(used for variant description)
(last modified July 24, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_004972.3 in the JAK2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_009904.1, covering JAK2 transcript NM_004972.3.
(upstream sequence)
. g.5014
ctgcaggaaggaga c.-481
. . . . . . g.5074
gaggaagaggagcagaagggggcagcagcggacgccgctaacggcctccctcggcgctga c.-421
. . . . . . g.5134
caggctgggccggcgcccggctcgcttgggtgttcgcgtcgccacttcggcttctcggcc c.-361
. . . . . . g.5194
ggtcgggcccctcggcccgggcttgcggcgcgcgtcggggctgagggctgctgcggcgca c.-301
. . . . . . g.5254
gggagaggcctggtcctcgctgccgagggatgtgagtgggagctgagcccacactggagg c.-241
. . . . . . g.5314
gcccccgagggcccagcctggaggtcgttcagagccgtgcccgtcccggggcttcgcaga c.-181
. . . . . . g.5374
ccttgacccgccgggtaggagccgcccctgcgggctcgagggcgcgctctggtcgcccga c.-121
. . | 02 . . . . g.5743
tctgtgtagccg | gtttcagaagcaggcaacaggaacaagatgtgaactgtttctcttctg c.-61
. . . . | 03 . . g.41743
cagaaaaagaggctcttcctcctcctcccgcgacg | gcaaatgttctgaaaaagactctgc c.-1
. . . . . . g.41803
ATGGGAATGGCCTGCCTTACGATGACAGAAATGGAGGGAACATCCACCTCTTCTATATAT c.60
M G M A C L T M T E M E G T S T S S I Y p.20
. . . . . . g.41863
CAGAATGGTGATATTTCTGGAAATGCCAATTCTATGAAGCAAATAGATCCAGTTCTTCAG c.120
Q N G D I S G N A N S M K Q I D P V L Q p.40
. . . . . . g.41923
GTGTATCTTTACCATTCCCTTGGGAAATCTGAGGCAGATTATCTGACCTTTCCATCTGGG c.180
V Y L Y H S L G K S E A D Y L T F P S G p.60
. . . . | 04 . . g.49552
GAGTATGTTGCAGAAGAAATCTGTATTGCTGCTTCTAAAGCTTGTG | GTATCACACCTGTG c.240
E Y V A E E I C I A A S K A C G | I T P V p.80
. . . . . . g.49612
TATCATAATATGTTTGCTTTAATGAGTGAAACAGAAAGGATCTGGTATCCACCCAACCAT c.300
Y H N M F A L M S E T E R I W Y P P N H p.100
. . . . . | 05 . g.64168
GTCTTCCATATAGATGAGTCAACCAGGCATAATGTACTCTACAGAATAAG | ATTTTACTTT c.360
V F H I D E S T R H N V L Y R I R | F Y F p.120
. . . . . . g.64228
CCTCGTTGGTATTGCAGTGGCAGCAACAGAGCCTATCGGCATGGAATATCTCGAGGTGCT c.420
P R W Y C S G S N R A Y R H G I S R G A p.140
. . . . | 06 . g.70453
GAAGCTCCTCTTCTTGATGACTTTGTCATGTCTTACCTCTTTGCTCAG | TGGCGGCATGAT c.480
E A P L L D D F V M S Y L F A Q | W R H D p.160
. . . . . . g.70513
TTTGTGCACGGATGGATAAAAGTACCTGTGACTCATGAAACACAGGAAGAATGTCTTGGG c.540
F V H G W I K V P V T H E T Q E E C L G p.180
. . . . . . g.70573
ATGGCAGTGTTAGATATGATGAGAATAGCCAAAGAAAACGATCAAACCCCACTGGCCATC c.600
M A V L D M M R I A K E N D Q T P L A I p.200
. | 07 . . . . . g.74364
TATAACTCTATCAG | CTACAAGACATTCTTACCAAAATGTATTCGAGCAAAGATCCAAGAC c.660
Y N S I S | Y K T F L P K C I R A K I Q D p.220
. . . . . . g.74424
TATCATATTTTGACAAGGAAGCGAATAAGGTACAGATTTCGCAGATTTATTCAGCAATTC c.720
Y H I L T R K R I R Y R F R R F I Q Q F p.240
. . . . . . g.74484
AGCCAATGCAAAGCCACTGCCAGAAACTTGAAACTTAAGTATCTTATAAATCTGGAAACT c.780
S Q C K A T A R N L K L K Y L I N L E T p.260
