(used for variant description)
(last modified December 4, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_153748.2 in the KCNC2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000012.11, covering KCNC2 transcript NM_153748.2.
(upstream sequence)
. . g.5021
actctttcctgagccctgtgc c.-541
. . . . . . g.5081
ttcggatggcggcgggaggttgatggcgagtggtgctgaagggacagctccagcagtggc c.-481
. . . . . . g.5141
tgatttgggggagaaacaaaatctgcagatggaatccgagcagggcgacttcaccttcaa c.-421
. . . . . . g.5201
gtggtgagctctcctgacctgcggccagtctccactccattcacggccagccgatctgcc c.-361
. . . . . . g.5261
cgctcccggaggggtcgggcagtgccggctggacccgccccgagctccatggtttgccca c.-301
. . . . . . g.5321
accctgcgcgatggtgactctgggcgcggaggttggcgactggcaaatccgcagatcaca c.-241
. . . . . . g.5381
gaatgaaggcggggagcgcggccggcggccggcgggggctttctcccccaccccagcgcc c.-181
. . . . . . g.5441
cagggaagcggctcaaccacctgaatccggaaaacgccaacaagtagtttctcgtcggag c.-121
. . . . . . g.5501
aagggcggctcacctgggcgccaagactcagtcccgctgcccagagaacctcgtccactc c.-61
. . . . . | 02 . g.6765
ggaaaccaaagcagaaccacttttctctcggtctcgttaag | tcatgtctgagtcacagag c.-1
. . . . . . g.6825
ATGGGCAAGATCGAGAACAACGAGAGGGTGATCCTCAATGTCGGGGGCACCCGGCACGAA c.60
M G K I E N N E R V I L N V G G T R H E p.20
. . . . . . g.6885
ACCTACCGCAGCACCCTCAAGACCCTGCCTGGAACACGCCTGGCCCTTCTTGCCTCCTCC c.120
T Y R S T L K T L P G T R L A L L A S S p.40
. . . . . . g.6945
GAGCCCCCAGGCGACTGCTTGACCACGGCGGGCGACAAGCTGCAGCCGTCGCCGCCTCCA c.180
E P P G D C L T T A G D K L Q P S P P P p.60
. . . . . . g.7005
CTGTCGCCGCCGCCGAGAGCGCCCCCGCTGTCCCCCGGGCCAGGCGGCTGCTTCGAGGGC c.240
L S P P P R A P P L S P G P G G C F E G p.80
. . . . . . g.7065
GGCGCGGGCAACTGCAGTTCCCGCGGCGGCAGGGCCAGCGACCATCCCGGTGGCGGCCGC c.300
G A G N C S S R G G R A S D H P G G G R p.100
. . . . . . g.7125
GAGTTCTTCTTCGACCGGCACCCGGGCGTCTTCGCCTATGTGCTCAATTACTACCGCACC c.360
E F F F D R H P G V F A Y V L N Y Y R T p.120
. . . . . . g.7185
GGCAAGCTGCACTGCCCCGCAGACGTGTGCGGGCCGCTCTTCGAGGAGGAGCTGGCCTTC c.420
G K L H C P A D V C G P L F E E E L A F p.140
. . . . . . g.7245
TGGGGCATCGACGAGACCGACGTGGAGCCCTGCTGCTGGATGACCTACCGGCAGCACCGC c.480
W G I D E T D V E P C C W M T Y R Q H R p.160
. . . . . . g.7305
GACGCCGAGGAGGCGCTGGACATCTTCGAGACCCCCGACCTCATTGGCGGCGACCCCGGC c.540
D A E E A L D I F E T P D L I G G D P G p.180
. . . . . . g.7365
GACGACGAGGACCTGGCGGCCAAGAGGCTGGGCATCGAGGACGCGGCGGGGCTCGGGGGC c.600
D D E D L A A K R L G I E D A A G L G G p.200
. . . . . . g.7425
CCCGACGGCAAATCTGGCCGCTGGAGGAGGCTGCAGCCCCGCATGTGGGCCCTCTTCGAA c.660
P D G K S G R W R R L Q P R M W A L F E p.220
. . | 03. . . . g.163464
GACCCCTACTCGTCCAGAGCCGCCAGG | TTTATTGCTTTTGCTTCTTTATTCTTCATCCTG c.720
D P Y S S R A A R | F I A F A S L F F I L p.240
. . . . . . g.163524
GTTTCAATTACAACTTTTTGCCTGGAAACACATGAAGCTTTCAATATTGTTAAAAACAAG c.780
V S I T T F C L E T H E A F N I V K N K p.260
. . . . . . g.163584
ACAGAACCAGTCATCAATGGCACAAGTGTTGTTCTACAGTATGAAATTGAAACGGATCCT c.840
T E P V I N G T S V V L Q Y E I E T D P p.280
. . . . . . g.163644
GCCTTGACGTATGTAGAAGGAGTGTGTGTGGTGTGGTTTACTTTTGAATTTTTAGTCCGT c.900
A L T Y V E G V C V V W F T F E F L V R p.300
. . . . . . g.163704
ATTGTTTTTTCACCCAATAAACTTGAATTCATCAAAAATCTCTTGAATATCATTGACTTT c.960
I V F S P N K L E F I K N L L N I I D F p.320
. . . . . . g.163764
GTGGCCATCCTACCTTTCTACTTAGAGGTGGGACTCAGTGGGCTGTCATCCAAAGCTGCT c.1020
V A I L P F Y L E V G L S G L S S K A A p.340
