(used for variant description)
(last modified April 30, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_000826.3 in the GRIA2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000004.11, covering GRIA2 transcript NM_000826.3.
(upstream sequence)
. . . g.5039
gagtcgcgcacgcgcgcccgggactgcctgcccctctct c.-421
. . . . . . g.5099
gtgacttgcctgtgtgtgtgcgtgtgtgtatgtgtgtgtgtgtgtgtgtgtgcgcgcgcg c.-361
. . . . . . g.5159
cgtgagtgagagaggagagagggagaagagagcgcgagagagggtgagtgtgtgtgagtg c.-301
. . . . . . g.5219
catgggagggtgctgaatattccgagacactgggaccacagcggcagctccgctgaaaac c.-241
. . . . . . g.5279
tgcattcagccagtcctccggacttctggagcggggacagggcgcagggcatcagcagcc c.-181
. . . . . . g.5339
accagcaggacctgggaaatagggattcttctgcctccacttcaggttttagcagcttgg c.-121
. . . . . . g.5399
tgctaaattgctgtctcaaaatgcagaggatctaatttgcagaggaaaacagccaaagaa c.-61
. . . . . . g.5459
ggaagaggaggaaaaggaaaaaaaaaggggtatattgtggatgctctacttttcttggaa c.-1
. . . . . . g.5519
ATGCAAAAGATTATGCATATTTCTGTCCTCCTTTCTCCTGTTTTATGGGGACTGATTTTT c.60
M Q K I M H I S V L L S P V L W G L I F p.20
. . | 02 . . . g.6115
GGTGTCTCTTCTAACAGCATACAGATAG | GGGGGCTATTTCCTAGGGGCGCCGATCAAGAA c.120
G V S S N S I Q I G | G L F P R G A D Q E p.40
. . . . . . g.6175
TACAGTGCATTTCGAGTAGGGATGGTTCAGTTTTCCACTTCGGAGTTCAGACTGACACCC c.180
Y S A F R V G M V Q F S T S E F R L T P p.60
. . . . | 03 . g.87979
CACATCGACAATTTGGAGGTGGCAAACAGCTTCGCAGTCACTAATGCTT | TCTGCTCCCAG c.240
H I D N L E V A N S F A V T N A F | C S Q p.80
. . . . . . g.88039
TTTTCGAGAGGAGTCTATGCTATTTTTGGATTTTATGACAAGAAGTCTGTAAATACCATC c.300
F S R G V Y A I F G F Y D K K S V N T I p.100
. . . . . . g.88099
ACATCATTTTGCGGAACACTCCACGTCTCCTTCATCACTCCCAGCTTCCCAACAGATGGC c.360
T S F C G T L H V S F I T P S F P T D G p.120
. . . . . . g.88159
ACACATCCATTTGTCATTCAGATGAGACCCGACCTCAAAGGAGCTCTCCTTAGCTTGATT c.420
T H P F V I Q M R P D L K G A L L S L I p.140
. . . . | 04 . g.97106
GAATACTATCAATGGGACAAGTTTGCATACCTCTATGACAGTGACAGAG | GCTTATCAACA c.480
E Y Y Q W D K F A Y L Y D S D R G | L S T p.160
. . . . . . g.97166
CTGCAAGCTGTGCTGGATTCTGCTGCTGAAAAGAAATGGCAAGTGACTGCTATCAATGTG c.540
L Q A V L D S A A E K K W Q V T A I N V p.180
. . . . . . g.97226
GGAAACATTAACAATGACAAGAAAGATGAGATGTACCGATCACTTTTTCAAGATCTGGAG c.600
G N I N N D K K D E M Y R S L F Q D L E p.200
. . . . . . g.97286
TTAAAAAAGGAACGGCGTGTAATTCTGGACTGTGAAAGGGATAAAGTAAACGACATTGTA c.660
L K K E R R V I L D C E R D K V N D I V p.220
| 05 . . . . . . g.102128
GACCAG | GTTATTACCATTGGAAAACATGTTAAAGGGTACCACTACATCATTGCAAATCTG c.720
D Q | V I T I G K H V K G Y H Y I I A N L p.240
| 06 . . . . . . g.105914
| GGATTTACTGATGGAGACCTATTAAAAATCCAGTTTGGAGGTGCAAATGTCTCTGGATTT c.780
| G F T D G D L L K I Q F G G A N V S G F p.260
. . . . . . g.105974
CAGATAGTGGACTATGATGATTCGTTGGTATCTAAATTTATAGAAAGATGGTCAACACTG c.840