. . . . . . g.74544
CTGCAGTCTGCCTTCTACACAGAGAAATTTGAAGTAAAAGAACCTGGAAGTGGTCCTTCA c.840
L Q S A F Y T E K F E V K E P G S G P S p.280
. . . . . . g.74604
GGTGAGGAGATTTTTGCAACCATTATAATAACTGGAAACGGTGGAATTCAGTGGTCAAGA c.900
G E E I F A T I I I T G N G G I Q W S R p.300
. . . | 08 . . . g.75448
GGGAAACATAAAGAAAGTGAGACACTGACAGAACAG | GATTTACAGTTATATTGCGATTTT c.960
G K H K E S E T L T E Q | D L Q L Y C D F p.320
. . . . . . g.75508
CCTAATATTATTGATGTCAGTATTAAGCAAGCAAACCAAGAGGGTTCAAATGAAAGCCGA c.1020
P N I I D V S I K Q A N Q E G S N E S R p.340
. . . | 09 . . . g.84662
GTTGTAACTATCCATAAGCAAGATGGTAAAAATCTG | GAAATTGAACTTAGCTCATTAAGG c.1080
V V T I H K Q D G K N L | E I E L S S L R p.360
. . . . . . g.84722
GAAGCTTTGTCTTTCGTGTCATTAATTGATGGATATTATAGATTAACTGCAGATGCACAT c.1140
E A L S F V S L I D G Y Y R L T A D A H p.380
. . . . . . g.84782
CATTACCTCTGTAAAGAAGTAGCACCTCCAGCCGTGCTTGAAAATATACAAAGCAACTGT c.1200
H Y L C K E V A P P A V L E N I Q S N C p.400
. | 10 . . . . . g.86479
CATGGCCCAATTTC | GATGGATTTTGCCATTAGTAAACTGAAGAAAGCAGGTAATCAGACT c.1260
H G P I S | M D F A I S K L K K A G N Q T p.420
. . . . . . g.86539
GGACTGTATGTACTTCGATGCAGTCCTAAGGACTTTAATAAATATTTTTTGACTTTTGCT c.1320
G L Y V L R C S P K D F N K Y F L T F A p.440
| 11 . . . . . . g.88831
GTCGAG | CGAGAAAATGTCATTGAATATAAACACTGTTTGATTACAAAAAATGAGAATGAA c.1380
V E | R E N V I E Y K H C L I T K N E N E p.460
. . . . . . g.88891
GAGTACAACCTCAGTGGGACAAAGAAGAACTTCAGCAGTCTTAAAGATCTTTTGAATTGT c.1440
E Y N L S G T K K N F S S L K D L L N C p.480
. . . . . . g.88951
TACCAGATGGAAACTGTTCGCTCAGACAATATAATTTTCCAGTTTACTAAATGCTGTCCC c.1500
Y Q M E T V R S D N I I F Q F T K C C P p.500
. | 12 . . . . . g.89727
CCAAAGCCAAAAG | ATAAATCAAACCTTCTAGTCTTCAGAACGAATGGTGTTTCTGATGTA c.1560
P K P K D | K S N L L V F R T N G V S D V p.520
. . . . . . g.89787
CCAACCTCACCAACATTACAGAGGCCTACTCATATGAACCAAATGGTGTTTCACAAAATC c.1620
P T S P T L Q R P T H M N Q M V F H K I p.540
. . | 13 . . . . g.92286
AGAAATGAAGATTTGATATTT | AATGAAAGCCTTGGCCAAGGCACTTTTACAAAGATTTTT c.1680
R N E D L I F | N E S L G Q G T F T K I F p.560
. . . . . . g.92346
AAAGGCGTACGAAGAGAAGTAGGAGACTACGGTCAACTGCATGAAACAGAAGTTCTTTTA c.1740
K G V R R E V G D Y G Q L H E T E V L L p.580
. . . | 14 . . . g.93477
AAAGTTCTGGATAAAGCACACAGAAACTATTCAGAG | TCTTTCTTTGAAGCAGCAAGTATG c.1800
K V L D K A H R N Y S E | S F F E A A S M p.600
. . . . . . g.93537
ATGAGCAAGCTTTCTCACAAGCATTTGGTTTTAAATTATGGAGTATGTGTCTGTGGAGAC c.1860
M S K L S H K H L V L N Y G V C V C G D p.620
| 15 . . . . . . g.97264
GAGA | ATATTCTGGTTCAGGAGTTTGTAAAATTTGGATCACTAGATACATATCTGAAAAAG c.1920
E N | I L V Q E F V K F G S L D T Y L K K p.640
. . . . . . g.97324
AATAAAAATTGTATAAATATATTATGGAAACTTGAAGTTGCTAAACAGTTGGCATGGGCC c.1980
