(used for variant description)
(last modified January 6, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_012229.4 in the NT5C2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_042272.1, covering NT5C2 transcript NM_012229.4.
(upstream sequence)
. g.5013
gggcggggagggc c.-181
. . . . . . | 02 g.16980
gcgcgttgaggcggctgcggcagttgcgcgctgggattgttgcggtgcgctggagccg | ag c.-121
. . . . . . g.17040
tttcgctctgctgcccaggctggagtacagtgatgtgatctcctgacgtcaagtgatcca c.-61
. . . . | 03 . . g.23348
ttcgcctcggcctcccaaagttctgggattacaagt | aatacaaaatacagttaaaataaa c.-1
. . . . . . g.23408
ATGTCAACCTCCTGGAGTGATCGGTTACAGAATGCAGCAGATATGCCTGCTAACATGGAT c.60
M S T S W S D R L Q N A A D M P A N M D p.20
. . . . | 04 . . g.58846
AAGCATGCCCTGAAAAAGTATCGTCGAGAAGCCTATCATCG | GGTGTTTGTGAACCGAAGT c.120
K H A L K K Y R R E A Y H R | V F V N R S p.40
. . . . . | 05 . g.91605
TTAGCAATGGAAAAGATAAAGTGTTTTGGTTTTGATATGGATTATACCCTTGCTG | TGTAC c.180
L A M E K I K C F G F D M D Y T L A V | Y p.60
. . . . . . g.91665
AAGTCCCCAGAGTATGAGTCCCTTGGTTTTGAGCTTACTGTGGAGAGATTAGTTTCTATT c.240
K S P E Y E S L G F E L T V E R L V S I p.80
. . . . . | 06 . g.92512
GGCTATCCCCAGGAGTTGCTCAGCTTTGCTTATGATTCTACATTCCCTACCAG | GGGACTT c.300
G Y P Q E L L S F A Y D S T F P T R | G L p.100
. . . . . . g.92572
GTCTTTGACACACTGTATGGAAATCTTTTGAAAGTCGATGCCTATGGAAACCTCTTGGTC c.360
V F D T L Y G N L L K V D A Y G N L L V p.120
. . | 07 . . . g.97011
TGTGCACATGGATTTAACTTTATAAGGGG | ACCAGAAACTAGAGAACAGTATCCAAATAAA c.420
C A H G F N F I R G | P E T R E Q Y P N K p.140
. . . . . . g.97071
TTTATCCAGCGAGATGATACTGAAAGATTTTACATTCTGAACACACTATTCAACCTACCA c.480
F I Q R D D T E R F Y I L N T L F N L P p.160
| 08 . . . . . | 09 g.98288
G | AGACCTACCTGTTGGCCTGCCTAGTAGATTTTTTTACTAATTGTCCCAGATATACCAG | T c.540
E | T Y L L A C L V D F F T N C P R Y T S | p.180
. . . . . . g.98348
TGTGAAACAGGATTTAAAGATGGGGACCTCTTCATGTCCTACCGGAGTATGTTCCAGGAT c.600
C E T G F K D G D L F M S Y R S M F Q D p.200
. . . | 10 . . . g.99349
GTAAGAGATGCTGTTGACTGGGTTCATTACAAG | GGCTCCCTTAAGGAAAAGACAGTTGAA c.660
V R D A V D W V H Y K | G S L K E K T V E p.220
. . | 11. . . . g.100965
AATCTTGAGAAGTATGTAGTCAAAGAT | GGAAAACTGCCTTTGCTTCTGAGCCGGATGAAG c.720
N L E K Y V V K D | G K L P L L L S R M K p.240
. . . . . | 12 . g.102335
GAAGTAGGGAAAGTATTTCTTGCTACCAACAGTGACTATAAATATACAGAT | AAAATTATG c.780
E V G K V F L A T N S D Y K Y T D | K I M p.260
. . . | 13 . . . g.103878
ACTTACCTGTTTGACTTCCCACATGGCCCCAAG | CCTGGGAGCTCCCATCGACCATGGCAG c.840
T Y L F D F P H G P K | P G S S H R P W Q p.280
. . . . . . g.103938
TCCTACTTTGACTTGATCTTGGTGGATGCACGGAAACCACTCTTTTTTGGAGAAGGCACA c.900
S Y F D L I L V D A R K P L F F G E G T p.300
. . | 14 . . . . g.104307
GTACTGCGTCAGGTGGATACT | AAAACTGGCAAGCTGAAAATTGGTACCTACACAGGGCCC c.960
V L R Q V D T | K T G K L K I G T Y T G P p.320
. . | 15 . . . g.105029
CTACAGCATGGTATCGTCTACTCAGGAG | GTTCTTCTGATACGATCTGTGACCTGTTGGGA c.1020
L Q H G I V Y S G G | S S D T I C D L L G p.340
. . . . . . g.105089
GCCAAGGGAAAAGACATTTTGTATATTGGAGATCACATTTTTGGGGACATTTTAAAATCA c.1080
A K G K D I L Y I G D H I F G D I L K S p.360
. . . . . . g.105149
AAGAAACGGCAAGGGTGGCGAACTTTTTTGGTGATTCCTGAACTCGCACAGGAGCTACAT c.1140
K K R Q G W R T F L V I P E L A Q E L H p.380
. | 16 . . . . g.106732
GTCTGGACTGACAAGAGTT | CACTTTTCGAAGAACTTCAGAGCTTGGATATTTTCTTGGCT c.1200
V W T D K S S | L F E E L Q S L D I F L A p.400
. | 17 . . . . . g.107359
GAACTCTACAA | GCATCTTGACAGCAGTAGCAATGAGCGTCCAGACATCAGTTCCATCCAG c.1260
E L Y K | H L D S S S N E R P D I S S I Q p.420
. | 18 . . . . . g.107567
