(used for variant description)
(last modified October 7, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_198229.2 in the RGS12 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_029903.1, covering RGS12 transcript NM_198229.2.
(upstream sequence)
g.5004
attt c.-901
. . . . . . g.5064
atattcattttttactcttttccatcaaaacataattttactaagtacgcatgttctgtg c.-841
. . . . . . g.5124
tccgtgttttgtcatcactgaagccacttttggagtcacctagtaatagcctttccactc c.-781
. . . . . . g.5184
tatctagttctgtagcttttatgtgtgtaaattacttcaaatctgtttatgatcctattg c.-721
. . . . . . g.5244
ctggaaactttatcccaagacacaaaaatcttttctattagaagttattaactttaaaac c.-661
. . . . . . g.5304
aattatttattttattttattttattttttgagacagagtctcgctttgtcacccaggct c.-601
. . . . . . g.5364
ggagtgcagtggcacgatctcggctcactgcaagctccacctcccgagttcatgccattc c.-541
. . . . . . g.5424
tcctgcctcagcctcccgagtagctgggactacgggcgtccgccaccatgcccagctaat c.-481
. . . . . . g.5484
tttttttgtatttttggtagagacaaggtttcaccgtgttagccaggatggtcttgatct c.-421
. . . . . . g.5544
cctgacctcgtggtccacctgcctcggcctcccaaagcgctgggattataggcgtgagcc c.-361
. . . . . . g.5604
accgcacctggcctaaaacaattatttctttaaaaaaacataccctctattctattttgt c.-301
. . . . . . g.5664
gtcttcacaacacaatcacttactgtattgctttttaaagtgatctttaaagagtcttgc c.-241
. . . . . . g.5724
agaagagactacacagcaggcccgagaccatcctgagaggcctgtgtgcaaggctggccc c.-181
. . . . . . g.5784
cccgctggtgtcaggacggtgcccaccaccctcaatgaagaggggctccctgtgcttagc c.-121
. . | 02 . . . g.6964
tgcttgtgtggggaacaag | ggcactgtttgaagaagcaaacatggtagcatcaagcattc c.-61
. . . . . . g.7024
cttgaaatatggctccaagggaacaatgagacgtgctcttggtcttggaagctcatcaga c.-1
. . . . . . g.7084
ATGTTTAGAGCTGGGGAGGCCTCCAAACGCCCATTGCCTGGGCCGTCGCCCCCAAGGGTG c.60
M F R A G E A S K R P L P G P S P P R V p.20
. . . . . . g.7144
CGGAGTGTGGAGGTTGCCCGGGGGAGGGCCGGCTACGGATTCACGCTTTCGGGACAGGCA c.120
R S V E V A R G R A G Y G F T L S G Q A p.40
. . . . . . g.7204
CCCTGTGTGCTCAGCTGCGTCATGAGAGGGAGCCCTGCGGATTTCGTGGGCCTCCGAGCT c.180
P C V L S C V M R G S P A D F V G L R A p.60
. . . . . . g.7264
GGAGACCAGATACTTGCTGTCAATGAAATCAACGTGAAAAAAGCATCTCATGAAGATGTA c.240
G D Q I L A V N E I N V K K A S H E D V p.80
. . . . . . g.7324
GTGAAATTAATTGGGAAGTGCTCTGGTGTCCTTCACATGGTGATTGCTGAAGGCGTCGGC c.300
V K L I G K C S G V L H M V I A E G V G p.100
. . . . . . g.7384
CGCTTCGAATCCTGTTCCAGTGATGAAGAAGGGGGACTCTATGAAGGAAAAGGCTGGCTG c.360
R F E S C S S D E E G G L Y E G K G W L p.120
