(used for variant description)
(last modified January 27, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_000724.3 in the CACNB2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_016195.1, covering CACNB2 transcript NM_000724.3.
(upstream sequence)
. g.124993
agcaaatcagatatg c.-601
. . . . . . g.125053
cccaaaacgttacagaggtaacagtgaatccaggatgctgctgtcagcctgtgcattgtg c.-541
. . . . . . g.125113
aagaaggcaatcataggcgagcagccgcgggagcaggaacagcagcgtgctaagaagcag c.-481
. . . . . . g.125173
tcacataaacagcagcaggagtaggcctcctgcttttcaaaagcagagtactgcagggtc c.-421
. . . . . . g.125233
gcgaaatgcaagacactcagatgtttgaaaatctcccgagttgagaatggctactgtaaa c.-361
. . . . . . g.125293
agcgtcaccaagaaactctgacgatctggacagtcctaactctgtgttagcaatacttac c.-301
. . . . . . g.125353
ttccggaaaattaatgctacttcttgtagatttttgcaaataggaaacccccttgaagaa c.-241
. . . . . . g.125413
gatctcaaattacgccccccacccccaaaaaaagacaaacaggggagaacaaagttttgg c.-181
. . . . . . g.125473
catgcctgcaggaacggtggcttttttagaaactacctaggaggcagaagctaagtgatt c.-121
. . . . . . g.125533
tgctcatgcctcttacctgggagtagaaggtgggaagaaatggaccgaggctgtgacgag c.-61
. . . . . . g.125593
aagacaaggcacagtgcagcttggtgaagccacacgctgactgcgttctgccccctcttc c.-1
. . . . | 02 . g.266259
ATGCAGTGCTGCGGGCTGGTGCATCGCCGGCGAGTACGGGTGTCCTAT | GGTTCGGCAGAC c.60
M Q C C G L V H R R R V R V S Y | G S A D p.20
. . . . . . g.266319
TCCTACACTAGCCGTCCATCCGATTCCGATGTATCTCTGGAGGAGGACCGGGAGGCAGTG c.120
S Y T S R P S D S D V S L E E D R E A V p.40
. . . . | 03 . g.362690
CGCAGAGAAGCGGAGCGGCAGGCCCAGGCACAGTTGGAAAAAGCAAAG | ACAAAGCCCGTT c.180
R R E A E R Q A Q A Q L E K A K | T K P V p.60
. . . . . . g.362750
GCATTTGCGGTTCGGACAAATGTCAGCTACAGTGCGGCCCATGAAGATGATGTTCCAGTG c.240
A F A V R T N V S Y S A A H E D D V P V p.80
. . . . . | 04 . g.365144
CCTGGCATGGCCATCTCATTCGAAGCAAAAGATTTTCTGCATGTTAAGGAA | AAATTTAAC c.300
P G M A I S F E A K D F L H V K E | K F N p.100
. . . . . . g.365204
AATGACTGGTGGATAGGGCGATTGGTAAAAGAAGGCTGTGAAATCGGATTCATTCCAAGC c.360
N D W W I G R L V K E G C E I G F I P S p.120
. . . . . . g.365264
CCAGTCAAACTAGAAAACATGAGGCTGCAGCATGAACAGAGAGCCAAGCAAGGGAAATTC c.420
P V K L E N M R L Q H E Q R A K Q G K F p.140
| 05 . . . . . g.370846
TACTCCAG | TAAATCAGGAGGAAATTCATCATCCAGTTTGGGTGACATAGTACCTAGTTCC c.480
Y S S | K S G G N S S S S L G D I V P S S p.160
. . | 06 . . . . g.378594
AGAAAATCAACACCTCCATCATCTG | CTATAGACATAGATGCTACTGGCTTAGATGCAGAA c.540
R K S T P P S S A | I D I D A T G L D A E p.180
. . . . . . g.378654
GAAAATGATATTCCAGCAAACCACCGCTCCCCTAAACCCAGTGCAAACAGTGTAACGTCA c.600
E N D I P A N H R S P K P S A N S V T S p.200
. . . | 07 . . g.382680
CCCCACTCCAAAGAGAAAAGAATGCCCTTCTTTAAGAAG | ACAGAGCACACTCCTCCGTAT c.660
P H S K E K R M P F F K K | T E H T P P Y p.220
. . . . . . g.382740
GATGTGGTACCTTCCATGCGACCAGTGGTCCTAGTGGGCCCTTCTCTGAAGGGCTACGAG c.720
D V V P S M R P V V L V G P S L K G Y E p.240
