(used for variant description)
(last modified October 19, 2013)
This file was created to facilitate the description of sequence variants on transcript NM_003388.4 in the CLIP2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_011830.1, covering CLIP2 transcript NM_003388.4.
(upstream sequence)
. . g.5027
cggctcggccgcggggcgcgcaggcgg c.-301
. . . . . . g.5087
ctgctgggcggcctcggtgcgcgcctcccgccttcccagagacgtggcgcgaggcccggg c.-241
. . . . . . g.5147
ccctgagcacctatcgcggggatccccggcgccaggagggggtgcagccggtgggcagcg c.-181
. . . . . . g.5207
ccgcgcagggaggggccgcagcatcctcgccccccagcgcgcccgggcccgagaggagga c.-121
. . . . . . | 02 g.33012
ggccggggctctccgggcctcccgccgcttagcctgatgctggaaggacgaag | gtgagtg c.-61
. . . . . . g.33072
aagatggcagagaggacgtgaccagcactcacccttgtccacctgcccagtggcaccgcc c.-1
. . . . . . g.33132
ATGCAGAAGCCCAGCGGCCTGAAGCCCCCCGGCCGTGGGGGGAAGCACTCCAGCCCCATG c.60
M Q K P S G L K P P G R G G K H S S P M p.20
. . . . . . g.33192
GGCCGGACATCTACTGGGTCAGCTTCATCCTCGGCGGCGGTGGCCGCTAGCTCCAAGGAA c.120
G R T S T G S A S S S A A V A A S S K E p.40
| 03 . . . . . . g.54032
G | GCTCCCCACTGCACAAACAGTCATCTGGACCCTCCTCCTCCCCGGCCGCAGCTGCTGCC c.180
G | S P L H K Q S S G P S S S P A A A A A p.60
. . . . . . g.54092
CCCGAGAAGCCGGGCCCCAAGGCGGCGGAAGTGGGGGATGACTTCCTGGGGGACTTTGTG c.240
P E K P G P K A A E V G D D F L G D F V p.80
. . . . . . g.54152
GTGGGCGAGCGGGTGTGGGTGAACGGCGTGAAGCCAGGCGTGGTGCAGTATCTGGGAGAG c.300
V G E R V W V N G V K P G V V Q Y L G E p.100
. . . . . . g.54212
ACGCAGTTCGCACCGGGCCAGTGGGCTGGCGTGGTGCTGGACGACCCGGTGGGCAAGAAT c.360
T Q F A P G Q W A G V V L D D P V G K N p.120
. . . . . . g.54272
GATGGCGCGGTGGGCGGCGTGCGCTACTTCGAGTGCCCGGCCCTCCAGGGTATCTTCACG c.420
D G A V G G V R Y F E C P A L Q G I F T p.140
. . . . . . g.54332
CGGCCCTCCAAGCTGACCCGGCAGCCCACGGCCGAGGGCTCGGGGAGTGATGCCCACTCC c.480
R P S K L T R Q P T A E G S G S D A H S p.160
. . . . . . g.54392
GTGGAGTCGCTGACTGCCCAGAACCTGTCATTGCATTCGGGCACGGCCACGCCCCCGCTG c.540
V E S L T A Q N L S L H S G T A T P P L p.180
. . . . . . g.54452
ACCAGCCGCGTCATCCCCCTGCGGGAGAGCGTCCTCAACAGCTCCGTGAAGACTGGCAAC c.600
T S R V I P L R E S V L N S S V K T G N p.200
. . . . . . g.54512
GAGTCGGGATCCAACCTCTCAGACAGCGGCTCTGTGAAGCGGGGCGAAAAGGACCTGCGC c.660
E S G S N L S D S G S V K R G E K D L R p.220
. | 04 . . . . g.69447
CTGGGGGACCGCGTGCTG | GTTGGCGGGACGAAGACTGGCGTGGTGCGGTACGTGGGGGAG c.720
L G D R V L | V G G T K T G V V R Y V G E p.240
. . . . . . g.69507
ACAGACTTTGCCAAGGGCGAGTGGTGTGGCGTGGAGCTGGACGAGCCCCTTGGGAAGAAT c.780
T D F A K G E W C G V E L D E P L G K N p.260
. . | 05 . . . . g.71972
GATGGGGCGGTGGCGGGCACCAG | GTACTTCCAGTGCCCACCCAAGTTTGGTCTCTTCGCG c.840
D G A V A G T R | Y F Q C P P K F G L F A p.280
. . . . . . g.72032
CCCATCCACAAAGTGATCCGTATCGGCTTCCCATCTACCAGCCCAGCCAAGGCCAAGAAG c.900
P I H K V I R I G F P S T S P A K A K K p.300
