(used for variant description)
(last modified January 20, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_000268.3 in the NF2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_009057.1, covering NF2 transcript NM_000268.3.
(upstream sequence)
. . g.5023
tgcgcttcccgcgggcgcgcgga c.-421
. . . . . . g.5083
gtgaggacggtgacagccacgcgcgcgcgtacgcgcccgatgcagcgcggccccgtgacc c.-361
. . . . . . g.5143
ctagtcggccgctgagaggcgcgcggagtctgggccgctgccgtctaggggtcccgtccc c.-301
. . . . . . g.5203
gaggcgtccccggcatctccggcccgaatcccggagtgccgggtcgcgcctgcaccgaag c.-241
. . . . . . g.5263
gtcccggctcctgtgccctccctgcagccgtcagggcccgtcccccaactcccctttccg c.-181
. . . . . . g.5323
ctcaggcagggtcctcgcggcccatgctggccgctggggacccgcgcagcccagaccgtt c.-121
. . . . . . g.5383
cccgggccgggcagccggccaccatggtggccctgaggcctgtgcagcaactccaggggg c.-61
. . . . . . g.5443
gctaaagggctcagagtgcaggccgtggggcgcgagggtcccgggcctgagccccgcgcc c.-1
. . . . . . g.5503
ATGGCCGGGGCCATCGCTTCCCGCATGAGCTTCAGCTCTCTCAAGAGGAAGCAACCCAAG c.60
M A G A I A S R M S F S S L K R K Q P K p.20
. . . . . | 02 . g.38201
ACGTTCACCGTGAGGATCGTCACCATGGACGCCGAGATGGAGTTCAATTGCGAG | ATGAAG c.120
T F T V R I V T M D A E M E F N C E | M K p.40
. . . . . . g.38261
TGGAAAGGGAAGGACCTCTTTGATTTGGTGTGCCGGACTCTGGGGCTCCGAGAAACCTGG c.180
W K G K D L F D L V C R T L G L R E T W p.60
. . . . . . g.38321
TTCTTTGGACTGCAGTACACAATCAAGGACACAGTGGCCTGGCTCAAAATGGACAAGAAG c.240
F F G L Q Y T I K D T V A W L K M D K K p.80
| 03 . . . . . . g.40594
| GTACTGGATCATGATGTTTCAAAGGAAGAACCAGTCACCTTTCACTTCTTGGCCAAATTT c.300
| V L D H D V S K E E P V T F H F L A K F p.100
. . . . . . g.40654
TATCCTGAGAATGCTGAAGAGGAGCTGGTTCAGGAGATCACACAACATTTATTCTTCTTA c.360
Y P E N A E E E L V Q E I T Q H L F F L p.120
| 04 . . . . . . g.43703
CAG | GTAAAGAAGCAGATTTTAGATGAAAAGATCTACTGCCCTCCTGAGGCTTCTGTGCTC c.420
Q | V K K Q I L D E K I Y C P P E A S V L p.140
. . | 05. . . . g.56134
CTGGCTTCTTACGCCGTCCAGGCCAAG | TATGGTGACTACGACCCCAGTGTTCACAAGCGG c.480
L A S Y A V Q A K | Y G D Y D P S V H K R p.160
. . . | 06 . . . g.57062
GGATTTTTGGCCCAAGAGGAATTGCTTCCAAAAAGG | GTAATAAATCTGTATCAGATGACT c.540
G F L A Q E E L L P K R | V I N L Y Q M T p.180
. . . . . | 07 g.59634
CCGGAAATGTGGGAGGAGAGAATTACTGCTTGGTACGCAGAGCACCGAGGCCGAGCCAG | G c.600
P E M W E E R I T A W Y A E H R G R A R | p.200
. . . . . . g.59694
GATGAAGCTGAAATGGAATATCTGAAGATAGCTCAGGACCTGGAGATGTACGGTGTGAAC c.660
D E A E M E Y L K I A Q D L E M Y G V N p.220
. | 08 . . . . . g.62694
TACTTTGCAATCCGG | AATAAAAAGGGCACAGAGCTGCTGCTTGGAGTGGATGCCCTGGGG c.720
Y F A I R | N K K G T E L L L G V D A L G p.240
. . . . . . g.62754
CTTCACATTTATGACCCTGAGAACAGACTGACCCCCAAGATCTCCTTCCCGTGGAATGAA c.780
L H I Y D P E N R L T P K I S F P W N E p.260
