(used for variant description)
(last modified November 22, 2013)
This file was created to facilitate the description of sequence variants on transcript NM_001080449.2 in the DNA2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000010.10, covering DNA2 transcript NM_001080449.2.
(upstream sequence)
. . . . g.5049
atgcgcgcgaggtgcgcaggctcgcgcctttttcccttttctaagcttt c.-61
. . . . . . g.5109
ctgtgttacccccggttccgctgtcttttctgtctacagtttgcgatccccgcgtccagg c.-1
. . . . . . g.5169
ATGGAGCAGCTGAACGAACTGGAGCTGCTGATGGAGAAGAGTTTTTGGGAGGAGGCGGAG c.60
M E Q L N E L E L L M E K S F W E E A E p.20
. | 02 . . . . . g.6856
CTGCCGGCGGAGCT | ATTTCAGAAGAAAGTGGTAGCTTCCTTTCCAAGAACAGTTCTGAGC c.120
L P A E L | F Q K K V V A S F P R T V L S p.40
. . . . . . g.6916
ACAGGAATGGATAACCGGTACCTGGTGTTGGCAGTCAATACTGTACAGAACAAAGAGGGA c.180
T G M D N R Y L V L A V N T V Q N K E G p.60
. . . . . . g.6976
AACTGTGAAAAGCGCCTGGTCATCACTGCTTCACAGTCACTAGAAAATAAAGAACTATGC c.240
N C E K R L V I T A S Q S L E N K E L C p.80
. | 03. . . . . g.8710
ATCCTTAGGAATGACTG | GTGTTCTGTTCCAGTAGAGCCAGGAGATATCATTCATTTGGAG c.300
I L R N D W | C S V P V E P G D I I H L E p.100
. . . . . . g.8770
GGAGACTGCACATCTGACACTTGGATAATAGATAAAGATTTTGGATATTTGATTCTGTAT c.360
G D C T S D T W I I D K D F G Y L I L Y p.120
. . . . . . g.8830
CCAGACATGCTGATTTCTGGCACCAGCATAGCCAGTAGTATTCGATGTATGAGAAGAGCT c.420
P D M L I S G T S I A S S I R C M R R A p.140
. . | 04 . . . . g.11200
GTCCTGAGTGAAACTTTTAGG | AGCTCTGATCCAGCCACACGCCAAATGCTAATTGGTACG c.480
V L S E T F R | S S D P A T R Q M L I G T p.160
. . . . . . g.11260
GTTCTCCATGAGGTGTTTCAAAAAGCCATAAATAATAGCTTTGCCCCAGAAAAGCTACAA c.540
V L H E V F Q K A I N N S F A P E K L Q p.180
. . . . | 05. . g.17751
GAACTTGCTTTTCAAACAATTCAAGAAATAAGACATTTGAAGGAAAT | GTACCGCTTAAAT c.600
E L A F Q T I Q E I R H L K E M | Y R L N p.200
. . . . . . g.17811
CTAAGTCAAGATGAAATAAAACAAGAAGTAGAGGACTATCTTCCTTCGTTTTGTAAATGG c.660
L S Q D E I K Q E V E D Y L P S F C K W p.220
. . . . . | 06 g.26727
GCAGGAGATTTCATGCATAAAAACACTTCGACTGACTTCCCTCAGATGCAGCTCTCTCT | G c.720
A G D F M H K N T S T D F P Q M Q L S L | p.240
. . . . . . g.26787
CCAAGTGATAATAGTAAGGATAATTCAACATGTAACATTGAAGTCGTGAAACCAATGGAT c.780
P S D N S K D N S T C N I E V V K P M D p.260
. . . . . . g.26847
ATTGAAGAAAGCATTTGGTCCCCTAGGTTTGGATTGAAAGGCAAAATAGATGTTACAGTT c.840
