(used for variant description)
(last modified May 30, 2022)
This file was created to facilitate the description of sequence variants on transcript NM_006160.3 in the NEUROD2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000017.10, covering NEUROD2 transcript NM_006160.3.
(upstream sequence)
. . g.5020
gtagagatgccacactcgct c.-181
. . . . . . g.5080
ccgcggttcgcatggcgctctgaagacgccggcgcccgccgccttgaggagccgctgccc c.-121
. . . . . . g.5140
ccgctccctgaagatgggggaacaatgaaataagcgagaagatccctcttctcccccctc c.-61
. . . . . . | 02 g.6323
tctctcttgccccctccccccctcccctcccctctccccttgactcctctccgag | gcacc c.-1
. . . . . . g.6383
ATGCTGACCCGCCTGTTCAGCGAGCCCGGCCTTCTCTCGGACGTGCCCAAGTTCGCCAGC c.60
M L T R L F S E P G L L S D V P K F A S p.20
. . . . . . g.6443
TGGGGCGACGGCGAAGACGACGAGCCGAGGAGCGACAAGGGCGACGCGCCGCCACCGCCA c.120
W G D G E D D E P R S D K G D A P P P P p.40
. . . . . . g.6503
CCGCCTGCGCCCGGGCCAGGGGCTCCGGGGCCAGCCCGGGCGGCCAAGCCAGTCCCTCTC c.180
P P A P G P G A P G P A R A A K P V P L p.60
. . . . . . g.6563
CGTGGAGAAGAGGGGACGGAGGCCACGTTGGCCGAGGTCAAGGAGGAAGGCGAGCTGGGG c.240
R G E E G T E A T L A E V K E E G E L G p.80
. . . . . . g.6623
GGAGAGGAGGAGGAGGAAGAGGAGGAGGAAGAAGGACTGGACGAGGCGGAGGGCGAGCGG c.300
G E E E E E E E E E E G L D E A E G E R p.100
. . . . . . g.6683
CCCAAGAAGCGCGGGCCCAAGAAGCGCAAGATGACCAAGGCGCGCTTGGAGCGCTCCAAG c.360
P K K R G P K K R K M T K A R L E R S K p.120
. . . . . . g.6743
CTTCGGCGGCAGAAGGCGAACGCGCGGGAGCGCAACCGCATGCACGACCTGAACGCAGCC c.420
L R R Q K A N A R E R N R M H D L N A A p.140
. . . . . . g.6803
CTGGACAACCTGCGCAAGGTGGTGCCCTGCTACTCCAAGACGCAGAAGCTGTCCAAGATC c.480
L D N L R K V V P C Y S K T Q K L S K I p.160
. . . . . . g.6863
GAGACGCTGCGCCTAGCCAAGAACTATATCTGGGCGCTCTCGGAGATCCTGCGCTCCGGC c.540
E T L R L A K N Y I W A L S E I L R S G p.180
. . . . . . g.6923
AAGCGGCCAGACCTAGTGTCCTACGTGCAGACTCTGTGCAAGGGTCTGTCGCAGCCCACC c.600
K R P D L V S Y V Q T L C K G L S Q P T p.200
. . . . . . g.6983
ACCAATCTGGTGGCCGGCTGTCTGCAGCTCAACTCTCGCAACTTCCTCACGGAGCAAGGC c.660
T N L V A G C L Q L N S R N F L T E Q G p.220
. . . . . . g.7043
GCCGACGGTGCCGGCCGCTTCCACGGCTCGGGCGGCCCGTTCGCCATGCACCCCTACCCG c.720
A D G A G R F H G S G G P F A M H P Y P p.240
. . . . . . g.7103
TACCCGTGCTCGCGCCTGGCGGGCGCACAGTGCCAGGCGGCCGGCGGCCTGGGCGGCGGC c.780
Y P C S R L A G A Q C Q A A G G L G G G p.260
. . . . . . g.7163
GCGGCGCACGCCCTGCGGACCCACGGCTACTGCGCCGCCTACGAGACGCTGTATGCGGCG c.840
A A H A L R T H G Y C A A Y E T L Y A A p.280
. . . . . . g.7223
GCAGGCGGTGGCGGCGCGAGCCCGGACTACAACAGCTCCGAGTACGAGGGCCCGCTCAGC c.900
A G G G G A S P D Y N S S E Y E G P L S p.300
. . . . . . g.7283
CCCCCGCTCTGTCTCAATGGCAACTTCTCACTCAAGCAGGACTCCTCGCCCGACCACGAG c.960
P P L C L N G N F S L K Q D S S P D H E p.320
. . . . . . g.7343
AAAAGCTACCACTACTCTATGCACTACTCGGCGCTGCCCGGTTCGCGGCCCACGGGCCAC c.1020
K S Y H Y S M H Y S A L P G S R P T G H p.340
. . . . . . g.7403