. . . . . . g.72092
ACCAAGCGTATGGCCATGGGTGTGTCAGCACTGACCCACAGTCCCAGCAGTTCCTCCATC c.960
T K R M A M G V S A L T H S P S S S S I p.320
. . . . . | 06. g.72808
AGCTCCGTCAGCTCTGTGGCCTCCTCCGTGGGGGGTCGGCCCAGCCGCAGTGGCCTG | CTC c.1020
S S V S S V A S S V G G R P S R S G L | L p.340
. . . . . . g.72868
ACGGAGACCTCTTCACGCTACGCCCGCAAGATCTCGGGCACCACGGCCTTGCAGGAGGCA c.1080
T E T S S R Y A R K I S G T T A L Q E A p.360
. . . . . . g.72928
CTGAAGGAGAAGCAGCAGCACATTGAGCAGCTGCTGGCTGAACGAGACCTGGAACGGGCT c.1140
L K E K Q Q H I E Q L L A E R D L E R A p.380
. . . . . . g.72988
GAGGTGGCCAAGGCCACAAGCCACATCTGCGAGGTGGAGAAGGAGATTGCCCTGCTCAAG c.1200
E V A K A T S H I C E V E K E I A L L K p.400
. | 07 . . . . . g.75745
GCACAGCATGAGCAG | TATGTTGCAGAAGCCGAGGAGAAGCTGCAGCGAGCCCGGCTGCTC c.1260
A Q H E Q | Y V A E A E E K L Q R A R L L p.420
. . . . . | 08 g.79781
GTGGAGAGCGTGCGGAAAGAGAAGGTGGACCTGTCCAACCAGCTGGAGGAGGAGAGGAG | G c.1320
V E S V R K E K V D L S N Q L E E E R R | p.440
. . . . . . g.79841
AAGGTGGAGGATCTGCAGTTCCGCGTGGAGGAGGAGTCCATCACCAAGGGAGACCTGGAG c.1380
K V E D L Q F R V E E E S I T K G D L E p.460
| 09 . . . . . . g.88517
| ACCCAGACGCAGCTGGAGCACGCGCGCATTGGGGAGCTGGAACAGAGCCTGCTACTGGAG c.1440
| T Q T Q L E H A R I G E L E Q S L L L E p.480
. . . . | 10 . . g.91427
AAGGCGCAGGCCGAGCGGCTGCTCCGAGAATTAGCGGACAACAGG | CTGACCACAGTGGCC c.1500
K A Q A E R L L R E L A D N R | L T T V A p.500
. . . . . . g.91487
GAGAAGTCGCGCGTGCTGCAGCTGGAGGAGGAGCTCACCCTGCGCCGAGGTGAAATCGAG c.1560
E K S R V L Q L E E E L T L R R G E I E p.520
. . . . . . g.91547
GAGCTCCAGCAGTGCCTGTTGCACTCGGGTCCCCCACCTCCGGACCACCCAGACGCCGCC c.1620
E L Q Q C L L H S G P P P P D H P D A A p.540
. . . . . . g.91607
GAGATCCTGCGGCTACGGGAGCGGCTGCTCTCGGCCAGCAAGGAACACCAGAGGGAGAGT c.1680
E I L R L R E R L L S A S K E H Q R E S p.560
. . . . . . g.91667
GGGGTGCTGCGGGATAAATACGAGAAGGCCCTGAAGGCCTACCAGGCGGAGGTGGACAAG c.1740
G V L R D K Y E K A L K A Y Q A E V D K p.580
. . . . . . g.91727
CTCCGCGCGGCCAACGAGAAGTACGCACAGGAGGTGGCGGGCCTGAAGGACAAGGTTCAG c.1800
L R A A N E K Y A Q E V A G L K D K V Q p.600
. . . . . . g.91787
CAGGCCACCAGCGAGAACATGGGGCTAATGGACAACTGGAAATCCAAGCTGGACTCGCTG c.1860
Q A T S E N M G L M D N W K S K L D S L p.620
. . . . . . g.91847
GCCTCGGACCACCAGAAGTCCCTGGAGGACCTCAAAGCCACCCTGAACTCGGGCCCAGGC c.1920
A S D H Q K S L E D L K A T L N S G P G p.640
. . . . . . g.91907
GCCCAGCAGAAGGAGATCGGCGAGCTGAAGGCAGTGATGGAGGGCATCAAGATGGAGCAC c.1980
A Q Q K E I G E L K A V M E G I K M E H p.660
. . . . . . g.91967
CAGCTGGAGCTGGGTAACTTGCAGGCCAAGCATGACCTGGAGACCGCCATGCACGTGAAG c.2040
Q L E L G N L Q A K H D L E T A M H V K p.680
. . . . . . g.92027
GAGAAGGAGGCCCTGCGAGAGAAGCTGCAGGAGGCCCAGGAGGAGCTGGCTGGGCTGCAG c.2100
E K E A L R E K L Q E A Q E E L A G L Q p.700
. . . . . . g.92087
