(used for variant description)
(last modified November 6, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_014244.4 in the ADAMTS2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_023212.3, covering ADAMTS2 transcript NM_014244.4.
(upstream sequence)
. . . . g.5042
agctgcgggcggctccagctgcccccagatgtgggctgggcg c.-61
. . . . . . g.5102
gctcgcggggaactttcgcgccggctgcgagtgcggggccccggctgcagtccggctgcc c.-1
. . . . . . g.5162
ATGGATCCGCCGGCGGGAGCCGCTCGCCGCCTGCTCTGCCCCGCGCTGCTGCTGCTGCTG c.60
M D P P A G A A R R L L C P A L L L L L p.20
. . . . . . g.5222
CTGCTGCTGCCGCCGCCGCTCCTGCCGCCGCCGCCGCCGCCCGCGAACGCCAGGCTCGCC c.120
L L L P P P L L P P P P P P A N A R L A p.40
. | 02 . . . . g.6310
GCCGCCGCCGACCCCCCAG | GCGGGCCCCTGGGGCACGGAGCGGAGCGCATCCTGGCGGTG c.180
A A A D P P G | G P L G H G A E R I L A V p.60
. . . . . . g.6370
CCCGTGCGCACTGACGCCCAGGGCCGCTTGGTGTCCCACGTGGTGTCGGCAGCTACGTCC c.240
P V R T D A Q G R L V S H V V S A A T S p.80
. . . . . . g.6430
AGAGCAGGGGTACGAGCCCGCAGGGCCGCCCCGGTCCGGACCCCGAGCTTCCCCGGAGGC c.300
R A G V R A R R A A P V R T P S F P G G p.100
. . . . . . g.6490
AACGAGGAGGAGCCTGGCAGTCACCTCTTCTACAATGTCACGGTCTTTGGCCGAGACCTG c.360
N E E E P G S H L F Y N V T V F G R D L p.120
. . . . . . g.6550
CACCTGCGGCTGCGGCCCAACGCCCGCCTCGTGGCGCCCGGGGCCACTATGGAGTGGCAG c.420
H L R L R P N A R L V A P G A T M E W Q p.140
. . . . . . g.6610
GGCGAGAAGGGCACCACCCGCGTGGAGCCCCTGCTCGGGAGCTGTCTCTACGTCGGAGAC c.480
G E K G T T R V E P L L G S C L Y V G D p.160
. . . . . | 03 . g.77372
GTGGCCGGCCTAGCCGAAGCCTCCTCTGTGGCGCTCAGCAACTGCGATGGGCTG | GCTGGT c.540
V A G L A E A S S V A L S N C D G L | A G p.180
. . . . . . g.77432
CTGATCCGGATGGAGGAGGAGGAGTTCTTCATCGAACCCTTGGAGAAGGGGCTGGCGGCG c.600
L I R M E E E E F F I E P L E K G L A A p.200
. . . . . . g.77492
CAGGAGGCTGAGCAAGGCCGTGTGCATGTGGTGTATCGCCGGCCACCCACGTCCCCTCCT c.660
Q E A E Q G R V H V V Y R R P P T S P P p.220
. . | 04 . . . g.142747
CTCGGGGGGCCACAGGCCCTGGACACAG | GGGCCTCCCTGGACAGCCTGGACAGCCTCAGC c.720
L G G P Q A L D T G | A S L D S L D S L S p.240
. . . . . . g.142807
CGCGCCCTGGGCGTCCTAGAGGAGCACGCCAACAGCTCGAGGCGGAGGGCACGCAGGCAT c.780
R A L G V L E E H A N S S R R R A R R H p.260
. . . . . . g.142867
GCTGCGGACGATGACTACAACATCGAGGTCCTGCTGGGCGTGGATGACTCTGTGGTGCAG c.840
A A D D D Y N I E V L L G V D D S V V Q p.280
. . . . . | 05 . g.169284
TTCCACGGGAAGGAGCACGTACAGAAGTACCTGCTGACACTCATGAACATT | GTCAATGAA c.900
F H G K E H V Q K Y L L T L M N I | V N E p.300
. . . . . . g.169344
ATCTACCATGACGAGTCCTTGGGTGCCCACATCAACGTGGTCCTGGTGCGGATCATCCTC c.960
I Y H D E S L G A H I N V V L V R I I L p.320
. | 06 . . . . . g.191596
CTGAGCTATGGAAAG | TCCATGAGCCTCATCGAGATCGGGAACCCCTCTCAGAGCCTGGAG c.1020
