(used for variant description)
(last modified October 14, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_014927.3 in the CNKSR2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_016266.1, covering CNKSR2 transcript NM_014927.3.
(upstream sequence)
. . . . . . g.5060
gtcatttccgccgggcagctagtcgtgctcggggcttcactcccgcgcgtgaggcgagcg c.-421
. . . . . . g.5120
ggcaagttggctgagggcgtgcggcagaggctgcttccctcggcgacgcgacccctcagc c.-361
. . . . . . g.5180
aactcaagctatgaactgaagctccctagggacggagaccggagcggagcggcggaggca c.-301
. . . . . . g.5240
gcagcagcagcagcagcagcagcagcagcagcagccgccgccgccgccgccttagcggga c.-241
. . . . . . g.5300
actgagcagacccggcgcggagccacgactcctgcacgtttacctccctgtcgccgttcc c.-181
. . . . . . g.5360
tgccggcggttggctaaaagacgttacagccgcgagacccgacacacaaaagccgctttc c.-121
. . . . . . g.5420
tccgcgccgcccgcccagggaggctgcggccagcaagggaccccacctgagagcagctcg c.-61
. . . . . . g.5480
ggctgctgagttcgttttgtgtctgagctctgcgctctgcacggaaccgaccccgtaccc c.-1
. . . . . . g.5540
ATGGCTCTGATAATGGAACCGGTGAGCAAATGGTCTCCGAGTCAAGTAGTGGACTGGATG c.60
M A L I M E P V S K W S P S Q V V D W M p.20
| 02 . . . . . . g.57135
AAAG | GTCTTGATGACTGTTTGCAGCAGTATATTAAGAACTTTGAGAGGGAGAAGATCAGT c.120
K G | L D D C L Q Q Y I K N F E R E K I S p.40
. . . . . . g.57195
GGGGACCAGCTGCTGCGCATTACACATCAGGAGCTAGAAGATCTGGGGGTCAGCCGCATT c.180
G D Q L L R I T H Q E L E D L G V S R I p.60
. . . . | 03 . g.63206
GGCCATCAGGAACTGATCTTGGAAGCAGTTGACCTTCTGTGTGCATTG | AATTATGGCTTG c.240
G H Q E L I L E A V D L L C A L | N Y G L p.80
. . . . . . g.63266
GAAACAGAAAATCTAAAAACCCTTTCTCACAAGTTGAATGCATCTGCCAAAAATCTGCAG c.300
E T E N L K T L S H K L N A S A K N L Q p.100
. . . . . . g.63326
AATTTTATAACAGGAAGGAGAAGGAGTGGCCATTATGATGGGAGGACCAGCCGAAAATTG c.360
N F I T G R R R S G H Y D G R T S R K L p.120
. . . . . . g.63386
CCAAACGACTTTCTGACCTCAGTTGTGGATCTGATTGGAGCAGCCAAGAGTCTGCTTGCC c.420
P N D F L T S V V D L I G A A K S L L A p.140
. | 04 . . . . . g.71325
TGGTTGGACAG | GTCACCATTTGCTGCTGTGACAGACTATTCAGTTACAAGAAATAATGTC c.480
W L D R | S P F A A V T D Y S V T R N N V p.160
. . . | 05 . . g.101369
ATACAACTCTGCCTGGAGTTAACAACAATTGTGCAACAG | GATTGTACTGTATATGAAACA c.540
I Q L C L E L T T I V Q Q | D C T V Y E T p.180
. . | 06 . . . . g.121080
GAGAATAAAATTCTTCACGTG | TGTAAAACTCTTTCTGGAGTCTGTGACCACATCATATCC c.600
E N K I L H V | C K T L S G V C D H I I S p.200
. . . . . . g.121140
CTGTCGTCAGATCCTCTGGTTTCACAGTCTGCTCACCTGGAAGTGATTCAACTGGCAAAC c.660
L S S D P L V S Q S A H L E V I Q L A N p.220
. . | 07 . . . . g.128408
ATTAAACCAAGCGAAGGGCTG | GGTATGTATATTAAATCTACATATGATGGCCTCCATGTA c.720
I K P S E G L | G M Y I K S T Y D G L H V p.240
. . | 08 . . . . g.132141
ATTACTGGAACCACAGAAAAT | TCACCTGCAGATCGGTGCAAGAAAATCCATGCTGGCGAT c.780
I T G T T E N | S P A D R C K K I H A G D p.260
. . . | 09 . . . g.147097
GAAGTGATTCAAGTTAATCATCAGACTGTG | GTGGGGTGGCAGTTGAAAAATTTGGTGAAT c.840
