(used for variant description)
(last modified July 6, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_001220.4 in the CAMK2B gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_029407.1, covering CAMK2B transcript NM_001220.4.
(upstream sequence)
. . . g.5030
aggtgtgcggcgcgctcctggcgaggacgg c.-181
. . . . . . g.5090
agcgagcagatctcgcgtgcgctcgccgcccggcgcagcccagcccggcccccgcctggc c.-121
. . . . . . g.5150
gccgcgagccgaggtgtctcccgcgcccgcgcccgtgtcgccgccgtgcccgcgagcggg c.-61
. . . . . . g.5210
agccggagtcgccgccgcccgagcgcagccgagcgcacgccgagcccgtccgccgccgcc c.-1
. . . . . . g.5270
ATGGCCACCACGGTGACCTGCACCCGCTTCACCGACGAGTACCAGCTCTACGAGGATATT c.60
M A T T V T C T R F T D E Y Q L Y E D I p.20
| 02 . . . . . . g.46461
GGCAA | GGGGGCTTTCTCTGTGGTCCGACGCTGTGTCAAGCTCTGCACCGGCCATGAGTAT c.120
G K | G A F S V V R R C V K L C T G H E Y p.40
. . . . | 03 . . g.67587
GCAGCCAAGATCATCAACACCAAGAAGCTGTCAGCCAGAG | ATCACCAGAAGCTGGAGAGA c.180
A A K I I N T K K L S A R D | H Q K L E R p.60
. . . . | 04 . . g.71725
GAGGCTCGGATCTGCCGCCTTCTGAAGCATTCCAACATCG | TGCGTCTCCACGACAGCATC c.240
E A R I C R L L K H S N I V | R L H D S I p.80
. . . | 05 . . . g.76049
TCCGAGGAGGGCTTCCACTACCTGGTCTTCGATCT | GGTCACTGGTGGGGAGCTCTTTGAA c.300
S E E G F H Y L V F D L | V T G G E L F E p.100
. . . . | 06 . . g.83458
GACATTGTGGCGAGAGAGTACTACAGCGAGGCTGATGCCAG | TCACTGTATCCAGCAGATC c.360
D I V A R E Y Y S E A D A S | H C I Q Q I p.120
. . . . . | 07 . g.87110
CTGGAGGCCGTTCTCCATTGTCACCAAATGGGGGTCGTCCACAGAGACCTCAAG | CCGGAG c.420
L E A V L H C H Q M G V V H R D L K | P E p.140
. . . . . . g.87170
AACCTGCTTCTGGCCAGCAAGTGCAAAGGGGCTGCAGTGAAGCTGGCAGACTTCGGCCTA c.480
N L L L A S K C K G A A V K L A D F G L p.160
. . . | 08. . . g.87321
GCTATCGAGGTGCAGGGGGACCAGCAGGCATGGTTTG | GTTTCGCTGGCACACCAGGCTAC c.540
A I E V Q G D Q Q A W F G | F A G T P G Y p.180
. . . . . . g.87381
CTGTCCCCTGAGGTCCTTCGCAAAGAGGCGTATGGCAAGCCTGTGGACATCTGGGCATGT c.600
L S P E V L R K E A Y G K P V D I W A C p.200
| 09 . . . . . . g.88036
G | GGGTGATCCTGTACATCCTGCTCGTGGGCTACCCACCCTTCTGGGACGAGGACCAGCAC c.660
G | V I L Y I L L V G Y P P F W D E D Q H p.220
. . . | 10 . . . g.88315
AAGCTGTACCAGCAGATCAAGGCTGGTGCCTATGAC | TTCCCGTCCCCTGAGTGGGACACC c.720
K L Y Q Q I K A G A Y D | F P S P E W D T p.240
. . . . . . g.88375
GTCACTCCTGAAGCCAAAAACCTCATCAACCAGATGCTGACCATCAACCCTGCCAAGCGC c.780
V T P E A K N L I N Q M L T I N P A K R p.260
. . . | 11 . . g.88869
ATCACAGCCCATGAGGCCCTGAAGCACCCGTGGGTCTGC | CAACGCTCCACGGTAGCATCC c.840
I T A H E A L K H P W V C | Q R S T V A S p.280
. . . . . . g.88929
ATGATGCACAGACAGGAGACTGTGGAGTGTCTGAAAAAGTTCAATGCCAGGAGAAAGCTC c.900
M M H R Q E T V E C L K K F N A R R K L p.300
| 12 . . . . | 13 . . g.90982
AAG | GGAGCCATCCTCACCACCATGCTGGCCACACGGAATTTCTCAG | TGGGCAGACAGACC c.960
K | G A I L T T M L A T R N F S V | G R Q T p.320
. . . . . . g.91042
ACCGCTCCGGCCACAATGTCCACCGCGGCCTCCGGCACCACCATGGGGCTGGTGGAACAA c.1020
T A P A T M S T A A S G T T M G L V E Q p.340
| 14 . . . | 15 . . g.96191