L S Y G K | S M S L I E I G N P S Q S L E p.340
. . . . . . g.191656
AATGTCTGCCGCTGGGCCTACCTCCAGCAGAAGCCAGACACGGGCCACGATGAATACCAC c.1080
N V C R W A Y L Q Q K P D T G H D E Y H p.360
. . . . . | 07 . g.195519
GATCACGCCATCTTCCTCACACGGCAGGACTTTGGGCCTTCCGGCATGCAAG | GCTATGCT c.1140
D H A I F L T R Q D F G P S G M Q G | Y A p.380
. . . . . . g.195579
CCTGTCACCGGCATGTGCCATCCGGTCCGCAGCTGCACCCTGAACCATGAGGACGGCTTC c.1200
P V T G M C H P V R S C T L N H E D G F p.400
. . . | 08 . . g.196260
TCCTCAGCGTTTGTGGTGGCCCATGAGACTGGCCACGT | GCTGGGCATGGAGCACGACGGG c.1260
S S A F V V A H E T G H V | L G M E H D G p.420
. . . . . . g.196320
CAGGGCAACCGCTGTGGCGACGAGGTGCGGCTGGGCAGCATCATGGCGCCCCTGGTGCAG c.1320
Q G N R C G D E V R L G S I M A P L V Q p.440
. . . . . . g.196380
GCCGCCTTCCACCGCTTCCACTGGTCCCGCTGCAGCCAGCAGGAGCTGAGCCGCTACCTG c.1380
A A F H R F H W S R C S Q Q E L S R Y L p.460
| 09 . . . . . . g.196865
CA | CTCCTATGACTGCCTGCTGGATGACCCCTTCGCCCACGACTGGCCGGCGCTGCCCCAG c.1440
H | S Y D C L L D D P F A H D W P A L P Q p.480
. . . . . . g.196925
CTCCCGGGACTGCACTACTCCATGAACGAGCAATGCCGCTTTGACTTCGGCCTGGGCTAC c.1500
L P G L H Y S M N E Q C R F D F G L G Y p.500
. | 10 . . . . . g.198220
ATGATGTGCACGGCG | TTCCGGACCTTTGACCCCTGCAAGCAGCTGTGGTGCAGCCATCCT c.1560
M M C T A | F R T F D P C K Q L W C S H P p.520
. . . . . . g.198280
GACAACCCCTACTTTTGCAAGACCAAGAAGGGGCCCCCCTTGGACGGGACTATGTGTGCA c.1620
D N P Y F C K T K K G P P L D G T M C A p.540
| 11 . . . . . g.210446
CCTGGCAAG | CATTGTTTTAAAGGACACTGCATCTGGCTGACACCTGACATCCTCAAACGG c.1680
P G K | H C F K G H C I W L T P D I L K R p.560
. . . . . . g.210506
GACGGCAGCTGGGGCGCTTGGAGTCCGTTTGGCTCCTGCTCACGTACCTGTGGCACGGGC c.1740
D G S W G A W S P F G S C S R T C G T G p.580
. . . | 12 . . . g.212511
GTGAAGTTCAGGACCCGCCAGTGTGACAACCCACA | CCCGGCCAACGGGGGCCGCACCTGC c.1800
V K F R T R Q C D N P H | P A N G G R T C p.600
. . . . . . g.212571
TCGGGCCTTGCCTACGACTTCCAGCTCTGCAGCCGCCAGGACTGCCCCGACTCCCTGGCT c.1860
S G L A Y D F Q L C S R Q D C P D S L A p.620
. . . . . . g.212631
GACTTCCGCGAGGAGCAGTGCCGCCAGTGGGACCTGTACTTCGAGCACGGCGACGCCCAG c.1920
D F R E E Q C R Q W D L Y F E H G D A Q p.640
. . . | 13 . . . g.214417
CACCACTGGCTGCCCCACGAGCACCGGGATG | CCAAGGAGAGATGCCACCTGTACTGCGAG c.1980
H H W L P H E H R D A | K E R C H L Y C E p.660
. . . . . . g.214477
TCCAGGGAGACCGGGGAGGTGGTGTCCATGAAGCGCATGGTGCATGACGGGACGCGCTGC c.2040
S R E T G E V V S M K R M V H D G T R C p.680
. . . . | 14 . . g.217545
TCCTACAAGGACGCCTTCAGCCTCTGTGTGCGCGGGGACTGCAGG | AAGGTGGGCTGTGAC c.2100
S Y K D A F S L C V R G D C R | K V G C D p.700
. . . . . . g.217605
GGTGTGATCGGCTCCAGCAAGCAGGAAGACAAGTGTGGCGTGTGCGGAGGGGACAACAGC c.2160
G V I G S S K Q E D K C G V C G G D N S p.720
