(used for variant description)
(last modified November 14, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_006078.3 in the CACNG2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_031861.1, covering CACNG2 transcript NM_006078.3.
(upstream sequence)
g.5009
gtacttgca c.-61
. . . . . . g.5069
ccctcacacacactctcccgagaaccagaagtcggttgggtgtttatataatgaagaatt c.-1
. . . . . . g.5129
ATGGGGCTGTTTGATCGAGGTGTTCAAATGCTTTTAACCACCGTTGGTGCTTTCGCTGCC c.60
M G L F D R G V Q M L L T T V G A F A A p.20
. . . . . . g.5189
TTCAGCCTGATGACCATAGCTGTGGGAACCGACTATTGGCTCTACTCCAGAGGGGTTTGC c.120
F S L M T I A V G T D Y W L Y S R G V C p.40
. . . . . . g.5249
AAGACCAAAAGTGTCAGTGAGAATGAAACCAGCAAAAAGAACGAGGAAGTTATGACCCAT c.180
K T K S V S E N E T S K K N E E V M T H p.60
. . . | 02 . . . g.120124
TCCGGATTATGGAGAACCTGCTGCCTAGAAG | GGAATTTCAAAGGTCTGTGCAAGCAAATT c.240
S G L W R T C C L E G | N F K G L C K Q I p.80
. . . . . | 03 . g.141155
GATCACTTCCCAGAGGATGCAGATTACGAAGCTGACACAGCAGAATATTTCCTCC | GGGCC c.300
D H F P E D A D Y E A D T A E Y F L R | A p.100
. . . . . . g.141215
GTGAGGGCCTCCAGCATTTTCCCAATCCTGAGTGTGATTCTGCTTTTCATGGGTGGCCTC c.360
V R A S S I F P I L S V I L L F M G G L p.120
. . . . . . g.141275
TGCATCGCAGCCAGCGAGTTCTACAAAACTCGACACAACATCATCCTGAGTGCCGGCATC c.420
C I A A S E F Y K T R H N I I L S A G I p.140
. | 04 . . . . . g.142801
TTCTTCGTGTCTGCAG | GTCTGAGTAACATCATTGGCATCATAGTGTACATATCTGCCAAT c.480
F F V S A G | L S N I I G I I V Y I S A N p.160
. . . . . . g.142861
GCCGGAGACCCCTCCAAGAGCGACTCCAAAAAGAATAGTTACTCATACGGCTGGTCCTTC c.540
A G D P S K S D S K K N S Y S Y G W S F p.180
. . . . . . g.142921
TACTTCGGGGCCCTGTCCTTCATCATCGCCGAGATGGTCGGGGTGCTGGCGGTGCACATG c.600
Y F G A L S F I I A E M V G V L A V H M p.200
. . . . . . g.142981
TTTATCGACCGGCACAAACAGCTGCGGGCCACGGCCCGCGCCACGGACTACCTCCAGGCC c.660
F I D R H K Q L R A T A R A T D Y L Q A p.220
. . . . . . g.143041
TCTGCCATCACCCGCATCCCCAGCTACCGCTACCGCTACCAGCGCCGCAGCCGCTCCAGC c.720
S A I T R I P S Y R Y R Y Q R R S R S S p.240
. . . . . . g.143101
TCGCGCTCCACGGAGCCCTCACACTCCAGGGACGCCTCCCCCGTGGGCATCAAGGGCTTC c.780
S R S T E P S H S R D A S P V G I K G F p.260
. . . . . . g.143161
AACACCCTGCCGTCCACGGAGATCTCCATGTACACGCTCAGCAGGGACCCCCTGAAGGCC c.840
N T L P S T E I S M Y T L S R D P L K A p.280
. . . . . . g.143221
GCCACCACGCCCACCGCCACCTACAACTCCGACAGGGATAACAGCTTCCTCCAGGTTCAC c.900
A T T P T A T Y N S D R D N S F L Q V H p.300
. . . . . . g.143281
AACTGTATCCAGAAGGAGAACAAGGACTCTCTCCACTCCAACACAGCCAACCGCCGGACC c.960
N C I Q K E N K D S L H S N T A N R R T p.320
. g.143293
ACCCCCGTATAA c.972
T P V X p.323
. . . . . . g.143353