E V I Q V N H Q T V | V G W Q L K N L V N p.280
. . . . . . g.147157
GCACTACGAGAGGACCCGAGTGGTGTTATCTTAACTTTGAAAAAGCGACCTCAGAGCATG c.900
A L R E D P S G V I L T L K K R P Q S M p.300
. . . . . | 10. g.157452
CTTACCTCAGCACCAGCTTTACTGAAAAATATGAGATGGAAGCCCCTTGCTCTGCAG | CCT c.960
L T S A P A L L K N M R W K P L A L Q | P p.320
. . . . . . g.157512
CTTATACCTAGAAGTCCCACAAGCAGCGTTGCCACGCCTTCCAGCACCATCAGTACACCC c.1020
L I P R S P T S S V A T P S S T I S T P p.340
. . . . . . g.157572
ACCAAAAGAGACAGTTCTGCCCTCCAGGATCTCTACATTCCCCCTCCTCCTGCAGAACCA c.1080
T K R D S S A L Q D L Y I P P P P A E P p.360
. | 11 . . . . . g.162487
TATATTCCCAG | GGATGAAAAAGGAAACCTTCCTTGTGAAGACCTCAGAGGACATATGGTG c.1140
Y I P R | D E K G N L P C E D L R G H M V p.380
. . . . . . g.162547
GGCAAGCCAGTGCATAAGGGATCTGAATCACCAAATTCATTTCTGGATCAGGAATATCGA c.1200
G K P V H K G S E S P N S F L D Q E Y R p.400
. . . . . . g.162607
AAGAGATTTAATATTGTCGAAGAAGATACTGTCTTATATTGCTATGAATATGAAAAAGGA c.1260
K R F N I V E E D T V L Y C Y E Y E K G p.420
. . . . | 12 . . g.192070
AGATCAAGTAGTCAAGGAAGACGAGAAAGCACCCCAACTTATG | GCAAGCTACGACCTATA c.1320
R S S S Q G R R E S T P T Y G | K L R P I p.440
. . . . . . g.192130
TCTATGCCAGTGGAATATAATTGGGTGGGGGACTATGAAGATCCAAATAAGATGAAGAGA c.1380
S M P V E Y N W V G D Y E D P N K M K R p.460
. | 13 . . . . . g.193867
GATAGTAGAAGAG | AAAACTCTCTACTTCGGTATATGAGCAATGAAAAGATTGCTCAAGAA c.1440
D S R R E | N S L L R Y M S N E K I A Q E p.480
. . . . . . g.193927
GAATACATGTTTCAGAGAAACAGCAAAAAGGACACAGGGAAGAAGTCAAAAAAGAAGGGT c.1500
E Y M F Q R N S K K D T G K K S K K K G p.500
. . . . . . g.193987
GATAAGAGTAATAGCCCAACTCACTATTCATTGCTACCTAGTTTACAAATGGATGCACTG c.1560
D K S N S P T H Y S L L P S L Q M D A L p.520
. . . . | 14 . g.221166
AGACAAGACATCATGGGCACTCCTGTGCCAGAGACCACACTATACCAT | ACATTTCAGCAG c.1620
R Q D I M G T P V P E T T L Y H | T F Q Q p.540
. . . | 15. . . g.221627
TCCTCACTGCAGCACAAATCAAAGAAGAAAAACAAAG | GTCCTATAGCAGGCAAGAGCAAA c.1680
S S L Q H K S K K K N K G | P I A G K S K p.560
. . . . . . g.221687
AGACGAATTTCTTGCAAAGATCTTGGCCGTGGTGACTGTGAGGGCTGGCTTTGGAAAAAG c.1740
R R I S C K D L G R G D C E G W L W K K p.580
. . . . . . g.221747
AAAGATGCGAAGAGTTACTTTTCACAGAAATGGAAAAAATATTGGTTTGTCCTAAAGGAT c.1800
K D A K S Y F S Q K W K K Y W F V L K D p.600
. . . | 16 . . . g.225586
GCATCCCTTTATTGGTATATTAATGAGGAG | GATGAAAAAGCAGAAGGATTCATTAGCCTG c.1860
A S L Y W Y I N E E | D E K A E G F I S L p.620
. . . . | 17 . . g.225922
CCTGAATTTAAAATTGATAGAGCCAGTGAATGCCGCAAAAAATA | TGCATTCAAAGCCTGT c.1920
P E F K I D R A S E C R K K Y | A F K A C p.640
. . . . . | 18 . g.231868
CATCCTAAAATCAAAAGCTTTTATTTTGCTGCTGAACATCTTGATGATATGAACAG | GTGG c.1980
H P K I K S F Y F A A E H L D D M N R | W p.660
. . . . . . g.231928
CTTAACAGAATTAATATGCTGACTGCAGGATATGCAGAAAGAGAGAGGATTAAGCAGGAA c.2040
L N R I N M L T A G Y A E R E R I K Q E p.680
| 19 . . . . . . g.237417
