(used for variant description)
(last modified September 18, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_004562.2 in the PARK2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000006.11, covering PARK2 transcript NM_004562.2.
(upstream sequence)
. g.5014
attcctagggccgg c.-121
. . . . . . g.5074
gcgcgggggcggggaggcctggaggatttaacccaggagagccgctggtgggaggcgcgg c.-61
. . . . . . g.5134
ctggcgccgctgcgcgcatgggcctgttcctggcccgcagccgccacctacccagtgacc c.-1
| 02. . . . . . g.289382
ATGATAG | TGTTTGTCAGGTTCAACTCCAGCCATGGTTTCCCAGTGGAGGTCGATTCTGAC c.60
M I V | F V R F N S S H G F P V E V D S D p.20
. . . . . . g.289442
ACCAGCATCTTCCAGCTCAAGGAGGTGGTTGCTAAGCGACAGGGGGTTCCGGCTGACCAG c.120
T S I F Q L K E V V A K R Q G V P A D Q p.40
. . . . . | 03 . g.470046
TTGCGTGTGATTTTCGCAGGGAAGGAGCTGAGGAATGACTGGACTGTGCAG | AATTGTGAC c.180
L R V I F A G K E L R N D W T V Q | N C D p.60
. . . . . . g.470106
CTGGATCAGCAGAGCATTGTTCACATTGTGCAGAGACCGTGGAGAAAAGGTCAAGAAATG c.240
L D Q Q S I V H I V Q R P W R K G Q E M p.80
. . . . . . g.470166
AATGCAACTGGAGGCGACGACCCCAGAAACGCGGCGGGAGGCTGTGAGCGGGAGCCCCAG c.300
N A T G G D D P R N A A G G C E R E P Q p.100
. . . . . . g.470226
AGCTTGACTCGGGTGGACCTCAGCAGCTCAGTCCTCCCAGGAGACTCTGTGGGGCTGGCT c.360
S L T R V D L S S S V L P G D S V G L A p.120
. . . . . | 04 . g.531558
GTCATTCTGCACACTGACAGCAGGAAGGACTCACCACCAGCTGGAAGTCCAG | CAGGTAGA c.420
V I L H T D S R K D S P P A G S P A | G R p.140
. . . . . . g.531618
TCAATCTACAACAGCTTTTATGTGTATTGCAAAGGCCCCTGTCAAAGAGTGCAGCCGGGA c.480
S I Y N S F Y V Y C K G P C Q R V Q P G p.160
. . . . . | 05 . g.678634
AAACTCAGGGTACAGTGCAGCACCTGCAGGCAGGCAACGCTCACCTTGACCCAG | GGTCCA c.540
K L R V Q C S T C R Q A T L T L T Q | G P p.180
. . . . . . g.678694
TCTTGCTGGGATGATGTTTTAATTCCAAACCGGATGAGTGGTGAATGCCAATCCCCACAC c.600
S C W D D V L I P N R M S G E C Q S P H p.200
. | 06 . . . . g.759427
TGCCCTGGGACTAGTGCA | GAATTTTTCTTTAAATGTGGAGCACACCCCACCTCTGACAAG c.660
C P G T S A | E F F F K C G A H P T S D K p.220
. . . . . . g.759487
GAAACATCAGTAGCTTTGCACCTGATCGCAACAAATAGTCGGAACATCACTTGCATTACG c.720
E T S V A L H L I A T N S R N I T C I T p.240
. | 07 . . . . . g.946940
TGCACAGACGTCAG | GAGCCCCGTCCTGGTTTTCCAGTGCAACTCCCGCCACGTGATTTGC c.780
C T D V R | S P V L V F Q C N S R H V I C p.260
. . . . . . g.947000
TTAGACTGTTTCCACTTATACTGTGTGACAAGACTCAATGATCGGCAGTTTGTTCACGAC c.840
L D C F H L Y C V T R L N D R Q F V H D p.280
. . . | 08 . . . g.1163415
CCTCAACTTGGCTACTCCCTGCCTTGTGTGG | CTGGCTGTCCCAACTCCTTGATTAAAGAG c.900
P Q L G Y S L P C V A | G C P N S L I K E p.300
. . . | 09 . . . g.1183826