. . . . | 15 . g.218131
CACTGCAAAGTGGTCAAGGGCACGTTCACACGGTCACCCAAGAAGCATG | GTTACATCAAG c.2220
H C K V V K G T F T R S P K K H G | Y I K p.740
. . . . . . g.218191
ATGTTTGAGATCCCTGCAGGAGCCAGACACCTGCTCATTCAGGAGGTAGACGCCACCAGC c.2280
M F E I P A G A R H L L I Q E V D A T S p.760
. | 16 . . . . . g.220382
CACCATCTGG | CCGTCAAGAACCTGGAGACAGGCAAGTTCATCTTAAATGAAGAGAATGAC c.2340
H H L A | V K N L E T G K F I L N E E N D p.780
. . . . . . g.220442
GTGGATGCCAGTTCCAAAACCTTCATTGCCATGGGCGTGGAGTGGGAGTACAGAGACGAG c.2400
V D A S S K T F I A M G V E W E Y R D E p.800
. . . . . | 17. g.222315
GACGGCCGGGAGACGCTGCAGACCATGGGCCCCCTCCACGGCACCATCACCGTTCTG | GTC c.2460
D G R E T L Q T M G P L H G T I T V L | V p.820
. . . . . . g.222375
ATCCCGGTGGGAGACACCCGGGTCTCACTGACGTACAAATACATGATCCATGAGGACTCA c.2520
I P V G D T R V S L T Y K Y M I H E D S p.840
. . . . . . g.222435
CTGAATGTCGACGACAACAACGTCCTGGAAGAGGACTCTGTGGTCTACGAGTGGGCCCTG c.2580
L N V D D N N V L E E D S V V Y E W A L p.860
. . . | 18. . . g.224323
AAGAAGTGGTCTCCGTGCTCCAAGCCCTGTGGCGGAG | GGTCCCAGTTCACCAAGTATGGC c.2640
K K W S P C S K P C G G G | S Q F T K Y G p.880
. . . . . . g.224383
TGCCGCCGGAGGCTGGACCACAAGATGGTACACCGTGGCTTCTGTGCCGCCCTCTCGAAG c.2700
C R R R L D H K M V H R G F C A A L S K p.900
. . . . . | 19 . g.225260
CCCAAAGCCATCCGCAGAGCGTGCAACCCACAGGAATGCTCCCAGCCAGT | GTGGGTCACA c.2760
P K A I R R A C N P Q E C S Q P V | W V T p.920
. . . . . . g.225320
GGCGAATGGGAGCCATGTAGCCAGACCTGTGGGCGGACAGGCATGCAGGTGCGCTCCGTG c.2820
G E W E P C S Q T C G R T G M Q V R S V p.940
. . . . . . g.225380
CGCTGCATTCAGCCGCTACACGACAACACCACCCGCTCCGTGCACGCCAAGCACTGCAAT c.2880
R C I Q P L H D N T T R S V H A K H C N p.960
. . . . . . g.225440
GACGCCCGGCCCGAGAGCCGCCGGGCCTGCAGCCGCGAGCTCTGCCCTGGTCGTTGGCGA c.2940
D A R P E S R R A C S R E L C P G R W R p.980
. | 20 . . . . g.227699
GCCGGGCCCTGGTCCCAG | TGCTCAGTAACCTGTGGCAACGGCACCCAGGAGCGGCCAGTG c.3000
A G P W S Q | C S V T C G N G T Q E R P V p.1000
. . . . . . g.227759
CTCTGCCGCACCGCGGACGACAGCTTCGGCATCTGCCAGGAGGAGCGTCCTGAGACAGCG c.3060
L C R T A D D S F G I C Q E E R P E T A p.1020
. . | 21 . . . g.228712
AGGACCTGCAGGCTTGGCCCCTGTCCCC | GAAACATCTCAGATCCCTCCAAGAAGAGCTAC c.3120
R T C R L G P C P R | N I S D P S K K S Y p.1040
. . . . . | 22 g.236108
GTAGTTCAGTGGCTGTCCCGCCCGGACCCCGACTCGCCCATCCGGAAGATCTCGTCAA | AG c.3180
V V Q W L S R P D P D S P I R K I S S K | p.1060
. . . . . . g.236168
GGCCACTGCCAAGGCGACAAGTCAATATTCTGTAGGATGGAAGTCTTGTCCCGCTATTGC c.3240
G H C Q G D K S I F C R M E V L S R Y C p.1080
. . . . . . g.236228
TCCATCCCAGGCTACAACAAGCTGTGCTGCAAGTCCTGTAACCTGTACAACAACCTCACC c.3300
S I P G Y N K L C C K S C N L Y N N L T p.1100
. . . . . . g.236288