CAAG | ATTACTGGAGTGAGAGTGACAAGGAAGAAGCAGATACTCCATCAACACCAAAACAA c.2100
Q D | Y W S E S D K E E A D T P S T P K Q p.700
. . . . | 20 . . g.239668
GATAGCCCTCCACCCCCATATGATACATACCCACGACCTCCCTCG | ATGAGTTGCGCCAGT c.2160
D S P P P P Y D T Y P R P P S | M S C A S p.720
. . . . . . g.239728
CCTTATGTGGAAGCAAAACATAGCCGACTTTCCTCCACGGAGACTTCTCAGTCTCAGTCT c.2220
P Y V E A K H S R L S S T E T S Q S Q S p.740
. . . . . . g.239788
TCTCATGAGGAGTTTCGCCAGGAAGTAACTGGGAGCAGTGCAGTGTCTCCCATTCGCAAG c.2280
S H E E F R Q E V T G S S A V S P I R K p.760
. . . . . . g.239848
ACAGCCAGTCAGCGCCGCTCCTGGCAGGATTTAATTGAGACGCCACTGACAAGTTCAGGC c.2340
T A S Q R R S W Q D L I E T P L T S S G p.780
. . . . . . g.239908
TTACACTATCTTCAGACTCTGCCCCTGGAGGATTCTGTCTTCTCTGACTCCGCGGCCATC c.2400
L H Y L Q T L P L E D S V F S D S A A I p.800
. . . . . . g.239968
TCCCCAGAGCACAGGCGGCAGTCTACCCTGCCAACTCAGAAATGCCACCTGCAGGATCAC c.2460
S P E H R R Q S T L P T Q K C H L Q D H p.820
. . . . . . g.240028
TATGGGCCATACCCCTTAGCTGAGAGTGAGAGGATGCAAGTGCTAAATGGAAATGGGGGC c.2520
Y G P Y P L A E S E R M Q V L N G N G G p.840
. . . . . . g.240088
AAGCCTCGAAGTTTTACTCTGCCTCGAGATAGCGGGTTCAACCATTGCTGTCTGAATGCT c.2580
K P R S F T L P R D S G F N H C C L N A p.860
. . . . . . g.240148
CCAGTTAGTGCCTGTGACCCACAGGATGACGTGCAACCCCCAGAGGTGGAGGAAGAGGAG c.2640
P V S A C D P Q D D V Q P P E V E E E E p.880
. . . . . | 21 . g.279421
GAGGAGGAGGAGGAGGAAGGGGAGGCAGCAGGGGAAAACATAGGAGAAAAAA | GTGAAAGC c.2700
E E E E E E G E A A G E N I G E K S | E S p.900
. . . . . . g.279481
AGAGAAGAAAAGTTAGGAGACTCATTGCAAGATTTATACAGGGCACTGGAGCAGGCCAGT c.2760
R E E K L G D S L Q D L Y R A L E Q A S p.920
. . . . . . g.279541
CTGTCACCACTAGGAGAACATCGTATTTCAACCAAGATGGAATACAAGCTATCATTTATA c.2820
L S P L G E H R I S T K M E Y K L S F I p.940
. . . . . . g.279601
AAAAGATGTAATGATCCTGTAATGAATGAAAAACTACACCGGCTGAGAATTCTCAAAAGC c.2880
K R C N D P V M N E K L H R L R I L K S p.960
| 22 . . . . . g.282939
ACTTTAAAG | GCCAGAGAAGGGGAAGTAGCCATTATCGATAAAGTCCTAGACAATCCAGAC c.2940
T L K | A R E G E V A I I D K V L D N P D p.980
. . . . . . g.282999
TTGACATCTAAAGAATTCCAACAATGGAAGCAGATGTACCTCGACCTTTTCTTGGATATC c.3000
L T S K E F Q Q W K Q M Y L D L F L D I p.1000
. . . . . . g.283059
TGTCAAAATACCACCTCAAATGACCCACTGAGTATTTCTTCTGAAGTAGATGTAATCACT c.3060
C Q N T T S N D P L S I S S E V D V I T p.1020
. . . . g.283104
TCCTCTCTAGCACACACTCATTCATACATTGAAACGCATGTCTAA c.3105
S S L A H T H S Y I E T H V X p.1034
. . . . . . g.283164
atgtattctgccttcagaccatctagtacctgctggtactctgaacaagtatataaggta c.*60
. . . . . . g.283224
gtttttatatcaatgtgtggaacacttgacaagctatactttaatgttaccaaactatat c.*120
. . . . . . g.283284
gaaacaaaccatatatggtcacaataccactatctttaatgagcatttgtatattttata c.*180
. . . . . . g.283344
tgcaacagtgctcagcttatgtttaccatgtgcaaaatcaactgtctttaatgacttaaa c.*240
. . . . . . g.283404
attaacttttgcaaacaattctaaatacaggtggtcttcaagtagtaaaaccacaaaagg c.*300
. . . . . . g.283464
