(used for variant description)
(last modified July 1, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_000834.3 in the GRIN2B gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_031854.1, covering GRIN2B transcript NM_000834.3.
(upstream sequence)
. . . . . g.5059
taaaacaaaatttacgctaaattggattttaaattatcttccgttcatttatccttcgt c.-121
. . . . . . g.5119
ctttcttatgtggatatgcaagcgagaagaagggactggacattcccaacatgctcactc c.-61
. . . . . | 02 . g.118880
ccttaatctgtccgtctagaggtttggcttctacaaaccaag | ggagtcgacgagttgaag c.-1
. . . . . . g.118940
ATGAAGCCCAGAGCGGAGTGCTGTTCTCCCAAGTTCTGGTTGGTGTTGGCCGTCCTGGCC c.60
M K P R A E C C S P K F W L V L A V L A p.20
. . . . . . g.119000
GTGTCAGGCAGCAGAGCTCGTTCTCAGAAGAGCCCCCCCAGCATTGGCATTGCTGTCATC c.120
V S G S R A R S Q K S P P S I G I A V I p.40
. . . . . . g.119060
CTCGTGGGCACTTCCGACGAGGTGGCCATCAAGGATGCCCACGAGAAAGATGATTTCCAC c.180
L V G T S D E V A I K D A H E K D D F H p.60
. . . . . . g.119120
CATCTCTCCGTGGTACCCCGGGTGGAACTGGTAGCCATGAATGAGACCGACCCAAAGAGC c.240
H L S V V P R V E L V A M N E T D P K S p.80
. . . . . . g.119180
ATCATCACCCGCATCTGTGATCTCATGTCTGACCGGAAGATCCAGGGGGTGGTGTTTGCT c.300
I I T R I C D L M S D R K I Q G V V F A p.100
. . . . . . g.119240
GATGACACAGACCAGGAAGCCATCGCCCAGATCCTCGATTTCATTTCAGCACAGACTCTC c.360
D D T D Q E A I A Q I L D F I S A Q T L p.120
. . . . . | 03 . g.231182
ACCCCCATCCTGGGCATCCACGGGGGCTCCTCTATGATAATGGCAGATAAG | GATGAATCC c.420
T P I L G I H G G S S M I M A D K | D E S p.140
. . . . . . g.231242
TCCATGTTCTTCCAGTTTGGCCCATCAATTGAACAGCAAGCTTCCGTAATGCTCAACATC c.480
S M F F Q F G P S I E Q Q A S V M L N I p.160
. . . . . . g.231302
ATGGAAGAATATGACTGGTACATCTTTTCTATCGTCACCACCTATTTCCCTGGCTACCAG c.540
M E E Y D W Y I F S I V T T Y F P G Y Q p.180
. . . . . . g.231362
GACTTTGTAAACAAGATCCGCAGCACCATTGAGAATAGCTTTGTGGGCTGGGAGCTAGAG c.600
D F V N K I R S T I E N S F V G W E L E p.200
. . . . . . g.231422
GAGGTCCTCCTACTGGACATGTCCCTGGACGATGGAGATTCTAAGATCCAGAATCAGCTC c.660
E V L L L D M S L D D G D S K I Q N Q L p.220
. . . . . . g.231482
AAGAAACTTCAAAGCCCCATCATTCTTCTTTACTGTACCAAGGAAGAAGCCACCTACATC c.720
K K L Q S P I I L L Y C T K E E A T Y I p.240
. . . . . . g.231542
TTTGAAGTGGCCAACTCAGTAGGGCTGACTGGCTATGGCTACACGTGGATCGTGCCCAGT c.780
F E V A N S V G L T G Y G Y T W I V P S p.260
. . . . . . g.231602
CTGGTGGCAGGGGATACAGACACAGTGCCTGCGGAGTTCCCCACTGGGCTCATCTCTGTA c.840
L V A G D T D T V P A E F P T G L I S V p.280
. . . . . . g.231662
TCATATGATGAATGGGACTATGGCCTCCCCGCCAGAGTGAGAGATGGAATTGCCATAATC c.900
S Y D E W D Y G L P A R V R D G I A I I p.300