Q I V D Y D D S L V S K F I E R W S T L p.280
. . . . | 07 . . g.117253
GAAGAAAAAGAATACCCTGGAGCTCACACAACAACAATTAAG | TATACTTCTGCTCTGACC c.900
E E K E Y P G A H T T T I K | Y T S A L T p.300
. . . . . . g.117313
TATGATGCCGTTCAAGTGATGACTGAAGCCTTCCGCAACCTAAGGAAGCAAAGAATTGAA c.960
Y D A V Q V M T E A F R N L R K Q R I E p.320
. . . . . . g.117373
ATCTCCCGAAGGGGGAATGCAGGAGACTGTCTGGCAAACCCAGCAGTGCCCTGGGGACAA c.1020
I S R R G N A G D C L A N P A V P W G Q p.340
. . . | 08 . . . g.117695
GGTGTAGAAATAGAAAGGGCCCTCAAACAG | GTTCAGGTTGAAGGTCTCTCAGGAAATATA c.1080
G V E I E R A L K Q | V Q V E G L S G N I p.360
. . . . . . g.117755
AAGTTTGACCAGAATGGAAAAAGAATAAACTATACAATTAACATCATGGAGCTCAAAACT c.1140
K F D Q N G K R I N Y T I N I M E L K T p.380
. | 09 . . . . . g.118471
AATGGGCCCCGGAAG | ATTGGCTACTGGAGTGAAGTGGACAAAATGGTTGTTACCCTTACT c.1200
N G P R K | I G Y W S E V D K M V V T L T p.400
. . . . . . g.118531
GAGCTCCCTTCTGGAAATGACACCTCTGGGCTTGAGAATAAGACTGTTGTTGTCACCACA c.1260
E L P S G N D T S G L E N K T V V V T T p.420
| 10 . . . . . . g.120141
ATTTTG | GAATCTCCGTATGTTATGATGAAGAAAAATCATGAAATGCTTGAAGGCAATGAG c.1320
I L | E S P Y V M M K K N H E M L E G N E p.440
. . . . . . g.120201
CGCTATGAGGGCTACTGTGTTGACCTGGCTGCAGAAATCGCCAAACATTGTGGGTTCAAG c.1380
R Y E G Y C V D L A A E I A K H C G F K p.460
. . . . . . g.120261
TACAAGTTGACAATTGTTGGTGATGGCAAGTATGGGGCCAGGGATGCAGACACGAAAATT c.1440
Y K L T I V G D G K Y G A R D A D T K I p.480
. . . | 11 . . . g.120820
TGGAATGGGATGGTTGGAGAACTTGTATATGGG | AAAGCTGATATTGCAATTGCTCCATTA c.1500
W N G M V G E L V Y G | K A D I A I A P L p.500
. . . . . . g.120880
ACTATTACCCTTGTGAGAGAAGAGGTGATTGACTTCTCAAAGCCCTTCATGAGCCTCGGG c.1560
T I T L V R E E V I D F S K P F M S L G p.520
. . . . . . g.120940
ATATCTATCATGATCAAGAAGCCTCAGAAGTCCAAACCAGGAGTGTTTTCCTTTCTTGAT c.1620
I S I M I K K P Q K S K P G V F S F L D p.540
. . . . . . g.121000
CCTTTAGCCTATGAGATCTGGATGTGCATTGTTTTTGCCTACATTGGGGTCAGTGTAGTT c.1680
P L A Y E I W M C I V F A Y I G V S V V p.560
. . . . . . g.121060
TTATTCCTGGTCAGCAGATTTAGCCCCTACGAGTGGCACACTGAGGAGTTTGAAGATGGA c.1740
L F L V S R F S P Y E W H T E E F E D G p.580
. . . . . . g.121120
AGAGAAACACAAAGTAGTGAATCAACTAATGAATTTGGGATTTTTAATAGTCTCTGGTTT c.1800
R E T Q S S E S T N E F G I F N S L W F p.600
. . . . | 12 . . g.125696
TCCTTGGGTGCCTTTATGCAGCAAGGATGCGATATTTCGCCAAG | ATCCCTCTCTGGGCGC c.1860
S L G A F M Q Q G C D I S P R | S L S G R p.620
. . . . . . g.125756
ATTGTTGGAGGTGTGTGGTGGTTCTTTACCCTGATCATAATCTCCTCCTACACGGCTAAC c.1920
I V G G V W W F F T L I I I S S Y T A N p.640
. . . . . . g.125816
TTAGCTGCCTTCCTGACTGTAGAGAGGATGGTGTCTCCCATCGAAAGTGCTGAGGATCTT c.1980
L A A F L T V E R M V S P I E S A E D L p.660
. . . . . . g.125876
TCTAAGCAAACAGAAATTGCTTATGGAACATTAGACTCTGGCTCCACTAAAGAGTTTTTC c.2040