G | CCAAGAGTTTACTCAACAAGAAAGCAGATGGAGTCAAG | CCCCAGACGAATAGCACCAAA c.1080
A | K S L L N K K A D G V K | P Q T N S T K p.360
. . . . . | 16 . g.97774
AACAGTGCAGCCGCCACCAGCCCCAAAGGGACGCTTCCTCCTGCCGCCCTG | GAGCCTCAA c.1140
N S A A A T S P K G T L P P A A L | E P Q p.380
. . . | 17 . . . g.99601
ACCACCGTCATCCATAACCCAGTGGACGGGATTAAG | GAGTCTTCTGACAGTGCCAATACC c.1200
T T V I H N P V D G I K | E S S D S A N T p.400
. . | 18 . . . . g.101165
ACCATAGAGGATGAAGACGCTAAAG | CCCCCAGGGTCCCCGACATCCTGAGCTCAGTGAGG c.1260
T I E D E D A K A | P R V P D I L S S V R p.420
. . . . . . g.101225
AGGGGCTCGGGAGCCCCAGAAGCCGAGGGGCCCCTGCCCTGCCCATCTCCGGCTCCCTTT c.1320
R G S G A P E A E G P L P C P S P A P F p.440
. | 19 . . . . g.101748
AGCCCCCTGCCAGCCCCAT | CCCCCAGGATCTCTGACATCCTGAACTCTGTGAGAAGGGGT c.1380
S P L P A P S | P R I S D I L N S V R R G p.460
. . . . . . g.101808
TCAGGAACCCCAGAAGCCGAGGGCCCCCTCTCAGCGGGGCCCCCGCCCTGCCTGTCTCCG c.1440
S G T P E A E G P L S A G P P P C L S P p.480
. . | 20 . . . g.104019
GCTCTCCTAGGCCCCCTGTCCTCCCCGT | CCCCCAGGATCTCTGACATCCTGAACTCTGTG c.1500
A L L G P L S S P S | P R I S D I L N S V p.500
. . . . . . g.104079
AGGAGGGGCTCAGGGACCCCAGAAGCCGAGGGCCCCTCGCCAGTGGGGCCCCCGCCCTGC c.1560
R R G S G T P E A E G P S P V G P P P C p.520
. . . | 21. . . g.109753
CCATCTCCGACTATCCCTGGCCCCCTGCCCACCCCAT | CCCGGAAGCAGGAGATCATTAAG c.1620
P S P T I P G P L P T P S | R K Q E I I K p.540
. . . . . | 22 . g.109928
ACCACGGAGCAGCTCATCGAGGCCGTCAACAACGGTGACTTTGAGGCCTACGC | GAAAATC c.1680
T T E Q L I E A V N N G D F E A Y A | K I p.560
. . . . . . g.109988
TGTGACCCAGGGCTGACCTCGTTTGAGCCTGAAGCACTGGGCAACCTGGTTGAAGGGATG c.1740
C D P G L T S F E P E A L G N L V E G M p.580
. . | 23 . . . g.110369
GACTTCCACAGATTCTACTTCGAGAACC | TGCTGGCCAAGAACAGCAAGCCGATCCACACG c.1800
D F H R F Y F E N L | L A K N S K P I H T p.600
. . . . . . g.110429
ACCATCCTGAACCCACACGTGCACGTCATTGGAGAGGATGCCGCCTGCATCGCTTACATC c.1860
T I L N P H V H V I G E D A A C I A Y I p.620
. . . . . . g.110489
CGGCTCACGCAGTACATTGACGGGCAGGGCCGGCCCCGCACCAGCCAGTCTGAGGAGACC c.1920
R L T Q Y I D G Q G R P R T S Q S E E T p.640
. . . . . . g.110549
CGCGTGTGGCACCGCCGCGACGGCAAGTGGCAGAACGTGCACTTCCACTGCTCGGGCGCG c.1980
R V W H R R D G K W Q N V H F H C S G A p.660
. . g.110570
CCTGTGGCCCCGCTGCAGTGA | c.2002
P V A P L Q X p.666
| 24 . . . . . . g.111167
ag | agctgcgccctggtttcgccggacagagttggtgtttggagcccgactgccctcgggc c.*60
. . . . . . g.111227
acacggcctgcctgtcgcatgtttgtgtctgcctcgttccctcccctggtgcctgtgtct c.*120
. . . . . . g.111287
gcagaaaaacaagaccagatgtgatttgttaaaaaaaaacaaaaaaaaaaaaaaaaaaaa c.*180
. . . . . . g.111347
caagatgacgacgacaaccacaaaaaaaattgacatcagatgaaatgaaaaaaaaaaaaa c.*240
. . . . . . g.111407
acaaaaaaaactaaaggaaggaaaaagctgtaaaaatcactggcattcgtggggccactc c.*300
. . . . . . g.111467
cccacccaagctccacgtgtgtccgtctgtgctcctggcctctgggggaccagctgggac c.*360
. . . . . . g.111527
atgaacttgtctgccaggcccccgtcgcgtgctgaacggtgttagtttgtaggtaacgca c.*420
. . . . . . g.111587
