(used for variant description)
(last modified September 4, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_133497.3 in the KCNV2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_012181.1, covering KCNV2 transcript NM_133497.3.
(upstream sequence)
. . . g.5034
gactgcgttcagaccctgcaggctgggctggcct c.-181
. . . . . . g.5094
gcccaggacctgagaaggggcagctccggtggcaatgtctgagcccctagctgtgctggt c.-121
. . . . . . g.5154
ccgggctggcctctctaagacagtgcaggccacgtgatccatcctcctagaggcagtgag c.-61
. . . . . . g.5214
caggtgagggacccctaccacagccaggaggaaaaagctaggcgtccactttccgcagcc c.-1
. . . . . . g.5274
ATGCTCAAACAGAGTGAGAGGAGACGGTCCTGGAGCTACAGGCCCTGGAACACGACGGAG c.60
M L K Q S E R R R S W S Y R P W N T T E p.20
. . . . . . g.5334
AATGAGGGCAGCCAACACCGCAGGAGCATTTGCTCCCTGGGTGCCCGTTCCGGCTCCCAG c.120
N E G S Q H R R S I C S L G A R S G S Q p.40
. . . . . . g.5394
GCCAGCATCCACGGCTGGACAGAGGGCAACTATAACTACTACATCGAGGAAGACGAAGAC c.180
A S I H G W T E G N Y N Y Y I E E D E D p.60
. . . . . . g.5454
GGCGAGGAGGAGGACCAGTGGAAGGACGACCTGGCAGAAGAGGACCAGCAGGCAGGGGAG c.240
G E E E D Q W K D D L A E E D Q Q A G E p.80
. . . . . . g.5514
GTCACCACCGCCAAGCCCGAGGGCCCCAGCGACCCTCCGGCCCTGCTGTCCACGCTGAAT c.300
V T T A K P E G P S D P P A L L S T L N p.100
. . . . . . g.5574
GTGAACGTGGGTGGCCACAGCTACCAGCTGGACTACTGCGAGCTGGCCGGCTTCCCCAAG c.360
V N V G G H S Y Q L D Y C E L A G F P K p.120
. . . . . . g.5634
ACGCGCCTAGGTCGCCTGGCCACCTCCACCAGCCGCAGCCGCCAGCTAAGCCTGTGCGAC c.420
T R L G R L A T S T S R S R Q L S L C D p.140
. . . . . . g.5694
GACTACGAGGAGCAGACAGACGAATACTTCTTCGACCGCGACCCGGCCGTCTTCCAGCTG c.480
D Y E E Q T D E Y F F D R D P A V F Q L p.160
. . . . . . g.5754
GTCTACAATTTCTACCTGTCCGGGGTGCTGCTGGTGCTCGACGGGCTGTGTCCGCGCCGC c.540
V Y N F Y L S G V L L V L D G L C P R R p.180
. . . . . . g.5814
TTCCTGGAGGAGCTGGGCTACTGGGGCGTGCGGCTCAAGTACACGCCACGCTGCTGCCGC c.600
F L E E L G Y W G V R L K Y T P R C C R p.200
. . . . . . g.5874
ATCTGCTTCGAGGAGCGGCGCGACGAGCTGAGCGAACGGCTCAAGATCCAGCACGAGCTG c.660
I C F E E R R D E L S E R L K I Q H E L p.220
. . . . . . g.5934
CGCGCGCAGGCGCAGGTCGAGGAGGCGGAGGAACTCTTCCGCGACATGCGCTTCTACGGC c.720
R A Q A Q V E E A E E L F R D M R F Y G p.240
. . . . . . g.5994
CCGCAGCGGCGCCGCCTCTGGAACCTCATGGAGAAGCCATTCTCCTCGGTGGCCGCCAAG c.780
P Q R R R L W N L M E K P F S S V A A K p.260
. . . . . . g.6054
GCCATCGGGGTGGCCTCCAGCACCTTCGTGCTCGTCTCCGTGGTGGCGCTGGCGCTCAAC c.840