. . . | 09 . . . g.66464
ATCCGAAACATCTCGTACAGTGACAAGGAG | TTTACTATTAAACCACTGGATAAGAAAATT c.840
I R N I S Y S D K E | F T I K P L D K K I p.280
. . . . | 10 . . g.69792
GATGTCTTCAAGTTTAACTCCTCAAAGCTTCGTGTTAATAAGCTG | ATTCTCCAGCTATGT c.900
D V F K F N S S K L R V N K L | I L Q L C p.300
. . . . . . g.69852
ATCGGGAACCATGATCTATTTATGAGGAGAAGGAAAGCCGATTCTTTGGAAGTTCAGCAG c.960
I G N H D L F M R R R K A D S L E V Q Q p.320
. . . | 11 . . g.73291
ATGAAAGCCCAGGCCAGGGAGGAGAAGGCTAGAAAGCAG | ATGGAGCGGCAGCGCCTCGCT c.1020
M K A Q A R E E K A R K Q | M E R Q R L A p.340
. . . . . . g.73351
CGAGAGAAGCAGATGAGGGAGGAGGCTGAACGCACGAGGGATGAGTTGGAGAGGAGGCTG c.1080
R E K Q M R E E A E R T R D E L E R R L p.360
. . . . | 12 . . g.74731
CTGCAGATGAAAGAAGAAGCAACAATGGCCAACGAAGCACTG | ATGCGGTCTGAGGAGACA c.1140
L Q M K E E A T M A N E A L | M R S E E T p.380
. . . . . . g.74791
GCTGACCTGTTGGCTGAAAAGGCCCAGATCACCGAGGAGGAGGCAAAACTTCTGGCCCAG c.1200
A D L L A E K A Q I T E E E A K L L A Q p.400
. . . . . . g.74851
AAGGCCGCAGAGGCTGAGCAGGAAATGCAGCGCATCAAGGCCACAGCGATTCGCACGGAG c.1260
K A A E A E Q E M Q R I K A T A I R T E p.420
. . . . . . g.74911
GAGGAGAAGCGCCTGATGGAGCAGAAGGTGCTGGAAGCCGAGGTGCTGGCACTGAAGATG c.1320
E E K R L M E Q K V L E A E V L A L K M p.440
. . | 13 . . . . g.76320
GCTGAGGAGTCAGAGAGGAG | GGCCAAAGAGGCAGATCAGCTGAAGCAGGACCTGCAGGAA c.1380
A E E S E R R | A K E A D Q L K Q D L Q E p.460
. . . . . . g.76380
GCACGCGAGGCGGAGCGAAGAGCCAAGCAGAAGCTCCTGGAGATTGCCACCAAGCCCACG c.1440
A R E A E R R A K Q K L L E I A T K P T p.480
| 14 . . . . . . g.79694
TACCCG | CCCATGAACCCAATTCCAGCACCGTTGCCTCCTGACATACCAAGCTTCAACCTC c.1500
Y P | P M N P I P A P L P P D I P S F N L p.500
. . . . . . g.79754
ATTGGTGACAGCCTGTCTTTCGACTTCAAAGATACTGACATGAAGCGGCTTTCCATGGAG c.1560
I G D S L S F D F K D T D M K R L S M E p.520
. | 15 . . . . . g.82929
ATAGAGAAAGAAAA | AGTGGAATACATGGAAAAGAGCAAGCATCTGCAGGAGCAGCTCAAT c.1620
I E K E K | V E Y M E K S K H L Q E Q L N p.540
. . . . . . g.82989
GAACTCAAGACAGAAATCGAGGCCTTGAAACTGAAAGAGAGGGAGACAGCTCTGGATATT c.1680
E L K T E I E A L K L K E R E T A L D I p.560
. . . . . | 16. g.96199
CTGCACAATGAGAACTCCGACAGGGGTGGCAGCAGCAAGCACAATACCATTAAAAAG | CTC c.1740
L H N E N S D R G G S S K H N T I K K | L p.580
. . . . g.96247
ACCTTGCAGAGCGCCAAGTCCCGAGTGGCCTTCTTTGAAGAGCTCTAG c.1788
T L Q S A K S R V A F F E E L X p.595
. . . . . . g.96307
caggtgacccagccaccccaggacctgccacttctcctgctaccgggaccgcgggatgga c.*60
. . . . . . g.96367
ccagatatcaagagagccatccatagggagctggctgggggtttccgtgggagctccaga c.*120
. . . . . . g.96427
actttccccagctgagtgaagagcccagcccctcttatgtgcaattgccttgaactacga c.*180
. . . . . . g.96487
ccctgtagagatttctctcatggcgttctagttctctgacctgagtctttgttttaagaa c.*240
