(used for variant description)
(last modified August 13, 2021)
This file was created to facilitate the description of sequence variants on transcript NM_021956.4 in the GRIK2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000006.11, covering GRIK2 transcript NM_021956.4.
(upstream sequence)
. . . . . g.5053
gctcgcgcggccggacattgtgggtgtgcgtgctggatttctcccggatgctc c.-241
. . . . . . g.5113
tccgactaacatggatgtcccaccattccttgcagtggaaggttgttccttggcgcagtg c.-181
. . . . . . g.5173
agtgaagaacatgcagcgattgctaatgggtttgggaagcggagactccttcctctctct c.-121
. . . . . . g.5233
atgaccatgccgtgatcgtgtctgcggtcaccactcgacgcatcctcatttctacccgaa c.-61
. . . . . . g.5293
cccaggagccgaacgctagatcggggaagtgggtgccgtgcgtgtgggcacagaaacacc c.-1
. . . . . . g.5353
ATGAAGATTATTTTCCCGATTCTAAGTAATCCAGTCTTCAGGCGCACCGTTAAACTCCTG c.60
M K I I F P I L S N P V F R R T V K L L p.20
. . . . . | 02 . g.227968
CTCTGTTTACTGTGGATTGGATATTCTCAAGGAACCACACATGTATTAAGATTTG | GTGGT c.120
L C L L W I G Y S Q G T T H V L R F G | G p.40
. . . . . . g.228028
ATTTTTGAATATGTGGAATCTGGCCCAATGGGAGCTGAGGAACTTGCATTCAGATTTGCT c.180
I F E Y V E S G P M G A E E L A F R F A p.60
. . . . . . g.228088
GTGAACACAATTAACAGAAACAGAACATTGCTACCCAATACTACCCTTACCTATGATACC c.240
V N T I N R N R T L L P N T T L T Y D T p.80
. . . . | 03 . . g.232411
CAGAAGATAAACCTTTATGATAGTTTTGAAGCATCCAAGAAAG | CCTGTGATCAGCTGTCT c.300
Q K I N L Y D S F E A S K K A | C D Q L S p.100
. . . . . . g.232471
CTTGGGGTGGCTGCCATCTTCGGGCCTTCACACAGCTCATCAGCAAACGCAGTGCAGTCC c.360
L G V A A I F G P S H S S S A N A V Q S p.120
. . . . . . g.232531
ATCTGCAATGCTCTGGGAGTTCCCCACATACAGACCCGCTGGAAGCACCAGGTGTCAGAC c.420
I C N A L G V P H I Q T R W K H Q V S D p.140
. . . . . . g.232591
AACAAAGATTCCTTCTATGTCAGTCTCTACCCAGACTTCTCTTCACTCAGCCGTGCCATT c.480
N K D S F Y V S L Y P D F S S L S R A I p.160
. . . . . . g.232651
TTAGACCTGGTGCAGTTTTTCAAGTGGAAAACCGTCACGGTTGTGTATGATGACAGCACT c.540
L D L V Q F F K W K T V T V V Y D D S T p.180
| 04 . . . . . . g.282696
G | GTCTCATTCGTTTGCAAGAGCTCATCAAAGCTCCATCAAGGTATAATCTTCGACTCAAA c.600
G | L I R L Q E L I K A P S R Y N L R L K p.200
. . . . . . g.282756
ATTCGTCAGTTACCTGCTGATACAAAGGATGCAAAACCCTTACTAAAAGAAATGAAAAGA c.660
I R Q L P A D T K D A K P L L K E M K R p.220
. . . . . . g.282816
GGCAAGGAGTTTCATGTAATCTTTGATTGTAGCCATGAAATGGCAGCAGGCATTTTAAAA c.720
G K E F H V I F D C S H E M A A G I L K p.240
