(used for variant description)
(last modified March 2, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_030922.6 in the NIPA2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_021303.1, covering NIPA2 transcript NM_030922.6.
(upstream sequence)
. . . g.5032
gtcatttagccgcgcctaggttttccggcgcc c.-601
. . . . . . g.5092
ggccctaggtcccggcagcggtggtgacggcggtgccggaggttgtccttggcaggtttt c.-541
. . . . . . g.5152
cctcggcgcttctccatggaggaggcggtgcgaacggcttcagccccgaatgctcgcatc c.-481
. . . . . . g.5212
tcccactggacggcgacgaaggcggtggccgtgcgagcgcaggactgggcggcctgtgtg c.-421
. . . . . . g.5272
ggggtgtgagccgcggtgcccaaggctgcgccggcgaggggaagccgcgcggccggccgg c.-361
. | 02 . . . . g.6065
ccgactagg | gctggagctactcggccagggtttaagactttaaatgagaataaagggtgg c.-301
. . . . . . g.6125
tatttacgaggaaatgagagtgaataagtcatctctaacctctcccagcctttttttcat c.-241
. . . | 03 . . . g.11540
aagagagaccatattaaacttacat | gctctcccggctgtgatagaccttcagttacagag c.-181
. . . . . . g.11600
agagggagcagagtgggaccaggtctgagaatagtgaagcaactcattcctttcaggaca c.-121
. . . | 04 . . . g.18031
ttccctctgatgtcctattttcaaact | gtttgaagactgcttcattctgcctctagtacc c.-61
. . . . . . g.18091
agcggtttctctgttctgtgatcaatgtgattcacaggaactccttaagtaacaaacgaa c.-1
. . . . . . g.18151
ATGAGCCAGGGGCGTGGAAAATATGACTTCTATATTGGTCTGGGATTGGCTATGAGCTCC c.60
M S Q G R G K Y D F Y I G L G L A M S S p.20
. . . . . . g.18211
AGCATTTTCATTGGAGGAAGTTTCATTTTGAAAAAAAAGGGCCTCCTTCGACTTGCCAGG c.120
S I F I G G S F I L K K K G L L R L A R p.40
. | 05 . . . . g.19612
AAAGGCTCTATGAGAGCAG | GTCAAGGTGGCCATGCATATCTTAAGGAATGGTTGTGGTGG c.180
K G S M R A G | Q G G H A Y L K E W L W W p.60
. | 06 . . . . . g.24943
GCTGGACTGCTGTCAA | TGGGAGCTGGTGAGGTGGCCAACTTCGCTGCGTATGCGTTTGCA c.240
A G L L S M | G A G E V A N F A A Y A F A p.80
. . . . | 07. . g.27001
CCAGCCACTCTAGTGACTCCACTAGGAGCTCTCAGCGTGCTAGTAAG | TGCCATTCTTTCT c.300
P A T L V T P L G A L S V L V S | A I L S p.100
. . . . . . g.27061
TCATACTTTCTCAATGAAAGACTTAATCTTCATGGGAAAATTGGGTGTTTGCTAAGTATT c.360
S Y F L N E R L N L H G K I G C L L S I p.120
. . . . . . g.27121
CTAGGATCTACAGTTATGGTCATTCATGCTCCAAAGGAAGAGGAGATTGAGACTTTAAAT c.420
L G S T V M V I H A P K E E E I E T L N p.140
. . | 08 . . . g.32604
GAAATGTCTCACAAGCTAGGTGATCCAG | GTTTTGTGGTCTTTGCAACCCTTGTGGTCATT c.480
E M S H K L G D P G | F V V F A T L V V I p.160
. . . . . . g.32664
GTGGCCTTGATATTAATCTTCGTGGTGGGTCCTCGCCATGGACAGACAAACATTCTTGTG c.540
V A L I L I F V V G P R H G Q T N I L V p.180
. . . . . . g.32724
TACATAACAATCTGCTCTGTAATCGGCGCGTTTTCAGTCTCCTGTGTGAAGGGCCTGGGC c.600
Y I T I C S V I G A F S V S C V K G L G p.200
. . . . . . g.32784
ATTGCTATCAAGGAGCTGTTTGCAGGGAAGCCTGTGCTGCGGCATCCCCTGGCTTGGATT c.660
I A I K E L F A G K P V L R H P L A W I p.220
. . . . . . g.32844
CTGCTGCTGAGCCTCATCGTCTGTGTGAGCACACAGATTAATTACCTAAATAGGGCCCTG c.720
L L L S L I V C V S T Q I N Y L N R A L p.240
. . . . . . g.32904
GATATATTCAACACTTCCATTGTGACTCCAATATATTATGTATTCTTTACAACATCAGTT c.780
D I F N T S I V T P I Y Y V F F T T S V p.260
. . . . . . g.32964