N K N C I N I L W K L E V A K Q L A W A p.660
. | 16 . . . . . g.98109
ATGCATTTTCTA | GAAGAAAACACCCTTATTCATGGGAATGTATGTGCCAAAAATATTCTG c.2040
M H F L | E E N T L I H G N V C A K N I L p.680
. . . . . . g.98169
CTTATCAGAGAAGAAGACAGGAAGACAGGAAATCCTCCTTTCATCAAACTTAGTGATCCT c.2100
L I R E E D R K T G N P P F I K L S D P p.700
. . . | 17 . . . g.100013
GGCATTAGTATTACAGTTTTGCCAAAGGACA | TTCTTCAGGAGAGAATACCATGGGTACCA c.2160
G I S I T V L P K D I | L Q E R I P W V P p.720
. . . . . . g.100073
CCTGAATGCATTGAAAATCCTAAAAATTTAAATTTGGCAACAGACAAATGGAGTTTTGGT c.2220
P E C I E N P K N L N L A T D K W S F G p.740
. . . . . . g.100133
ACCACTTTGTGGGAAATCTGCAGTGGAGGAGATAAACCTCTAAGTGCTCTGGATTCTCAA c.2280
T T L W E I C S G G D K P L S A L D S Q p.760
| 18 . . . . . . g.100345
AGA | AAGCTACAATTTTATGAAGATAGGCATCAGCTTCCTGCACCAAAGTGGGCAGAATTA c.2340
R | K L Q F Y E D R H Q L P A P K W A E L p.780
. . . . . . g.100405
GCAAACCTTATAAATAATTGTATGGATTATGAACCAGATTTCAGGCCTTCTTTCAGAGCC c.2400
A N L I N N C M D Y E P D F R P S F R A p.800
. . . | 19 . . . g.101506
ATCATACGAGATCTTAACAGTTTGTTTACTCCAG | ATTATGAACTATTAACAGAAAATGAC c.2460
I I R D L N S L F T P D | Y E L L T E N D p.820
. . . . . . g.101566
ATGTTACCAAATATGAGGATAGGTGCCCTGGGGTTTTCTGGTGCCTTTGAAGACCGGGAT c.2520
M L P N M R I G A L G F S G A F E D R D p.840
. . . . . | 20 . g.109438
CCTACACAGTTTGAAGAGAGACATTTGAAATTTCTACAGCAACTTGGCAAG | GGTAATTTT c.2580
P T Q F E E R H L K F L Q Q L G K | G N F p.860
. . . . . . g.109498
GGGAGTGTGGAGATGTGCCGGTATGACCCTCTACAGGACAACACTGGGGAGGTGGTCGCT c.2640
G S V E M C R Y D P L Q D N T G E V V A p.880
. . . . . . g.109558
GTAAAAAAGCTTCAGCATAGTACTGAAGAGCACCTAAGAGACTTTGAAAGGGAAATTGAA c.2700
V K K L Q H S T E E H L R D F E R E I E p.900
. . . . . . g.109618
ATCCTGAAATCCCTACAGCATGACAACATTGTAAAGTACAAGGGAGTGTGCTACAGTGCT c.2760
I L K S L Q H D N I V K Y K G V C Y S A p.920
| 21 . . . . . . g.110260
G | GTCGGCGTAATCTAAAATTAATTATGGAATATTTACCATATGGAAGTTTACGAGACTAT c.2820
G | R R N L K L I M E Y L P Y G S L R D Y p.940
. . . . . . g.110320
CTTCAAAAACATAAAGAACGGATAGATCACATAAAACTTCTGCAGTACACATCTCAGATA c.2880
L Q K H K E R I D H I K L L Q Y T S Q I p.960
| 22 . . . . . . g.110548
TGCAAG | GGTATGGAGTATCTTGGTACAAAAAGGTATATCCACAGGGATCTGGCAACGAGA c.2940
C K | G M E Y L G T K R Y I H R D L A T R p.980
. . . . . . g.110608
AATATATTGGTGGAGAACGAGAACAGAGTTAAAATTGGAGATTTTGGGTTAACCAAAGTC c.3000
N I L V E N E N R V K I G D F G L T K V p.1000
. . . . . | 23 g.142760
TTGCCACAAGACAAAGAATACTATAAAGTAAAAGAACCTGGTGAAAGTCCCATATTCTG | G c.3060
L P Q D K E Y Y K V K E P G E S P I F W | p.1020
. . . . . . g.142820
TATGCTCCAGAATCACTGACAGAGAGCAAGTTTTCTGTGGCCTCAGATGTTTGGAGCTTT c.3120
Y A P E S L T E S K F S V A S D V W S F p.1040
. . . . . | 24. g.146091
GGAGTGGTTCTGTATGAACTTTTCACATACATTGAGAAGAGTAAAAGTCCACCAGCG | GAA c.3180
