(used for variant description)
(last modified October 21, 2022)
This file was created to facilitate the description of sequence variants on transcript NM_004974.3 in the KCNA2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000001.10, covering KCNA2 transcript NM_004974.3.
(upstream sequence)
. . g.30142
gtgctccctgccgaggagatg c.-601
. . . . . . g.30202
tgagggattttctcttgggggagaaatcagtggtcgagcgcctgcccagctcaaatgcca c.-541
. . . . . | 02 . g.30767
cccggctcagagggaggcctgcggcccagggatcccggagggaga | gcaacgtcacacctc c.-481
. . . . . . g.30827
ctgaggacagccaggactccagcttttgctgagctttgcatcttgcctccttccttcaaa c.-421
. . . . . . g.30887
aggctccaggcccatgctcggctgtcttcaagtcccgcatgcccctggccaggcacctca c.-361
. . . . . . g.30947
ccgcccctccagcccagcccaatcctagagctcacctccaggacccagagtctgcccttc c.-301
. . . . . . g.31007
tgcccagaatgactcaccattatttctagctcgagtgagaagacgtgatgaggagttggg c.-241
. . . . . . g.31067
ctgcctgttggtgcatctcagattcctgcagcatctgatcagctctgcaaggaagagagc c.-181
. . | 03 . . . . g.31572
ttcacgtctctggtcag | ccaagcgaggctgtctctccagctctcagagagctctcggggc c.-121
. . . . . . g.31632
tctcctgcaggagaccaggccaatgctcctgtgcttcctggggccagtagcagcaccctg c.-61
. . . . . . g.31692
agctccctgccaccaggcagctgaaaggcatagcgtgaggtgcttctctcagtcccaatt c.-1
. . . . . . g.31752
ATGACAGTGGCCACCGGAGACCCAGCAGACGAGGCTGCTGCCCTCCCTGGGCACCCACAG c.60
M T V A T G D P A D E A A A L P G H P Q p.20
. . . . . . g.31812
GACACCTATGACCCAGAGGCAGACCACGAGTGCTGTGAGAGGGTGGTGATCAACATCTCA c.120
D T Y D P E A D H E C C E R V V I N I S p.40
. . . . . . g.31872
GGGCTGCGGTTTGAGACCCAGCTAAAGACCTTAGCCCAGTTTCCAGAGACCCTCTTAGGG c.180
G L R F E T Q L K T L A Q F P E T L L G p.60
. . . . . . g.31932
GACCCAAAGAAACGAATGAGGTACTTTGACCCCCTCCGAAATGAGTACTTTTTCGATCGG c.240
D P K K R M R Y F D P L R N E Y F F D R p.80
. . . . . . g.31992
AACCGCCCTAGCTTTGATGCCATTTTGTACTACTACCAGTCAGGGGGCCGATTGAGGCGA c.300
N R P S F D A I L Y Y Y Q S G G R L R R p.100
. . . . . . g.32052
CCTGTGAATGTGCCCTTAGATATATTCTCTGAAGAAATTCGGTTTTATGAGCTGGGAGAA c.360
P V N V P L D I F S E E I R F Y E L G E p.120
. . . . . . g.32112
GAAGCGATGGAGATGTTTCGGGAAGATGAAGGCTACATCAAGGAGGAAGAGCGTCCTCTG c.420
E A M E M F R E D E G Y I K E E E R P L p.140
. . . . . . g.32172
CCTGAAAATGAGTTTCAGAGACAAGTGTGGCTTCTCTTTGAATACCCAGAGAGCTCAGGG c.480
P E N E F Q R Q V W L L F E Y P E S S G p.160
. . . . . . g.32232
CCTGCCAGGATTATAGCTATTGTGTCTGTCATGGTGATTCTGATCTCAATTGTCAGCTTC c.540
P A R I I A I V S V M V I L I S I V S F p.180