| 08 . . . . . | 09 g.391912
| GTCACAGATATGATGCAAAAAGCGCTGTTTGATTTTTTAAAACACAGATTTGAAGGGCG | G c.780
| V T D M M Q K A L F D F L K H R F E G R | p.260
. . . . . . g.391972
ATATCCATCACAAGGGTCACCGCTGACATCTCGCTTGCCAAACGCTCGGTATTAAACAAT c.840
I S I T R V T A D I S L A K R S V L N N p.280
. . . . | 10 . g.398410
CCCAGTAAGCACGCAATAATAGAAAGATCCAACACAAGGTCAAGCTTAG | CGGAAGTTCAG c.900
P S K H A I I E R S N T R S S L A | E V Q p.300
. . . . . . g.398470
AGTGAAATCGAAAGGATTTTTGAACTTGCAAGAACATTGCAGTTGGTGGTCCTTGACGCG c.960
S E I E R I F E L A R T L Q L V V L D A p.320
. . . . . . g.398530
GATACAATTAATCATCCAGCTCAACTCAGTAAAACCTCCTTGGCCCCTATTATAGTATAT c.1020
D T I N H P A Q L S K T S L A P I I V Y p.340
. . | 11 . . . . g.400463
GTAAAGATTTCTTCTCCTAAG | GTTTTACAAAGGTTAATAAAATCTCGAGGGAAATCTCAA c.1080
V K I S S P K | V L Q R L I K S R G K S Q p.360
. . . . . | 12. g.402506
GCTAAACACCTCAACGTCCAGATGGTAGCAGCTGATAAACTGGCTCAGTGTCCTCCA | GAG c.1140
A K H L N V Q M V A A D K L A Q C P P | E p.380
. . . . . . g.402566
CTGTTCGATGTGATCTTGGATGAGAACCAGCTTGAGGATGCCTGTGAGCACCTTGCCGAC c.1200
L F D V I L D E N Q L E D A C E H L A D p.400
. . . . . . g.402626
TATCTGGAGGCCTACTGGAAGGCCACCCATCCTCCCAGCAGTAGCCTCCCCAACCCTCTC c.1260
Y L E A Y W K A T H P P S S S L P N P L p.420
. . . . . . g.402686
CTTAGCCGTACATTAGCCACTTCAAGTCTGCCTCTTAGCCCCACCCTAGCCTCTAATTCA c.1320
L S R T L A T S S L P L S P T L A S N S p.440
| 13 . . . . . . g.403610
CAG | GGTTCTCAAGGTGATCAGAGGACTGATCGCTCCGCTCCTATCCGTTCTGCTTCCCAA c.1380
Q | G S Q G D Q R T D R S A P I R S A S Q p.460
. . . . . . g.403670
GCTGAAGAAGAACCTAGTGTGGAACCAGTCAAGAAATCCCAGCACCGCTCTTCCTCCTCA c.1440
A E E E P S V E P V K K S Q H R S S S S p.480
. . . . . . g.403730
GCCCCACACCACAACCATCGCAGTGGGACAAGTCGCGGCCTCTCCAGGCAAGAGACATTT c.1500
A P H H N H R S G T S R G L S R Q E T F p.500
. . . . . . g.403790
GACTCGGAAACCCAGGAGAGTCGAGACTCTGCCTACGTAGAGCCAAAGGAAGATTATTCC c.1560
D S E T Q E S R D S A Y V E P K E D Y S p.520
. . . . . . g.403850
CATGACCACGTGGACCACTATGCCTCACACCGTGACCACAACCACAGAGACGAGACCCAC c.1620
H D H V D H Y A S H R D H N H R D E T H p.540
. . . . . . g.403910
GGGAGCAGTGACCACAGACACAGGGAGTCCCGGCACCGTTCCCGGGACGTGGATCGAGAG c.1680
G S S D H R H R E S R H R S R D V D R E p.560
. . . . . . g.403970
CAGGACCACAACGAGTGCAACAAGCAGCGCAGCCGTCATAAATCCAAGGATCGCTACTGT c.1740
Q D H N E C N K Q R S R H K S K D R Y C p.580
. . . . . . g.404030
GAAAAGGATGGAGAAGTGATATCAAAAAAACGGAATGAGGCTGGGGAGTGGAACAGGGAT c.1800
E K D G E V I S K K R N E A G E W N R D p.600
. g.404048
GTTTACATCCGCCAATGA c.1818
V Y I R Q X p.605
. . . . . . g.404108
gttttgcccgtttgtgtttttttttttttttttttgaagtcttgtataactaacagcatc c.*60
. . . . . . g.404168
cccaaaacaaagtctttggggtctacactgcaatcatatgtgatctgtcttgtaatattt c.*120
. . . . . . g.404228
tgtattattgctgttgcttgaatagcaatagcatggatagagtattgagatactttttct c.*180
. . . . . . g.404288
