(used for variant description)
(last modified October 9, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_004560.3 in the ROR2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008089.1, covering ROR2 transcript NM_004560.3.
(upstream sequence)
. g.5019
agccagcccttgccgtggc c.-181
. . . . . . g.5079
cggagccgagcggcgcatccgggccggagaagaggacgacgacgaggtcctcgaagtgga c.-121
. . . . . . g.5139
cccgtttgcgaagcgccagggagaaggaggagcggacgcatcgtagaaaggggtggtggc c.-61
. . . . . . g.5199
gcccgaccccgcgccccggcccgaagctctgagggcttcccggcccccactgcctgcggc c.-1
. . . . . . g.5259
ATGGCCCGGGGCTCGGCGCTCCCGCGGCGGCCGCTGCTGTGCATCCCGGCCGTCTGGGCG c.60
M A R G S A L P R R P L L C I P A V W A p.20
. . . | 02. . . g.179367
GCCGCCGCGCTTCTGCTCTCAGTGTCCCGGACTTCAG | GTGAAGTGGAGGTTCTGGATCCG c.120
A A A L L L S V S R T S G | E V E V L D P p.40
. . . . . | 03 . g.197608
AACGACCCTTTAGGACCCCTTGATGGGCAGGACGGCCCGATTCCAACTCTGAAAG | GTTAC c.180
N D P L G P L D G Q D G P I P T L K G | Y p.60
. . . . . . g.197668
TTTCTGAATTTTCTGGAGCCAGTAAACAATATCACCATTGTCCAAGGCCAGACGGCAATT c.240
F L N F L E P V N N I T I V Q G Q T A I p.80
. . . . . . g.197728
CTGCACTGCAAGGTGGCAGGAAACCCACCCCCTAACGTGCGGTGGCTAAAGAATGATGCC c.300
L H C K V A G N P P P N V R W L K N D A p.100
. . . . . . g.197788
CCGGTGGTGCAGGAGCCGCGGCGGATCATCATCCGGAAGACAGAATATGGTTCACGACTG c.360
P V V Q E P R R I I I R K T E Y G S R L p.120
. . . . . . g.197848
CGAATCCAGGACCTGGACACGACAGACACTGGCTACTACCAGTGCGTGGCCACCAACGGG c.420
R I Q D L D T T D T G Y Y Q C V A T N G p.140
. . . . | 04 . . g.199078
ATGAAGACCATTACCGCCACTGGCGTCCTGTTTGTGCGGCTGG | GTCCAACGCACAGCCCA c.480
M K T I T A T G V L F V R L G | P T H S P p.160
. | 05 . . . . . g.217690
AATCATAACTTTCA | GGATGATTACCACGAGGATGGGTTCTGCCAGCCTTACCGGGGAATT c.540
N H N F Q | D D Y H E D G F C Q P Y R G I p.180
. . . . . . g.217750
GCCTGTGCACGCTTCATTGGCAACCGGACCATTTATGTGGACTCGCTTCAGATGCAGGGG c.600
A C A R F I G N R T I Y V D S L Q M Q G p.200
. . | 06 . . . . g.221764
GAGATTGAAAACCGAATCACAG | CGGCCTTCACCATGATCGGCACGTCTACGCACCTGTCG c.660
E I E N R I T A | A F T M I G T S T H L S p.220
. . . . . . g.221824
GACCAGTGCTCACAGTTCGCCATCCCATCCTTCTGCCACTTCGTGTTTCCTCTGTGCGAC c.720
D Q C S Q F A I P S F C H F V F P L C D p.240
. . . . . . g.221884
GCGCGCTCCCGGACACCCAAGCCGCGTGAGCTGTGCCGCGACGAGTGCGAGGTGCTGGAG c.780
A R S R T P K P R E L C R D E C E V L E p.260
. . . . . . g.221944
AGCGACCTGTGCCGCCAGGAGTACACCATCGCCCGCTCCAACCCGCTCATCCTCATGCGG c.840
S D L C R Q E Y T I A R S N P L I L M R p.280
. . . . . . g.222004
CTTCAGCTGCCCAAGTGTGAGGCGCTGCCCATGCCTGAGAGCCCCGACGCTGCCAACTGC c.900
L Q L P K C E A L P M P E S P D A A N C p.300
. . . | 07. . . g.224030
ATGCGCATTGGCATCCCAGCCGAGAGGCTGGGCCGCT | ACCATCAGTGCTATAACGGCTCA c.960
M R I G I P A E R L G R Y | H Q C Y N G S p.320
. . . . . . g.224090
GGCATGGATTACAGAGGAACGGCAAGCACCACCAAGTCAGGCCACCAGTGCCAGCCGTGG c.1020
G M D Y R G T A S T T K S G H Q C Q P W p.340
