(used for variant description)
(last modified March 5, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_000813.2 in the GABRB2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000005.9, covering GABRB2 transcript NM_000813.2.
(upstream sequence)
. . . g.5038
gcgcggggaagggaagaagaggacgaggtggcgcggag c.-181
. . . | 02. . . g.6361
accgcgggagaacacagtgcctccggag | gaaatctgctcggtccccggcagccgccgctt c.-121
. . . . . . g.6421
cccctttgatgttttggtacgccgtgcgcatgcgcctcacattagaattactgcactggg c.-61
. . . . . . g.6481
cagactaagttggatctcctctcttcagtgaaaccctcaattccatcaaaaactaaaggg c.-1
. . . . . . g.6541
ATGTGGAGAGTGCGGAAAAGGGGCTACTTTGGGATTTGGTCCTTCCCCTTAATAATCGCC c.60
M W R V R K R G Y F G I W S F P L I I A p.20
. | 03. . . . . g.6754
GCTGTCTGTGCGCAGAG | TGTCAATGACCCTAGTAATATGTCGCTGGTTAAAGAGACGGTG c.120
A V C A Q S | V N D P S N M S L V K E T V p.40
. . . . | 04 . g.7841
GATAGACTCCTGAAAGGCTATGACATTCGTCTGAGACCAGATTTTGGAG | GTCCCCCCGTG c.180
D R L L K G Y D I R L R P D F G G | P P V p.60
. . . . . | 05. g.93283
GCTGTGGGGATGAACATTGACATTGCCAGCATCGATATGGTTTCTGAAGTCAATATG | GAT c.240
A V G M N I D I A S I D M V S E V N M | D p.80
. . . . . . g.93343
TATACCTTGACAATGTACTTTCAACAAGCCTGGAGAGATAAGAGGCTGTCCTATAATGTA c.300
Y T L T M Y F Q Q A W R D K R L S Y N V p.100
. . . . . . g.93403
ATACCTTTAAACTTGACTCTGGACAACAGAGTGGCAGACCAGCTCTGGGTGCCTGATACC c.360
I P L N L T L D N R V A D Q L W V P D T p.120
. . . . . . g.93463
TATTTCCTGAACGATAAGAAGTCATTTGTGCACGGAGTGACTGTTAAGAACCGCATGATT c.420
Y F L N D K K S F V H G V T V K N R M I p.140
. . . | 06 . . g.142089
CGCCTGCATCCTGATGGCACCGTCCTTTATGGACTCAG | AATCACAACCACAGCTGCCTGC c.480
R L H P D G T V L Y G L R | I T T T A A C p.160
. . . . . . g.142149
ATGATGGACCTAAGGAGGTACCCACTGGATGAACAAAACTGCACCTTGGAAATTGAGAGC c.540
M M D L R R Y P L D E Q N C T L E I E S p.180
| 07 . . . . . . g.216413
T | ATGGATACACAACTGATGACATTGAGTTTTACTGGCGTGGCGATGATAATGCAGTAACA c.600
Y | G Y T T D D I E F Y W R G D D N A V T p.200
. . . . . . g.216473
GGAGTAACGAAAATTGAACTTCCACAGTTCTCTATTGTAGATTACAAACTTATCACCAAG c.660
G V T K I E L P Q F S I V D Y K L I T K p.220
. | 08 . . . . g.218260
AAGGTTGTTTTTTCCACAG | GTTCCTATCCCAGGTTATCCCTCAGCTTTAAGCTTAAGAGA c.720
K V V F S T G | S Y P R L S L S F K L K R p.240
. . . . . . g.218320
AACATTGGCTACTTTATCCTGCAAACATACATGCCTTCCATCCTGATTACCATCCTCTCC c.780
N I G Y F I L Q T Y M P S I L I T I L S p.260
. . . . . | 09 . g.222004
TGGGTCTCCTTCTGGATTAATTACGATGCTTCAGCTGCAAGGGTGGCATTAG | GAATCACA c.840
W V S F W I N Y D A S A A R V A L G | I T p.280