AACGTGGAGGGCAGGATAGAGCCACCGCCTGGGAAGCACAACGACATTGACGTGTTCATG c.3360
N V E G R I E P P P G K H N D I D V F M p.1120
. . . . . . g.236348
CCTACCCTCCCAGTGCCCACTGTAGCCATGGAGGTGCGGCCATCACCAAGCACCCCCCTG c.3420
P T L P V P T V A M E V R P S P S T P L p.1140
. . . . . . g.236408
GAGGTCCCTCTCAATGCCTCCAGCACCAATGCCACAGAGGATCACCCAGAAACCAATGCC c.3480
E V P L N A S S T N A T E D H P E T N A p.1160
. . . . . . g.236468
GTAGATGAACCCTACAAAATCCATGGCCTGGAAGATGAAGTCCAGCCACCCAACCTAATC c.3540
V D E P Y K I H G L E D E V Q P P N L I p.1180
. . . . . . g.236528
CCTCGACGACCGAGCCCCTATGAAAAGACCAGAAACCAAAGAATCCAAGAGCTCATTGAT c.3600
P R R P S P Y E K T R N Q R I Q E L I D p.1200
. . . g.236564
GAGATGCGGAAGAAAGAGATGCTCGGAAAGTTCTAA c.3636
E M R K K E M L G K F X p.1211
. . . . . . g.236624
taaaatggaaagatagcatccctagcatttttttcttgcttatagagatattccatggga c.*60
. . . . . . g.236684
tagcaaatcctgtgtcatggagatgaagtcaaaattcctgattccaaaaggttttgagaa c.*120
. . . . . . g.236744
aacaaagagggggaatgacgtaagaaagataggcatgagcatgtggtaactaggttagca c.*180
. . . . . . g.236804
cgtgtgcttcccagcccaggagcgaccaaatactgtggtggcgtcaggtgtgcagtggag c.*240
. . . . . . g.236864
aggaatatagaggctgtatggcctccctcagtgagggcagggcaagagggatcactctga c.*300
. . . . . . g.236924
gagaacaaaaataggccccaagttgctaagcagtgattgggaaccttcctttccttggcg c.*360
. . . . . . g.236984
gagatgcatgacattccctaccgatccccagacacagcctgtgggactcttaggagaaat c.*420
. . . . . . g.237044
ggtgatttactgaataactgacccgttgccgagatgagtacaatgaagtggaggtgatga c.*480
. . . . . . g.237104
actcaaatcgtcttccagggccaggcggctgaccggggtgagcgtagtggcccgctgggg c.*540
. . . . . . g.237164
accatggccgccctgacagccacacccacctggagctgacttggttctggctgttgctgc c.*600
. . . . . . g.237224
cactgtgaaatctgtatctctctccatctctgctctactatccccggccttgccagacag c.*660
. . . . . . g.237284
tgttctttttcggaagaagtctagatttttgcatgaaaaaaactcaatctttaaaggtcg c.*720
. . . . . . g.237344
actcagaacattttaaggaggcctccacttggtctgatgcagtcttgctaattaagaact c.*780
. . . . . . g.237404
aaaggccttctgaccttcttggtgctcatgctgtacggcatctgaatgtctcgaccgagt c.*840
. . . . . . g.237464
ctgagccgtgcagctgtcctccacctgcgaaagtaatgagaatcctatcacgggacataa c.*900
. . . . . . g.237524
ggataggtctaaacagggtccatgccaagaaaacagtggggtgctctcccaggcctctcc c.*960
. . . . . . g.237584
cctgtccactaaccctggccttgccggctgccttccaggctctgggggaagagctcctgc c.*1020
. . . . . . g.237644
attcttccctggccaccttggctccagggctccccagagagcctcttccctccccaagta c.*1080
. . . . . . g.237704
cctgagaaagatgagagaggcacgtgctctgctgggaaggtccagtgagcggttcaaggg c.*1140
. . . . . . g.237764
cctggaatctccctacggccaagtctaagggttctgggattctgggctttgtgggctttg c.*1200
. . . . . . g.237824
cttgcttgctgggaatgggctttccctgtcccgccctgccccacctcgcctctgtctctc c.*1260
. . . . . . g.237884