. . . . . . g.231722
ACCACTGCTGCTTCTGACATGCTGTCTGAGCACAGCTTCATCCCTGAGCCCAAAAGCAGT c.960
T T A A S D M L S E H S F I P E P K S S p.320
. . . . . | 04 . g.309239
TGTTACAACACCCACGAGAAGAGAATCTACCAGTCCAATATGCTAAATAG | GTATCTGATC c.1020
C Y N T H E K R I Y Q S N M L N R | Y L I p.340
. . . . . . g.309299
AATGTCACTTTTGAGGGGAGGAATTTGTCCTTCAGTGAAGATGGCTACCAGATGCACCCG c.1080
N V T F E G R N L S F S E D G Y Q M H P p.360
. . . . | 05 . . g.368446
AAACTGGTGATAATTCTTCTGAACAAGGAGAGGAAGTGGGAAAGG | GTGGGGAAGTGGAAA c.1140
K L V I I L L N K E R K W E R | V G K W K p.380
. . . . . . g.368506
GACAAGTCCCTGCAGATGAAGTACTATGTGTGGCCCCGAATGTGTCCAGAGACTGAAGAG c.1200
D K S L Q M K Y Y V W P R M C P E T E E p.400
. . . . . . g.368566
CAGGAGGATGACCATCTGAGCATTGTGACCCTGGAGGAGGCACCATTTGTCATTGTGGAA c.1260
Q E D D H L S I V T L E E A P F V I V E p.420
. . . . . . g.368626
AGTGTGGACCCTCTGAGTGGAACCTGCATGAGGAACACAGTCCCCTGCCAAAAACGCATA c.1320
S V D P L S G T C M R N T V P C Q K R I p.440
| 06 . . . . . g.369476
GTCACTGA | GAATAAAACAGACGAGGAGCCGGGTTACATCAAAAAATGCTGCAAGGGGTTC c.1380
V T E | N K T D E E P G Y I K K C C K G F p.460
. . . . . . g.369536
TGTATTGACATCCTTAAGAAAATTTCTAAATCTGTGAAGTTCACCTATGACCTTTACCTG c.1440
C I D I L K K I S K S V K F T Y D L Y L p.480
. . . . . . g.369596
GTTACCAATGGCAAGCATGGGAAGAAAATCAATGGAACCTGGAATGGTATGATTGGAGAG c.1500
V T N G K H G K K I N G T W N G M I G E p.500
| 07 . . . . . . g.369881
| GTGGTCATGAAGAGGGCCTACATGGCAGTGGGCTCACTCACCATCAATGAGGAACGATCG c.1560
| V V M K R A Y M A V G S L T I N E E R S p.520
. . . . . . g.369941
GAGGTGGTCGACTTCTCTGTGCCCTTCATAGAGACAGGCATCAGTGTCATGGTGTCACGC c.1620
E V V D F S V P F I E T G I S V M V S R p.540
. . . | 08 . . . g.373264
AGCAATGGGACTGTCTCACCTTCTGCCTTCTTAG | AGCCATTCAGCGCTGACGTATGGGTG c.1680
S N G T V S P S A F L E | P F S A D V W V p.560
. . . . . . g.373324
ATGATGTTTGTGATGCTGCTCATCGTCTCAGCCGTGGCTGTCTTTGTCTTTGAGTACTTC c.1740
M M F V M L L I V S A V A V F V F E Y F p.580
. . . . | 09 . . g.376276
AGCCCTGTGGGTTATAACAGGTGCCTCGCTGATGGCAGAG | AGCCTGGTGGACCCTCTTTC c.1800
S P V G Y N R C L A D G R E | P G G P S F p.600
. . . . . . g.376336
ACCATCGGCAAAGCTATTTGGTTGCTCTGGGGTCTGGTGTTTAACAACTCCGTACCTGTG c.1860
T I G K A I W L L W G L V F N N S V P V p.620
. . . . . . g.376396
CAGAACCCAAAGGGGACCACCTCCAAGATCATGGTGTCAGTGTGGGCCTTCTTTGCTGTC c.1920
Q N P K G T T S K I M V S V W A F F A V p.640
. . . . . . g.376456
ATCTTCCTGGCCAGCTACACTGCCAACTTAGCTGCCTTCATGATCCAAGAGGAATATGTG c.1980
I F L A S Y T A N L A A F M I Q E E Y V p.660
. . . | 10 . . . g.413154
