGGAGCCATACCAG | ACTTACTGCATTTAGCCTAT c.3000
E V S E M E M D L G A I P D | L L H L A Y p.1000
. . . . . . g.110182
GAGCAGTTTCCTTGTAGCCTTGAGCTCGATGTCTTGCATGCACATTGCTGCTGGGAGTAC c.3060
E Q F P C S L E L D V L H A H C C W E Y p.1020
. . | 27. . . . g.112735
GTTGTTCAGTGGAATAAAGATCCAGAG | GAAGCACGTTTTTTTGTTAGGTCAATAGAACAC c.3120
V V Q W N K D P E | E A R F F V R S I E H p.1040
. . . | 28 . . . g.115259
TTGAAGCAAATATTTAATGCACATGTTCAAAATG | GCATTGCACTGATGATGTGGAATACG c.3180
L K Q I F N A H V Q N G | I A L M M W N T p.1060
. . . . | 29 . . g.118095
TTCTTAGTTAAAAGATTTTCTGCTGCTACATACTTAATGGATAAG | GTTGGAAAATCACCA c.3240
F L V K R F S A A T Y L M D K | V G K S P p.1080
. . | 30 . . . . g.119664
AAAGATAGGTTATGCCGAAGG | GATGTGGGAATGAGTGACACAGCAATGACATCTTTCCTC c.3300
K D R L C R R | D V G M S D T A M T S F L p.1100
. . . | 31 . . . g.120037
GGCTCCTGTTTGGATCTTCTTCAGATCTTAATGGAG | GCAGATGTTAGCAGGGATGAAATA c.3360
G S C L D L L Q I L M E | A D V S R D E I p.1120
. . . . . . g.120097
CAGGTGCCTGTGCTGGATACTGAGGATGCGTGGCTCTCCGTGGAAGGACCAATCTCCATA c.3420
Q V P V L D T E D A W L S V E G P I S I p.1140
. . . . . . g.120157
GTGGAACTGGCCCTTGAACAGAAGCACATCCACTACCCACTGGTGGAGCACCACTCCATC c.3480
V E L A L E Q K H I H Y P L V E H H S I p.1160
. . . . . . g.120217
CTGTGCTCCATCTTGTATGCAGTCATGAGGTTTTCTCTGAAGACCGTGAAGCCACTTTCA c.3540
L C S I L Y A V M R F S L K T V K P L S p.1180
. | 32 . . . . . g.123489
CTTTTTGACAGTAAG | GGAAAAAATGCATTTTTCAAAGACCTAACTTCAATTCAGTTATTA c.3600
L F D S K | G K N A F F K D L T S I Q L L p.1200
. . . . | 33 . . g.124110
CCTAGTGGGGAAATGGATCCAAATTTTATTTCTGTACGACAACAG | TTCTTATTGAAAGTT c.3660
P S G E M D P N F I S V R Q Q | F L L K V p.1220
. . . . . . g.124170
GTCAGTGCAGCTGTCCAGGCCCAACATTCAGCCACAAAGGTCAAAGATCCCACAGAAGAG c.3720
V S A A V Q A Q H S A T K V K D P T E E p.1240
. . . . . . g.124230
GCCACACCCACTCCTTTTGGGAAAGACCAAGATTGGCCAGCTCTAGCTGTGGATTTAGCC c.3780
A T P T P F G K D Q D W P A L A V D L A p.1260
. . . . . . g.124290
CATCACCTTCAAGTTAGTGAAGATGTTGTTAGAAGGCATTATGTGGGGGAACTATACAAC c.3840
H H L Q V S E D V V R R H Y V G E L Y N p.1280
. . | 34. . . . g.125770
TATGGAGTTGACCACTTAGGAGAAGAG | GCCATTCTACAGGTTCATGACAAAGAGGTCCTT c.3900
Y G V D H L G E E | A I L Q V H D K E V L p.1300
. . . . . . g.125830
GCCTCTCAGCTGCTGGTGCTCACGGGGCAAAGGCTGGCTCATGCGCTTCTCCACACCCAG c.3960
A S Q L L V L T G Q R L A H A L L H T Q p.1320
. . . . . . g.125890
ACAAAAGAAGGAATGGAGCTGCTTGCCAGACTTCCACCCACACTGTGTACTTGGCTGAAA c.4020
T K E G M E L L A R L P P T L C T W L K p.1340