. . . . . . g.7444
AAGCCCAAGCTGGATTCTAAAGCACTAGGTATAAACAGAGCAGAGCGAGTCGTGGAGGAA c.420
K P K L D S K A L G I N R A E R V V E E p.140
. . . . . . g.7504
ATGCAGTCTGGTGGAATTTTCAATATGATTTTTGAAAACCCGAGCCTTTGTGCGAGCAAT c.480
M Q S G G I F N M I F E N P S L C A S N p.160
. . . . . . g.7564
TCAGAGCCCTTGAAATTGAAACAAAGATCCCTTTCAGAGTCGGCCGCAACTCGATTTGAT c.540
S E P L K L K Q R S L S E S A A T R F D p.180
. . . . . . g.7624
GTTGGACATGAAAGTATAAATAATCCAAATCCCAACATGCTTTCTAAGGAGGAAATATCA c.600
V G H E S I N N P N P N M L S K E E I S p.200
. . . . . . g.7684
AAAGTTATTCATGATGATTCGGTTTTCAGCATTGGACTAGAAAGTCATGACGATTTTGCA c.660
K V I H D D S V F S I G L E S H D D F A p.220
. . . . . . g.7744
TTGGATGCAAGTATTTTAAACGTGGCGATGATCGTGGGCTACTTAGGCTCCATTGAGCTT c.720
L D A S I L N V A M I V G Y L G S I E L p.240
. . . . . . g.7804
CCTTCCACGAGCTCCAACCTGGAGTCCGACAGCTTGCAAGCCATCCGCGGCTGCATGCGG c.780
P S T S S N L E S D S L Q A I R G C M R p.260
. . . . . . g.7864
CGCCTGCGGGCAGAGCAGAAAATCCACTCGCTGGTGACCATGAAGATCATGCACGACTGT c.840
R L R A E Q K I H S L V T M K I M H D C p.280
. . . . . . g.7924
GTGCAGCTGAGCACTGACAAGGCTGGAGTCGTGGCCGAGTACCCGGCCGAGAAGCTGGCC c.900
V Q L S T D K A G V V A E Y P A E K L A p.300
. . . . . . g.7984
TTCAGCGCCGTGTGCCCGGACGACCGGCGATTTTTCGGGTTGGTTACCATGCAGACGAAT c.960
F S A V C P D D R R F F G L V T M Q T N p.320
. . . . . . g.8044
GACGACGGGAGCCTGGCCCAGGAGGAGGAGGGCGCCCTGCGGACTTCCTGCCACGTGTTC c.1020
D D G S L A Q E E E G A L R T S C H V F p.340
. . . . . . g.8104
ATGGTGGACCCAGACTTGTTTAATCACAAGATCCACCAAGGCATTGCTCGGCGGTTTGGG c.1080
M V D P D L F N H K I H Q G I A R R F G p.360
. . . . . . g.8164
TTTGAGTGCACGGCCGACCCAGACACCAATGGCTGTCTGGAATTCCCGGCGTCCTCCCTC c.1140
F E C T A D P D T N G C L E F P A S S L p.380
. . . . . . g.8224
CCCGTCCTGCAGTTCATCTCTGTCCTGTACCGAGACATGGGTGAGCTGATTGAGGGCATG c.1200
P V L Q F I S V L Y R D M G E L I E G M p.400
. . . . . . g.8284
CGGGCCCGCGCCTTTCTGGACGGGGACGCCGATGCCCACCAGAACAACAGCACCAGCAGC c.1260
R A R A F L D G D A D A H Q N N S T S S p.420
. . . . . . g.8344
AACAGTGACAGCGGCATTGGGAACTTCCACCAGGAGGAGAAGAGCAACCGGGTCCTTGTG c.1320
N S D S G I G N F H Q E E K S N R V L V p.440
. . . . . . g.8404
GTGGACCTGGGTGGGAGCTCGAGCAGACACGGCCCCGGAGGCAGCGCGTGGGACGGTGTG c.1380
V D L G G S S S R H G P G G S A W D G V p.460
. . . . . . g.8464
GGTGGGAGGGGTGCCCAGCCCTGGGGTGCTCCCTGGACTGGGCCCTTCTGTCCGGACCCC c.1440
G G R G A Q P W G A P W T G P F C P D P p.480