GACCAGGTTTCTGGCCTGAGCGACAAAAAG | TTCCAGAGACCTAATGACTTCTCACCCCCT c.2040
D Q V S G L S D K K | F Q R P N D F S P P p.680
. . . . . . g.413214
TTCCGCTTTGGGACCGTGCCCAACGGCAGCACAGAGAGAAATATTCGCAATAACTATGCA c.2100
F R F G T V P N G S T E R N I R N N Y A p.700
. . . . . . g.413274
GAAATGCATGCCTACATGGGAAAGTTCAACCAGAGGGGTGTAGATGATGCATTGCTCTCC c.2160
E M H A Y M G K F N Q R G V D D A L L S p.720
. | 11 . . . . . g.415120
CTGAAAACAGG | GAAACTGGATGCCTTCATCTATGATGCAGCAGTGCTGAACTATATGGCA c.2220
L K T G | K L D A F I Y D A A V L N Y M A p.740
. . . . . . g.415180
GGCAGAGATGAAGGCTGCAAGCTGGTGACCATTGGCAGTGGGAAGGTCTTTGCTTCCACT c.2280
G R D E G C K L V T I G S G K V F A S T p.760
. . . . . . g.415240
GGCTATGGCATTGCCATCCAAAAAGATTCTGGGTGGAAGCGCCAGGTGGACCTTGCTATC c.2340
G Y G I A I Q K D S G W K R Q V D L A I p.780
. | 12 . . . . g.417866
CTGCAGCTCTTTGGAGATG | GGGAGATGGAAGAACTGGAAGCTCTCTGGCTCACTGGCATT c.2400
L Q L F G D G | E M E E L E A L W L T G I p.800
. . . . . . g.417926
TGTCACAATGAGAAGAATGAGGTCATGAGCAGCCAGCTGGACATTGACAACATGGCAGGG c.2460
C H N E K N E V M S S Q L D I D N M A G p.820
. . . . . . g.417986
GTCTTCTACATGTTGGGGGCGGCCATGGCTCTCAGCCTCATCACCTTCATCTGCGAACAC c.2520
V F Y M L G A A M A L S L I T F I C E H p.840
. . . . . . g.418046
CTTTTCTATTGGCAGTTCCGACATTGCTTTATGGGTGTCTGTTCTGGCAAGCCTGGCATG c.2580
L F Y W Q F R H C F M G V C S G K P G M p.860
. | 13 . . . . g.420491
GTCTTCTCCATCAGCAGA | GGTATCTACAGCTGCATCCATGGGGTGGCGATCGAGGAGCGC c.2640
V F S I S R | G I Y S C I H G V A I E E R p.880
. . . . . . g.420551
CAGTCTGTAATGAACTCCCCCACCGCAACCATGAACAACACACACTCCAACATCCTGCGC c.2700
Q S V M N S P T A T M N N T H S N I L R p.900
. . . . . . g.420611
CTGCTGCGCACGGCCAAGAACATGGCTAACCTGTCTGGTGTGAATGGCTCACCGCAGAGC c.2760
L L R T A K N M A N L S G V N G S P Q S p.920
. . . . . . g.420671
GCCCTGGACTTCATCCGACGGGAGTCATCCGTCTATGACATCTCAGAGCACCGCCGCAGC c.2820
A L D F I R R E S S V Y D I S E H R R S p.940
. . . . . . g.420731
TTCACGCATTCTGACTGCAAATCCTACAACAACCCGCCCTGTGAGGAGAACCTCTTCAGT c.2880
F T H S D C K S Y N N P P C E E N L F S p.960
. . . . . . g.420791
GACTACATCAGTGAGGTAGAGAGAACGTTCGGGAACCTGCAGCTGAAGGACAGCAACGTG c.2940
D Y I S E V E R T F G N L Q L K D S N V p.980
. . . . . . g.420851
TACCAAGATCACTACCACCATCACCACCGGCCCCATAGTATTGGCAGTGCCAGCTCCATC c.3000
Y Q D H Y H H H H R P H S I G S A S S I p.1000
. . . . . . g.420911
GATGGGCTCTACGACTGTGACAACCCACCCTTCACCACCCAGTCCAGGTCCATCAGCAAG c.3060
D G L Y D C D N P P F T T Q S R S I S K p.1020
. . . . . . g.420971
AAGCCCCTGGACATCGGCCTCCCCTCCTCCAAGCACAGCCAGCTCAGTGACCTGTACGGC c.3120
K P L D I G L P S S K H S Q L S D L Y G p.1040