. . . . . . g.224150
GCCCTGCAGCACCCCCACAGCCACCACCTGTCCAGCACAGACTTCCCTGAGCTTGGAGGG c.1080
A L Q H P H S H H L S S T D F P E L G G p.360
. . . . . . g.224210
GGGCACGCCTACTGCCGGAACCCCGGAGGCCAGATGGAGGGCCCCTGGTGCTTTACGCAG c.1140
G H A Y C R N P G G Q M E G P W C F T Q p.380
. . . . | 08 . . g.228436
AATAAAAACGTACGCATGGAACTGTGTGACGTACCCTCGTGTA | GTCCCCGAGACAGCAGC c.1200
N K N V R M E L C D V P S C S | P R D S S p.400
. . . . . . g.228496
AAGATGGGGATTCTGTACATCTTGGTCCCCAGCATCGCAATTCCACTGGTCATCGCTTGC c.1260
K M G I L Y I L V P S I A I P L V I A C p.420
. . . . . . g.228556
CTTTTCTTCTTGGTTTGCATGTGCCGGAATAAGCAGAAGGCATCTGCGTCCACACCGCAG c.1320
L F F L V C M C R N K Q K A S A S T P Q p.440
. . . . . . g.228616
CGGCGACAGCTGATGGCCTCGCCCAGCCAAGACATGGAAATGCCCCTCATTAACCAGCAC c.1380
R R Q L M A S P S Q D M E M P L I N Q H p.460
| 09 . . . . . . g.230109
AAACAG | GCCAAACTCAAAGAGATCAGCCTGTCTGCGGTGAGGTTCATGGAGGAGCTGGGA c.1440
K Q | A K L K E I S L S A V R F M E E L G p.480
. . . . . . g.230169
GAGGACCGGTTTGGGAAAGTCTACAAAGGTCACCTGTTCGGCCCTGCCCCGGGGGAGCAG c.1500
E D R F G K V Y K G H L F G P A P G E Q p.500
. . . . . . g.230229
ACCCAGGCTGTGGCCATCAAAACGCTGAAGGACAAAGCGGAGGGGCCCCTGCGGGAGGAG c.1560
T Q A V A I K T L K D K A E G P L R E E p.520
. . . . . . g.230289
TTCCGGCATGAGGCTATGCTGCGAGCACGGCTGCAACACCCCAACGTCGTCTGCCTGCTG c.1620
F R H E A M L R A R L Q H P N V V C L L p.540
. . . . . . g.230349
GGCGTGGTGACCAAGGACCAGCCCCTGAGCATGATCTTCAGCTACTGTTCGCACGGCGAC c.1680
G V V T K D Q P L S M I F S Y C S H G D p.560
. . . . . . g.230409
CTCCACGAATTCCTGGTCATGCGCTCGCCGCACTCGGACGTGGGCAGCACCGATGATGAC c.1740
L H E F L V M R S P H S D V G S T D D D p.580
. . . . . . g.230469
CGCACGGTGAAGTCCGCCCTGGAGCCCCCCGACTTCGTGCACCTTGTGGCACAGATCGCG c.1800
R T V K S A L E P P D F V H L V A Q I A p.600
. . . . . . g.230529
GCGGGGATGGAGTACCTATCCAGCCACCACGTGGTTCACAAGGACCTGGCCACCCGCAAT c.1860
A G M E Y L S S H H V V H K D L A T R N p.620
. . . . . . g.230589
GTGCTAGTGTACGACAAGCTGAACGTGAAGATCTCAGACTTGGGCCTCTTCCGAGAGGTG c.1920
V L V Y D K L N V K I S D L G L F R E V p.640
. . . . . . g.230649
TATGCCGCCGATTACTACAAGCTGCTGGGGAACTCGCTGCTGCCTATCCGCTGGATGGCC c.1980
Y A A D Y Y K L L G N S L L P I R W M A p.660
. . . . . . g.230709
CCAGAGGCCATCATGTACGGCAAGTTCTCCATCGACTCAGACATCTGGTCCTACGGTGTG c.2040
P E A I M Y G K F S I D S D I W S Y G V p.680
. . . . . . g.230769
GTCCTGTGGGAGGTCTTCAGCTACGGCCTGCAGCCCTACTGCGGGTACTCCAACCAGGAT c.2100
V L W E V F S Y G L Q P Y C G Y S N Q D p.700
. . . . . . g.230829
GTGGTGGAGATGATCCGGAACCGGCAGGTGCTGCCTTGCCCCGATGACTGTCCCGCCTGG c.2160
V V E M I R N R Q V L P C P D D C P A W p.720
. . . . . . g.230889
GTGTATGCCCTCATGATCGAGTGCTGGAACGAGTTCCCCAGCCGGCGGCCCCGCTTCAAG c.2220
V Y A L M I E C W N E F P S R R P R F K p.740
. . . . . . g.230949
GACATCCACAGCCGGCTCCGAGCCTGGGGCAACCTTTCCAACTACAACAGCTCGGCGCAG c.2280
D I H S R L R A W G N L S N Y N S S A Q p.760
. . . . . . g.231009
