(used for variant description)
(last modified September 7, 2023)
This file was created to facilitate the description of sequence variants on transcript NM_198904.2 in the GABRG2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000005.9, covering GABRG2 transcript NM_198904.2.
(upstream sequence)
. . . . . g.5058
gtaagtgtgaggggcatgagtatacacgagtgtgcgtgtctttccctctcccttattt c.-301
. . . . . . g.5118
gtctccgtatgagtctctccttgtaccctccccctgcctcgatgatattactcccccaga c.-241
. . . . . . g.5178
cttggaagccgctgccagagtgacgctttgatggtatctgcaagcgtttttgctgatctt c.-181
. . . . . . g.5238
atctctgccccctgaatattaattccctaatctggtagcaatccatctccccagtgaagg c.-121
. . . . . . g.5298
acctactagaggcaggtggggggagccaccatcagatcataagcataagaataatacaaa c.-61
. . . . . . g.5358
ggggagggattcttctgcaaccaagaggcaagaggcgagagaaggaaaaaaaaaaaagcg c.-1
. . . . . . g.5418
ATGAGTTCGCCAAATATATGGAGCACAGGAAGCTCAGTCTACTCGACTCCTGTATTTTCA c.60
M S S P N I W S T G S S V Y S T P V F S p.20
. . . . | 02. . g.31199
CAGAAAATGACGGTGTGGATTCTGCTCCTGCTGTCGCTCTACCCTGG | CTTCACTAGCCAG c.120
Q K M T V W I L L L L S L Y P G | F T S Q p.40
. . . . . . g.31259
AAATCTGATGATGACTATGAAGATTATGCTTCTAACAAAACATGGGTCTTGACTCCAAAA c.180
K S D D D Y E D Y A S N K T W V L T P K p.60
. . . . . . g.31319
GTTCCTGAGGGTGATGTCACTGTCATCTTAAACAACCTGCTGGAAGGATATGACAATAAA c.240
V P E G D V T V I L N N L L E G Y D N K p.80
. | 03 . . . . g.32894
CTTCGGCCTGATATAGGAG | TGAAGCCAACGTTAATTCACACAGACATGTATGTGAATAGC c.300
L R P D I G V | K P T L I H T D M Y V N S p.100
. . | 04. . . . g.35029
ATTGGTCCAGTGAACGCTATCAATATG | GAATACACTATTGATATATTTTTTGCGCAAACG c.360
I G P V N A I N M | E Y T I D I F F A Q T p.120
. . . . . . g.35089
TGGTATGACAGACGTTTGAAATTTAACAGCACCATTAAAGTCCTCCGATTGAACAGCAAC c.420
W Y D R R L K F N S T I K V L R L N S N p.140
. . . . . . g.35149
ATGGTGGGGAAAATCTGGATTCCAGACACTTTCTTCAGAAATTCCAAAAAAGCTGATGCA c.480
M V G K I W I P D T F F R N S K K A D A p.160
. . . . . . g.35209
CACTGGATCACCACCCCCAACAGGATGCTGAGAATTTGGAATGATGGTCGAGTGCTCTAC c.540
H W I T T P N R M L R I W N D G R V L Y p.180
| 05 . . . . . g.38645
ACCCTAAG | GTTGACAATTGATGCTGAGTGCCAATTACAATTGCACAACTTTCCAATGGAT c.600
T L R | L T I D A E C Q L Q L H N F P M D p.200
. . . | 06 . . . g.41276
GAACACTCCTGCCCCTTGGAGTTCTCCAGTT | ATGGCTATCCACGTGAAGAAATTGTTTAT c.660
E H S C P L E F S S Y | G Y P R E E I V Y p.220
. . . . . . g.41336
CAATGGAAGCGAAGTTCTGTTGAAGTGGGCGACACAAGATCCTGGAGGCTTTATCAATTC c.720
Q W K R S S V E V G D T R S W R L Y Q F p.240
. . . . | 07 . g.79533