TTAACTTGTTCAGCTATTCTTTTTAAGGAGTGGCAAGATATGCCTGTTGACGATGTCATT c.840
L T C S A I L F K E W Q D M P V D D V I p.280
. . . . . . g.33024
GGTACTTTGAGTGGCTTCTTTACAATCATTGTGGGGATATTCTTGTTGCATGCCTTTAAA c.900
G T L S G F F T I I V G I F L L H A F K p.300
. . . . . . g.33084
GACGTCAGCTTTAGTCTAGCAAGTCTGCCTGTGTCTTTTCGAAAAGACGAGAAAGCAATG c.960
D V S F S L A S L P V S F R K D E K A M p.320
. . . . . . g.33144
AATGGCAATCTCTCTAATATGTATGAAGTTCTTAATAATAATGAAGAAAGCTTAACCTGT c.1020
N G N L S N M Y E V L N N N E E S L T C p.340
. . . . . . g.33204
GGAATCGAACAACACACTGGTGAAAATGTCTCCCGAAGAAATGGAAATCTGACAGCTTTT c.1080
G I E Q H T G E N V S R R N G N L T A F p.360
g.33207
TAA c.1083
X p.360
. . . . . . g.33267
gaaaggtgtaattaaaggttaatctgtgattgttatgaagtgaatttgaatatcatcaga c.*60
. . . . . . g.33327
atgtgtctgaaaaaacattgtcctcaaataatgttctttaaaggcaatctttttaaagat c.*120
. . . . . . g.33387
ttcactaatttggaccaagaaattacttttcttgtatttaaacaaacaatggtagctcac c.*180
. . . . . . g.33447
taaaatgacctcagcacatgacgatttctattaacattttattgttgtagaagtatttta c.*240
. . . . . . g.33507
cattttcatcccttctccaaaagccgaatgcactaatgacagttttaagtctatgaaaat c.*300
. . . . . . g.33567
gctttattttttcattggtgatgaaagtctgaaatgtgcatttgtcatccccactccatc c.*360
. . . . . . g.33627
aatccctgaccatgtaaggcttttttattttaaaaaaacagagttatcccaatacattat c.*420
. . . . . . g.33687
cctgtgatttaccttacctacaaaagtggctcctgtttgtttgatgatgattggttttat c.*480
. . . . . . g.33747
ttttgaaatatttattaagggaaaactaagttactgaatgaaggaacctctttcttacaa c.*540
. . . . . . g.33807
aacaaaaaaaagggcagaaatcaccccaaggaacgatttctcaggttgagatgatcaccg c.*600
. . . . . . g.33867
tgaatccggcttcctctgagcattcgatggccttagcacctcatcaagccagcacatcct c.*660
. . . . . . g.33927
gcctgctgttgcagcctggctgggtttattcttcagttaccctaatcccatgatgcctgg c.*720
. . . . . . g.33987
aaccttgattaccgttttacatcagctcttgtacttttcagtatattttcataatgagtt c.*780
. . . . . . g.34047
atattgtcatttagactttgaacagctctgggaaatagaagactagggttgtttcttaaa c.*840
. . . . . . g.34107
tttagctcatgttataataaaaagttgaaatgaagttcttattctaaaagtctgaatgct c.*900
. . . . . . g.34167
tagaacaaacttaacatgtttatagaatatggtctctttgtaccaagtactttgcttaag c.*960
. . . . . . g.34227
agctcctttgggccactacatattttggtttctagaaaatgtttgtttatgaagaagtcg c.*1020
. . . . . . g.34287
atggaaaactgcaaacatatgcagaaaaggtagaataataaaaaaggtctaatgaactcc c.*1080
. . . . . . g.34347
attcagctttgaacctatccactcataaccattgactggcctttaaaaaaaagtattggc c.*1140
. . . . . . g.34407
agaattaatttccacctaggtgatgggaagaaagtgttcgcctgttccagcctgtggctc c.*1200
. . . . . . g.34467
ctgcctggaggttacccagtggtgcgccagcgccaagccatcactccccgagggcctccc c.*1260
. . . . . . g.34527
ctgccaatggtgctggtatcccatgcagctcaccactggctgcgtggaaactcccttttt c.*1320
. . . . . . g.34587
tccaactttattattggccttctaaggagctgttttagatgttttttctaactgcctcct c.*1380
. . . . . . g.34647
cccatgccattttaatactacagatgtactacgtatctgtttatatactgtacctacatc c.*1440
. . . . . . g.34707
tgtgctttgtacataaaagaaccagttttctcccccttgaggacagagactcatttgaac c.*1500
. . . g.34744
atgcataggttaataaataataaattcttatttaaca c.*1537
(downstream sequence)
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