. . . . . . g.421031
AAATTCTCCTTCAAGAGCGACCGCTACAGTGGCCACGACGACTTGATCCGCTCCGATGTC c.3180
K F S F K S D R Y S G H D D L I R S D V p.1060
. . . . . . g.421091
TCTGACATCTCAACCCACACCGTCACCTATGGGAACATCGAGGGCAATGCCGCCAAGAGG c.3240
S D I S T H T V T Y G N I E G N A A K R p.1080
. . . . . . g.421151
CGTAAGCAGCAATATAAGGACAGCCTGAAGAAGCGGCCTGCCTCGGCCAAGTCCCGCAGG c.3300
R K Q Q Y K D S L K K R P A S A K S R R p.1100
. . . . . . g.421211
GAGTTTGACGAGATCGAGCTGGCCTACCGTCGCCGACCGCCCCGCTCCCCTGACCACAAG c.3360
E F D E I E L A Y R R R P P R S P D H K p.1120
. . . . . . g.421271
CGCTACTTCAGGGACAAGGAAGGGCTACGGGACTTCTACCTGGACCAGTTCCGAACAAAG c.3420
R Y F R D K E G L R D F Y L D Q F R T K p.1140
. . . . . . g.421331
GAGAACTCACCCCACTGGGAGCACGTAGACCTGACCGACATCTACAAGGAGCGGAGTGAT c.3480
E N S P H W E H V D L T D I Y K E R S D p.1160
. . . . . . g.421391
GACTTTAAGCGCGACTCCGTCAGCGGAGGAGGGCCCTGTACCAACAGGTCTCACATCAAG c.3540
D F K R D S V S G G G P C T N R S H I K p.1180
. . . . . . g.421451
CACGGGACGGGCGACAAACACGGCGTGGTCAGCGGGGTACCTGCACCTTGGGAGAAGAAC c.3600
H G T G D K H G V V S G V P A P W E K N p.1200
. . . . . . g.421511
CTGACCAACGTGGAGTGGGAGGACCGGTCCGGGGGCAACTTCTGCCGCAGCTGTCCCTCC c.3660
L T N V E W E D R S G G N F C R S C P S p.1220
. . . . . . g.421571
AAGCTGCACAACTACTCCACGACGGTGACGGGTCAGAACTCGGGCAGGCAGGCGTGCATC c.3720
K L H N Y S T T V T G Q N S G R Q A C I p.1240
. . . . . . g.421631
CGGTGTGAGGCTTGCAAGAAAGCAGGCAACCTGTATGACATCAGTGAGGACAACTCCCTG c.3780
R C E A C K K A G N L Y D I S E D N S L p.1260
. . . . . . g.421691
CAGGAACTGGACCAGCCGGCTGCCCCAGTGGCGGTGACGTCAAACGCCTCCACCACTAAG c.3840
Q E L D Q P A A P V A V T S N A S T T K p.1280
. . . . . . g.421751
TACCCTCAGAGCCCGACTAATTCCAAGGCCCAGAAGAAGAACCGGAACAAACTGCGCCGG c.3900
Y P Q S P T N S K A Q K K N R N K L R R p.1300
. . . . . . g.421811
CAGCACTCCTACGACACCTTCGTGGACCTGCAGAAGGAAGAAGCCGCCCTGGCCCCGCGC c.3960
Q H S Y D T F V D L Q K E E A A L A P R p.1320
. . . . . . g.421871
AGCGTAAGCCTGAAAGACAAGGGCCGATTCATGGATGGGAGCCCCTACGCCCACATGTTT c.4020
S V S L K D K G R F M D G S P Y A H M F p.1340
. . . . . . g.421931
GAGATGTCAGCTGGCGAGAGCACCTTTGCCAACAACAAGTCCTCAGTGCCCACTGCCGGA c.4080
E M S A G E S T F A N N K S S V P T A G p.1360
. . . . . . g.421991
CATCACCACCACAACAACCCCGGCGGCGGGTACATGCTCAGCAAGTCGCTCTACCCTGAC c.4140
H H H H N N P G G G Y M L S K S L Y P D p.1380
. . . . . . g.422051
CGGGTCACGCAAAACCCTTTCATCCCCACTTTTGGGGACGACCAGTGCTTGCTCCATGGC c.4200
R V T Q N P F I P T F G D D Q C L L H G p.1400
. . . . . . g.422111
AGCAAATCCTACTTCTTCAGGCAGCCCACGGTGGCGGGGGCGTCGAAAGCCAGGCCGGAC c.4260
