(used for variant description)
(last modified April 30, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_182943.2 in the PLOD2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_009251.1, covering PLOD2 transcript NM_182943.2.
(upstream sequence)
. . g.5026
acaccgccctcccgccagactcccgg c.-481
. . . . . . g.5086
cggctcctcctccctctcccaaacccactcccaaagctaagtgcaggcttccccgttcca c.-421
. . . . . . g.5146
gccagaagcgctgcgtgagcctccacacgtagccgcaggcagctccttaaatagcgtccg c.-361
. . . . . . g.5206
cgctgagcaaacagtccagacgtggggcccaggagggcgagctgaggcgaccgcaccggg c.-301
. . . . . . g.5266
cgcgcagcggcggcgggtcagccggcggccaatagccagggcgcggcccgccccgtcgcc c.-241
. . . . . . g.5326
tcccctcggggagcctataaggcctccgcagcgccccgggcgcctgctgctccgtgcctc c.-181
. . . . . . g.5386
caccgacgacctcactcagctgcgttacgcgccgctccggctgccggccgcgcgccttgc c.-121
. . . . . . g.5446
ccgccggctcccgcccgcaatcggcggctcagggcggacccgggtctctgcgttctcgcg c.-61
. . . . . . g.5506
agaagcgcggcgctgcggggccgtgggcgcctgagcccgcgcggccctcgagggccgaat c.-1
. . . . . . g.5566
ATGGGGGGATGCACGGTGAAGCCTCAGCTGCTGCTCCTGGCGCTCGTCCTCCACCCCTGG c.60
M G G C T V K P Q L L L L A L V L H P W p.20
. . . . | 02 . g.42277
AATCCCTGTCTGGGTGCGGACTCGGAGAAGCCCTCGAGCATCCCCACAG | ATAAATTATTA c.120
N P C L G A D S E K P S S I P T D | K L L p.40
. . . . . . g.42337
GTCATAACTGTAGCAACAAAAGAAAGTGATGGATTCCATCGATTTATGCAGTCAGCCAAA c.180
V I T V A T K E S D G F H R F M Q S A K p.60
. . | 03 . . . . g.45286
TATTTCAATTATACTGTGAAG | GTCCTTGGTCAAGGAGAAGAATGGAGAGGTGGTGATGGA c.240
Y F N Y T V K | V L G Q G E E W R G G D G p.80
. . . . . . g.45346
ATTAATAGTATTGGAGGGGGCCAGAAAGTGAGATTAATGAAAGAAGTCATGGAACACTAT c.300
I N S I G G G Q K V R L M K E V M E H Y p.100
. . . | 04 . . g.56069
GCTGATCAAGATGATCTGGTTGTCATGTTTACTGAATG | CTTTGATGTCATATTTGCTGGT c.360
A D Q D D L V V M F T E C | F D V I F A G p.120
. . . . . . g.56129
GGTCCAGAAGAAGTTCTAAAAAAATTCCAAAAGGCAAACCACAAAGTGGTCTTTGCAGCA c.420
G P E E V L K K F Q K A N H K V V F A A p.140
. . . . . . g.56189
GATGGAATTTTGTGGCCAGATAAAAGACTAGCAGACAAGTATCCTGTTGTGCACATTGGG c.480
D G I L W P D K R L A D K Y P V V H I G p.160
. . | 05 . . . . g.59889
AAACGCTATCTGAATTCAGGAG | GATTTATTGGCTATGCTCCATATGTCAACCGTATAGTT c.540
K R Y L N S G G | F I G Y A P Y V N R I V p.180
. . . . . . g.59949
CAACAATGGAATCTCCAGGATAATGATGATGATCAGCTCTTTTACACTAAAGTTTACATT c.600
Q Q W N L Q D N D D D Q L F Y T K V Y I p.200
. | 06 . . . . . g.62198
GATCCACTGAAAAGG | GAAGCTATTAACATCACATTGGATCACAAATGCAAAATTTTCCAG c.660
D P L K R | E A I N I T L D H K C K I F Q p.220
. | 07 . . . . g.63684
ACCTTAAATGGAGCTGTAG | ATGAAGTTGTTTTAAAATTTGAAAATGGCAAAGCCAGAGCT c.720
T L N G A V D | E V V L K F E N G K A R A p.240
. . . . . | 08. g.74597
AAGAATACATTTTATGAAACATTACCAGTGGCAATTAATGGAAATGGACCCACCAAG | ATT c.780