I E E S I W S P R F G L K G K I D V T V p.280
. . . . . . g.26907
GGTGTGAAAATACATCGAGGGTATAAAACAAAATACAAGATAATGCCGCTGGAACTTAAA c.900
G V K I H R G Y K T K Y K I M P L E L K p.300
. . . | 07 . . g.30581
ACTGGCAAAGAATCAAATTCTATTGAACACCGTAGTCAG | GTTGTTCTGTACACTCTACTA c.960
T G K E S N S I E H R S Q | V V L Y T L L p.320
. . . . . . g.30641
AGCCAAGAGAGAAGAGCTGATCCAGAGGCTGGCTTGCTTCTCTACCTCAAGACTGGTCAG c.1020
S Q E R R A D P E A G L L L Y L K T G Q p.340
. . . | 08. . . g.31913
ATGTACCCTGTGCCTGCCAACCATCTAGATAAAAGAG | AATTATTAAAGCTAAGAAACCAG c.1080
M Y P V P A N H L D K R E | L L K L R N Q p.360
. . . . . . g.31973
ATGGCATTCTCATTGTTTCACCGTATTAGCAAATCTGCTACTAGACAGAAGACACAGCTT c.1140
M A F S L F H R I S K S A T R Q K T Q L p.380
. . . . . . g.32033
GCTTCTTTGCCACAAATAATTGAGGAAGAGAAAACTTGTAAATATTGTTCACAAATTGGC c.1200
A S L P Q I I E E E K T C K Y C S Q I G p.400
. . | 09 . . . . g.33902
AATTGTGCTCTTTATAGCAG | AGCAGTTGAACAACAGATGGATTGTAGTTCAGTCCCAATT c.1260
N C A L Y S R | A V E Q Q M D C S S V P I p.420
. . . . . . g.33962
GTGATGCTGCCCAAAATAGAAGAAGAAACCCAGCATCTGAAGCAAACACACTTAGAATAT c.1320
V M L P K I E E E T Q H L K Q T H L E Y p.440
. . . . . . g.34022
TTCAGCCTTTGGTGTCTAATGTTAACCCTGGAGTCACAATCGAAGGATAATAAAAAGAAT c.1380
F S L W C L M L T L E S Q S K D N K K N p.460
. . . | 10 . . . g.39757
CACCAAAATATCTGGCTAATGCCTGCTTCGGAAAT | GGAGAAGAGTGGCAGTTGCATTGGA c.1440
H Q N I W L M P A S E M | E K S G S C I G p.480
. . . . . . g.39817
AACCTGATTAGAATGGAACATGTAAAGATAGTTTGTGATGGGCAATATTTACATAATTTC c.1500
N L I R M E H V K I V C D G Q Y L H N F p.500
. . . . . . g.39877
CAATGTAAACATGGTGCCATACCTGTCACAAATCTAATGGCAGGTGACAGAGTTATTGTA c.1560
Q C K H G A I P V T N L M A G D R V I V p.520
. . . . . . g.39937
AGTGGAGAAGAAAGGTCACTGTTTGCTTTGTCTAGAGGATATGTGAAGGAGATTAACATG c.1620
S G E E R S L F A L S R G Y V K E I N M p.540
. . | 11 . . . . g.44497
ACAACAGTAACTTGTTTATTAGACAG | AAACTTGTCGGTCCTTCCAGAATCAACTTTGTTC c.1680
T T V T C L L D R | N L S V L P E S T L F p.560
. . . . . . g.44557
AGATTAGACCAAGAAGAAAAAAATTGTGATATAGATACCCCATTAGGAAATCTTTCCAAA c.1740
R L D Q E E K N C D I D T P L G N L S K p.580
. . | 12 . . . . g.44695
TTGATGGAAAACACGTTTGTCAG | CAAAAAACTTCGAGATTTAATTATTGACTTTCGTGAA c.1800
L M E N T F V S | K K L R D L I I D F R E p.600
. . . . . . g.44755
CCTCAGTTTATATCCTACCTTAGTTCTGTTCTTCCACATGATGCAAAGGATACAGTTGCC c.1860