TCATTTGTTGGTCTAAGAAATACCACCGAAGTAGTGAAGACAACTTCCG | GAGATTATGTG c.780
S F V G L R N T T E V V K T T S G | D Y V p.260
. . . . . . g.79593
GTCATGTCTGTCTACTTTGATCTGAGCAGAAGAATGGGATACTTTACCATCCAGACCTAT c.840
V M S V Y F D L S R R M G Y F T I Q T Y p.280
. . . . . . g.79653
ATCCCCTGCACACTCATTGTCGTCCTATCCTGGGTGTCTTTCTGGATCAATAAGGATGCT c.900
I P C T L I V V L S W V S F W I N K D A p.300
. . | 08 . . . . g.86504
GTTCCAGCCAGAACATCTTTAG | GTATCACCACTGTCCTGACAATGACCACCCTCAGCACC c.960
V P A R T S L G | I T T V L T M T T L S T p.320
. . . . . . g.86564
ATTGCCCGGAAATCGCTCCCCAAGGTCTCCTATGTCACAGCGATGGATCTCTTTGTATCT c.1020
I A R K S L P K V S Y V T A M D L F V S p.340
. . . . . . g.86624
GTTTGTTTCATCTTTGTCTTCTCTGCTCTGGTGGAGTATGGCACCTTGCATTATTTTGTC c.1080
V C F I F V F S A L V E Y G T L H Y F V p.360
. . . . | 09 . g.89100
AGCAACCGGAAACCAAGCAAGGACAAAGATAAAAAGAAGAAAAACCCT | CTTCTTCGGATG c.1140
S N R K P S K D K D K K K K N P | L L R M p.380
. | 10 . . . . . g.90499
TTTTCCTTCAAG | GCCCCTACCATTGATATCCGCCCAAGATCAGCAACCATTCAAATGAAT c.1200
F S F K | A P T I D I R P R S A T I Q M N p.400
. . . . . . g.90559
AATGCTACACACCTTCAAGAGAGAGATGAAGAGTACGGCTATGAGTGTCTGGACGGCAAG c.1260
N A T H L Q E R D E E Y G Y E C L D G K p.420
. . . . . . g.90619
GACTGTGCCAGTTTTTTCTGCTGTTTTGAAGATTGTCGAACAGGAGCTTGGAGACATGGG c.1320
D C A S F F C C F E D C R T G A W R H G p.440
. . . . . . g.90679
AGGATACATATCCGCATTGCCAAAATGGACTCCTATGCTCGGATCTTCTTCCCCACTGCC c.1380
R I H I R I A K M D S Y A R I F F P T A p.460
. . . . g.90727
TTCTGCCTGTTTAATCTGGTCTATTGGGTCTCCTACCTCTACCTGTGA c.1428
F C L F N L V Y W V S Y L Y L X p.475
. . . . . . g.90787
ggaggtatgggttttactgatatggttcttattcactgagtctcatggagagatgtctgt c.*60
. . . . . . g.90847
tctaagtccacttaaataatcctctatgtggttgataatgatctgaatctgtttctatgt c.*120
. . . . . . g.90907
ccaaacctggtaaattttataatgtcatattgtttgtgcccagccctcctttggttagtg c.*180
. . . . . . g.90967
tactttgaacttcgatgtttgctgtgtttcaaacctgcaaggcaaagtaaaattagagca c.*240
. . . . . . g.91027
agaacattcaaaccaaataagatatttttcagctacagcaaataaaacagtgaaagccct c.*300
. . . . . . g.91087
gactatttacagtagtggtatccttactagattcataatgcaattagatagaaaaggtcc c.*360
. . . . . . g.91147
aaaactgtaccctatgttcactccgggtcaagttgtgataaatttgatcccaatagaata c.*420
. . . . . . g.91207
cctccctcatttaagaaaaatcataactcactttaaatatgaaagcctagtccagaaatc c.*480
. . . . . . g.91267
tattacacctttatctcaagataggaagaaaatttcctccacattcatgtacaatgatgt c.*540
. . . . . . g.91327
aaatatttcaataacttagaatgcttcaagtttagtgcatgcatctctttagatccaaaa c.*600