A I G V A S S T F V L V S V V A L A L N p.280
. . . . . . g.6114
ACCGTGGAGGAGATGCAGCAGCACTCGGGGCAGGGCGAGGGCGGCCCAGACCTGCGGCCC c.900
T V E E M Q Q H S G Q G E G G P D L R P p.300
. . . . . . g.6174
ATCCTGGAGCACGTGGAGATGCTGTGCATGGGCTTCTTCACGCTCGAGTACCTGCTGCGC c.960
I L E H V E M L C M G F F T L E Y L L R p.320
. . . . . . g.6234
CTAGCCTCCACGCCCGACCTGAGGCGCTTCGCGCGCAGCGCCCTCAACCTGGTGGACCTG c.1020
L A S T P D L R R F A R S A L N L V D L p.340
. . . . . . g.6294
GTGGCCATCCTGCCGCTCTACCTTCAGCTGCTGCTCGAGTGCTTCACGGGCGAGGGCCAC c.1080
V A I L P L Y L Q L L L E C F T G E G H p.360
. . . . . . g.6354
CAACGCGGCCAGACGGTGGGCAGCGTGGGTAAGGTGGGTCAGGTGTTGCGCGTCATGCGC c.1140
Q R G Q T V G S V G K V G Q V L R V M R p.380
. . . . . . g.6414
CTCATGCGCATCTTCCGCATCCTCAAGCTGGCGCGCCACTCCACCGGACTGCGTGCCTTC c.1200
L M R I F R I L K L A R H S T G L R A F p.400
. . . . . . g.6474
GGCTTCACGCTGCGCCAGTGCTACCAGCAGGTGGGCTGCCTGCTGCTCTTCATCGCCATG c.1260
G F T L R Q C Y Q Q V G C L L L F I A M p.420
. . . . . . g.6534
GGCATCTTCACTTTCTCTGCGGCTGTCTACTCTGTGGAGCACGATGTGCCCAGCACCAAC c.1320
G I F T F S A A V Y S V E H D V P S T N p.440
. . . | 02 . . . g.16944
TTCACTACCATCCCCCACTCCTGGTGGTGGGCCGCG | GTGAGCATCTCCACCGTGGGCTAC c.1380
F T T I P H S W W W A A | V S I S T V G Y p.460
. . . . . . g.17004
GGAGACATGTACCCAGAGACCCACCTGGGCAGGTTTTTTGCCTTCCTCTGCATTGCTTTT c.1440
G D M Y P E T H L G R F F A F L C I A F p.480
. . . . . . g.17064
GGGATCATTCTCAACGGGATGCCCATTTCCATCCTCTACAACAAGTTTTCTGATTACTAC c.1500
G I I L N G M P I S I L Y N K F S D Y Y p.500
. . . . . . g.17124
AGCAAGCTGAAGGCTTATGAGTATACCACCATACGCAGGGAGAGGGGAGAGGTGAACTTC c.1560
S K L K A Y E Y T T I R R E R G E V N F p.520
. . . . . . g.17184
ATGCAGAGAGCCAGAAAGAAGATAGCTGAGTGTTTGCTTGGAAGCAACCCACAGCTCACC c.1620
M Q R A R K K I A E C L L G S N P Q L T p.540
. g.17202
CCAAGACAAGAGAATTAG c.1638
P R Q E N X p.545
. . . . . . g.17262
tattttataggacatgtggctggtagattccatgaacttcaaggcttcattgctcttttt c.*60
. . . . . . g.17322
ttaatcattatgattggcagcaaaaggaaatgtgaagcagacatacacaaaggccatttc c.*120
. . . . . . g.17382
gttcacaaagtactgcctctagaaatactcattttggcccaaactcagaatgtctcatag c.*180
. . . . . . g.17442
ttgctctgtgttgtgtgaaacatctgaccttctcaatgacgttgatattgaaaacctgag c.*240
. . . . . . g.17502
gggagcaacagcttagatttttcttgtagcttctcgtggcatctagctcaataaatattt c.*300
. g.17512
ttggacttga c.*310
(downstream sequence)
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