P Q F I S Y L S S V L P H D A K D T V A p.620
. | 13 . . . . . g.45049
TGCATTCTAAAGG | GTTTGAATAAGCCTCAGAGGCAAGCGATGAAAAAGGTACTTCTTTCA c.1920
C I L K G | L N K P Q R Q A M K K V L L S p.640
. . . . . . g.45109
AAAGACTACACACTCATCGTGGGTATGCCTGGGACAGGAAAAACAACTACGATATGTACT c.1980
K D Y T L I V G M P G T G K T T T I C T p.660
| 14 . . . . . . g.46370
CTC | GTAAGAATTCTCTACGCCTGTGGTTTTAGCGTTTTGTTGACCAGCTATACACACTCT c.2040
L | V R I L Y A C G F S V L L T S Y T H S p.680
. . . . . . g.46430
GCTGTTGACAATATTCTTTTGAAGTTAGCCAAGTTTAAAATAGGATTTTTGCGTTTGGGT c.2100
A V D N I L L K L A K F K I G F L R L G p.700
. . . . . . g.46490
CAGATTCAGAAGGTTCATCCAGCTATCCAGCAATTTACAGAGCAAGAAATTTGCAGATCA c.2160
Q I Q K V H P A I Q Q F T E Q E I C R S p.720
. . . . | 15 . g.54095
AAGTCCATTAAATCCTTAGCTCTTCTAGAAGAACTCTACAATAGTCAA | CTTATAGTTGCA c.2220
K S I K S L A L L E E L Y N S Q | L I V A p.740
. . . . . . g.54155
ACAACATGTATGGGAATAAACCATCCAATATTTTCCCGTAAAATTTTTGATTTTTGTATT c.2280
T T C M G I N H P I F S R K I F D F C I p.760
. . . . . . g.54215
GTGGATGAAGCCTCTCAAATTAGCCAACCAATTTGTCTGGGCCCCCTTTTTTTTTCACGG c.2340
V D E A S Q I S Q P I C L G P L F F S R p.780
. . . . . . g.54275
AGATTTGTGTTAGTGGGGGACCATCAGCAGCTTCCTCCCCTGGTGCTAAACCGTGAAGCA c.2400
R F V L V G D H Q Q L P P L V L N R E A p.800
| 16 . . . . . . g.54427
AG | AGCTCTTGGCATGAGTGAAAGCTTATTCAAGAGGCTGGAGCAGAATAAGAGTGCTGTT c.2460
R | A L G M S E S L F K R L E Q N K S A V p.820
. . . | 17 . . . g.54572
GTACAGTTAACCGTGCAGTACAGAATGAACAG | TAAAATTATGTCCTTAAGTAATAAGCTG c.2520
V Q L T V Q Y R M N S | K I M S L S N K L p.840
. . . . . . g.54632
ACCTATGAGGGCAAGCTGGAGTGTGGATCAGACAAAGTGGCCAATGCAGTGATAAACCTA c.2580
T Y E G K L E C G S D K V A N A V I N L p.860
. . . . . . g.54692
CGTCACTTTAAAGATGTGAAGCTGGAACTGGAATTTTATGCTGACTATTCTGATAATCCT c.2640
R H F K D V K L E L E F Y A D Y S D N P p.880
. . . . . | 18. g.57084
TGGTTGATGGGAGTATTTGAACCCAACAATCCTGTTTGTTTCCTTAATACAGACAAG | GTT c.2700
W L M G V F E P N N P V C F L N T D K | V p.900
. . . . . . g.57144
CCAGCGCCAGAACAAGTTGAAAAAGGTGGTGTGAGCAATGTAACAGAAGCCAAACTCATA c.2760
P A P E Q V E K G G V S N V T E A K L I p.920
. . | 19. . . . g.57793
GTTTTCCTAACCTCCATTTTTGTTAAG | GCTGGATGCAGTCCCTCTGATATTGGTATTATT c.2820
V F L T S I F V K | A G C S P S D I G I I p.940
. . . . . . g.57853
