(used for variant description)
(last modified January 27, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_201596.2 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_201596.2.
(upstream sequence)
. . . . . . g.5060
gaggaggaggggacccgccgccgggggctggctgcttcgctccgagccgacttttcgcca c.-1
. . . . . . g.5120
ATGGTCCAAAGGGACATGTCCAAGTCGCCTCCCACAGCGGCGGCGGCGGTGGCGCAGGAG c.60
M V Q R D M S K S P P T A A A A V A Q E p.20
. . . . . . g.5180
ATCCAGATGGAACTGCTAGAGAACGTGGCTCCCGCGGGGGCGCTCGGAGCCGCCGCACAG c.120
I Q M E L L E N V A P A G A L G A A A Q p.40
| 02 . . . . . . g.15266
| TCATATGGAAAAGGAGCCAGAAGGAAAAACAGATTTAAAGGATCTGATGGAAGCACGTCA c.180
| S Y G K G A R R K N R F K G S D G S T S p.60
. . . | 03 . . . g.266274
TCTGATACTACCTCAAATAGTTTTGTTCGCCAG | GGTTCGGCAGACTCCTACACTAGCCGT c.240
S D T T S N S F V R Q | G S A D S Y T S R p.80
. . . . . . g.266334
CCATCCGATTCCGATGTATCTCTGGAGGAGGACCGGGAGGCAGTGCGCAGAGAAGCGGAG c.300
P S D S D V S L E E D R E A V R R E A E p.100
. . . | 04 . . . g.362705
CGGCAGGCCCAGGCACAGTTGGAAAAAGCAAAG | ACAAAGCCCGTTGCATTTGCGGTTCGG c.360
R Q A Q A Q L E K A K | T K P V A F A V R p.120
. . . . . . g.362765
ACAAATGTCAGCTACAGTGCGGCCCATGAAGATGATGTTCCAGTGCCTGGCATGGCCATC c.420
T N V S Y S A A H E D D V P V P G M A I p.140
. . . | 05 . . . g.365159
TCATTCGAAGCAAAAGATTTTCTGCATGTTAAGGAA | AAATTTAACAATGACTGGTGGATA c.480
S F E A K D F L H V K E | K F N N D W W I p.160
. . . . . . g.365219
GGGCGATTGGTAAAAGAAGGCTGTGAAATCGGATTCATTCCAAGCCCAGTCAAACTAGAA c.540
G R L V K E G C E I G F I P S P V K L E p.180
. . . . . | 06 . g.370801
AACATGAGGCTGCAGCATGAACAGAGAGCCAAGCAAGGGAAATTCTACTCCAG | TAAATCA c.600
N M R L Q H E Q R A K Q G K F Y S S | K S p.200
. . . . . . g.370861
GGAGGAAATTCATCATCCAGTTTGGGTGACATAGTACCTAGTTCCAGAAAATCAACACCT c.660
G G N S S S S L G D I V P S S R K S T P p.220
. | 07 . . . . . g.378609
CCATCATCTG | CTATAGACATAGATGCTACTGGCTTAGATGCAGAAGAAAATGATATTCCA c.720
P S S A | I D I D A T G L D A E E N D I P p.240
. . . . . . g.378669
GCAAACCACCGCTCCCCTAAACCCAGTGCAAACAGTGTAACGTCACCCCACTCCAAAGAG c.780
A N H R S P K P S A N S V T S P H S K E p.260
. . | 08 . . . . g.382695
AAAAGAATGCCCTTCTTTAAGAAG | ACAGAGCACACTCCTCCGTATGATGTGGTACCTTCC c.840
K R M P F F K K | T E H T P P Y D V V P S p.280
. . . . | 09 . . g.383248
ATGCGACCAGTGGTCCTAGTGGGCCCTTCTCTGAAGGGCTACGAG | GTCACAGATATGATG c.900
M R P V V L V G P S L K G Y E | V T D M M p.300
. . . . | 10 . . g.391927
CAAAAAGCGCTGTTTGATTTTTTAAAACACAGATTTGAAGGGCG | GATATCCATCACAAGG c.960
Q K A L F D F L K H R F E G R | I S I T R p.320