cagttttctatctatggtcatcttttctccctttaagttaattttatataaacaagactt c.*360
. . . . . . g.283524
caaaagtaaatcacattttttcaggtgcagacatccttgtgggtgggaaagaatttaaac c.*420
. . . . . . g.283584
cttttttatatttattaaaatgttctaagaattttcttaaacattgcacaaagtttaatg c.*480
. . . . . . g.283644
ctgtagttttatttttgtgaaatgtagatgcgcatacaagagctaagcaaaatagaagag c.*540
. . . . . . g.283704
catcgacataagaaaagttcaggtatctaatattcgtcttaatagtctattaacttgtga c.*600
. . . . . . g.283764
aagctaagttaatggaaatattattccaaatctatgagaacacttggtgtatcagggcaa c.*660
. . . . . . g.283824
agctttgtaagatgtttttgtaactaagaccaaaattgaagatagagctgctttattttc c.*720
. . . . . . g.283884
ttggtttaaatcttcctttatttttgtagtgatgagatgctgattgtgtacagaagaatt c.*780
. . . . . . g.283944
tgagaggggatttttaaaaactgacttaacacacccagaaaggcagctaacagctatata c.*840
. . . . . . g.284004
tatatataaatttcagcccaaactcatgtttttaaactccaactcttaaaagacaacaag c.*900
. . . . . . g.284064
gtataaactgaaatgaatcaactttccacttagtttccaattttcccctagtccactaat c.*960
. . . . . . g.284124
taaacttaggtaattatacttcaggtagggaagtacaatatgtttagtttcaggctgatg c.*1020
. . . . . . g.284184
tgtgttataaaaaacaacactgaaaaataaaaatgtacttcccttctaaggagcaagcag c.*1080
. . . . . . g.284244
gtgatggtcattcaaagagatgtcacattgaattatgagagaaacaatttagaggttttt c.*1140
. . . . . . g.284304
ttcctggcttcatgaattgttctatagagtggatgaagtctaaggaaaagtcctcttcat c.*1200
. . . . . . g.284364
atatttccatttataagcgtcttgtttttgaaagtgatcacagcatgaaaatgactgtgc c.*1260
. . . . . . g.284424
tgctttttagtgtctggctgcataatgtacaagtcacaatttgctgtttttttcaggagg c.*1320
. . . . . . g.284484
agaaagggaacctcctttactattctatatcctaaaatctacttctaatcagctttatac c.*1380
. . . . . . g.284544
tgttgcctgtacagctcagtgaatgtactttcatctttaagagttcagatatatgccagt c.*1440
. . . . . . g.284604
gaatatttttgctgtagaggagaaagtaaaaactccacagcggggatctttttctttgct c.*1500
. . . . . . g.284664
tttgaaaccaccattgaatcactatcgttttgcagactttgcacaactgtacaggagagt c.*1560
. . . . . . g.284724
ggcctttctacagcacattttcagtaatcctatatttagtcaaaatggatgagaaatcat c.*1620
. . . . . . g.284784
gtattaatgtttgtatggaattttgggtccagtgtaatatttttatcatttaaaaagaac c.*1680
. . . . . . g.284844
tctatttgtaaaaacatttatttactgcatggatattgacgcacattaaatttgtgggat c.*1740
. . . . . . g.284904
tttgtatatgtaaaaaaaaaaaaaaaaaaaaaacaaaaaacctcttgtcctaaaatgaag c.*1800
. . . . . . g.284964
tgtgcttgttaacaggtgtttagacttattgatgtttactagaccaaatgtgtatgttca c.*1860
. . . . . . g.285024
cttaaaaatatatgtacctgatggatgtgtcatgtttacagtggccaggttgtggcctgt c.*1920
. . . . . . g.285084
aaacagcaagcagttgacgggaagactagctctgttgctactaagcagcttttacttttg c.*1980
. . . . . . g.285144
taaagtcagctctgttgttttaaatggtaaaaattaaactaatgaatttgacaagactcg c.*2040
. . . . . . g.285204
tggctagcctagcatgaaagagaccttttaacactatataatatctgtacattttattgc c.*2100
. . . . . . g.285264
attcgtttcaaatctaggagagaggcagcactgtaaactgaagtcaaataaattcagctc c.*2160
. g.285278
ttaatgaatcctta c.*2174
(downstream sequence)
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