GGGCTAGTCTTCGGCTCGTCGGCTGTGCGCGGGGGCGTCCACTCGGAGAATCTCTTGTCT c.1080
G L V F G S S A V R G G V H S E N L L S p.360
. . . . . . g.7463
TACGATATGCACCTTCACCACGACCGGGGCCCCATGTACGAGGAGCTCAATGCGTTTTTT c.1140
Y D M H L H H D R G P M Y E E L N A F F p.380
g.7472
CATAACTGA c.1149
H N X p.382
. . . . . . g.7532
gacttcgcgccggctcccttctttttcttttgcctttgcccgcccccctgtccccagccc c.*60
. . . . . . g.7592
ccagagcgcagggacacccccatcctaccccggcgccgggcgcggggagcgggccaccgg c.*120
. . . . . . g.7652
tcctgccgctctcctggggcagcgcagtcctgttacctgtgggtggcctgtcccaggggc c.*180
. . . . . . g.7712
ctcgcttcccccaggggactcgccttctctctccccaaggggttccctcctcctctctcc c.*240
. . . . . . g.7772
caaggagtgcttctccagggacctctctccgggggctccctggaggcacccctcccccat c.*300
. . . . . . g.7832
tcccaatatcttcgctgaggtttcctcctccccctcctccctgcaggcccaaggcgttgg c.*360
. . . . . . g.7892
taagggggcagctgagcaatggaacgcgtttccccctctcattattattttaaaaacaga c.*420
. . . . . . g.7952
cacccagctgccgaggcaaaaaggagccaggcgctccctctttcttgaagagggtagaag c.*480
. . . . . . g.8012
ttagggcgccggagcccgggcctggaacgccctcacccccaacctccagtctccgcgttt c.*540
. . . . . . g.8072
tgcgattttaattttggcgggaggggaagtggattgagaggaaagagagaggccaagaca c.*600
. . . . . . g.8132
atttgtaactagaatccgtttttcccttttcctttttttaaacaaacaaacatacaaaaa c.*660
. . . . . . g.8192
aaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaagctaagaggcgacggaagccgaacg c.*720
. . . . . . g.8252
cagagtccggatcggagagaaaacgcagtaaggacttttagaagcaataaaaggcaaaaa c.*780
. . . . . . g.8312
aaacaaaaaacaaaaaaacaaacaaaaaaaaaccactactaccaataatcaaagacacaa c.*840
. . . . . . g.8372
atatctatgcaaggaggctccactgagcctcgcggcccggcccggccccgggatgccccg c.*900
. . . . . . g.8432
cccggcctgcgggccgccccgcccgagcgcggatctgtgcactttggtgaagtgggggcc c.*960
. . . . . . g.8492
cgcgccgccccctccccctccccaggttcttacaatcagtgactcggagatttggggccc c.*1020
. . . . . . g.8552
cagtgccactgccctcccccgccccgtccccgttgtgcgtcatgctgttttttaaaaacc c.*1080
. . . . . . g.8612
tgtttccaaatttgtatggaatggcaaactgttggggggtcggtttggggagggagggtt c.*1140
. . . . . . g.8672
tgcatgaaagacacacgcacaccacaccgcacgcacaagcaggcccggcgccggcgtccg c.*1200
. . . . . . g.8732
gggggcagaaggaggtgagctcgccggctcctcctccccgcggccattctgtcccctcct c.*1260
. . . . . . g.8792
ggggtgaggggtggggatggagacctgggggcagccccacccctgcccggactgtgcctc c.*1320
. . . . . . g.8852
ggtgggtgccacctggcgatttccggtgtctggagagagtattttttggtccaaggagtc c.*1380
. . . . . . g.8912
ctcttggctttagctggtgggtgggcggggagaggtctgagggctcctactggaggttcc c.*1440
. . . . . . g.8972
cccaaaaaggggcaaaaggagaccctctgcccaccggaggcaggggatcaggcatccaaa c.*1500
. . . . . . g.9032
tacacgatgcaaaaatgcaatcccacaggcgacacacccacacactcacccacacacacg c.*1560
. . . . . . g.9092
caattttaccttcctcttgtagcgaagatgaaactcccgtcggacacccgaagtgcattg c.*1620
. . . . . . g.9152
cgtgtttctgttcagtttaatgacgattaataaatatttatgtaaatgagatgcaaagcc c.*1680
g.9155
gga c.*1683
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 27
©2004-2022 Leiden University Medical Center