(used for variant description)
(last modified July 6, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_015981.3 in the CAMK2A gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_047040.1, covering CAMK2A transcript NM_015981.3.
(upstream sequence)
. . . g.5035
ggttgccatggggacctggatgctgacgaaggctc c.-181
. . . . . . g.5095
gcgaggctgtgagcagccacagtgccctgctcagaagccccgggctcgtcagtcaaaccg c.-121
. . . . . . g.5155
gttctctgtttgcactcggcagcacgggcaggcaagtggtccctaggttcgggagcagag c.-61
. . . . . . g.5215
cagcagcgcctcagtcctggtcccccagtcccaagcctcacctgcctgcccagcgccagg c.-1
. . . . . . g.5275
ATGGCCACCATCACCTGCACCCGCTTCACGGAAGAGTACCAGCTCTTCGAGGAATTGGGC c.60
M A T I T C T R F T E E Y Q L F E E L G p.20
| 02 . . . . . . g.21739
AA | GGGAGCCTTCTCGGTGGTGCGAAGGTGTGTGAAGGTGCTGGCTGGCCAGGAGTATGCT c.120
K | G A F S V V R R C V K V L A G Q E Y A p.40
. . . | 03. . . g.29848
GCCAAGATCATCAACACAAAGAAGCTGTCAGCCAGAG | ACCATCAGAAGCTGGAGCGTGAA c.180
A K I I N T K K L S A R D | H Q K L E R E p.60
. . . | 04. . . g.37246
GCCCGCATCTGCCGCCTGCTGAAGCACCCCAACATCG | TCCGACTACATGACAGCATCTCA c.240
A R I C R L L K H P N I V | R L H D S I S p.80
. . . | 05 . . . g.38037
GAGGAGGGACACCACTACCTGATCTTCGACCT | GGTCACTGGTGGGGAACTGTTTGAAGAT c.300
E E G H H Y L I F D L | V T G G E L F E D p.100
. . . | 06 . . g.38217
ATCGTGGCCCGGGAGTATTACAGTGAGGCGGATGCCAG | TCACTGTATCCAGCAGATCCTG c.360
I V A R E Y Y S E A D A S | H C I Q Q I L p.120
. . . . . | 07 . g.41303
GAGGCTGTGCTGCACTGCCACCAGATGGGGGTGGTGCACCGGGACCTGAAG | CCTGAGAAT c.420
E A V L H C H Q M G V V H R D L K | P E N p.140
. . . . . . g.41363
CTGTTGCTGGCCTCCAAGCTCAAGGGTGCCGCAGTGAAGCTGGCAGACTTTGGCCTGGCC c.480
L L L A S K L K G A A V K L A D F G L A p.160
. . . | 08 . . . g.42801
ATAGAGGTGGAGGGGGAGCAGCAGGCATGGTTTG | GGTTTGCAGGGACTCCTGGATATCTC c.540
I E V E G E Q Q A W F G | F A G T P G Y L p.180
. . . . . | 09 g.42998
TCCCCAGAAGTGCTGCGGAAGGACCCGTACGGGAAGCCTGTGGACCTGTGGGCTTGTG | GG c.600
S P E V L R K D P Y G K P V D L W A C G | p.200
. . . . . . g.43058
GTCATCCTGTACATCCTGCTGGTTGGGTACCCCCCGTTCTGGGATGAGGACCAGCACCGC c.660
V I L Y I L L V G Y P P F W D E D Q H R p.220
. . . | 10 . . . g.44057
CTGTACCAGCAGATCAAAGCCGGCGCCTATGAT | TTCCCATCGCCGGAATGGGACACTGTC c.720
L Y Q Q I K A G A Y D | F P S P E W D T V p.240
. . . . . . g.44117
ACCCCGGAAGCCAAGGATCTGATCAATAAGATGCTGACCATTAACCCATCCAAACGCATC c.780
T P E A K D L I N K M L T I N P S K R I p.260
. . . | 11 . . . g.44555
ACAGCTGCCGAAGCCCTTAAGCACCCCTGGATCTCG | CACCGCTCCACCGTGGCATCCTGC c.840
T A A E A L K H P W I S | H R S T V A S C p.280
. . . . . . g.44615
ATGCACAGACAGGAGACCGTGGACTGCCTGAAGAAGTTCAATGCCAGGAGGAAACTGAAG c.900
M H R Q E T V D C L K K F N A R R K L K p.300
| 12 . . . . | 13 . . g.49656
| GGAGCCATTCTCACCACGATGCTGGCCACCAGGAACTTCTCCG | GAGGGAAGAGTGGGGGA c.960
| G A I L T T M L A T R N F S G | G K S G G p.320
. . | 14 . . . | 15. g.56095
AACAAGAAGAGCGATGGTGTGAAG | AAAAGAAAGTCCAGTTCCAGCGTTCAGTTAATG | GAA c.1020
N K K S D G V K | K R K S S S S V Q L M | E p.340