. . . . . . g.8524
GAAGGGAGCCCCCCATTTGAGGCCGCTCATCAGACTGACAGGTTCTGGGACCTAAACAAG c.1500
E G S P P F E A A H Q T D R F W D L N K p.500
. . . . . . g.8584
CACCTAGGGCCAGCCTCTCCTGTGGAGGTGCCCCCAGCTTCCTTGAGGAGCTCAGTCCCC c.1560
H L G P A S P V E V P P A S L R S S V P p.520
. . . . . . g.8644
CCTTCCAAGAGGGGCACCGTGGGTGCTGGCTGTGGTTTCAACCAGCGCTGGCTCCCGGTC c.1620
P S K R G T V G A G C G F N Q R W L P V p.540
. . . . . . g.8704
CACGTGCTCCGGGAGTGGCAGTGCGGACACACCAGCGACCAGGACTCTTACACAGATTCC c.1680
H V L R E W Q C G H T S D Q D S Y T D S p.560
. . . . . . g.8764
ACCGATGGCTGGTCCAGCATCAACTGCGGCACACTGCCCCCTCCTATGAGCAAGATCCCC c.1740
T D G W S S I N C G T L P P P M S K I P p.580
. . . . . . g.8824
GCAGACCGCTACAGGGTGGAGGGCAGCTTCGCGCAGCCCCCGCTGAATGCCCCGAAGAGG c.1800
A D R Y R V E G S F A Q P P L N A P K R p.600
. . . . . . g.8884
GAGTGGTCCAGGAAGGCCTTTGGAATGCAAAGCATTTTTGGTCCCCATCGAAATGTTCGA c.1860
E W S R K A F G M Q S I F G P H R N V R p.620
. . | 03 . . . . g.33829
AAGACTAAGGAAGATAAAAAG | GGCTCAAAATTTGGGCGGGGAACTGGACTCACTCAGCCT c.1920
K T K E D K K | G S K F G R G T G L T Q P p.640
. . . . . . g.33889
TCTCAACGCACGTCTGCTCGGAGATCATTTGGGAGATCCAAGAGATTCAGTATCACTCGC c.1980
S Q R T S A R R S F G R S K R F S I T R p.660
. | 04 . . | 05 . . g.104945
TCCCTTGATGATCTTGAG | TCTGCAACTGTGTCTGATGGCG | AGTTGACGGGCGCCGACCTG c.2040
S L D D L E | S A T V S D G E | L T G A D L p.680
. . . . . . g.105005
AAGGACTGCGTCAGCAACAACAGCCTGAGCAGCAATGCCAGCCTCCCCAGCGTGCAGAGC c.2100
K D C V S N N S L S S N A S L P S V Q S p.700
. . . . . . g.105065
TGCCGGCGCCTGCGTGAGAGGAGGGTCGCCAGCTGGGCCGTGTCCTTTGAGCGCCTGCTG c.2160
C R R L R E R R V A S W A V S F E R L L p.720
. . . | 06 . . . g.105635
CAGGACCCCGTCGGTGTCCGCTACTTCTCT | GATTTTCTAAGGAAAGAATTCAGTGAAGAA c.2220
Q D P V G V R Y F S | D F L R K E F S E E p.740
. . . . . . g.105695
AACATTTTATTCTGGCAGGCCTGTGAATATTTTAATCATGTTCCTGCACATGACAAAAAG c.2280
N I L F W Q A C E Y F N H V P A H D K K p.760
| 07 . . . . . . g.106888
GAG | CTTTCCTACAGGGCCCGGGAGATTTTCAGTAAGTTTCTCTGCAGCAAAGCCACCACC c.2340
E | L S Y R A R E I F S K F L C S K A T T p.780
. . . . . . g.106948
CCGGTCAACATCGACAGCCAGGCCCAGCTAGCAGACGACGTCCTCCGCGCACCTCACCCA c.2400
P V N I D S Q A Q L A D D V L R A P H P p.800
. . | 08. . . . g.107799
GACATGTTCAAGGAGCAGCAGCTGCAG | ATCTTCAATCTCATGAAGTTTGATAGCTACACT c.2460
D M F K E Q Q L Q | I F N L M K F D S Y T p.820
. . . . . . g.107859