CTCCATCACTTCAGGATTCTGGGAGAAGAGCAG | TACAACCGGTACCAGCAGTATGGTGCA c.960
L H H F R I L G E E Q | Y N R Y Q Q Y G A p.320
. . . . . . g.1183886
GAGGAGTGTGTCCTGCAGATGGGGGGCGTGTTATGCCCCCGCCCTGGCTGTGGAGCGGGG c.1020
E E C V L Q M G G V L C P R P G C G A G p.340
. . . . . . g.1183946
CTGCTGCCGGAGCCTGACCAGAGGAAAGTCACCTGCGAAGGGGGCAATGGCCTGGGCTGT c.1080
L L P E P D Q R K V T C E G G N G L G C p.360
| 10 . . . . . . g.1345982
GGG | TTTGCCTTCTGCCGGGAATGTAAAGAAGCGTACCATGAAGGGGAGTGCAGTGCCGTA c.1140
G | F A F C R E C K E A Y H E G E C S A V p.380
. . | 11. . . . g.1372630
TTTGAAGCCTCAGGAACAACTACTCAG | GCCTACAGAGTCGATGAAAGAGCCGCCGAGCAG c.1200
F E A S G T T T Q | A Y R V D E R A A E Q p.400
. . . . . . g.1372690
GCTCGTTGGGAAGCAGCCTCCAAAGAAACCATCAAGAAAACCACCAAGCCCTGTCCCCGC c.1260
A R W E A A S K E T I K K T T K P C P R p.420
. . | 12 . . . . g.1382626
TGCCATGTACCAGTGGAAAAAAATG | GAGGCTGCATGCACATGAAGTGTCCGCAGCCCCAG c.1320
C H V P V E K N G | G C M H M K C P Q P Q p.440
. . . . . . g.1382686
TGCAGGCTCGAGTGGTGCTGGAACTGTGGCTGCGAGTGGAACCGCGTCTGCATGGGGGAC c.1380
C R L E W C W N C G C E W N R V C M G D p.460
. g.1382704
CACTGGTTCGACGTGTAG c.1398
H W F D V X p.465
. . . . . . g.1382764
ccagggcggccgggcgccccatcgccacatcctgggggagcatacccagtgtctaccttc c.*60
. . . . . . g.1382824
attttctaattctcttttcaaacacacacacacacgcgcgcgcgcgcacacacactcttc c.*120
. . . . . . g.1382884
aagtttttttcaaagtccaactacagccaaattgcagaagaaactcctggatccctttca c.*180
. . . . . . g.1382944
ctatgtccatgaaaaacagcagagtaaaattacagaagaagctcctgaatccctttcagt c.*240
. . . . . . g.1383004
ttgtccacacaagacagcagagccatctgcgacaccaccaacaggcgttctcagcctccg c.*300
. . . . . . g.1383064
gatgacacaaataccagagcacagattcaagtgcaatccatgtatctgtatgggtcattc c.*360
. . . . . . g.1383124
tcacctgaattcgagacaggcagaatcagtagctggagagagagttctcacatttaatat c.*420
. . . . . . g.1383184
cctgccttttaccttcagtaaacaccatgaagatgccattgacaaggtgtttctctgtaa c.*480
. . . . . . g.1383244
aatgaactgcagtgggttctccaaactagattcatggctttaacagtaatgttcttattt c.*540
. . . . . . g.1383304
aaattttcagaaagcatctattcccaaagaaccccaggcaatagtcaaaaacatttgttt c.*600
. . . . . . g.1383364
atccttaagaattccatctatataaatcgcattaatgaaataccaactatgcgtaaatca c.*660
. . . . . . g.1383424
acttgtcacaaagtgagaaattatgaaagttaatttgaatgttgaatgtttgaattacag c.*720
. . . . . . g.1383484
ggaagaaatcaagttaatgtactttcattccctttcatgatttgcaactttagaaagaaa c.*780
. . . . . . g.1383544
ttgtttttctgaaagtatcaccaaaaaatctatagtttgattctgagtattcattttgca c.*840
. . . . . . g.1383604
acttggagattttgctaatacatttggctccactgtaaatttaatagataaagtgcctat c.*900
. . . . . . g.1383664