. . . . . . g.222064
ACTGTCCTCACAATGACCACAATCAACACCCACCTCCGGGAAACTCTCCCTAAAATCCCC c.900
T V L T M T T I N T H L R E T L P K I P p.300
. . . . . . g.222124
TATGTGAAGGCCATTGACATGTACCTGATGGGGTGCTTTGTCTTCGTTTTCATGGCCCTT c.960
Y V K A I D M Y L M G C F V F V F M A L p.320
. . . . . . g.222184
CTGGAATATGCCCTAGTCAACTACATCTTCTTTGGGAGGGGGCCCCAACGCCAAAAGAAA c.1020
L E Y A L V N Y I F F G R G P Q R Q K K p.340
. . . . . | 10. g.258698
GCAGCTGAGAAGGCTGCCAGTGCCAACAATGAGAAGATGCGCCTGGATGTCAACAAG | ATG c.1080
A A E K A A S A N N E K M R L D V N K | M p.360
. . . . . . g.258758
GACCCCCATGAGAACATCTTACTGAGCACTCTCGAGATAAAAAATGAAATGGCCACATCT c.1140
D P H E N I L L S T L E I K N E M A T S p.380
. . . . . . g.258818
GAGGCTGTGATGGGACTTGGAGACCCCAGAAGCACAATGCTAGCCTATGATGCCTCCAGC c.1200
E A V M G L G D P R S T M L A Y D A S S p.400
. . . . . . g.258878
ATCCAGTATCGGAAAGCTGGGTTGCCCAGGCATAGTTTTGGCCGAAATGCTCTGGAACGA c.1260
I Q Y R K A G L P R H S F G R N A L E R p.420
. . . . . . g.258938
CATGTGGCGCAAAAGAAAAGTCGCCTGAGGAGACGCGCCTCCCAACTGAAAATCACCATC c.1320
H V A Q K K S R L R R R A S Q L K I T I p.440
. . . . . . g.258998
CCTGACTTGACTGATGTGAATGCCATAGATCGGTGGTCCCGCATATTCTTCCCAGTGGTT c.1380
P D L T D V N A I D R W S R I F F P V V p.460
. . . . g.259043
TTTTCCTTCTTCAACATCGTCTATTGGCTTTATTATGTGAACTAA c.1425
F S F F N I V Y W L Y Y V N X p.474
. . . . . . g.259103
aacatggcctcccactggaagcaaggactagattcctcctcaaaccagttgtacagcctg c.*60
. . . . . . g.259163
atgtaggacttggaaaacacatcaatccaggacaaaagtgacgctaaaataccttagttg c.*120
. . . . . . g.259223
ctggcctatcctgtggtccatttcataccatttgggttgcttctgctaagtaatgaatac c.*180
. . . . . . g.259283
actaaggtccttgtggttttccagttaaaacgcaagtgatttttacacatggtggctaga c.*240
. . . . . . g.259343
cagcctgagtgctccatgttgtctgtttagtatgcagcctactcagaggggaataatttg c.*300
. . . . . . g.259403
gaagatattcttagaaggctcaacagcattgtcagtcatttggtcataaccagatactcc c.*360
. . . . . . g.259463
tcatcttcctttttaaggtcggcatgctgttgagatggcattgtccttatgaaacattat c.*420
. . . . . . g.259523
ctgtaatgccatgcaaacacattacttgaagatgatctatgattttcttactgagatgat c.*480
. . . . . . g.259583
aatggtgtcatgggaagattattcccactggtttctaaaagattctcttgtgatttgagc c.*540
. . . . . . g.259643
aggctaggggaatcaagacagagactcaggaaaccgatttggccagtccctttgcttgag c.*600
. . . . . . g.259703
cacggagaatcaactatgatgtctttcattttggcatttagagatgaggagacttctgga c.*660
. . . . . . g.259763
caatatcatgcatggtggccaagaaaatttttgctaaacggctatttcctaggtggttaa c.*720
. . . . . . g.259823
agtaagagttaacaacacagagcagagtagaaaatcagaaacgacggttgtaacaaaaag c.*780