K N T F Y E T L P V A I N G N G P T K | I p.260
. . . . . . g.74657
CTCCTGAATTATTTTGGAAACTATGTACCCAATTCATGGACACAGGATAATGGCTGCACT c.840
L L N Y F G N Y V P N S W T Q D N G C T p.280
. . . | 09 . . g.77805
CTTTGTGAATTCGATACAGTCGACTTGTCTGCAGTAGAT | GTCCATCCAAACGTATCAATA c.900
L C E F D T V D L S A V D | V H P N V S I p.300
. . . . . . g.77865
GGTGTTTTTATTGAGCAACCAACCCCTTTTCTACCTCGGTTTCTGGACATATTGTTGACA c.960
G V F I E Q P T P F L P R F L D I L L T p.320
. . . . | 10 . . g.79602
CTGGATTACCCAAAAGAAGCACTTAAACTTTTTATTCATAACAAA | GAAGTTTATCATGAA c.1020
L D Y P K E A L K L F I H N K | E V Y H E p.340
. . . . . . g.79662
AAGGACATCAAGGTATTTTTTGATAAAGCTAAGCATGAAATCAAAACTATAAAAATAGTA c.1080
K D I K V F F D K A K H E I K T I K I V p.360
. . . . | 11. . g.81235
GGACCAGAAGAAAATCTAAGTCAAGCGGAAGCCAGAAACATGGGAAT | GGACTTTTGCCGT c.1140
G P E E N L S Q A E A R N M G M | D F C R p.380
. . . . . . g.81295
CAGGATGAAAAGTGTGATTATTACTTTAGTGTGGATGCAGATGTTGTTTTGACAAATCCA c.1200
Q D E K C D Y Y F S V D A D V V L T N P p.400
. . . | 12 . . . g.84660
AGGACTTTAAAAATTTTGATTGAACAAAACAG | AAAGATCATTGCTCCTCTTGTAACTCGT c.1260
R T L K I L I E Q N R | K I I A P L V T R p.420
. . . . . . g.84720
CATGGAAAGCTGTGGTCCAATTTCTGGGGAGCATTGAGTCCTGATGGATACTATGCACGA c.1320
H G K L W S N F W G A L S P D G Y Y A R p.440
. . . | 13 . . g.87260
TCTGAAGATTATGTGGATATTGTTCAAGGGAATAGAGT | AGGAGTATGGAATGTCCCATAT c.1380
S E D Y V D I V Q G N R V | G V W N V P Y p.460
. . . . . . g.87320
ATGGCTAATGTGTACTTAATTAAAGGAAAGACACTCCGATCAGAGATGAATGAAAGGAAC c.1440
M A N V Y L I K G K T L R S E M N E R N p.480
. . . . . . g.87380
TATTTTGTTCGTGATAAACTGGATCCTGATATGGCTCTTTGCCGAAATGCTAGAGAAATG c.1500
Y F V R D K L D P D M A L C R N A R E M p.500
| 14 . . . . . . g.88631
| ACTTTACAAAGGGAAAAAGACTCCCCTACTCCGGAAACATTCCAAATGCTCAGCCCCCCA c.1560
| T L Q R E K D S P T P E T F Q M L S P P p.520
| 15 . . . . . . g.89657
AAG | GGTGTATTTATGTACATTTCTAATAGACATGAATTTGGAAGGCTATTATCCACTGCT c.1620
K | G V F M Y I S N R H E F G R L L S T A p.540
. . . . . | 16. g.93146
AATTACAATACTTCCCATTATAACAATGACCTCTGGCAGATTTTTGAAAATCCTGTG | GAC c.1680
N Y N T S H Y N N D L W Q I F E N P V | D p.560
. . . . . . g.93206
TGGAAGGAAAAGTATATAAACCGTGATTATTCAAAGATTTTCACTGAAAATATAGTTGAA c.1740
W K E K Y I N R D Y S K I F T E N I V E p.580
| 17 . . . . . . g.93887
CAG | CCCTGTCCAGATGTCTTTTGGTTCCCCATATTTTCTGAAAAAGCCTGTGATGAATTG c.1800
Q | P C P D V F W F P I F S E K A C D E L p.600
. . . . | 18 . g.95084
GTAGAAGAAATGGAACATTACGGCAAATGGTCTGGGGGAAAACATCAT | GATAGCCGTATA c.1860
V E E M E H Y G K W S G G K H H | D S R I p.620
. . . . . . g.95144
TCTGGTGGTTATGAAAATGTCCCAACTGATGATATCCACATGAAGCAAGTTGATCTGGAG c.1920
S G G Y E N V P T D D I H M K Q V D L E p.640
. . . . . . g.95204