CGCTTTCTGAAGTCCCCGCTGTACCAGGAATGCATCCTGGCGGAAGTGGAGGGCCGTGCA c.2520
R F L K S P L Y Q E C I L A E V E G R A p.840
. . . . . . g.107919
CTCCCGGACTCGCAGCAGGTCCCCAGCAGCCCGGCTTCCAAGCACAGCCTCGGTTCAGAC c.2580
L P D S Q Q V P S S P A S K H S L G S D p.860
. . | 09. . . . g.108274
CACTCCAGTGTGTCCACGCCAAAAAAG | TTAAGTGGAAAATCAAAATCCGGCCGATCCCTG c.2640
H S S V S T P K K | L S G K S K S G R S L p.880
. . . . . . g.108334
AATGAAGAGCTGGGGGATGAGGACAGCGAGAAGAAGCGGAAAGGCGCGTTTTTCTCGTGG c.2700
N E E L G D E D S E K K R K G A F F S W p.900
. . . . . . g.108394
TCGCGGACCAGGAGCACCGGGAGGTCCCAGAAAAAGAGGGAGCACGGGGACCACGCAGAC c.2760
S R T R S T G R S Q K K R E H G D H A D p.920
| 10 . . . . . . g.111554
G | ACGCCCTGCATGCCAATGGAGGCCTGTGTCGCCGAGAGTCGCAGGGCTCTGTGTCCTCT c.2820
D | A L H A N G G L C R R E S Q G S V S S p.940
. | 11 . . . . g.113271
GCGGGGAGCCTGGACCTG | TCGGAGGCCTGCAGGACTTTGGCACCCGAGAAGGACAAGGCC c.2880
A G S L D L | S E A C R T L A P E K D K A p.960
. . . . . . g.113331
ACCAAGCACTGCTGCATTCATCTCCCGGATGGGACATCCTGCGTGGTGGCTGTCAAGGCG c.2940
T K H C C I H L P D G T S C V V A V K A p.980
. . . . . . g.113391
GGCTTCTCCATCAAAGACATCCTGTCCGGACTCTGTGAGCGGCATGGCATCAACGGGGCG c.3000
G F S I K D I L S G L C E R H G I N G A p.1000
. . . | 12 . . . g.113785
GCCGCGGACCTCTTCCTGGTGGGCGGGGACAAG | CCTCTGGTGCTGCACCAAGACAGTAGC c.3060
A A D L F L V G G D K | P L V L H Q D S S p.1020
. . . . | 13. . g.114381
ATCTTGGAGTCAAGGGACCTGCGCCTAGAAAAGCGCACCTTGTTTCG | GCTGGATCTTGTT c.3120
I L E S R D L R L E K R T L F R | L D L V p.1040
. . . . . . g.114441
CCGATTAACCGGTCAGTGGGACTCAAGGCCAAGCCCACCAAGCCCGTCACGGAGGTGCTG c.3180
P I N R S V G L K A K P T K P V T E V L p.1060
. . . . . | 14 . g.116323
CGGCCCGTGGTGGCCAGATACGGCCTGGACCTCAGTGGCCTGCTGGTGAGGCTG | AGTGGA c.3240
R P V V A R Y G L D L S G L L V R L | S G p.1080
. . . . . . g.116383
GAGAAGGAGCCCCTGGACCTTGGCGCCCCTATATCGAGTCTGGACGGACAGCGGGTTGTC c.3300
E K E P L D L G A P I S S L D G Q R V V p.1100
. . . | 15 . . . g.118972
TTGGAGGAGAAGGATCCTTCCAGAGGAAAGG | CATCCGCAGATAAACAGAAAGGTGTGCCA c.3360
L E E K D P S R G K A | S A D K Q K G V P p.1120
. . . . . | 16 . g.119420
GTGAAACAGAACACAGCTGTAAATTCCAGCTCCAGAAACCACTCGGCTACG | GGAGAGGAA c.3420
V K Q N T A V N S S S R N H S A T | G E E p.1140
. . . . . . g.119480
AGAACACTAGGCAAGTCTAATTCTATTAAAATAAAAGGAGAAAATGGAAAAAATGCTAGG c.3480
R T L G K S N S I K I K G E N G K N A R p.1160
. . . . . . g.119540