tttgtaagtgctacataaattggcctggtatggctgcagtcctccggttgcatactggac c.*240
. . . . . . g.404348
tcttcaaaaactgttttgggtagctgccacttgaacaaaatctgttgccacccaggtgat c.*300
. . . . . . g.404408
gttagtgttttaagaaatgtagttgatgtatccaacaagccagaatcagcacagataaaa c.*360
. . . . . . g.404468
agtggaatttcttgtttctccagatttttaatacgttaatacgcaggcatctgatttgca c.*420
. . . . . . g.404528
tattcattcatggaccactgtttcttgcttgtacctctggctgactaaatttggggacag c.*480
. . . . . . g.404588
attcagtcttgccttacacaaaggggatcataaagttagaatctattttctatgtactag c.*540
. . . . . . g.404648
tactgtgtactgtatagacagtttgtaaatgttatttctgcaaacaaacaccttcttatt c.*600
. . . . . . g.404708
atatatataatatatatatatatcagtttgatcacactattttagagtcttaatgccaag c.*660
. . . . . . g.404768
tcagcagatttgctttatgaattacagggactagaaatgcccacattcaggaaatttgta c.*720
. . . . . . g.404828
ataacattgtctagacacctatcctcattctagtagaaagtgtgtacatactgtaaatat c.*780
. . . . . . g.404888
gtgtgattgcttgacttgaaaaggtttgaattctgaatgttataccatccttgtaagtaa c.*840
. . . . . . g.404948
gtttgtaatttccaccataaattatggtaaatataaaactccagaggttgttctactcca c.*900
. . . . . . g.405008
tacagttcacactgattgtgacacattcttagtagctagtgtctgttctagtcactgcac c.*960
. . . . . . g.405068
tggagtctacgagccggaactcgctatatgcacgtgtgtgtgtccgtatgtaagaaagtg c.*1020
. . . . . . g.405128
tgcaccgagtgactgaatggttgagatgaattggaatgctgaagactaacgaagaaacta c.*1080
. . . . . . g.405188
gagactgatatcgagcattctgcccacctcgctctgtatttaattaattgtgctatatgt c.*1140
. . . . . . g.405248
tgctttaacaacccattgagcagtcagggaatgtgagtaagcttgctgccaaaggtaact c.*1200
. . . . . . g.405308
aggaaagcattcatctgctgcctccttgtttttgctcctagagagtgaaaatacaggcaa c.*1260
. . . . . . g.405368
ttttactgtgagtgtttcactggaaatgtacaatctttgtgtgttagagtatttgtttta c.*1320
. . . . . . g.405428
gtaagaaatgtttacacagcttgtggaattatttcgtgggaaaataaatttttataactt c.*1380
. . . . . . g.405488
ctcccacttcaatttctaaccttgcctattgttcctgttgtttgtttacctcccagttac c.*1440
. . . . . . g.405548
ctaccattcctccccaccaccgactccagcaggttcactgtctgtcagaacccagaagtg c.*1500
. . . . . . g.405608
cttcttataaccaaagtttctgttcttcagaagaaatcagggcaaaatggggtgacttga c.*1560
. . . . . . g.405668
agtgaataaaatgttaagaatattatcctacataagacatgtacacagaaggggaacctt c.*1620
. . . . . . g.405728
gaagacattatctccatgcctcaattacactgctgtaagaagcttacaatgtcatcatgt c.*1680
. . . . . . g.405788
ttaaggctaagaccttttccgtgtctcaagtgtatattttgtccagttataactggatgg c.*1740
. . . . . . g.405848
taagacagtattaagagtgcaagtacctggcacttgaagtttgtcccaggaaaatgcctg c.*1800
. . . . . . g.405908
tgtataattacctaacttcagatctgcacattaacttatttaacaaaataaatcagccgg c.*1860
. . . . . . g.405968
gcgcagtggctcatgcctgtaatcccagcaatttgggaggctgaggagggtggatcacct c.*1920
. . . . . . g.406028
gaggtcaggagttcaagaccagcctggccaacgtggcgaaaccccgtctctactaaaaag c.*1980
. . . . . g.406083
ataaaaaattagccaggtgtggtggtgcacacctgtaatcccagctacttgggag c.*2035
(downstream sequence)
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