AGACGTATTAAG | AAAGTAACTCATGACATGGACATGTGCTATGGGATGATGGGAAGCCTG c.1320
R R I K | K V T H D M D M C Y G M M G S L p.440
. . . . . . g.107627
TTTCGCAGTGGCTCCCGGCAGACCCTTTTTGCCAGTCAAGTGATGCGTTATGCTGACCTC c.1380
F R S G S R Q T L F A S Q V M R Y A D L p.460
. . . . . . g.107687
TATGCAGCATCTTTCATCAACCTGCTGTATTACCCTTTCAGCTACCTCTTCAGGGCTGCC c.1440
Y A A S F I N L L Y Y P F S Y L F R A A p.480
| 19 . . . . . g.108449
CATGTCTTG | ATGCCTCATGAATCAACGGTGGAGCACACACACGTAGATATCAATGAGATG c.1500
H V L | M P H E S T V E H T H V D I N E M p.500
. . . . . . g.108509
GAGTCTCCTCTTGCCACCCGGAACCGCACATCAGTGGATTTCAAAGACACTGACTACAAG c.1560
E S P L A T R N R T S V D F K D T D Y K p.520
. . . . . . g.108569
CGGCACCAGCTGACACGGTCAATTAGTGAGATTAAACCTCCCAACCTCTTCCCACTGGCC c.1620
R H Q L T R S I S E I K P P N L F P L A p.540
. . . . . . g.108629
CCCCAGGAAATTACACACTGCCATGACGAAGATGATGATGAAGAGGAGGAGGAGGAGGAA c.1680
P Q E I T H C H D E D D D E E E E E E E p.560
g.108635
GAATAA c.1686
E X p.561
. . . . . . g.108695
ggaggaaaaccaaaaccccaagcacccattaaacaagtcctggcaggactcacaggaaca c.*60
. . . . . . g.108755
aacgaggtccctgttagggttctactcgggggagggagggggctccatgaaaggtacgtc c.*120
. . . . . . g.108815
tgaaaagtttctgaagattttattatcatagatacttgttttggttttgtgtatctgtac c.*180
. . . . . . g.108875
tctctgcagatggtccaaaattgtaatggagtctgtattagaagaaaataagggtaaaat c.*240
. . . . . . g.108935
caggctgaactgcatgtatatggctccactgtggcttgtgacacttttaaaatcatccgt c.*300
. . . . . . g.108995
atgtcagtgtatctggatacacgaggaaaaggaaagagtctcagagtggaacaaagagtg c.*360
. . . . . . g.109055
ggaagaggtgatctgtaatgttacaaattgtgctattactccaaggtccaacttttccag c.*420
. . . . . . g.109115
tgcattacatggtattgtatatcagtggagaaatgtattatttccatgatcaaatgtagt c.*480
. . . . . . g.109175
ctctgttaaggtcaagttttcttttataagcctttaattcatcctcagtgactctggcaa c.*540
. . . . . . g.109235
ggctgcttctctatcactggctttgcacagaagtatgctctacttgcgttgctttagggc c.*600
. . . . . . g.109295
aggattctattttgagggaaaagacagtatccttattaccttttgtttgtttaatagcac c.*660
. . . . . . g.109355
aaatgcttatttgttatccaaaaacaacctccttcttatctgtgataaatctatagaaag c.*720
. . . . . . g.109415
aatttagctgcaagtggacaaaggaacaagcccccagaaaagaaagggaagaactgcctt c.*780
. . . . . . g.109475
cttatactacagaacatgcattagtgtgggctatatagctgtggctcatgctacccaatt c.*840
. . . . . . g.109535
ccagatttctttgtcctctaagagttgattgctgtatattaaaattgaacatcagaggat c.*900
. . . . . . g.109595
gggaagagggctctgtaagccagaaccttactaaagtagagggcacaatcagtgtgaata c.*960
. . . . . . g.109655
aattcacttcagaatctcaagtcaaggccaggcacggcggctcacgcctgtaatcccagc c.*1020
. . . . . . g.109715
actttgggaggccgagacaggcggatcacctgaggtcgggagttcgagaccagccttacc c.*1080
. . . . . . g.109775
aacatggagaaaccccatctctactaaaaatacaaaattacctgggcgtggtggtgcatg c.*1140
. . . . . . g.109835
cctgtaatcccatcatctactcaggaggctgaggcaggagaattgcttgaacccaggagg c.*1200
. . . . . . g.109895
cggaggttgcagtgagccaggattgtgccattgcactccagcctgggcaacaagaacaaa c.*1260
. . . . . . g.109955
actccatctcaaaaaataaaaatcccaatcccaagtcgaaatcacctcttgttttaaaca c.*1320
. . . . . . g.110015
agaatgaatcattactgtgtatgttagggtattaaaactgtttcaccagtacagtgaaag c.*1380
. . . . . . g.110075
ttgtttcaacattttaaacaaacagtggttatagactctttctttaaccattgtatattt c.*1440
. . . . . . g.110135
tcttccattcttgtcattggtcaataggggagggtagattagctgctccagaattcaata c.*1500
. . . . . . g.110195
aagtgtaatatttctaacggtgactttgacctattctgtagtacaactgtaatagctatt c.*1560
. . . . . . g.110255
ggtcttcaagtgggtttagatttggtgacatcagtttgatattctcttaaaggaaataaa c.*1620
. . . g.110290
tattcaagaactgattatgttctaacatgattata c.*1655
(downstream sequence)
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