. . . . . . g.259883
caagcaagcaagaaagcatgacccttatcagctccacacagcatctggtctatacatact c.*840
. . . . . . g.259943
gtgtctagtggcagagggtgagtaagagagattgtttttccaacatcactagcttttgac c.*900
. . . . . . g.260003
agcatacctaaagaggtttttatagtttaatcgaagataaccatgaaatacaaaaattag c.*960
. . . . . . g.260063
agaaatgagaattgtcttagatattcaggttagattcagagtcattcaaatatacaaata c.*1020
. . . . . . g.260123
cagagcacaaactagcaaacagattgtttttctcagacgaagtcagctgtccctgcaatt c.*1080
. . . . . . g.260183
tttgtccctataattttatttcttaatttaatagagtatttcaagagaaggatttgttca c.*1140
. . . . . . g.260243
tcactttaaaggattcatggtcctctccagctttttttttgcttccaaaattctgattat c.*1200
. . . . . . g.260303
attcttaggagactggcaaagtaaggctttggagagattgagtgaactatattttcttat c.*1260
. . . . . . g.260363
atgcaatgaaattcaccattgtatttttcaaagcaaataatacttcaaggagtatgaaca c.*1320
. . . . . . g.260423
cacagagagttaatttgtgcattcattggtttggggcttgattttcttaagagtgctttc c.*1380
. . . . . . g.260483
attgtatatgttgcaatctgcctaatcaaggaaaatatgaaaactagtggaaaataataa c.*1440
. . . . . . g.260543
caaagccacattaacatgataaatgttatgagcctcagttgatattgcagaaaaatatat c.*1500
. . . . . . g.260603
aactgttaatcaggcaggcatgatgtattttttttctatttttaagttatgccattgtgc c.*1560
. . . . . . g.260663
ttctttctacactaattggacataagcattcatatgttggacaagaggagaataagctaa c.*1620
. . . . . . g.260723
tatgtcttccttctatcaatataaggctcatattttgcttttcttatagaaaatagtgaa c.*1680
. . . . . . g.260783
ttgctaaattttccttaaagttgaatttgattgaactttttcttggaggatgactttgct c.*1740
. . . . . . g.260843
atttctattttgaaaacaaagaaagctcttctttttagagtaatatccctaattgtgcat c.*1800
. . . . . . g.260903
agcagccagtatccacctgtgaataatgtatgttttcttgattccttgtttccttcatga c.*1860
. . . . . . g.260963
tttagcagcttggaatatgatggagtactattgcccttgcattccagctgtccaagaaca c.*1920
. . . . . . g.261023
acaacaaacctttatccttcagctttctgaatttgccccaaaatggaatggtattttgtt c.*1980
. . . . . . g.261083
tttcaccagtgtaggaaaccttggccattatattttgattacataatcttgagcacctct c.*2040
. . . . . . g.261143
gagtatcatctttgggcagaatctgaccaagattcttctcacaggctcagagtagagatt c.*2100
. . . . . . g.261203
cctcatgtttctccaggacacactttctcctaggcaatcattttggggcatcacactaag c.*2160
. . . . . . g.261263
taaagtgcctgccccttgtcaacagggggtaaagtttgactaaaaaacatcaggaaggaa c.*2220
. . . . . . g.261323
catattgataactcaggggcacaactccaaaatgccattctgaaaaggctcttctagagt c.*2280
. . . . . . g.261383
caactcagagcccaagtgtagaagtgggctcttatgtgcaatcactgtacaagccataaa c.*2340
. . . . . . g.261443
aatctttgatattgccatttatgattacaacaaaattttagatgtccaagaaagtcaaca c.*2400
. . . . . . g.261503