| 35 . . . . . . g.126149
GCAATG | GACCCCCAGGACCTTCAAAACACTGAAGTGCCAATTGCAACAACAGCTAAACTA c.4080
A M | D P Q D L Q N T E V P I A T T A K L p.1360
. . . . . . g.126209
GTAAATAAAGTAATTGAGCTTTTACCAGAAAAACATGGGCAATATGGTCTAGCCTTACAC c.4140
V N K V I E L L P E K H G Q Y G L A L H p.1380
. . . . g.126251
CTCATTGAAGCTGTGGAAGCCATATCTCTTCCTTCTTTATGA c.4182
L I E A V E A I S L P S L X p.1393
. . . . . . g.126311
cacttacctactggaaatagtctaaaattatgattataacatgaagtagtgcatggttat c.*60
. . . . . . g.126371
tttacatagtaagacctggaattttatgggaaaagtatgtctttttttttccttttgtaa c.*120
. . . . . . g.126431
aataaataaaagtatatacaacttttaaaaagtgcaaccctggctaaattccactccttt c.*180
. . . . . . g.126491
ggttaatactgaagataaaatataaacaaatgtcaactctgttataattaatacagatgt c.*240
. . . . . . g.126551
tttactgtttatttctaattcaaacacttaagtagctttattgttaaactttgctattta c.*300
. . . . . . g.126611
aaattggttataatttagattatgttcttataagattctatatttcctatctaaaatgtt c.*360
. . . . . . g.126671
gttgtaattcaatttaaatgtgttcatgtacagtccccatcagtagcgtatagaacaccc c.*420
. . . . . . g.126731
cactctcctttagtaaatgttgagaaaatgcctttgttgtcatgctccaaatcccacact c.*480
. . . . . . g.126791
gggctgccacctgggagttctggataccgaaaggttcctttcccagaggttctgctgttg c.*540
. . . . . . g.126851
ccatcagaggaggatgaccgtgcttgaggaggaagaatgggttcaagatcatcatattca c.*600
. . . . . . g.126911
tcagaaggggacactaaatagaacccttaacctgttgtacttgccaaaattgagaatcag c.*660
. . . . . . g.126971
agatgtgtaaaatgcagcaaattaattataatgtaagttaagatttgctttttgccaagt c.*720
. . . . . . g.127031
tgcaaagttgtatccacatcaggtcactgtaaaaatgtattatcttgtaaaacttatgta c.*780
. . . . . . g.127091
aaaaaaaaaaaaaaaaaaaggcaaagatactaaaaattttaagtccgactttatttttcc c.*840
. . . . . . g.127151
tacaagtgtttagaaatgcttctgggatttgctaatattatctgtccttgggaacagtat c.*900
. . . . . . g.127211
tgaaaaaactgcttagtggtattacagctttagcaaacctacctcacagctgggatgaga c.*960
. . . . . . g.127271
ggataaaatacaactaattttgtaccctatagtgcctagagcagtccaagtgctaaataa c.*1020
. . . . . . g.127331
atatttactgattaaaaccaaactatagctactcgggaggctggaggaggatcgcttgag c.*1080
. . . . . . g.127391
cccaggagtttgaggccattctgggcaatatagcaagaccctgtctcgaaaaaaaaaaaa c.*1140
. . . . . . g.127451
aaaagaaaaaaccaaactaaccaaaactctgtaaaagagtgctttgagctctacaaatac c.*1200
. . . . . . g.127511
caagtatttattgtggtatatttttagaatgtagccatacagtgtaattatgggtatctg c.*1260
. . . . . . g.127571
tcatggatcacaattattattcatagtaagtcattgtgatacagaagtttgtttcttcac c.*1320
. . . . . . g.127631
ttccccttaagaagccaactatagtaatcatgcaaagttgaggagtatgtccttcaggga c.*1380
. . . . . . g.127691