CGGCACTGGCGGGCCCAGCTGGAGGTGCAAGCCAGCCAGCACCGGCTGGAGCTGCAGGAG c.2160
R H W R A Q L E V Q A S Q H R L E L Q E p.720
. . . . . . g.92147
GCCCAGGACCAGCGCCGGGATGCCGAGCTGCGTGTGCACGAGCTGGAAAAACTGGACGTG c.2220
A Q D Q R R D A E L R V H E L E K L D V p.740
. . . . . . g.92207
GAGTACCGGGGCCAGGCGCAGGCTATCGAGTTCCTCAAGGAGCAGATCTCGCTGGCCGAG c.2280
E Y R G Q A Q A I E F L K E Q I S L A E p.760
. . . . . . g.92267
AAGAAGATGTTGGACTACGAGCGGCTGCAGCGGGCAGAAGCCCAGGGCAAACAGGAGGTC c.2340
K K M L D Y E R L Q R A E A Q G K Q E V p.780
. . . . . . g.92327
GAGAGTTTGCGGGAGAAGCTCCTGGTGGCTGAGAACAGACTCCAGGCGGTCGAGGCCCTG c.2400
E S L R E K L L V A E N R L Q A V E A L p.800
. . | 11 . . . . g.96370
TGCTCCTCCCAGCACACCCAC | ATGATTGAGTCGAATGACATTTCAGAGGAGACGATCAGG c.2460
C S S Q H T H | M I E S N D I S E E T I R p.820
. | 12 . . . . g.102087
ACGAAGGAAACTGTGGAGG | GCCTGCAGGACAAGCTGAACAAGAGGGACAAAGAGGTGACA c.2520
T K E T V E G | L Q D K L N K R D K E V T p.840
. . . . | 13 . . g.104645
GCCTTGACCTCCCAGACCGAGATGCTCAGGGCCCAAGTAAGTG | CGCTGGAGAGCAAGTGT c.2580
A L T S Q T E M L R A Q V S A | L E S K C p.860
. . . . . . g.104705
AAGTCAGGCGAGAAGAAGGTGGACGCCCTCCTGAAGGAGAAGCGGCGCCTGGAGGCAGAG c.2640
K S G E K K V D A L L K E K R R L E A E p.880
. . . . . . g.104765
CTGGAGACCGTGTCCCGGAAGACCCATGACGCCTCGGGCCAGCTAGTCCTCATCAGCCAG c.2700
L E T V S R K T H D A S G Q L V L I S Q p.900
. . | 14 . . . . g.112639
GAGCTGCTGCGGAAGGAGCG | GAGCCTGAACGAACTGCGGGTGTTGCTGCTGGAGGCCAAT c.2760
E L L R K E R | S L N E L R V L L L E A N p.920
. . . . . . g.112699
CGTCACTCCCCAGGGCCGGAGAGGGACCTGAGCCGTGAGGTACACAAGGCTGAGTGGCGG c.2820
R H S P G P E R D L S R E V H K A E W R p.940
. . . . . . g.112759
ATCAAGGAGCAGAAACTCAAGGATGACATCCGGGGCCTGCGTGAAAAGCTGACCGGGCTG c.2880
I K E Q K L K D D I R G L R E K L T G L p.960
| 15 . . . . . . g.115955
| GACAAAGAGAAATCCCTGTCGGATCAGAGGCGCTACTCCCTCATCGACCGGTCCTCGGCG c.2940
| D K E K S L S D Q R R Y S L I D R S S A p.980
. . . . . . g.116015
CCCGAGCTTCTGCGGCTGCAGCACCAGCTGATGAGCACGGAGGACGCCCTGCGGGATGCG c.3000
P E L L R L Q H Q L M S T E D A L R D A p.1000
. . . . . . g.116075
CTGGACCAGGCTCAGCAGGTGGAGAAGCTGATGGAGGCCATGAGGAGCTGCCCTGACAAG c.3060
L D Q A Q Q V E K L M E A M R S C P D K p.1020
| 16 . . . . . . g.117084
GCCCAG | ACCATCGGCAATTCCGGTTCTGCAAACGGCATCCACCAGCAGGACAAAGCTCAG c.3120
A Q | T I G N S G S A N G I H Q Q D K A Q p.1040
| 17 . g.119413
AAACAAGAG | GACAAGCACTGA c.3141
K Q E | D K H X p.1046
. . . . . . g.119473
tcctgaggggatactgtggagcagcccagtccacaccagagccccacgcggctgcccggc c.*60
. . . . . . g.119533
agtacctcctccaggcaggagccgggactgtcactttggagacaaaacagtgtttgtaac c.*120
. . . . . . g.119593
aataacgtactcaccgccgcggacaatcccccaccccgatccctcgccagaccaggacgc c.*180
. . . . . . g.119653
ttcctcaagcccagccttctacagagagtgtgaacggtacagccccggcctgacccgggg c.*240
. . . . . . g.119713
accttcagcctggacacccggcagcttctggagtttgtcagtggaggcagaggggatccg c.*300