. . . . . . g.96547
gtatttgtcttcctttgtctaatgtgggattcctgactcccttcgtccaaggcaccggtg c.*300
. . . . . . g.96607
tgtgtgtgtcttgcactccagagctgacctccaccgcccagcctgggaagtcattgtagg c.*360
. . . . . . g.96667
gagtgagacactgaagccctgagaagccagtgccatcatccccaccccgcccagggttcc c.*420
. . . . . . g.96727
ggaacattcattcccccaccggtgaggacctggcatgcagcgaagcagcccagcccggcg c.*480
. . . . . . g.96787
gatcccaggccagcacgcctgccggcttctcatcgtcagggagcccgcccagagctcgtg c.*540
. . . . . . g.96847
acgagcaagtgctgggtccccgccaggcaccccgaggcggcgctctggctggcagctggt c.*600
. . . . . . g.96907
ggggaataggcagggcagctgtggctggggagagactttaggcagaagctgtgatgcagg c.*660
. . . . . . g.96967
ctgactgccagccgaggggctgggtagtgccgtgcgggagctgatggtacagggcactcg c.*720
. . . . . . g.97027
ctgtccccctccggccaccctagaccagggtccgagaggcaggcaggagccactcatgtc c.*780
. . . . . . g.97087
ttccccattgcccgacgcccatagacgctccttcctgtgtggggctggggtactccctgg c.*840
. . . . . . g.97147
tcgtactgcagtcagcacccgtaacccggctatgaccagggatctgtaagccctgtggct c.*900
. . . . . . g.97207
ccacaggtgctgcttctcactggcccagactctgagctccaccggcccagtctgcacggc c.*960
. . . . . . g.97267
ccatctgcttcaccttccctcccagccacgtgccagtggccacagcccacttcccaaccc c.*1020
. . . . . . g.97327
actgttgtacccaggcctcactttgctgttgcccttgtccctcttcgggccctgaatttt c.*1080
. . . . . . g.97387
ctgttccctgggggccagccagggccctttgtgcccctcccagcacaggcctgatgcagg c.*1140
. . . . . . g.97447
tgtccactcacaggtggcgctcacctaggctgtcacaggacccacctccatgccaggcaa c.*1200
. . . . . . g.97507
cagagggccacagaaccacccccacggctcactccttggtctggggccaccttcttgccc c.*1260
. . . . . . g.97567
tttctttttttttttttttttttttttccgagatggagtctctctctgtcacccaggtgg c.*1320
. . . . . . g.97627
gagtgtggtggcacaatctcggctcactgcaacctccacctcctgagttcaagcaattct c.*1380
. . . . . . g.97687
cctgcctcagcctcccaagtagctgggactacaggcatgcaccaccacacttggccaatg c.*1440
. . . . . . g.97747
ttctgtatttttaatagggacggggttttgccatgttagctaggctggtctcaaactcac c.*1500
. . . . . . g.97807
acctgggattacaggcatgagccactgcacccagccccttcttgccctttcttttctcca c.*1560
. . . . . . g.97867
tggctgatgctgctgtggccagccagggcccttgagatccttccagtttggctgttatgc c.*1620
. . . . . . g.97927
aaagcaggtgatttgtcttaatcagataaaagatagaggctatgggggcctcaagatttt c.*1680
. . . . . . g.97987
tggagagcagaggtggtctctggcaattccatctggttttgagaaacttagcagctcaca c.*1740
. . . . . . g.98047
gagcacagagatcctgccttcttcctactatcaggctgacctaatggggttgggctgctc c.*1800
. . . . . . g.98107
ggcaactgcttgggtcaccttgccccaaggaaaccagccctgggtgccacccagccactt c.*1860
. . . . . . g.98167
agggtctacagggtgggactccagacctagagcgtaagtatggatgttgtggccctgtgt c.*1920
. . . . . . g.98227
cttcctagtgtgacccagccaggagcggaagcttcaggcgtttgtaaagtgaggtctggc c.*1980
. . . . . . g.98287
tctgcctcctccgttttttttttttttctgtttctgtttctgttttttttttgagatgga c.*2040
. . . . . . g.98347