cacaccccacacctaaggtgtctgcatcctcctgccaacgcatgggctccacgtggtgtg c.*480
. . . . . . g.111647
ctcgctggctgtcgtgactgtcagctgtctcttgggaggggctgtgggggcccgctgggc c.*540
. . . . . . g.111707
tgcctcctttcccgctagttgtgcctgagagttgctgttgttcctgctttcccttccctt c.*600
. . . . . . g.111767
cctttcatcccctgaagggctaggtgtgggttttccgtgcccggtatccccacacaccca c.*660
. . . . . . g.111827
gcacggacaacccttcggcagagcccaggccggcccctcaccccctggagtattgaaact c.*720
. . . . . . g.111887
ggagtcccgtccccaaggccttcagagatgcccctacacacccagggctccagctctggt c.*780
. . . . . . g.111947
ccttctgggggagtaaagtgcaaagaggggcacagcttagttttgggcctctcgccgagc c.*840
. . . . . . g.112007
aagagacagcactgctggctacagctccaacacagccagctgtggcaagaggactctgcc c.*900
. . . . . . g.112067
tgggctggcccccctcctgtgtgaggtgtctgtcccttctctgctggccagcagcagatg c.*960
. . . . . . g.112127
cactggcagctcccaaccctgtttccgcccctcggccctcccccagcctgttcggcttct c.*1020
. . . . . . g.112187
ctgcagcccgcaagggggagcagacttttgacaaaggactgcgggcctcgctcaagtccc c.*1080
. . . . . . g.112247
tgagcccccagctgaagctgggaggggaggccaggctttgtgtctgggcatattcgtctg c.*1140
. . . . . . g.112307
ctgatggggtttggggaagcctggggcttggggtttggtcgggtggtgcagctagtggca c.*1200
. . . . . . g.112367
gagcgggatcagaggtggtggctgcccagcttctgggctgagacaagggtctgtgcaggg c.*1260
. . . . . . g.112427
gtttactgaagtgggagtgcctttggaatctgggccgggagcagaagggagcaaaagcta c.*1320
. . . . . . g.112487
cagtgggagccagcctagggcacatgggaggcgtgagggcagtgctgcccgtgcagtgtc c.*1380
. . . . . . g.112547
aggtgtgccagtgccttggcgggctgcagtgcgtgtgagggcaccttctaggtgggccag c.*1440
. . . . . . g.112607
ggatgcagctatggagataaggcgggctggggacagaaacaggtgggcacagggcccagg c.*1500
. . . . . . g.112667
acaccagcggatggagggcagggtctagccctgtgctcctgagcgtcggctgcctgggtt c.*1560
. . . . . . g.112727
cgaggcggtgggtccccggccccttgtgatggtgtgtaccatgggggagctcggggacag c.*1620
. . . . . . g.112787
ggcaagcccgagcatggtggggctgcagggtgggtctgaagccaggttgggtgggggtgg c.*1680
. . . . . . g.112847
tcacaagccctgactgcagagggtcaggggctcctgccccagtgcctgcccactttcaat c.*1740
. . . . . . g.112907
tcacattgttttcaacaaggattttctttatcttcccctacaaatcaagccaagggaggg c.*1800
. . . . . . g.112967
gcacagaatggggaacaggacacaggatcctaaactccaaggggactgtccaccgatgaa c.*1860
. . . . . . g.113027
cactcagagtggacaccatcttccgtccacgctgtgcccaggacagctgtccccatccat c.*1920
. . . . . . g.113087
gaacacagggtaaacatctgccgggctccgcaccagtggctccctgggccatgggacagc c.*1980
. . . . . . g.113147
ggcagggctcaccacggacagcacgtggcccagcagccggccaccctggcgtcctggggc c.*2040
. . . . . . g.113207
ctcctcccctcctctccctctcaccttgtcacctccacggagctgcctgtctgggataat c.*2100
. . . . . . g.113267
ttggggattttttttctgggggataattcttttgcatgacccctaaagagcaagccacac c.*2160
. . . . . . g.113327
cggtctgctagctaggtgtccgcggtgtggtggtggcggccgctggccagcgctgcaagg c.*2220
. . . . . . g.113387
ggtcggctgcccacggtgctggctggcctcccctcctctctctttttgctgagtttcatt c.*2280
. . . . . . g.113447
gtcttttctttctgagccttgtaagtgtacaaaaattattcttattttgttctgtctcgg c.*2340
. . . g.113482
gaaactgcaaataaaagaaaaacaggacaaactgc c.*2375
(downstream sequence)
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