G V V L Y E L F T Y I E K S K S P P A | E p.1060
. . . . . . g.146151
TTTATGCGTATGATTGGCAATGACAAACAAGGACAGATGATCGTGTTCCATTTGATAGAA c.3240
F M R M I G N D K Q G Q M I V F H L I E p.1080
. . . . . | 25 . g.146448
CTTTTGAAGAATAATGGAAGATTACCAAGACCAGATGGATGCCCAGATGAG | ATCTATATG c.3300
L L K N N G R L P R P D G C P D E | I Y M p.1100
. . . . . . g.146508
ATCATGACAGAATGCTGGAACAATAATGTAAATCAACGCCCCTCCTTTAGGGATCTAGCT c.3360
I M T E C W N N N V N Q R P S F R D L A p.1120
. . . g.146547
CTTCGAGTGGATCAAATAAGGGATAACATGGCTGGATGA c.3399
L R V D Q I R D N M A G X p.1132
. . . . . . g.146607
aagaaatgaccttcattctgagaccaaagtagatttacagaacaaagttttatatttcac c.*60
. . . . . . g.146667
attgctgtggactattattacatatatcattattatataaatcatgatgctagccagcaa c.*120
. . . . . . g.146727
agatgtgaaaatatctgctcaaaactttcaaagtttagtaagtttttcttcatgaggcca c.*180
. . . . . . g.146787
ccagtaaaagacattaatgagaattccttagcaaggattttgtaagaagtttcttaaaca c.*240
. . . . . . g.146847
ttgtcagttaacatcactcttgtctggcaaaagaaaaaaaatagactttttcaactcagc c.*300
. . . . . . g.146907
tttttgagacctgaaaaaattattatgtaaattttgcaatgttaaagatgcacagaatat c.*360
. . . . . . g.146967
gtatgtatagtttttaccacagtggatgtataataccttggcatcttgtgtgatgtttta c.*420
. . . . . . g.147027
cacacatgagggctggtgttcattaatactgttttctaatttttccatagttaatctata c.*480
. . . . . . g.147087
attaattacttcactatacaaacaaattaagatgttcagataattgaataagtacctttg c.*540
. . . . . . g.147147
tgtccttgttcatttatatcgctggccagcattataagcaggtgtatacttttagcttgt c.*600
. . . . . . g.147207
agttccatgtactgtaaatatttttcacataaagggaacaaatgtctagttttatttgta c.*660
. . . . . . g.147267
taggaaatttccctgaccctaaataatacattttgaaatgaaacaagcttacaaagatat c.*720
. . . . . . g.147327
aatctattttattatggtttcccttgtatctatttgtggtgaatgtgttttttaaatgga c.*780
. . . . . . g.147387
actatctccaaatttttctaagactactatgaacagttttcttttaaaattttgagatta c.*840
. . . . . . g.147447
agaatgccaggaatattgtcatcctttgagctgctgactgccaataacattcttcgatct c.*900
. . . . . . g.147507
ctgggatttatgctcatgaactaaatttaagcttaagccataaaatagattagattgttt c.*960
. . . . . . g.147567
tttaaaaatggatagctcattaagaagtgcagcaggttaagaattttttcctaaagactg c.*1020
. . . . . . g.147627
tatatttgaggggtttcagaattttgcattgcagtcatagaagagatttatttccttttt c.*1080
. . . . . . g.147687
agaggggaaatgaggtaaataagtaaaaaagtatgcttgttaattttattcaagaatgcc c.*1140
. . . . . . g.147747
agtagaaaattcataacgtgtatctttaagaaaaatgagcatacatcttaaatcttttca c.*1200
. . . . . . g.147807
attaagtataaggggttgttcgttgttgtcatttgttatagtgctactccactttagaca c.*1260
. . . . . . g.147867
ccatagctaaaataaaatatggtgggttttgtgtgtgtgtgtgtgtgtgtgtgtgtgtgt c.*1320
. . . . . . g.147927
gtgtgtgtgttatttatacaaaacttaaaatacttgctgttttgattaaaaagaaaatag c.*1380
. g.147939
tttcttacttta c.*1392
(downstream sequence)
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