. . . . | 16 . . g.63474
TCCTCAGAGAGCACCAACACCACCATCGAGGATGAAGACACCAAAG | TGCGGAAACAGGAA c.1080
S S E S T N T T I E D E D T K V | R K Q E p.360
. . . . . . g.63534
ATTATAAAAGTGACAGAGCAGCTGATTGAAGCCATAAGCAATGGAGATTTTGAGTCCTAC c.1140
I I K V T E Q L I E A I S N G D F E S Y p.380
| 17 . . . . . . g.66612
AC | GAAGATGTGCGACCCTGGCATGACAGCCTTCGAACCTGAGGCCCTGGGGAACCTGGTT c.1200
T | K M C D P G M T A F E P E A L G N L V p.400
. . . | 18. . . g.71646
GAGGGCCTGGACTTCCATCGATTCTATTTTGAAAACC | TGTGGTCCCGGAACAGCAAGCCC c.1260
E G L D F H R F Y F E N L | W S R N S K P p.420
. . . . . . g.71706
GTGCACACCACCATCCTGAATCCCCACATCCACCTGATGGGCGACGAGTCAGCCTGCATC c.1320
V H T T I L N P H I H L M G D E S A C I p.440
. . . . . . g.71766
GCCTACATCCGCATCACGCAGTACCTGGACGCTGGCGGCATCCCACGCACCGCCCAGTCG c.1380
A Y I R I T Q Y L D A G G I P R T A Q S p.460
. . . . . . g.71826
GAGGAGACCCGTGTCTGGCACCGCCGGGATGGCAAATGGCAGATCGTCCACTTCCACAGA c.1440
E E T R V W H R R D G K W Q I V H F H R p.480
. . | 19 . g.72161
TCTGGGGCGCCCTCCGTCCTGCCCCA | CTGA c.1470
S G A P S V L P H | X p.489
. . . . . . g.72221
gggaccaggctggggtcgctgcgttgctgtgccgcagagatccactctgtccgtggagtg c.*60
. . . . . . g.72281
gagctgctggttctcccaggtggattttgctggaattctcccatgtcatcaccccaccac c.*120
. . . . . . g.72341
cgtcacttctgtacctgcatcaagaaaacctgcttgttcacaaaagtcatcgcaacttca c.*180
. . . . . . g.72401
gagcgaacggccacatctccccacctctcacccccaccctctcccctgccaggctggggc c.*240
. . . . . . g.72461
ttcctcaggcatgggtgtccacagcactggccccctctccccagcctcagctgctgtccg c.*300
. . . . . . g.72521
cctgatctgtcttgggctgtaggctagaatgcccgggctggtgcccaccaggggctgggg c.*360
. . . . . . g.72581
agaaggaggggtggcatgatgaggaaggcagcatccgtccgtccctctcccagacctctc c.*420
. . . . . . g.72641
ctcttccagtgtccccggggaagggcagatgacactcccttccccctaagccaaccgcac c.*480
. . . . . . g.72701
tgaaggagtggggagaagagcatacgccaggagcctcctgcctcaaagtgctcccctaag c.*540
. . . . . . g.72761
tcttcttcctcctgtgctgacctcagggtggtctgacccttccctcggtgtgggggatgt c.*600
. . . . . . g.72821
ggccctctcaggtgcccctacttgctttctgcttccttctggtgaagtccacctccaaca c.*660
. . . . . . g.72881
ttaacctgcccaccccacccccgtcatccctggagaattccagctttgtcgtatctcaga c.*720
. . . . . . g.72941
gagggaatctaattgtttttggggggcaaaagaaagcaacgtttaggtatcacttctact c.*780
. . . . . . g.73001
tggaccgcatgcctttttatagccaaatttctgtgtatttcgtaaatggatttcgcgtta c.*840
. . . . . . g.73061
atggatatttatgtaataactagacttctcagattattgtgagaagggtcaggttggaag c.*900
. . . . . . g.73121
gggtgtaggaagaggggtgaggggtagtttttttctgttctagttttttttttttttttt c.*960
. . . . . . g.73181
gtcatctctgaggtggaccttgtcacctgtggttattggggccaaggtggactcagctcc c.*1020
. . . . . . g.73241
ggggagaagggcctctctgccatttcggtcccaaggtgagctgacacaggcgttcctttt c.*1080
. . . . . . g.73301
gggactgtggaagcatcagatgccagcactgactcaggaacagcaagtcagggcagagag c.*1140
. . . . . . g.73361
gaggagggaggctgtcaggatggaaatacctggacttttctttgcttccctcgcaaactg c.*1200
. . . . . . g.73421
gggtcttctctaccgaacttcccaggatttcatctcaccatatctgtgtgccgcccccag c.*1260
. . . . . . g.73481