ACCTCGGGGGCCAGCAACACCACGCAGACCAGCTCCCTGAGCACCAGCCCAGTGAGCAAT c.2340
T S G A S N T T Q T S S L S T S P V S N p.780
. . . . . . g.231069
GTGAGCAACGCCCGCTACGTGGGGCCCAAGCAGAAGGCCCCGCCCTTCCCACAGCCCCAG c.2400
V S N A R Y V G P K Q K A P P F P Q P Q p.800
. . . . . . g.231129
TTCATCCCCATGAAGGGCCAGATCAGACCCATGGTGCCCCCGCCGCAGCTCTACGTCCCC c.2460
F I P M K G Q I R P M V P P P Q L Y V P p.820
. . . . . . g.231189
GTCAACGGCTACCAGCCGGTGCCGGCCTATGGGGCCTACCTGCCCAACTTCTACCCGGTG c.2520
V N G Y Q P V P A Y G A Y L P N F Y P V p.840
. . . . . . g.231249
CAGATCCCAATGCAGATGGCCCCGCAGCAGGTGCCTCCTCAGATGGTCCCCAAGCCCAGC c.2580
Q I P M Q M A P Q Q V P P Q M V P K P S p.860
. . . . . . g.231309
TCACACCACAGTGGCAGTGGCTCCACCAGCACAGGCTACGTCACCACGGCCCCCTCCAAC c.2640
S H H S G S G S T S T G Y V T T A P S N p.880
. . . . . . g.231369
ACATCCATGGCAGACAGGGCAGCCCTGCTCTCAGAGGGCGCTGATGACACACAGAACGCC c.2700
T S M A D R A A L L S E G A D D T Q N A p.900
. . . . . . g.231429
CCAGAAGATGGGGCCCAGAGCACCGTGCAGGAAGCAGAGGAGGAGGAGGAAGGCTCTGTC c.2760
P E D G A Q S T V Q E A E E E E E G S V p.920
. . . . . . g.231489
CCAGAGACTGAGCTGCTGGGGGACTGTGACACTCTGCAGGTGGACGAGGCCCAAGTCCAG c.2820
P E T E L L G D C D T L Q V D E A Q V Q p.940
. g.231501
CTGGAAGCTTGA c.2832
L E A X p.943
. . . . . . g.231561
gtggcaccagggcccggggttcggggatagaagccccgccgagaccccacagggacctca c.*60
. . . . . . g.231621
gtcacctttgagaagacaccatactcagcaatcacaagagcccgccggccagtgggcttg c.*120
. . . . . . g.231681
tttgcagactgggtgaggtggagccctgctcctctctgtcctctgacacagagagctgcc c.*180
. . . . . . g.231741
ctgcctaggagcacccaagccaggcagggggtctggcagcacggcgtcctggggagcagg c.*240
. . . . . . g.231801
acacatggtcatccccagggctgtatacattgattctggtggtagactggtagtgagcag c.*300
. . . . . . g.231861
caaatgcctttcaagaaaataggtggcagcttcactccatgtcatatatggagtgaatat c.*360
. . . . . . g.231921
ttcaaaacgttgggaataagggcctgcaaaaggcagcgaggaggcacctcgggtcttgag c.*420
. . . . . . g.231981
gttcctgacaaccgatctggtctgttggtttgaggatgaaggggctccatttctgctgcc c.*480
. . . . . . g.232041
tccctgctgagaatattctccctttagcagccaaagattcgctggaacggaggctgccct c.*540
. . . . . . g.232101
ctgctgcctgttggggtcggaagacaaggggcttctgaaatgggagttcctgagatacaa c.*600
. . . . . . g.232161
caaaatgtgtgccttcaaagaaactgacagctttgtatttggtgaaatggttttaattat c.*660
. . . . . . g.232221
actccatgtgtattttgcccactttttttgggaattcaagggaaagtgtttcttgggttt c.*720
. . . . . . g.232281
ggaatgttcagaggaagcagtattgtacagaacacggtattgttatttttgttaagaatc c.*780
. . . . . . g.232341
atgtacagagcttaaatgtaatttatatgtttttaatatgccattttcattgaagtattt c.*840
. . . . . . g.232401
tggtcttaagatgactttagtaatttaactgtttatgttacccacgttgggatccagttg c.*900
. . . . . . g.232461
gtcttggtttgcttctctctgtaccacgtgcacatgaggtccattcattttacagcccct c.*960
. . . . . . g.232521
gttacacacagacccacaggcagccgtctgtgccccgcacacattgttggtcctatttgt c.*1020
. . . . g.232567
aaatcccacacccggtgtatccaataaagtgaaacaaagcatgtga c.*1066
(downstream sequence)
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