aaaggaaacacgtttagaaatgatttcaaaatgatattcaatcttaacaaaagtgaacat c.*960
. . . . . . g.1383724
tattaaatcagaatctttaaagaggagcctttccagaactaccaaaatgaagacacgccc c.*1020
. . . . . . g.1383784
gactctctccatcagaagggtttatacccctttggcacaccctctctgtccaatctgcaa c.*1080
. . . . . . g.1383844
gtcccagggagctctgcataccaggggttccccaggagagaccttctcttaggacagtaa c.*1140
. . . . . . g.1383904
actcactagaatattccttatgttgacatggattggatttcagttcaatcaaactttcag c.*1200
. . . . . . g.1383964
cttttttttcagccattcacaacacaatcaaaagattaacaacactgcatgcggcaaacc c.*1260
. . . . . . g.1384024
gcatgctcttacccacactacgcagaagagaaagtacaaccactatcttttgttctacct c.*1320
. . . . . . g.1384084
gtattgtctgacttctcaggaagatcgtgaacataactgagggcatgagtctcactagca c.*1380
. . . . . . g.1384144
catggaggcccttttggatttagagactgtaaattattaaatcggcaacagggcttctct c.*1440
. . . . . . g.1384204
ttttagatgtagcactgaaatccttgctggagggaagagaggggatgaactcaagttttc c.*1500
. . . . . . g.1384264
cacatcctgggacacctgtccctcttttcctaactgcctaagataacccatttcttccaa c.*1560
. . . . . . g.1384324
ccatctgaggacagtcccgtcgtctcagaggccctgcaccggggagagactgggctctgc c.*1620
. . . . . . g.1384384
agcagccacatcagcattcacagcttcatgtggcttcactgtctgaaaatctaccgactc c.*1680
. . . . . . g.1384444
caacatggccccacggtgacaacagacctgtgacaggaagcccaaagctcacatagaaat c.*1740
. . . . . . g.1384504
ggtggacagatcaaagtctctatagtaagggaaaaaaagagaggtggcaggcatgagccc c.*1800
. . . . . . g.1384564
cctgcacccagtggctcgtgtccatactgagtccagaccctgatcaaggcctgacttagt c.*1860
. . . . . . g.1384624
gtcactggcagtcccactaaattacacttccttacactggcccgatgcgacaaatcaggt c.*1920
. . . . . . g.1384684
ggctcccttctgtcacgtggagcacacagtgttttccatcatccatagctttcttcctga c.*1980
. . . . . . g.1384744
tggtgtttgcattattgcgccttcccaatctgcatgctgcgttgggcttgcggtgcctga c.*2040
. . . . . . g.1384804
acaaggtttgctcccatgagctcaggcaccctaggatcccctgttagactattaggctgt c.*2100
. . . . . . g.1384864
ccagcatggtctcctttcccttcttggtggtggtcttttccctttccagaatagaacagt c.*2160
. . . . . . g.1384924
gattcttaaaataagttagagcaggccgggcgcggtggctcatgcctgtaatcccagcac c.*2220
. . . . . . g.1384984
tttgggaggccgaggtgggtggatcacgaggtcaggagttcaagaccagcctggccaaga c.*2280
. . . . . . g.1385044
tgatgaaaccccgtctctattaaaaatacaaaaattagctgggcgtggtggcaggcacct c.*2340
. . . . . . g.1385104
gtaatcccagcttcctgggaggctgaggcaggagaatcacttgaacccggggggcagagg c.*2400
. . . . . . g.1385164
ttgcagtgagccgagatcacgccactgaactccagcctgggcaacagagtgagactctgt c.*2460
. . . . . . g.1385224
ctcaaaaaaaaaaaaaaaacaaaaacaaaaaagcaagatcatccactacacatgaacatg c.*2520
. . g.1385245
aatcacagtattatttgcaca c.*2541
(downstream sequence)
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