GATCCCCGGCTTTCAAAGAGAGAAGAATCTATTGCAAAGATTGGGAAAAAAAAATATCAG c.3540
D P R L S K R E E S I A K I G K K K Y Q p.1180
. . | 17 . . . . g.121295
AAAATTAATTTGGACGAAGCAGAGG | AGTTTTTTGAGCTTATTTCCAAAGCTCAGAGCAAC c.3600
K I N L D E A E E | F F E L I S K A Q S N p.1200
. . . . . . g.121355
AGAGCAGATGACCAACGTGGGCTGCTAAGGAAGGAAGACCTGGTGTTGCCAGAGTTCCTC c.3660
R A D D Q R G L L R K E D L V L P E F L p.1220
. . . . . . g.121415
CGTTTACCTCCTGGTTCCACAGAACTCACCCTCCCCACTCCAGCTGCTGTGGCCAAGGGC c.3720
R L P P G S T E L T L P T P A A V A K G p.1240
. . . . . . g.121475
TTTAGCAAGAGAAGCGCCACAGGCAACGGCCGGGAGAGCGCCTCCCAGCCTGGCGAGCAG c.3780
F S K R S A T G N G R E S A S Q P G E Q p.1260
. . . . . . g.121535
TGGGAGCCAGTCCAGGAGAGCAGCGACAGCCCGTCCACCAGCCCGGGCTCAGCCTCCAGC c.3840
W E P V Q E S S D S P S T S P G S A S S p.1280
. . . . . . g.121595
CCCCCTGGACCTCCTGGGACGACCCCCCCCGGGCAGAAGTCTCCCAGCGGGCCCTTCTGC c.3900
P P G P P G T T P P G Q K S P S G P F C p.1300
. . . . . . g.121655
ACTCCCCAGTCCCCCGTCTCCCTCGCGCAGGAGGGCACCGCCCAGATCTGGAAGAGGCAG c.3960
T P Q S P V S L A Q E G T A Q I W K R Q p.1320
. . . . . . g.121715
TCTCAGGAAGTGGAGGCCGGGGGCATCCAGACGGTGGAGGATGAGCACGTGGCCGAGCTG c.4020
S Q E V E A G G I Q T V E D E H V A E L p.1340
. . . . . . g.121775
ACCCTGATGGGGGAGGGGGACATCAGCAGCCCCAACAGCACCTTGCTGCCGCCGCCCTCC c.4080
T L M G E G D I S S P N S T L L P P P S p.1360
. . . | 18 . . . g.130334
ACCCCCCAGGAAGTGCCAGGACCTTCCAGACCAG | GAAGTGGGACCCATGGCAGCCGAGAC c.4140
T P Q E V P G P S R P G | S G T H G S R D p.1380
. . . . . . g.130394
CTCCCAGTCAACAGAATCATCGATGTGGATCTTGTAACTGGCTCGGCGCCCGGGCGGGAT c.4200
L P V N R I I D V D L V T G S A P G R D p.1400
. . . . . . g.130454
GGTGGCATAGCGGGGGCACAGGCTGGCCCTGGGAGGTCGCAGGCCAGTGGTGGGCCTCCT c.4260
G G I A G A Q A G P G R S Q A S G G P P p.1420
. . . . . . g.130514
ACATCAGACCTCCCTGGCTTGGGCCCCGTCCCGGGTGAGCCTGCTAAGCCCAAGACCAGC c.4320
T S D L P G L G P V P G E P A K P K T S p.1440
. . g.130538
GCTCACCACGCCACCTTCGTCTGA c.4344
A H H A T F V X p.1447
. . . . . . g.130598
gctgccctggcctggccaactctcctgtggacatgtcggggtggggcagcccaggtggat c.*60
. . . . . . g.130658
tctgtgggcctcaggggggccaccctggccaccacaccctcaggagcccagccaggaggg c.*120
. . . . . . g.130718
cagggggtgacctcgctggaggcactggccccggacattcgccatgctggccatggggct c.*180
. . . . g.130767
ccctggccctggcctcctgctgcccaataaagcatttctgaggacccaa c.*229
(downstream sequence)
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