S K Q T E I A Y G T L D S G S T K E F F p.680
| 13 . . . . . . g.144369
AGG | AGATCTAAAATTGCAGTGTTTGATAAAATGTGGACCTACATGCGGAGTGCGGAGCCC c.2100
R | R S K I A V F D K M W T Y M R S A E P p.700
. . . . . . g.144429
TCTGTGTTTGTGAGGACTACGGCCGAAGGGGTGGCTAGAGTGCGGAAGTCCAAAGGGAAA c.2160
S V F V R T T A E G V A R V R K S K G K p.720
. . . . . . g.144489
TATGCCTACTTGTTGGAGTCCACGATGAACGAGTACATTGAGCAAAGGAAGCCTTGCGAC c.2220
Y A Y L L E S T M N E Y I E Q R K P C D p.740
. . . . . . g.144549
ACCATGAAAGTTGGTGGAAACCTGGATTCCAAAGGCTATGGCATCGCAACACCTAAAGGA c.2280
T M K V G G N L D S K G Y G I A T P K G p.760
. | 14 . . . . . g.146003
TCCTCATTAAG | AACCCCAGTAAATCTTGCAGTATTGAAACTCAGTGAGCAAGGCGTCTTA c.2340
S S L R | T P V N L A V L K L S E Q G V L p.780
. . . . . . g.146063
GACAAGCTGAAAAACAAATGGTGGTACGATAAAGGTGAATGTGGAGCCAAGGACTCTGGA c.2400
D K L K N K W W Y D K G E C G A K D S G p.800
| 15 . . . . . . g.147269
AGTAAG | GAAAAGACCAGTGCCCTCAGTCTGAGCAACGTTGCTGGAGTATTCTACATCCTT c.2460
S K | E K T S A L S L S N V A G V F Y I L p.820
. . . . . . g.147329
GTCGGGGGCCTTGGTTTGGCAATGCTGGTGGCTTTGATTGAGTTCTGTTACAAGTCAAGG c.2520
V G G L G L A M L V A L I E F C Y K S R p.840
. . . . . . g.147389
GCCGAGGCGAAACGAATGAAGGTGGCAAAGAATGCACAGAATATTAACCCATCTTCCTCG c.2580
A E A K R M K V A K N A Q N I N P S S S p.860
. . . . . . g.147449
CAGAATTCACAGAATTTTGCAACTTATAAGGAAGGTTACAACGTATATGGCATCGAAAGT c.2640
Q N S Q N F A T Y K E G Y N V Y G I E S p.880
. g.147461
GTTAAAATTTAG | c.2653
V K I X p.883
| 16 . . . . . . g.147908
ggg | atgaccttgaatgatgccatgaggaacaaggcaaggctgtcaattacaggaagtact c.*60
. . . . . . g.147968
ggagaaaatggacgtgttatgactccagaatttcccaaagcagtgcatgctgtcccttac c.*120
. . . . . . g.148028
gtgagtcctggcatgggaatgaatgtcagtgtgactgatctctcgtgattgataagaacc c.*180
. . . . . . g.148088
ttttgagtgccttacacaatggttttcttgtgtgtttattgtcaaagtggtgagaggcat c.*240
. . . . . . g.148148
ccagtatcttgaagacttttctttcagccaagaattcttaaatatgtggagttcatcttg c.*300
. . . . . . g.148208
aattgtaaggaatgattaattaaaacacaacatctttttctactcgagttacagacaaag c.*360
. . . . . . g.148268
cgtggtggacatgcacagctaacatggaagtactataatttacctgaagtctttgtacag c.*420
. . . . . . g.148328
acaacaaacctgtttctgcagccactattgttagtctcttgattcataatgacttaagca c.*480
. . . . . . g.148388
cacttgacatcaactgcatcaagatgtgacatgttttataaaaaaaggaaaaaaaacatt c.*540
. . . . . . g.148448
taaaactaaaaaatatttttaggtattttcacaaacaaactggcttttaaataaatttgc c.*600
. . . . . . g.148508
ttccatattggttgaataagacaaaaacaattaaactgagtgggaagtgaataaaaaaag c.*660
. . . . . . g.148568
gctttaggtatcgattccatatttttcaaagccaaatatgtaaatgctaaggaaagtaaa c.*720
. . . . . . g.148628
caaagaggagattccaatcttgtaatttaatattgttattaaaactttaatgtatcctat c.*780
. . . . . . g.148688
tctttaacatttggtgttaatataaaattacttggcaatgcttgacatttgaaataaaca c.*840
. . . . . . g.148748