. . . . . . g.391987
GTCACCGCTGACATCTCGCTTGCCAAACGCTCGGTATTAAACAATCCCAGTAAGCACGCA c.1020
V T A D I S L A K R S V L N N P S K H A p.340
. . . | 11 . . . g.398425
ATAATAGAAAGATCCAACACAAGGTCAAGCTTAG | CGGAAGTTCAGAGTGAAATCGAAAGG c.1080
I I E R S N T R S S L A | E V Q S E I E R p.360
. . . . . . g.398485
ATTTTTGAACTTGCAAGAACATTGCAGTTGGTGGTCCTTGACGCGGATACAATTAATCAT c.1140
I F E L A R T L Q L V V L D A D T I N H p.380
. . . . . . g.398545
CCAGCTCAACTCAGTAAAACCTCCTTGGCCCCTATTATAGTATATGTAAAGATTTCTTCT c.1200
P A Q L S K T S L A P I I V Y V K I S S p.400
| 12 . . . . . . g.400478
CCTAAG | GTTTTACAAAGGTTAATAAAATCTCGAGGGAAATCTCAAGCTAAACACCTCAAC c.1260
P K | V L Q R L I K S R G K S Q A K H L N p.420
. . . . | 13 . . g.402521
GTCCAGATGGTAGCAGCTGATAAACTGGCTCAGTGTCCTCCA | GAGCTGTTCGATGTGATC c.1320
V Q M V A A D K L A Q C P P | E L F D V I p.440
. . . . . . g.402581
TTGGATGAGAACCAGCTTGAGGATGCCTGTGAGCACCTTGCCGACTATCTGGAGGCCTAC c.1380
L D E N Q L E D A C E H L A D Y L E A Y p.460
. . . . . . g.402641
TGGAAGGCCACCCATCCTCCCAGCAGTAGCCTCCCCAACCCTCTCCTTAGCCGTACATTA c.1440
W K A T H P P S S S L P N P L L S R T L p.480
. . . . | 14 . g.403565
GCCACTTCAAGTCTGCCTCTTAGCCCCACCCTAGCCTCTAATTCACAG | GGTTCTCAAGGT c.1500
A T S S L P L S P T L A S N S Q | G S Q G p.500
. . . . . . g.403625
GATCAGAGGACTGATCGCTCCGCTCCTATCCGTTCTGCTTCCCAAGCTGAAGAAGAACCT c.1560
D Q R T D R S A P I R S A S Q A E E E P p.520
. . . . . . g.403685
AGTGTGGAACCAGTCAAGAAATCCCAGCACCGCTCTTCCTCCTCAGCCCCACACCACAAC c.1620
S V E P V K K S Q H R S S S S A P H H N p.540
. . . . . . g.403745
CATCGCAGTGGGACAAGTCGCGGCCTCTCCAGGCAAGAGACATTTGACTCGGAAACCCAG c.1680
H R S G T S R G L S R Q E T F D S E T Q p.560
. . . . . . g.403805
GAGAGTCGAGACTCTGCCTACGTAGAGCCAAAGGAAGATTATTCCCATGACCACGTGGAC c.1740
E S R D S A Y V E P K E D Y S H D H V D p.580
. . . . . . g.403865
CACTATGCCTCACACCGTGACCACAACCACAGAGACGAGACCCACGGGAGCAGTGACCAC c.1800
H Y A S H R D H N H R D E T H G S S D H p.600
. . . . . . g.403925
AGACACAGGGAGTCCCGGCACCGTTCCCGGGACGTGGATCGAGAGCAGGACCACAACGAG c.1860
R H R E S R H R S R D V D R E Q D H N E p.620
. . . . . . g.403985
TGCAACAAGCAGCGCAGCCGTCATAAATCCAAGGATCGCTACTGTGAAAAGGATGGAGAA c.1920
C N K Q R S R H K S K D R Y C E K D G E p.640
. . . . . . g.404045
GTGATATCAAAAAAACGGAATGAGGCTGGGGAGTGGAACAGGGATGTTTACATCCGCCAA c.1980
V I S K K R N E A G E W N R D V Y I R Q p.660
g.404048
TGA c.1983
X p.660
. . . . . . 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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