gaacaatccagatcaaagtgtagagaagcatctttgcagcttgagcctcaaaagcataaa c.*2460
. . . . . . g.261563
accaggaattcatttctgctctcagtgatacaagaaacaaggcaaaggaaaaaagatggg c.*2520
. . . . . . g.261623
accttagaagcaatgccctagagtaaaaagcatacattggcactcagtaaccacagagat c.*2580
. . . . . . g.261683
agaaacaactgactcagcctctccagaaataacagtagatgtagaatttgttcttaaata c.*2640
. . . . . . g.261743
tatgtttcgttgaaatgaaatgcagtcatcaaatgcgaggaggggtgctagacctgataa c.*2700
. . . . . . g.261803
gtctaggaagaccagtcagcttgatagccagttgttaaactaaaggaccacaaaggtgtg c.*2760
. . . . . . g.261863
tttagtagttctgatatgggattactatcagtttatacatatgtatagattttcttttaa c.*2820
. . . . . . g.261923
ttataaacagccagatagccagcaattaaggtgttttttcatctttgtgaaattcatgga c.*2880
. . . . . . g.261983
caaattctgactctaaaatgcacagtctacatgaaatctttgatctcaatctgtatatat c.*2940
. . . . . . g.262043
atatattgtacatgaccgctagtaggtatgaaatgcatttcagagttgaaaactcatgca c.*3000
. . . . . . g.262103
acataatcatgtgtttgcataaggaatgttaaaattctttctactacaatttattaacag c.*3060
. . . . . . g.262163
gggaaaagattcaagcagtgccatctagaccttttctcttctcatttcttcaaaagcagt c.*3120
. . . . . . g.262223
gctaagtaaaataataataataaaaatggtttatgaaccaaaagactttacattctagca c.*3180
. . . . . . g.262283
ttaggaacacacacaaaaaaatctgtcagcttacaaaagcacaacacataaagaaagagc c.*3240
. . . . . . g.262343
agtggaatgcgtaatggggaaatgaatcatgtttaaagcaagacttgcattaaattggca c.*3300
. . . . . . g.262403
actaagataatttccattttctataggtaaccgtgttccagtttaatgattaccttcata c.*3360
. . . . . . g.262463
ctcaacaagaaaaatggcaaagcaacatcatcaaaataggtcttacaacatatctacatg c.*3420
. . . . . . g.262523
tatatatgtgtatatatagattcatataaacatacatacatatatatgcattcatatgtt c.*3480
. . . . . . g.262583
ggaaaacaaaaggaataagctaatatgttttatttccttcattaaaccagtatatgagta c.*3540
. . . . . . g.262643
tttttaatttggcaaacaaaaatcaacatactgaaataagtaatacagggtactgagcat c.*3600
. . . . . . g.262703
ttctctatcagcaaatcaatgcctacagtttttatgaaccattgcacagttcaactcgac c.*3660
. . . . . . g.262763
aatagtactgtaccccagaacatcagaagttaagtagttgtcacattgcttgtctaattg c.*3720
. . . . . . g.262823
ctctctttttcaaggaaacaaataacattgtccattggtgagtcaaaaacaaacatgtct c.*3780
. . . . . . g.262883
taagaaaatgaaaaatgataaaaattcctccaaagaggaagaaaaaaaaaaaactaaacc c.*3840
. . . . . . g.262943
ccaccatgttggttagggcaaaatactaagtattcacaactgtagcaatcatgccatttg c.*3900
. . . . . . g.263003
gctaaatgtacagagtacatgtaatgtgagcaaccataactttcactgaacgtgtgtaaa c.*3960
. . . . . . g.263063
tattaaaacagatttcttaaatatttttaacttctaatttgtattttatggtaaggcaat c.*4020
. . . . . . g.263123
gtgctaattccgtttatggcttaagttgatgtgttataatatgtaaataattaaacatgc c.*4080