agaagctccagaacccagcagtgacctgcaaaatgtggcctctgatgggggcttagggtg c.*1320
. . . . . . g.237944
ggagatggggagagcctacattgtcttttgctccttgaaaactttaatagctcctatttt c.*1380
. . . . . . g.238004
ccagagaatggtgctttgtgagcaacatgcgagtaagagagaaataggaggaagggggag c.*1440
. . . . . . g.238064
taggggcggatgggagaagagtggctcatttttacctctcactgccttgacattttgtga c.*1500
. . . . . . g.238124
acgtgaagcttaaactttctgggcttacaagacccaggggcacgtcagctccttagatgg c.*1560
. . . . . . g.238184
gctcagcctgacacataattcttaaacctttcctgtttaagaaacttctagaggctgtgt c.*1620
. . . . . . g.238244
actctcaccaatcctcttcgagaatttgttcatgtgtatttccccattatatggatgagg c.*1680
. . . . . . g.238304
ctcaggataacagcatagtggctaccttctactgagttttgaggtgctaataagtatgtt c.*1740
. . . . . . g.238364
tgtctgaggctgcacatgtgggtggctctgtgtgtatgatccaagggacaaaatgacgat c.*1800
. . . . . . g.238424
gtaggaaccagcaagaacggaatctgggctgatgcttcagtctccacctgggtgatggct c.*1860
. . . . . . g.238484
agcctcccgccctccaccaccgcatcccacacgtgctgcgcactgtccccgtgtctcctg c.*1920
. . . . . . g.238544
gagaaccaaactggagaaaacctttctgagtatctctcatagtaccccttccttaagaag c.*1980
. . . . . . g.238604
atgtggtttagagcatgtgtgcaatcctgcctctgtaattaggaaacggagcccgaggct c.*2040
. . . . . . g.238664
ttccattgttggttgaacccaggacagctggtgctattcacaggctgaagaactgggcag c.*2100
. . . . . . g.238724
ttcttacttgggtctgtcctaggatgtggaggaagttcaggactaacgctaggcagagag c.*2160
. . . . . . g.238784
tatgactcggtttacccagcctaggggcctctggatgggaacactccattccaagatctc c.*2220
. . . . . . g.238844
agcagagcagggcttcctggcttgaggctggaagcctttgggaagaggcccagctgggac c.*2280
. . . . . . g.238904
attccctgggcacctgtcttccgctgaagggagcaaggtgccctctgggactgacagcca c.*2340
. . . . . . g.238964
tgaccctctgtgccatcctcaatccttgagccatatatcaagagtcctctagagccggat c.*2400
. . . . . . g.239024
ggtcctcaaaagtctgtccaaggaatgccaacgttcaccgggctctgagaaacgacgcaa c.*2460
. . . . . . g.239084
atctctgagctggggaccacttggagaaccggcttagtaacagtcctgatcttcgcaagc c.*2520
. . . . . . g.239144
cagcttcttctgcatctgaggggctcctggcgcccagaggaggcagacagatgtcttcta c.*2580
. . . . . . g.239204
gctgagtttctaaccgcatgatgagactcagaccttccgctgcactagaaaatctgcaac c.*2640
. . . . . . g.239264
agtgtccctgagtcacttctccttagtgggcagactcgtgttagatttgtggaacccagc c.*2700
. . . . . . g.239324
tctctgatttactccttttggaaaacccatggaatttcatgtataaggctttcatttgta c.*2760
. . . . . . g.239384
ttttaaggtttttctgtttgttttgagtatatacatggtgctcaatagcaacatcttagc c.*2820
. . . . . . g.239444
agatgaagcagtttatgattccactccctcctgtatgacaggtagccactatactgaatc c.*2880
. . . . . . g.239504
aaggtgctgaactcaaatcacaaaattctggcttaccgatacaacaaccaatacatcttt c.*2940
. . . . . . g.239564
gttctgtaatgtaaaatttgactccttacttttataacttattaaagttaaaatgtctgt c.*3000
. g.239580
gtttttgcaaatcatg c.*3016
(downstream sequence)
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