gtctcgctctgtcgcccaggctggagtgcagtgtcacgatctcagctcactgcaacctcc c.*2100
. . . . . . g.98407
gcctcccaggtacaagagattctcctgcctcagcctcccgagtagctgggactacaggcg c.*2160
. . . . . . g.98467
tgtgccaccatgcctggctaatttttgtatttttagtagagatggggtttcgccatgtta c.*2220
. . . . . . g.98527
gccagactggtctcgaactcctgacctcaggtgatcctcccaccccggcttcccaaagtt c.*2280
. . . . . . g.98587
ctgggattataggcgtgagccaccatgcccggtctcttctcagtcttgaagcccatccct c.*2340
. . . . . . g.98647
ggatttccaccaggagttactttcctcctgacctgtaaatttgttctttaacaatggctg c.*2400
. . . . . . g.98707
caggtgggagcatatggtggtttataaaaacgctgtcgggctttgtttccttctttagct c.*2460
. . . . . . g.98767
gccgtgtctacttctgaagtctgggaagtgccaagccacgcggcctcaagggagctggct c.*2520
. . . . . . g.98827
ggtgtttgagctgtggcagaagcacctggggctccagggagcaggctgggaactgcagga c.*2580
. . . . . . g.98887
ccttgctcagccaggagcacttccccctccttgaggcaggaatactgaggtgcctcccca c.*2640
. . . . . . g.98947
cagatggagaaggtggagaggaggatgggcctcaggagcatctcaagccccagtagcagg c.*2700
. . . . . . g.99007
agaaagaaagaaagagatgcctggttttcacagactggttcctgtggctgggatgactgc c.*2760
. . . . . . g.99067
atccttttttttttttttttgagacggagtttttgcctttgtcgcccaggctggagtgca c.*2820
. . . . . . g.99127
atggcgtgatctcggctcaccgcaacctccgcctcccggattcaagcaattctcctgcct c.*2880
. . . . . . g.99187
cagcctcccgagtagctgggattacaggcacgcacctccacgtccggctaattttgtatt c.*2940
. . . . . . g.99247
tttagtggagacggggtttctccatgtcggtcaggctggtctcgaactcccgacctcagg c.*3000
. . . . . . g.99307
tgatctgcccacctcggcctcccaaagtgctgggattacaggcatgagccaccgcgcttg c.*3060
. . . . . . g.99367
gccagactgcgtcctttttaagcgaacattttagggcctgggagtttgtcaagtaaggaa c.*3120
. . . . . . g.99427
gtctcaagcccaaagagcagcgtcctgaccatggtggtttcattacgagcccttctgctg c.*3180
. . . . . . g.99487
gctctcaggcagaagccccacagcaccgggaccattcatgaggtcactgcccagctcatg c.*3240
. . . . . . g.99547
atgtccgtgaggctgtccttttggccagtagccgtgtgcagctgtgtggcacagatggct c.*3300
. . . . . . g.99607
tcgttcatcctgatcaaggccccacctcagccacagcagtccccccaacctgtgttgtcc c.*3360
. . . . . . g.99667
accctattattcatgtacctgccaggccctgctagatagcaccccgtggcattacataac c.*3420
. . . . . . g.99727
acttcatgagtggctgtgtcttgtaattttggggacaggtttctctctttccctctcttt c.*3480
. . . . . . g.99787
tttttgtcaaaagcccagagactgacaaccagctgcagtgtctaagtgttcctcactgac c.*3540
. . . . . . g.99847
agggtggggcctcaccacccctggagggagcagcgttggcagggagacagcctggcccag c.*3600
. . . . . . g.99907
tgaccctgggcccaagccagcccctccagggctttcagggaagcgccatccattttcaaa c.*3660
. . . . . . g.99967
gatgtcaaacgtcacttcttcctgtagggcccgagtcctgcctcctatcagggccagatc c.*3720
. . . . . . g.100027
atagaaggctattttctattctggggaacgattataacttaaatgattgttttaataaaa c.*3780
. g.100045
attctaagctggaaaata c.*3798
(downstream sequence)
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