tataaaaagaaaaacaaatctgttttttgagctaaaagagcacatccaaacaagaattta c.*1440
. . . . . . g.127751
actggctaaaatttagtaattactgttaagtaactatcaaacttgaaatcttacaagata c.*1500
. . . . . . g.127811
aatggttaagatgtcttgagtatttgggatgggggcctgtgagtctgattgagacataca c.*1560
. . . . . . g.127871
ttttacagagtagcagcactggaaagggctagtccaacctcccagcctctgcttgggtct c.*1620
. . . . . . g.127931
ccgctgccccagccacacacatcctagaattcttgtaaacatatctggctctgtgttaac c.*1680
. . . . . . g.127991
agtcacttgttatatgttttctaagagattagttcttcctgtgatttttccaagtacgct c.*1740
. . . . . . g.128051
gaaagtagtagtatgaacttaaggaggctagtcaaagaaacttggagttataggtatttt c.*1800
. . . . . . g.128111
taaagaataaatcctcaattccatcatcacttggcggggagggggcacttattaagcatt c.*1860
. . . . . . g.128171
ttagataataaaactggttaagcttactctggtagaacagacaatcaaatctggggattg c.*1920
. . . . . . g.128231
ctgagaacaataataagctgaagtatggctcacagaatcctaacacaaatcattaagtct c.*1980
. . . . . . g.128291
ctagttagatttgttatcctaaaatttttcatagaattttaaaatctaattctgacttgt c.*2040
. . . . . . g.128351
atggttaagaaaagcagttaaatattttactacttatcaagggcttttaaaataaataaa c.*2100
. . . . . . g.128411
tctgattgataggaagaaaggcaaataaatacctatgtagacattctataataacaaaga c.*2160
. . . . . . g.128471
gccatagatgataaaggaattagattttaatgtagaatgggtggtttctgaaacaaaggt c.*2220
. . . . . . g.128531
atgtggtactttgtagttattgatgagaagccagtaaccagtagtgttttcctagatata c.*2280
. . . . . . g.128591
tgcccaccctcacacaactttcttcattaacaaacattaaatatgcatttgtatcttatt c.*2340
. . . . . . g.128651
aaattatattgtataatgctgaaggaaaacaaaaagtgttcaaataatcataacttctac c.*2400
. . . . . . g.128711
attacaggttctgtttagatgcagaactagaggggccagggtaaatgtagataaagagat c.*2460
. . . . . . g.128771
atatagcaccatgcttcttaatgcttcatacttttgcaaacagaaaaaaaaagttttact c.*2520
. . . . . . g.128831
tttattataaaacttcatctatggtcaaagtaaacactgttacatttaaattgcttttta c.*2580
. . . . . . g.128891
aaaacaattgcgatctaaaaagtcaaaaatctgaaatttaataatatgagacttacactg c.*2640
. . . . . . g.128951
aatataatgttcatttagaagttgctgtggtccacttcatttataaggaacaaatatttt c.*2700
. . . . . . g.129011
tacagtacactatagcaacagcaaaagccctctctcaccctgataggaatgggtttgctg c.*2760
. . . . . . g.129071
ggtgtctagaagttagattcctgctgaatagaattagccatccttaaaagattttaatcc c.*2820
. . . . . . g.129131
aatactgaactgtttataaaatgctttctctattgtaatgtactgtaagtagtgaaattc c.*2880
. . . . . . g.129191
tgtatatactgctattttctgtctgttcattgttgtgaacttcttatgtatattagtgaa c.*2940
. . . . g.129234
ataaattttcagctttcatgttgtttcctaaacattcataagt c.*2983
(downstream sequence)
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