caccccccacccacctctggggggcccgtgagcgtgtgtcttcattgcctctctcccctt c.*1320
. . . . . . g.73541
ggcgtctgatgaccacagcaaagcactgggaatttctactcttcatgcctcatcctgcag c.*1380
. . . . . . g.73601
cctcgggttcgcattctctctttcttttcctctttccctctttccctgggattgactctg c.*1440
. . . . . . g.73661
agtggaataccttggcacatccactaggatctactgtctgcactgttttctttgcatgac c.*1500
. . . . . . g.73721
tttatacgcagtaagtatgttgaaaacaaacaaaaagaagaaaacactcaacaaaaccaa c.*1560
. . . . . . g.73781
tctacatgttttggactaaaaaaaaaaatagaggttgtattctcagtgtccgactcggaa c.*1620
. . . . . . g.73841
ttatgttgctgcctctctgtgcttttggcctctgtgtggccgtgttttgccagcatgaga c.*1680
. . . . . . g.73901
tactgtcccctctggaggattttaggggaggaagagccacgtccccagggattggaggag c.*1740
. . . . . . g.73961
gctccggtaccctcgaccctcctgggtgttggttggagcagaactggtgaggatgtttga c.*1800
. . . . . . g.74021
tccgagattttctgagctctccccaatcaccagctgtctgctgggttcttttctcaagtc c.*1860
. . . . . . g.74081
ctgctgcccaggcccaggtgagacaggcaacgccaggtctgcaggccaggagagatgctg c.*1920
. . . . . . g.74141
cccaggcctcctggtttccaagctggtccatcactggcctctgtccttggcagagacctt c.*1980
. . . . . . g.74201
gctgcccaggcccaggggcaggctcttggcctgccccaggcccagagggcttcccagtaa c.*2040
. . . . . . g.74261
ggcccagtgatcccattatcccaggggcaaaaccacctgtccccttttgagctgccagtt c.*2100
. . . . . . g.74321
ccctacagccatccccagtcaagggtgagggtgtggccttcaccaggggctgctgtaatt c.*2160
. . . . . . g.74381
accgagcaaggtctgagctcttcttcagcctcagttccctcattggttaaaagggttctt c.*2220
. . . . . . g.74441
tgttcccatccagccgatgaaggagcaaacgtctggctatgtgaagcctaatttacctgc c.*2280
. . . . . . g.74501
aggaactggcagggatagtcactggctggactcctgtttacttctagacctggtcaggct c.*2340
. . . . . . g.74561
ccatcccctcccccacctgcccctgattcccctcgtcggtgcctgtcaactgcttttcag c.*2400
. . . . . . g.74621
cagtggactgcaggggaaagagcagtgatttggggtgagtaggcttcaattcccagctct c.*2460
. . . . . . g.74681
gaccagacttgctgtgtgaccttgggcaagttcctttccctctttggagcttggtttccc c.*2520
. . . . . . g.74741
tgccagaggaaactgagctggaggagcctgaggtcctgcctttcattggctgacacacct c.*2580
. . . . . . g.74801
cctgtccactgtgtcactctccaagtgccagagaagtggaggcagatcgctaccccaggc c.*2640
. . . . . . g.74861
tgagatggcccccactgtgaaggccacgcctgtgggtgggcagccacctggtgccaccac c.*2700
. . . . . . g.74921
agggcaccagggatgatcctgatgtggcaggcaggggagactcacagaaaaatctgccca c.*2760
. . . . . . g.74981
gagcctaccctcaccagacaaactctgtgctcctccaaaacatcctttagatgcaaaata c.*2820
. . . . . . g.75041
ataataataataataataaataaataaataaaaatccaaacccaagtcaaaaccttggct c.*2880
. . . . . . g.75101
ccagcatgaaaacacgtttacaggaaagtgttctcctgggtttgtgcccaccatggtgcg c.*2940
. . . . . . g.75161
aatcctgacccaaggcctcctgtctcccttcaaagggagacccttttgggggatgagttt c.*3000
. . . . . . g.75221
gccagactccccgtgctggtttctttgttactatttgtttggggttttgttttagttctt c.*3060
. . . . . . g.75281
tttttttttcttttcttttttaaaaatatgtggctgtgaacttgaatgaacactgctcaa c.*3120
. . . . . . g.75341
actttctgctattggggggggcgggtgggatgggaagaaggggcgtttgttttattcttg c.*3180
. . . g.75380
gtgttttcagtgcaataaatagctacaaacttctgtgca c.*3219
(downstream sequence)
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