GCACCGTACAGGCAGCAATTAAAGATCATCAATGATTTATTGGCACGTTCTATTGGGATG c.2880
A P Y R Q Q L K I I N D L L A R S I G M p.960
. . . . . . g.57913
GTCGAAGTTAATACAGTAGACAAATACCAAGGAAGGGACAAAAGTATTGTCCTAGTATCT c.2940
V E V N T V D K Y Q G R D K S I V L V S p.980
. . | 20. . . . g.60151
TTTGTTAGAAGTAATAAGGATGGAACT | GTTGGTGAACTCTTGAAAGATTGGCGACGTCTT c.3000
F V R S N K D G T | V G E L L K D W R R L p.1000
. . . . . . g.60211
AATGTTGCTATAACCAGAGCCAAACATAAACTGATTCTTCTGGGGTGTGTGCCCTCACTA c.3060
N V A I T R A K H K L I L L G C V P S L p.1020
. . . . . | 21 . g.61872
AATTGCTATCCTCCTTTGGAGAAGCTGCTTAATCATTTAAACTCAGAAAAATTA | ATCATT c.3120
N C Y P P L E K L L N H L N S E K L | I I p.1040
. . . . . . g.61932
GATCTTCCATCAAGAGAACATGAAAGTCTTTGCCACATATTGGGTGACTTTCAAAGAGAA c.3180
D L P S R E H E S L C H I L G D F Q R E p.1060
g.61935
TAA c.3183
X p.1060
. . . . . . g.61995
aacactatttcccttgccttttcatactagggcagtatctcctctagctagtgcccatac c.*60
. . . . . . g.62055
agaaaattctatcaccatacaaaatttaatgcagtatttatgttttaaagcacaggtgta c.*120
. . . . . . g.62115
ccgaaaactgtgaaaagtctgaatttatgggttctatgcatgcatttttgcctaacctag c.*180
. . . . . . g.62175
agaaagagtttgataaatttttaccagctttgaagatggattaacttttgactttgagct c.*240
. . . . . . g.62235
ttaaacttttaagtcagacatttcaggactaatttgattttgtagatatcattgtaagaa c.*300
. . . . . . g.62295
ctttatttgaaagactgaataaagggatttgatttgttttcatcatttaagcacagtctt c.*360
. . . . . . g.62355
gtgatgatgagaacataagtgtgattcttttctgtattttgaggtccctaatccaaagcc c.*420
. . . . . . g.62415
cattttgctaggattttttctgctatcagatgtgttttcactctaaacctagtcttttat c.*480
. . . . . . g.62475
gacatgaattgattacttcctgttaattttctatcctcccttactatcctccttttttgt c.*540
. . . . . . g.62535
tttcagtattcagtatttcagtattctagagtagattttgatataaaagaaaataattct c.*600
. . . . . . g.62595
tacatcatcttttgcaacaaattttgttttctgaattgataataaatttaaaaagttgat c.*660
. . . . . . g.62655
tcctattttcacatatgttcatatgcccctatgtttgggggtatcactcagttttccctt c.*720
. . . . . . g.62715
ttttgtgtaaagatgttttgtaaaacaaaattgtctcaaagtgattatattatatatata c.*780
. . . . . . g.62775
aaaagtaacagattttaacaaaggttaaaagattcttggggtaacagattcttctggggc c.*840
. . . . . . g.62835
ttggaaatcttccatttctcttgagggttttttttaatgagtgttaaatatgttaaaatt c.*900
. . . . . . g.62895
tttatttctacctcatgtgtttttttaaattattacttgaagttttttatttaataaatt c.*960
. g.62910
ttttctactaatgga c.*975
(downstream sequence)
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