. . . . . . g.263183
tgtaaatgaatagtcaatagatacaaataattgtttagtttttttcttaatttttattta c.*4140
. . . . . . g.263243
ttttttactaagtactattactgcagtgcccccagcagagtaatttaaacacccttttgc c.*4200
. . . . . . g.263303
ataaatggtttgggaatcccagacagaagggtttcaatttgctatcacacacacagtcac c.*4260
. . . . . . g.263363
acacagtcacacacacacacacacacacactcaaacacacataatcttttgctcacccac c.*4320
. . . . . . g.263423
tctgtctctctgcccgtctatgggaaacactctactatttatgtagtcaatataacaaac c.*4380
. . . . . . g.263483
aagagatagcctttgaaatggcaattgggaaaagcaaaaatgatcattgataacttaata c.*4440
. . . . . . g.263543
gacttttttatatgtcagagttcaagaaaccaaagtttgcaacttaaatctcagttttca c.*4500
. . . . . . g.263603
aacagtaaaagtttgtatagatggcactacagaaaaataaaaatggttattcctaccagc c.*4560
. . . . . . g.263663
tccagaaatgtgttacacaatatacactagaagactttttttttaataatagtattttgt c.*4620
. . . . . . g.263723
ccttaggtagtattgttcctttcaaccaaagactccagaattattgaaaaacaaaaaagg c.*4680
. . . . . . g.263783
aaaaaaaaaatgagataatgggggaaaaaaaggacgctgcttcacaccaaaggtttaaaa c.*4740
. . . . . . g.263843
aaatattttccaaatgcactaggaacattgtaaaaaccagaaaggagtgaacagaatgct c.*4800
. . . . . . g.263903
aatgaagatactgccctaaagaaatctgtacaaaaaaaaaaaaaaaaagcagcactctta c.*4860
. . . . . . g.263963
aaaagctactaggtttttggaaattgaagtaaaatatttctgtagatatattcaaaattc c.*4920
. . . . . . g.264023
tgacatcaaattttaatttgcttaaagaagttttatttgtgatgaagatcaatatgattc c.*4980
. . . . . . g.264083
aaatgatgaaaaacaaaactgtatgtcctttgagttcccaaaccaaatgtcactgccgtg c.*5040
. . . . . . g.264143
tcacatcctctaatctgatgcccatgtgtgtgtccttgcgccatttgaagcaagttgaca c.*5100
. . . . . . g.264203
gttccatcagtttgtttttgtttttgtttttggttcaataatttgagttcaaccatcgtc c.*5160
. . . . . . g.264263
attttaaacataattaatcccaacaaagttgcctatagtttaatttaaacctcacagcat c.*5220
. . . . . . g.264323
ttttaatttattttgcatgggtgtttaaatagttctgttacgaatattgtccctgcacag c.*5280
. . . . . . g.264383
ttctaaattgtccttttataaaaaaaaaaagtgatattctagtttcttcacaatgtagtg c.*5340
. . . . . . g.264443
attatcagccttactaattaccttgtagcctttcttaatatgcacataatgcacattttc c.*5400
. . . . . . g.264503
cgatggctagaaaaatgcaaaacacagtggatatcattgcatctattttcatgtctttct c.*5460
. . . . . . g.264563
aaaaacaggactattaaaatctctgggatacatgagatagtaaaaaatgaggattataaa c.*5520
. . . . . . g.264623
tgaatagcacataagaattattttcttgaatttaaacttattgcagccagtttcagcatg c.*5580
. . . . . . g.264683
taaatatataataatgttggctagtgtgtaattcttgaactaagaaatataaataaaaat c.*5640
. g.264695
aaaaagattgtg c.*5652
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 18
©2004-2017 Leiden University Medical Center