. . . . . . g.163824
AAAGATGTGCTTGGCTTCCTCAGGGTGGTAAGGTTTGTGAGGATCCTGAGAATTTTCAAG c.1080
K D V L G F L R V V R F V R I L R I F K p.360
. . . . . . g.163884
CTCACCCGCCATTTTGTAGGTCTGAGGGTGCTTGGACATACTCTTCGAGCTAGTACTAAT c.1140
L T R H F V G L R V L G H T L R A S T N p.380
. . . . . . g.163944
GAATTTTTGCTGCTGATAATTTTCCTGGCTCTAGGAGTTTTGATATTTGCTACCATGATC c.1200
E F L L L I I F L A L G V L I F A T M I p.400
. . . . . . g.164004
TACTATGCCGAGAGAGTGGGAGCTCAACCTAACGACCCTTCAGCTAGTGAGCACACACAG c.1260
Y Y A E R V G A Q P N D P S A S E H T Q p.420
. . . . . . g.164064
TTCAAAAACATTCCCATTGGGTTCTGGTGGGCTGTAGTGACCATGACTACCCTGGGTTAT c.1320
F K N I P I G F W W A V V T M T T L G Y p.440
. . . . . . g.164124
GGGGATATGTACCCCCAAACATGGTCAGGCATGCTGGTGGGAGCCCTGTGTGCTCTGGCT c.1380
G D M Y P Q T W S G M L V G A L C A L A p.460
. . . . . . g.164184
GGAGTGCTGACAATAGCCATGCCAGTGCCTGTCATTGTCAATAATTTTGGAATGTACTAC c.1440
G V L T I A M P V P V I V N N F G M Y Y p.480
. . . . . . g.164244
TCCTTGGCAATGGCAAAGCAGAAACTTCCAAGGAAAAGAAAGAAGCACATCCCTCCTGCT c.1500
S L A M A K Q K L P R K R K K H I P P A p.500
. . . . . . g.164304
CCTCAGGCAAGCTCACCTACTTTTTGCAAGACAGAATTAAATATGGCCTGCAATAGTACA c.1560
P Q A S S P T F C K T E L N M A C N S T p.520
. . . . . | 04 . g.172379
CAGAGTGACACATGTCTGGGCAAAGACAATCGACTTCTGGAACATAACAGATCAG | ATAAC c.1620
Q S D T C L G K D N R L L E H N R S D | N p.540
. . . . . g.172436
TGCAAAGAGGTTGTCATTACTGGTTACACGCAAGCCGAGGCCAGATCTCTTACTTAA c.1677
C K E V V I T G Y T Q A E A R S L T X p.558
. . . | 05 . . . g.173569
tgacttggggaaggcacaaaacatgagagaaag | tgttgtacagaatttatcatggattat c.*60
. . . . . . g.173629
tgactgctgagaaagggacagtggaatttagccataccaaggactatactggaaacagac c.*120
. . . . . . g.173689
ttctgctgctgaatgtgccctgatgtgaccaggttgcacttggaagagatcctcgcgtct c.*180
. . . . . . g.173749
tcatgaggcacttaaagcttataaaagaactgcggctggaactcatctggtgctccccat c.*240
. . . . . . g.173809
gagagtgctctgcttgtagactggccagtgtccatgaaacaactgtaaataccaacatgt c.*300
. . . . . . g.173869
gtgcatgggtcaacagtcttggccatttctcatcaaaagaagccaaattcatgatcaaca c.*360
. . . . . . g.173929
tctctgaagtttcaagtaaggcccacacttctttgaattactcttcatgggcccacatta c.*420
. . . . . . g.173989
ggttgtgctgtgaattacttaaggcagtgatactgatgtagtatagttttgtcttaattt c.*480
. . . . . . g.174049
cccttatttctacttctttggttgaatctatgaacttgattgtataattttcttataaat c.*540
. . . . . . g.174109
tactgatgtaatcagcttgtcaattatgttgtgaaattgttagtattcatttatcaaaaa c.*600
. . . . . . g.174169
tgacctatgtttagtcacatatttgtttagttctgggaaattgttatagcttaaatggaa c.*660
. . . . . . g.174229
ctcaccaacattattcatagtttaagtcttttatcattattacctcaattataaatatta c.*720
. . . . . . g.174289
caaaaacataattctggcaatgagagtatttttttattcaatgatcaaggagcaatgtca c.*780
. . . . . . g.174349
gtatatagtagaatatcaattaaattatatcctaaaatgtatattttgcataaaagagat c.*840
. . . . . . g.174409
attctttaatcaattacttttttgtgagttttgtggcaaatgaagcttgtacgtgtcttt c.*900
. . . . . . g.174469
aaaactgttgtagatgaaactgtataagatttttacatcttgcttaatcaatattttcag c.*960
. . . . . . g.174529
agtctattagttcccctgggattctgaatataacatatagcctattataaatccctgtat c.*1020
. . . . . . g.174589
cgtggaccttttgtgaacatttcaaggcgcatgcacaaccttgatgataaccagtggaaa c.*1080
. . . . . . g.174649
tgtaactaactgaaatgaagaataaaaggcaaatgagctggggataaacttgaatgttat c.*1140
. . g.174671
ctgattaaattactcaaattat c.*1162
(downstream sequence)
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