AATGTATGGCTTCATTTTATCCGGGAGTTCATTGCACCAGTTACACTGAAGGTCTTTGCA c.1980
N V W L H F I R E F I A P V T L K V F A p.660
. | 19 . . . . . g.95373
GGCTATTATACGAAG | GGATTTGCACTACTGAATTTTGTAGTAAAATACTCCCCTGAACGA c.2040
G Y Y T K | G F A L L N F V V K Y S P E R p.680
. . . . . . g.95433
CAGCGTTCTCTTCGTCCTCATCATGATGCTTCTACATTTACCATAAACATTGCACTTAAT c.2100
Q R S L R P H H D A S T F T I N I A L N p.700
. . | 20 . . . . g.95662
AACGTGGGAGAAGACTTTCAG | GGAGGTGGTTGCAAATTTCTAAGGTACAATTGCTCTATT c.2160
N V G E D F Q | G G G C K F L R Y N C S I p.720
. . . . . . g.95722
GAGTCACCACGAAAAGGCTGGAGCTTCATGCATCCTGGGAGACTCACACATTTGCATGAA c.2220
E S P R K G W S F M H P G R L T H L H E p.740
. . . . . g.95779
GGACTTCCTGTTAAAAATGGAACAAGATACATTGCAGTGTCATTTATAGATCCCTAA c.2277
G L P V K N G T R Y I A V S F I D P X p.758
. . . . . . g.95839
gttatttacttttcattgaattgaaatttattttggatgaatgactggcatgaacacgtc c.*60
. . . . . . g.95899
tttgaagttgtggctgagaagatgagaggaatatttaaataacatcaacagaacaacttc c.*120
. . . . . . g.95959
actttgggccaaacatttgaaaaactttttataaaaaattgtttgatatttcttaatgtc c.*180
. . . . . . g.96019
tgctctgagccttaaaacacagattgaagaagaaaagaaagaaaaaacttaaatatttat c.*240
. . . . . . g.96079
ttctatgctttgttgcctctgagaataatgacaatttatgaatttgtgtttcaaattgat c.*300
. . . . . . g.96139
aaaatatttaggtacaaataacaagactaataatattttcttatttaaaaaaagcatggg c.*360
. . . . . . g.96199
aagatttttatttatcaaaatatagaggaaatgtagacaaaatggatataaatgaaaatt c.*420
. . . . . . g.96259
accatgttgtaaaaccttgaaaatcagattctaactggatttgtatgcaactaagtattt c.*480
. . . . . . g.96319
ttctgaacacctatgcaggtcttatttacagtagttactaagggaacacacaaagaatta c.*540
. . . . . . g.96379
cacaacgttttcctcaagaaaatggtacaaaacacaaccgaggagcgtatacagttgaaa c.*600
. . . . . . g.96439
acatttttgttttgattggaaggcagattattttatattagtattaaaaatcaaacccta c.*660
. . . . . . g.96499
tgtttctttcagatgaatcttccaaagtggattatattaagcaggtattagatttaggaa c.*720
. . . . . . g.96559
aacctttccatttcttaaagtattatcaagtgtcaagatcagcaagtgtccttaagtcaa c.*780
. . . . . . g.96619
acaggttttttttgttgttgtttttgctttgtttccttttttagaaagttctagaaaata c.*840
. . . . . . g.96679
ggaaaacgaaaaatttcattgagatgagtagtgcatttaattattttttaaaaaactttt c.*900
. . . . . . g.96739
taagtacttgaattttatatcaggaaaacaaagttgttgagccttgcttcttccgttttg c.*960
. . . . . . g.96799
ccctttgtctcgctccttattctttttttggggggagggttatttgcttttttatcttcc c.*1020
. . . . . . g.96859
tggcataatttccattttattcttctgagtgtctatgttaacttccctctatcccgctta c.*1080
. . . . . . g.96919
taaaaaaattctccaacaaaaatacttgttgacttgatgttttatcacttctctaagtaa c.*1140
. . . . . . g.96979
ggttgaaatatccttattgtagctactgtttttaatgtaaaggttaaacttgaaaagaaa c.*1200
. . . . . . g.97039
ttcttaatcacggtgccaaaattcattttctaacaccatgtgttagaaaattataaaaaa c.*1260
. g.97056
taaaataattttagaaa c.*1277
(downstream sequence)
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