. . . . . . g.32292
TGTCTGGAAACATTGCCCATCTTCCGGGATGAGAATGAAGACATGCATGGTAGTGGGGTG c.600
C L E T L P I F R D E N E D M H G S G V p.200
. . . . . . g.32352
ACCTTCCACACCTATTCCAACAGCACCATCGGGTACCAGCAGTCCACTTCCTTCACAGAC c.660
T F H T Y S N S T I G Y Q Q S T S F T D p.220
. . . . . . g.32412
CCTTTCTTCATTGTAGAGACACTCTGCATCATCTGGTTCTCCTTTGAATTCTTGGTGAGG c.720
P F F I V E T L C I I W F S F E F L V R p.240
. . . . . . g.32472
TTCTTTGCCTGTCCCAGCAAAGCCGGCTTCTTCACCAACATCATGAACATCATTGACATT c.780
F F A C P S K A G F F T N I M N I I D I p.260
. . . . . . g.32532
GTGGCCATCATCCCCTACTTCATCACCCTGGGGACAGAGTTGGCTGAGAAGCCAGAGGAC c.840
V A I I P Y F I T L G T E L A E K P E D p.280
. . . . . . g.32592
GCTCAGCAAGGCCAGCAGGCCATGTCACTGGCCATCCTCCGTGTCATCCGGTTGGTAAGA c.900
A Q Q G Q Q A M S L A I L R V I R L V R p.300
. . . . . . g.32652
GTCTTTAGGATTTTCAAGTTGTCCAGACACTCCAAAGGTCTCCAGATTCTAGGTCAGACC c.960
V F R I F K L S R H S K G L Q I L G Q T p.320
. . . . . . g.32712
CTCAAAGCCAGCATGAGAGAATTGGGCCTCCTGATATTCTTTCTCTTCATAGGGGTCATC c.1020
L K A S M R E L G L L I F F L F I G V I p.340
. . . . . . g.32772
CTTTTCTCTAGTGCTGTGTATTTTGCAGAGGCCGATGAGCGAGAGTCCCAGTTCCCCAGC c.1080
L F S S A V Y F A E A D E R E S Q F P S p.360
. . . . . . g.32832
ATCCCAGATGCCTTCTGGTGGGCAGTCGTCTCCATGACAACTGTAGGCTATGGAGACATG c.1140
I P D A F W W A V V S M T T V G Y G D M p.380
. . . . . . g.32892
GTTCCGACTACCATTGGGGGAAAGATAGTGGGTTCCCTATGTGCGATTGCAGGTGTGTTA c.1200
V P T T I G G K I V G S L C A I A G V L p.400
. . . . . . g.32952
ACTATTGCCTTACCGGTCCCTGTCATTGTGTCCAATTTCAACTACTTCTACCACCGGGAG c.1260
T I A L P V P V I V S N F N Y F Y H R E p.420
. . . . . . g.33012
ACAGAGGGAGAGGAACAGGCCCAATACTTGCAAGTGACAAGCTGTCCAAAGATCCCATCC c.1320
T E G E E Q A Q Y L Q V T S C P K I P S p.440
. . . . . . g.33072
TCCCCTGACCTAAAGAAAAGTAGAAGTGCCTCTACCATTAGTAAGTCTGATTACATGGAG c.1380
S P D L K K S R S A S T I S K S D Y M E p.460
. . . . . . g.33132
ATCCAGGAGGGTGTAAATAACAGTAATGAGGACTTTAGAGAGGAAAACTTGAAAACAGCC c.1440
I Q E G V N N S N E D F R E E N L K T A p.480
. . . . . . g.33192
AACTGTACCTTGGCTAACACAAACTATGTGAATATTACCAAAATGTTAACTGATGTCTGA c.1500
N C T L A N T N Y V N I T K M L T D V X p.499
. . . . . . g.33252
ttgaaacctattaccgtactcacagctcaatggaactaatgcagatgttgcataatagcc c.*60
. . . . . . g.33312
tgcattgtagtcagtgtgttctacagtgtgtatctggttctgcatggaaagcaatagttg c.*120
g.33321
tgcaagtga c.*129
(downstream sequence)
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