| 05 . . . . . | 06. g.292197
CAG | GCATTAGCTATGGGAATGATGACAGAATACTATCATTATATCTTTACCACTCTG | GAC c.780
Q | A L A M G M M T E Y Y H Y I F T T L | D p.260
. . . . . . g.292257
CTCTTTGCTCTTGATGTTGAGCCCTACCGATACAGTGGTGTTAACATGACAGGGTTCAGA c.840
L F A L D V E P Y R Y S G V N M T G F R p.280
. . . . . . g.292317
ATATTAAATACAGAAAATACCCAAGTCTCCTCCATCATTGAAAAGTGGTCGATGGAACGA c.900
I L N T E N T Q V S S I I E K W S M E R p.300
. . . . . | 07 . g.405671
TTGCAGGCACCTCCGAAACCCGATTCAGGTTTGCTGGATGGATTTATGACG | ACTGATGCT c.960
L Q A P P K P D S G L L D G F M T | T D A p.320
. . . . . . g.405731
GCTCTAATGTATGATGCTGTGCATGTGGTGTCTGTGGCCGTTCAACAGTTTCCCCAGATG c.1020
A L M Y D A V H V V S V A V Q Q F P Q M p.340
. . . . . . g.405791
ACAGTCAGTTCCTTGCAGTGTAATCGACATAAACCCTGGCGCTTCGGGACCCGCTTTATG c.1080
T V S S L Q C N R H K P W R F G T R F M p.360
. | 08 . . . . . g.408390
AGTCTAATTAAAGAG | GCACATTGGGAAGGCCTCACAGGCAGAATAACTTTCAACAAAACC c.1140
S L I K E | A H W E G L T G R I T F N K T p.380
. . . . . . g.408450
AATGGCTTGAGAACAGATTTTGATTTGGATGTGATCAGTCTGAAGGAAGAAGGTCTAGAA c.1200
N G L R T D F D L D V I S L K E E G L E p.400
| 09 . . . . . . g.424441
AAG | ATTGGAACGTGGGATCCAGCCAGTGGCCTGAATATGACAGAAAGTCAAAAGGGAAAG c.1260
K | I G T W D P A S G L N M T E S Q K G K p.420
. . . . . | 10. g.465304
CCAGCGAACATCACAGATTCCTTATCCAATCGTTCTTTGATTGTTACCACCATTTTG | GAA c.1320
P A N I T D S L S N R S L I V T T I L | E p.440
. . . . . . g.465364
GAGCCTTATGTCCTTTTTAAGAAGTCTGACAAACCTCTCTATGGTAATGATCGATTTGAA c.1380
E P Y V L F K K S D K P L Y G N D R F E p.460
. . . . . . g.465424
GGCTATTGCATTGATCTCCTCAGAGAGTTATCTACAATCCTTGGCTTTACATATGAAATT c.1440
G Y C I D L L R E L S T I L G F T Y E I p.480
. . . . . . g.465484
AGACTTGTGGAAGATGGGAAATATGGAGCCCAGGATGATGCCAATGGACAATGGAATGGA c.1500
R L V E D G K Y G A Q D D A N G Q W N G p.500
. . | 11 . . . . g.495690
ATGGTTCGTGAACTAATTGATCAT | AAAGCTGACCTTGCAGTTGCTCCACTGGCTATTACC c.1560
M V R E L I D H | K A D L A V A P L A I T p.520
. . . . . . g.495750
TATGTTCGAGAGAAGGTCATCGACTTTTCCAAGCCCTTTATGACACTTGGAATAAGTATT c.1620
Y V R E K V I D F S K P F M T L G I S I p.540
. . . . . . g.495810
TTGTACCGCAAGCCCAATGGTACAAACCCAGGCGTCTTCTCCTTCCTGAATCCTCTCTCC c.1680
L Y R K P N G T N P G V F S F L N P L S p.560
. . . . . . g.495870
CCTGATATCTGGATGTATATTCTGCTGGCTTACTTGGGTGTCAGTTGTGTGCTCTTTGTC c.1740
P D I W M Y I L L A Y L G V S C V L F V p.580
| 12 . . . . . g.530667