agaccgcgggcctcgccagaagaccgcgggaggagggcgcggtccccgggggcggggcgg c.*60
. . . . . . g.143413
ggcggggagacccagaccctccgctgggagaccttccaaaagcaaaaacaaaaaacaaaa c.*120
. . . . . . g.143473
aaaacaaaaaaacaaaaaacaaaaaaacacacacacacaaaaaaagagaaaaaacataac c.*180
. . . . . . g.143533
aagtaaattttaaaaaaaagaacaaaatataagaggaacaaagaagcaaaacaacaggaa c.*240
. . . . . . g.143593
atgtgggaaaatataaacgagggaagaaaacaaactttaaaaaaaagcgagagggataaa c.*300
. . . . . . g.143653
aaattaaaaatagaaaataaatctaaaagaaaatgcatgatttcccatgtaccattattt c.*360
. . . . . . g.143713
taacatttaataaaaatcaatttaaatgaaaaaataaaagggaaccaagataacattaaa c.*420
. . . . . . g.143773
gcaaaaaaaaaaaaaatgagaacagaaaggaaaggggatgtcctttgtatttttcagggt c.*480
. . . . . . g.143833
ttatgttactttttttttttttttttaactcggggagagttacttttctgttccctttaa c.*540
. . . . . . g.143893
cccccagcgggccctgcctccctgggagattggggggcgagactcaggggccctggggcc c.*600
. . . . . . g.143953
aggtgagcctgcagtcactgccaggtccctggagcccctgggtgggtgccccaggaactc c.*660
. . . . . . g.144013
caggaaggctcagagctcgagccggctccgcccagcattgatggggcaatcgtaggcctc c.*720
. . . . . . g.144073
caggtgaccgagcccttgtccctcctctccgttagggtgcctggaggggggtacacttgg c.*780
. . . . . . g.144133
ggcttgcctggccccaggttcccagtccttaatgctccttaacccactgtgatgacttcc c.*840
. . . . . . g.144193
taggccttgaggaaagggaaggagaggggaggctgccggtggcttaccaagatgccggaa c.*900
. . . . . . g.144253
accccggaatcctcagggtgagcctcttggggtcatgtccccaagctcctgtccttgggg c.*960
. . . . . . g.144313
tcaggagatgccacccccccccccgggggacatgaaacagctctccctcctcacccctca c.*1020
. . . . . . g.144373
cctcagggccacctgatgaccctggggcgatggtggaccccctgactcataagcccccca c.*1080
. . . . . . g.144433
gtcccctgggaagggggttcattgaccctttgggggtccttggactcactgatgccccct c.*1140
. . . . . . g.144493
tggggcccagcgggttcaacaatgacactgcaaaaaggcttctttttacaaaagaaaaag c.*1200
. . . . . . g.144553
gaaaaacaagtggtgatttttttttaataaaaaaaccacagactataaataaatgtaaat c.*1260
. . . . . . g.144613
acaaaataagtggatttacttgcaagaaaatcagatagtatttttcttttaattcttttc c.*1320
. . . . . . g.144673
cagctttaaactgtgaaaacaaaaaatggggcggggtgggggacttaaactttagcaggg c.*1380
. . . . . . g.144733
aacttgtaaagaaaaaaaaaacagaaaacgaatatacaaatccatttacaaaaacaaagc c.*1440
. . . . . . g.144793
aaaaccgttgtgagaggtgagagctgggcttgaaggttggagggagtagcggaaggtccc c.*1500
. . . . . . g.144853
agtgagctgcagggggtctctgtgatggaaaggtggcttcctcagacaaggaaggtgctg c.*1560
. . . . . . g.144913
cgaatgggggaagacagaatccaacaaagaaagagaccacacaccccacacgcacacagg c.*1620
. . . . . . g.144973
cacgttcacacacacatacacagtccacttagcccagcactgcagtcactcacagggaca c.*1680
. . . . . . g.145033
cactcagtctcaacccttccatcccatacacggccaggggcgtggctcaaaggaaattga c.*1740
. . . . . . g.145093
ctcatgccctccaaagccatggacgacaacaactccacactggcctttgtgttcattcac c.*1800