S K S Y F F R Q P T V A G A S K A R P D p.1420
. . . . . . g.422171
TTCCGGGCCCTTGTCACCAACAAGCCGGTGGTCTCGGCCCTTCATGGGGCCGTGCCAGCC c.4320
F R A L V T N K P V V S A L H G A V P A p.1440
. . . . . . g.422231
CGTTTCCAGAAGGACATCTGTATAGGGAACCAGTCCAACCCCTGTGTGCCTAACAACAAA c.4380
R F Q K D I C I G N Q S N P C V P N N K p.1460
. . . . . . g.422291
AACCCCAGGGCTTTCAATGGCTCCAGCAATGGGCATGTTTATGAGAAACTTTCTAGTATT c.4440
N P R A F N G S S N G H V Y E K L S S I p.1480
. g.422306
GAGTCTGATGTCTGA c.4455
E S D V X p.1484
. . . . . . g.422366
gtgagggaacagagaggttaaggtgggtacgggagggtaaggctgtgggtcgcgtgatgc c.*60
. . . . . . g.422426
gcatgtcacggagggtgacgggggtgaacttggttcccatttgctcctttcttgttttaa c.*120
. . . . . . g.422486
tttatttatgggatcctggagttctggttcctactgggggcaaccctggtgaccagcacc c.*180
. . . . . . g.422546
atctctcctccttttcacagttctctccttcttccccccgctgtcagccattcctgttcc c.*240
. . . . . . g.422606
catgagatgatgccatgggccctctcagcaggggagggtagagcggagaaaggaagggct c.*300
. . . . . . g.422666
gcatgcgggcttcctcctggtgtggaagagctccttgatatcctctttgagtgaagctgg c.*360
. . . . . . g.422726
gagaaccaaaaagaggctatgtgagcacaaaggtagcttttcccaaactgatcttttcat c.*420
. . . . . . g.422786
ttaggtgaggaagcaaaagcatctatgtgagaccatttagcacactgcttgtgaaaggaa c.*480
. . . . . . g.422846
agaggctctggctaaattcatgctgcttagatgacatctgtctaggaatcatgtgccaag c.*540
. . . . . . g.422906
cagaggttgggaggccatttgtgtttatatataagccaaaaaatgcttgcttcaacccca c.*600
. . . . . . g.422966
tgagactcgatagtggtggtgaacagaacaaaaggtcattggtggcagagtggattcttg c.*660
. . . . . . g.423026
aacaaactggaaagtacgttatgatagtgtcccacggtgccttggggacaagagcaggtg c.*720
. . . . . . g.423086
gattgtgcgtgcatgtgtgttcatgcacacttgcacccatgtgtagtcaggtgcctcaag c.*780
. . . . . . g.423146
agaaggcaaccttgactctttctattgtttctttcaatatccccaagcagtgtgattgtt c.*840
. . . . . . g.423206
tggcttatatacagacagagatggccatgtattacctgaattttggctgtgtctcccttc c.*900
. . . . . . g.423266
atccttctggaataaggagaatgaaaattcttgataaagaagattctgtggtctaaacaa c.*960
. . . . . . g.423326
aaaaaggcggtgagcaatcctgcaagaacaaggtacataaacaagtcctcagtggttggc c.*1020
. . . . . . g.423386
aattgtttcaaccagtttgaaccaagaactttccaggaaggctaaagggaaaccgaattt c.*1080
. . . . . . g.423446
tcacagccatgattcttttgcccacacttgggagcaaaagattctacaaagctcttttga c.*1140
. . . . . . g.423506
gcatttagactctcgactggccaaggtttggggaagaacgaagccacctttgaagaagta c.*1200
. . . . . . g.423566
aggagtcgtgtatggtagggtaagtgagagagggggatgtttccaatgctttgatccctt c.*1260
. . . . g.423613
cttacttaacctgaagctagacgagcaggcttcttccccccaaaact c.*1307
(downstream sequence)
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