tttttctattgttttattgcaagtggtccaattaattttgcttagctacagtttggtcat c.*900
. . . . . . g.148808
aaatcaagtgagtttaaagacactaccaagttgttaggtgcccagagaaaatttctccct c.*960
. . . . . . g.148868
tttaaaaaggccaggtgatttttcaaatgtaatcttgcccccaaagtaatatctgaatat c.*1020
. . . . . . g.148928
ctttttgacatgtctaaatatatatatatataaagaaatatttgttaacacaaaagcatt c.*1080
. . . . . . g.148988
tgatctatgtagataaatgctaatagatttaaaaagctaatattaacaaataccagaata c.*1140
. . . . . . g.149048
cgtgaagttccatttttaaagtgtttgagcttacagaagagaaacattcattttaaatga c.*1200
. . . . . . g.149108
agtaaaaaatgccttgaaagtaattctttagatagttgcccattgattaaattccaaaaa c.*1260
. . . . . . g.149168
ctaaatatgtttttagctttaaaattataaaagctgtcataaactttatatattatgaat c.*1320
. . . . . . g.149228
tttaaaatatgtttgagtctcctgcaatatagtttcatcccattgacatcaattaaaaat c.*1380
. . . . . . g.149288
aaccctaatatattatttttatatttattcctcaggtggaatggctattttaatatgccc c.*1440
. . . . . . g.149348
agtgtggataaaatgtcacatttctgtaacttttgactaaagagcctatatttatctagt c.*1500
. . . . . . g.149408
taatgaatttaaaggatctatctttcccttcataaaatacctcttatttccattaaagcc c.*1560
. . . . . . g.149468
ccccaagtttaattaatttaggattttgaatgattattgacatccaatagttatttttaa c.*1620
. . . . . . g.149528
tatttgtattcttgttatttctggaagaaagcctttgtgtagcacttggtattttgcaaa c.*1680
. . . . . . g.149588
gtgcttttaaaacattcttacttaccgtatttcatagaagggaaggaaaaatgtaaggtt c.*1740
. . . . . . g.149648
taacagtaagcacttgcattgaacatggaggcatgtggtatcatgatattcttcactaaa c.*1800
. . . . . . g.149708
tttagctgtccctaatcacagatcctaaggtaatataatataattttagtgcatttctcc c.*1860
. . . . . . g.149768
tcatcaggaatgctggaggtgcattttaagttttaataataagtgctagaatgaccaaat c.*1920
. . . . . . g.149828
tgcagactaattgtttccatattgtacttaaaatgagtttttaaaagtgaaaaagaaatg c.*1980
. . . . . . g.149888
actatatacaatcaatgctatttattgtacctctgggcctactcttctaaaaattgtagc c.*2040
. . . . . . g.149948
ttatcgatttttctctgtcaagcttgaactaatgtaaataattgaaataatgtaaagtta c.*2100
. . . . . . g.150008
tattttcatgtttttatagatacaacatgacaagaatacataatgtaagagtatttcaac c.*2160
. . . . . . g.150068
tatggataatgttgattggataatgcacatctcagttacaagcagtactcatagtttaat c.*2220
. . . . . . g.150128
atccatgtaacggtgcatcaatatattgctatataaatatgtctgtgtgcatataagtga c.*2280
. . . . . . g.150188
aaagtggtcaaacaagagtgatgacagctgtctaaaggtttttttattcattttatataa c.*2340
. . . . . . g.150248
aaactgttatggaaagaccaaaatgtttatgaactattcttatgtaaatttacaattgtc c.*2400
. . . . . . g.150308
ctttactgtacttttttgtttacagtatagtaccttattttctgctgtgttaagtgggtg c.*2460
. . . . . . g.150368
tcaaactccaagaagacatacactttctataacttctattgaagatattggaatttccaa c.*2520
. . . . . . g.150428
tttttcatgtgtactatgtcagaaaatgctttcgattttatttttaaatctaacatcgga c.*2580
. . . . . . g.150488
tggcttttccggagtgttgtaaaaacttcaatcatacataaaacatgttcttacaaaagg c.*2640
g.150492
caaa c.*2644
(downstream sequence)
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