. . . . . . g.145153
aacctcccaacagagcatacacatgaacacacacatgcacacatacccacacacgcacac c.*1860
. . . . . . g.145213
atacccacacacacacacacaccactcgcatgcatgggaagggcacccgtctagaatcca c.*1920
. . . . . . g.145273
ggactggattccggaattccttgctgcatggcctctctgggccttaattttccccccatg c.*1980
. . . . . . g.145333
taagcatgtggattgacccagagaagcactaaaggcccattcttgctctatgtatctgtg c.*2040
. . . . . . g.145393
acttaagatctgccacctgccccgaggatatgccagggatgaccaggacagctgccacca c.*2100
. . . . . . g.145453
agcccccaggctcatcatcagtcagcctctcagacacacacacacacacacaccatatac c.*2160
. . . . . . g.145513
ctcctcactgtgctccccgaacacctgcccccacatccaatgtcaaagcaaaaatacaca c.*2220
. . . . . . g.145573
catgtgagcaaacataaagctgttcaggcaaagaggggaaagacgcaggggtccccaaag c.*2280
. . . . . . g.145633
cccttcttcactttgtgtccccttgctgcgatcatggagagttaaagaggcttccttggg c.*2340
. . . . . . g.145693
agaagagctctgccaccagggcttccccagtgtctttgggggtctgtgaaaaagaggatc c.*2400
. . . . . . g.145753
ctctgaggtttactgggagggctcaaggctgagggaatggagaggaaaattttagcagtt c.*2460
. . . . . . g.145813
ccatcccagtgtaaggaccaaccccaaaagttaaacttgcaccacagactaaaggtcaag c.*2520
. . . . . . g.145873
ggcatcctgtgtttctcccctttcttccccagagtgacaagggccagttcagactgacag c.*2580
. . . . . . g.145933
aaatccaacagctttcctgagctggaaatttcagaacagtctgcaagttactcccaggtg c.*2640
. . . . . . g.145993
actgaaggtcaaggtgaggcccccctgcctctgcctgcgagtctcccccggtttgcattt c.*2700
. . . . . . g.146053
ttcttgacaccggcatttcctgaggttgagctctctggggagttctagagaatggctagt c.*2760
. . . . . . g.146113
aaggctttttgagcttgcacatctcacctgcctttcctgtcttttgcctgggaaaggaaa c.*2820
. . . . . . g.146173
gttattttcccaggtcagcaaggggcagaacatcggccagcccagcccagaagtacaggg c.*2880
. . . . . . g.146233
ggaggtcatgggccctggggcagaacaatgggagacaattcaaggtgtggtaacaacaac c.*2940
. . . . . . g.146293
caagttgccctcagtctgggcagaaactgaactctacccctctcccaccccaatcttgcc c.*3000
. . . . . . g.146353
cgccatcccaccagattccagacctaaagggatcaaggatgagagcgaagggagaaggga c.*3060
. . . . . . g.146413
gggtccccaagaaaaccgcacccaagcgagcactgtctgaagagaaaaactagctccagt c.*3120
. . . . . . g.146473
tctccgaattctggcagagcgtctgggaaggcgatcagtgcttctttccatggcgcaagg c.*3180
. . . . . . g.146533
cctgggttctgggtgtgcttgaagaaagccactggggtgtggggtgacatcgccatggct c.*3240
. . . . . . g.146593
gagaaggggctagggggtccggagggaaggagccaggaccggaactgcaagggcgttgct c.*3300
. . . . . . g.146653
gcccaggggtgtggatgattgctcatgtccagctcagaccagttcaagaaactaacctcc c.*3360
. . . . . . g.146713
atttattttcttggtgagtcctttttttttttttcagactgttaacagaaaaaaaatttt c.*3420
. . . . . . g.146773
aaaaagcagaaaactgaaaaaaaaaatcctggtacatgaaataaagatttttttttttta c.*3480
g.146775
ta c.*3482
(downstream sequence)
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