ATAGCCAG | GTTTAGTCCTTATGAGTGGTATAATCCACACCCTTGCAACCCTGACTCAGAC c.1800
I A R | F S P Y E W Y N P H P C N P D S D p.600
. . . . . . g.530727
GTGGTGGAAAACAATTTTACCTTGCTAAATAGTTTCTGGTTTGGAGTTGGAGCTCTCATG c.1860
V V E N N F T L L N S F W F G V G A L M p.620
| 13. . . . . . g.534482
CAGCAAG | GTTCTGAGCTCATGCCCAAAGCACTGTCCACCAGGATAGTGGGAGGCATTTGG c.1920
Q Q G | S E L M P K A L S T R I V G G I W p.640
. . . . . . g.534542
TGGTTTTTCACACTTATCATCATTTCTTCGTATACTGCTAACTTAGCCGCCTTTCTGACA c.1980
W F F T L I I I S S Y T A N L A A F L T p.660
. . . . . . g.534602
GTGGAACGCATGGAATCCCCTATTGACTCTGCTGATGATTTAGCTAAACAAACCAAGATA c.2040
V E R M E S P I D S A D D L A K Q T K I p.680
. . . . | 14 . . g.641370
GAATATGGAGCAGTAGAGGATGGTGCAACCATGACTTTTTTCAAG | AAATCAAAAATCTCC c.2100
E Y G A V E D G A T M T F F K | K S K I S p.700
. . . . . . g.641430
ACGTATGACAAAATGTGGGCCTTTATGAGTAGCAGAAGGCAGTCAGTGCTGGTCAAAAGT c.2160
T Y D K M W A F M S S R R Q S V L V K S p.720
. . . . . . g.641490
AATGAAGAAGGAATCCAGCGAGTCCTCACCTCTGATTATGCTTTCCTAATGGAGTCAACA c.2220
N E E G I Q R V L T S D Y A F L M E S T p.740
. . . . . . g.641550
ACCATCGAGTTTGTTACCCAGCGGAACTGTAACCTGACACAGATTGGCGGCCTTATAGAC c.2280
T I E F V T Q R N C N L T Q I G G L I D p.760
. . . | 15 . . . g.661373
TCTAAAGGTTATGGCGTTGGCACTCCCATGG | GTTCTCCATATCGAGACAAAATTACCATA c.2340
S K G Y G V G T P M G | S P Y R D K I T I p.780
. . . . . . g.661433
GCAATTCTTCAGCTGCAAGAGGAAGGCAAACTGCATATGATGAAGGAGAAATGGTGGAGG c.2400
A I L Q L Q E E G K L H M M K E K W W R p.800
. . . . . . g.661493
GGCAATGGTTGCCCAGAAGAGGAGAGCAAAGAGGCCAGTGCCCTGGGGGTTCAGAATATT c.2460
G N G C P E E E S K E A S A L G V Q N I p.820
. . . . . . g.661553
GGTGGCATCTTCATTGTTCTGGCAGCCGGCTTGGTGCTTTCAGTTTTTGTGGCAGTGGGA c.2520
G G I F I V L A A G L V L S V F V A V G p.840
. . . . | 16 . . g.674379
GAATTTTTATACAAATCCAAAAAAAACGCTCAATTGGAAAAG | AGGTCCTTCTGTAGTGCC c.2580
E F L Y K S K K N A Q L E K | R S F C S A p.860
. . . . . . g.674439
ATGGTAGAAGAATTGAGGATGTCCCTGAAGTGCCAGCGTCGGTTAAAACATAAGCCACAG c.2640
M V E E L R M S L K C Q R R L K H K P Q p.880
. . . . . . g.674499
GCCCCAGTTATTGTGAAAACAGAAGAAGTTATCAACATGCACACATTTAACGACAGAAGG c.2700
A P V I V K T E E V I N M H T F N D R R p.900
. . g.674526
TTGCCAGGTAAAGAAACCATGGCATAA c.2727
L P G K E T M A X p.908
. . . . . . g.674586
agctgggaggccaaacacccaagcacaaactgtcgtctttttccaaacaatttagccaga c.*60