. . . . . . g.119773
gccaggcccctctgtccagaaggagctgccctgaggaccatcttagcggccctgtcctct c.*360
. . . . . . g.119833
ttttccgcccattctccctcgggtctccccagaggggccggcgggggctggggagggggt c.*420
. . . . . . g.119893
aagtttatccatgcagacaccaagggggagcatccagtctttaagagccaagtgggggcc c.*480
. . . . . . g.119953
ccttttccgaagccacttccaggccaaggcagtcgccagggcttcttgtccccaccttct c.*540
. . . . . . g.120013
gaaccttcttcaaacagtagtacaagctcccctcagccagcctgcctgcccagcgaggcc c.*600
. . . . . . g.120073
cccaggttcaaggtgttggcgggggcggagggcaggggaacgggatccttctcccgctgc c.*660
. . . . . . g.120133
ccaccaacaccaacacacacacacctctaagctgctggccgaagatgtcaccaaggccaa c.*720
. . . . . . g.120193
agacacagtattatgaaggtttggaaacccctctcctcacctcccaccgtgaccttgggc c.*780
. . . . . . g.120253
aaaccctggctcggagcccagggcagaggcagctcagagtggaggctctaggcaggtttg c.*840
. . . . . . g.120313
acaaaggtcagtaatacggtttcccctggggttgaccagatgttccaaaatatctgcatc c.*900
. . . . . . g.120373
cacctggagatgcagctaagtgggtccttatgtacacaccacgttcacacacacacagag c.*960
. . . . . . g.120433
ggaccacgtgtgcacgcatgaccgtgtgggtggcggcgtttgctgtgaaccacgctcagg c.*1020
. . . . . . g.120493
ccacacagagacacatacttggtttctgggactgagacccaggcctggcaggaccgtgcc c.*1080
. . . . . . g.120553
tacagatactgcaaacgttcctacagcctagaggtgcgtatacacacccaagtacacgca c.*1140
. . . . . . g.120613
gccaggcattcaggggtgtgtttgccacatggagcatcccttcctggtcttgccaggcac c.*1200
. . . . . . g.120673
ctgcacagagcgtctccagccccatctcctaacgggggctgggggtaagagaaatctaac c.*1260
. . . . . . g.120733
tgcgctcccccaacccctcgccctgccatcttcccctcaagcctgctaagttatcccagg c.*1320
. . . . . . g.120793
cctgtgcgtggtggaaaaagccagccttggccctgcagcctccacctcgccgctggggga c.*1380
. . . . . . g.120853
ccaacaggttgcttacagctttgcaccccggcatcagcacaggggtccctgccccaccct c.*1440
. . . . . . g.120913
ccggcagctcagggagtgttttcctgtgaggcctcccccatcagtggaccagagggagaa c.*1500
. . . . . . g.120973
gcccgatgccccatcccggctttcccgtaacgcacaggacacgtgtgcaattcataggaa c.*1560
. . . . . . g.121033
cggcccagatcgccctcatgagtgccacctggtacaggtaggtggcgctcacgttcctgc c.*1620
. . . . . . g.121093
ccaaatgcagcccatcggggagtcacagtcagtccccccggcccccctcccagtccctgt c.*1680
. . . . . . g.121153
tggctttcggtagctctcgcatgcagttctattaacagccgtctagaagcgatgctttag c.*1740
. . . . . . g.121213
tggcctaacccagggtcaaatacagctctttctagcaaaatcaggcagctctgccccatc c.*1800
. . . . . . g.121273
ggtaggggcaccgattagtctactaacagccagaggtccatctagcagggtgccgggagg c.*1860
. . . . . . g.121333
agctgagcccccggaggtgggctcctggtgacgggtgtccaagaagcggtttccttggga c.*1920
. . . . . . g.121393
gcttctgcctccgtgggcctctcagcccgccccgtgtggccgcccgggtgtggctcagcc c.*1980
. . . . . . g.121453
atgtcccctccccaggtccttcattcacccctcccctccccacagtggaattgttgaagt c.*2040
. . . . . g.121508
gtggcgagtctgtgctcgggacaataaagcttgtgacaggtccaggaccccggca c.*2095
(downstream sequence)
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