. . . . . . g.91387
taaatggactgaagttatcatcctattgtcttttattttgtgtccttgggctataaaaga c.*660
. . . . . . g.91447
ttcctgaatgtaattataaggatttgggtttggaaatggagggaggaattttcattgcct c.*720
. . . . . . g.91507
tctccctcatgcatgaagattcgaacagcttattttttccttgtatgacatattacaaca c.*780
. . . . . . g.91567
ctttaagtaaaatatagactggataatcaacatttgccacctctaaatatgcccaatttc c.*840
. . . . . . g.91627
ataactagagtataaagtaattgtatgtgcttgccgctatttttttcttccttttaggat c.*900
. . . . . . g.91687
gatagatcataacagaacttattctccatctcaagatctgcttctagtgattgtgagtgc c.*960
. . . . . . g.91747
cttgtgggcagaatccttgtcatttcctctttgggtctgtagcaccttgcatagtgcctg c.*1020
. . . . . . g.91807
gcatatagttggtgctcaataaatatggtttgaagtgaattgccctcacatgcttctggc c.*1080
. . . . . . g.91867
aaatctctgtgctggcctgaaaccagtgactcatcttctcacataggtgttgtcaagtga c.*1140
. . . . . . g.91927
tatttgattttgtaaaaataaccagtaggatccaaagaactttagctatttatgttcatc c.*1200
. . . . . . g.91987
ttcaaaaaattattttaggcaaagtccatactccttttaaaacaatatttatgtcctatg c.*1260
. . . . . . g.92047
tttgtgtatagacatgactctactagggcataattagagtttgtgtattatttttccagg c.*1320
. . . . . . g.92107
tttggggatgagtcagtccttgcccatccacaattttgtttgtgaacttataacaggaat c.*1380
. . . . . . g.92167
aagcaaaattcatacctgactagtgttcagaatgtagcattctgtgcgaaaaagtattga c.*1440
. . . . . . g.92227
agattagcttttaaaaactgaaaaaaaaaaatgaatgactcacatagaggttgagccaat c.*1500
. . . . . . g.92287
gactgtggcctcattagattacattgtagttaaacaaagcaatttctccagacttaaaac c.*1560
. . . . . . g.92347
atgatgagttgagctctatcttcatgtactcatcctgaatccttatttttctaaaatagc c.*1620
. . . . . . g.92407
accctttgttaattatttttatggaaattattactctgtcataattaaatcatagctagt c.*1680
. . . . . . g.92467
ataactttacagataacctaaaaagaatagaaaagaagagagagtggctttgtcagtata c.*1740
. . . . . . g.92527
aaaccatgtaaagtcatcatcaagtcatctggatgaatcttgaaacacatttagctgcca c.*1800
. . . . . . g.92587
gttttacaaacctttaatatatcagtgctccagtatataacctcaaacaaatgtaaatag c.*1860
. . . . . . g.92647
aacgaattattttcttgttttgaattgtcaatatattaaatgttgactctttgggagagt c.*1920
. . . . . . g.92707
tgttggcaagtttcaatggtgagaaacattattgtcaacttgaaatgtgttctgtaatgg c.*1980
. . . . . . g.92767
ggacactacaaaaagctagctttccaatgtgtgcatagtattggcaatatgaatatatat c.*2040
. . . . . . g.92827
tatatataatctaatacttattataagctgctccctgtctatgtatttggaaaccttttc c.*2100
. . . . . . g.92887
acaaagggaattgcctaacatgtggacttttacaataaaaatgctgcattctaatccatg c.*2160
. g.92898
gtggcatctca c.*2171
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 29
©2004-2023 Leiden University Medical Center