. . . . . . g.674646
atgtttcctgtggaaatatgcaacctgtgcaaaataaaatgagttacctcatgccgctgt c.*120
. . . . . . g.674706
gtctatgaactagagactctgtgatctaagcagttgcaatgatcagacttgatttacaag c.*180
. . . . . . g.674766
catcatggatcaaccaagttacacggggttacactgttaatcatgggttcctcccttctt c.*240
. . . . . . g.674826
ctgagtgaatgttaacatgcgcattttgtggctgatttcaaatgcagtccagtgagaaat c.*300
. . . . . . g.674886
tacaggttccttttgaagctcaactgttgccaggagatggaatatcaatgcccaacaggg c.*360
. . . . . . g.674946
caaccaataaaagtgtcactaagaatataaatatttggaatcagcaaaaactgtagtgtt c.*420
. . . . . . g.675006
acaggaaacagtacagtcttctgaacacccagatcatagaggtgatgatgttactagccc c.*480
. . . . . . g.675066
ccaactactcagtataattattgtctgaatgcaaagtatgtgtttataggatgtgaaaaa c.*540
. . . . . . g.675126
atgtaatgcaaaacaaatttgaatcccatggcagttggaatataaagcagatgttcatca c.*600
. . . . . . g.675186
cttattttccttttttcttttcttatttttttttttgacagtctgtgtcactgattgaga c.*660
. . . . . . g.675246
tagaaatgccaattatcaaggaaataatgttttcttaagttccctaaggcagaagattta c.*720
. . . . . . g.675306
acatgcaattctaccagatcccttcctattcccccaacaccttttctctaacccccatat c.*780
. . . . . . g.675366
cccaaataataataataataataataataataataataataataataaaagcagttggtt c.*840
. . . . . . g.675426
cagtgattctgaattaaaaggataatgttttgcaatgttcaagttgtaaaaactggccga c.*900
. . . . . . g.675486
gtattggctgtgtggaagactaaagctttcattctaacattcagacatagcaatccaaac c.*960
. . . . . . g.675546
ccttgttcctgctgtaaatgaacttgatggagcatgggcagatttcagtgatacgagaaa c.*1020
. . . . . . g.675606
ggggactggtcatctatagaaaaatctgtgagagaacttggaagtggactgcgtttatca c.*1080
. . . . . . g.675666
atacagtcacaatgttaaatgaacaaaattcttgaacagttttttttcaaaaaatgttca c.*1140
. . . . . . g.675726
ggtttatttgtggaaatgcaagatttctatgaaaatagtttttgtatggaaatttttgta c.*1200
. . . . . . g.675786
atactttttatcaacaaaacaagaacatgtgttcctgtcaggggtgtgatgtcaagcatg c.*1260
. . . . . . g.675846
aatggtagtgcgtgtgcaccaccaacgtttggtgaaaactatttttatcaagaaaaaagg c.*1320
. . . . . . g.675906
aatcatagaagagaaatattttcaagttagataatataaaagctaggtgcactaccacca c.*1380
. . . . . . g.675966
ctgcttaccatgccacacccctggtttccacgaggctgacaacatactgtaatgaacaat c.*1440
. . . . . . g.676026
tgtgtgtaaaatggtaaaagacacagacctcttgacaacattgtgataacagttgagtgc c.*1500
. . . . . . g.676086
acacagtttgctgtttgaatccaatgcacaaaattaaaaaaaatcattaaaactatgttc c.*1560
. g.676098
attttactttca c.*1572
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 26c
©2004-2021 Leiden University Medical Center