(used for variant description)
(last modified March 13, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_080680.2 in the COL11A2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_011589.1, covering COL11A2 transcript NM_080680.2.
(upstream sequence)
. . . . g.5048
cacacagaagcggcagccaccgaggagggagcagtgccgggagccccg c.-181
. . . . . . g.5108
acggcgccttgctgcatggagctgggccgctgacagctgtcgctgcccgcagcctctgac c.-121
. . . . . . g.5168
ctccctgggaccccggcgtctgaggctcatagtctgctccctgtcttctgtcagcctcag c.-61
. . . . . . g.5228
ggcatccagcgtctcaggccgacctgggtccctgggacccggcgtttcggcttctcagcc c.-1
. . . . . . g.5288
ATGGAGCGGTGCAGCCGCTGCCATCGCCTCCTCCTCCTCCTACCTCTGGTGCTGGGGCTG c.60
M E R C S R C H R L L L L L P L V L G L p.20
. . | 02 . . . . g.8037
AGCGCGGCCCCAGGCTGGGCAG | GTGCACCCCCTGTGGATGTGCTCCGGGCCCTGAGGTTC c.120
S A A P G W A G | A P P V D V L R A L R F p.40
. . . . . . g.8097
CCCTCCCTCCCTGATGGTGTCCGGAGAGCGAAAGGCATCTGTCCAGCTGATGTGGCCTAC c.180
P S L P D G V R R A K G I C P A D V A Y p.60
. . . . . | 03 . g.8288
CGAGTGGCACGACCTGCCCAGCTCAGTGCACCCACTCGCCAGCTTTTCCCAG | GAGGATTT c.240
R V A R P A Q L S A P T R Q L F P G | G F p.80
. . . . . . g.8348
CCCAAAGATTTCTCTCTGCTGACTGTTGTCCGGACCCGCCCTGGTCTCCAAGCTCCCCTC c.300
P K D F S L L T V V R T R P G L Q A P L p.100
. . . . . . g.8408
CTGACTCTCTACAGTGCCCAGGGTGTCCGACAGCTGGGCCTGGAGCTGGGCCGACCTGTC c.360
L T L Y S A Q G V R Q L G L E L G R P V p.120
. . . . . . g.8468
CGCTTCCTGTATGAAGACCAGACTGGGCGGCCTCAACCTCCCTCTCAGCCAGTCTTCCGA c.420
R F L Y E D Q T G R P Q P P S Q P V F R p.140
. . | 04 . . . . g.8981
GGCCTCAGCCTAGCAGATGGCAA | GTGGCACCGTGTGGCTGTGGCTGTGAAGGGCCAGTCT c.480
G L S L A D G K | W H R V A V A V K G Q S p.160
. . . . . . g.9041
GTCACCCTCATTGTTGACTGCAAGAAGCGAGTCACCCGGCCTCTCCCCCGAAGTGCTCGT c.540
V T L I V D C K K R V T R P L P R S A R p.180
. . . . . . g.9101
CCAGTATTGGACACCCATGGAGTGATCATCTTTGGTGCCCGTATTCTGGATGAAGAAGTC c.600
P V L D T H G V I I F G A R I L D E E V p.200
| 05 . . . . . . g.10704
TTTGAG | GGTGATGTCCAGGAGCTGGCCATTGTCCCAGGGGTCCAGGCAGCCTATGAATCA c.660
F E | G D V Q E L A I V P G V Q A A Y E S p.220
. . . . . . g.10764
TGTGAACAGAAGGAGCTGGAATGCGAGGGGGGCCAGAGGGAAAGACCCCAAAACCAACAG c.720
C E Q K E L E C E G G Q R E R P Q N Q Q p.240
. . . . . . g.10824
CCTCACAGAGCCCAGAGATCTCCACAGCAGCAACCATCAAGACTTCACAGGCCACAAAAT c.780
P H R A Q R S P Q Q Q P S R L H R P Q N p.260
. | 06 . . . . g.11732
CAGGAACCCCAGAGCCAG | CCCACTGAGTCTCTCTACTATGACTACGAGCCCCCCTATTAT c.840
Q E P Q S Q | P T E S L Y Y D Y E P P Y Y p.280
. . . | 07 . . . g.12438
GATGTGATGACTACGGGGACAACCCCTGATTATCAG | GACCCCACCCCAGGTGAAGAGGAA c.900
D V M T T G T T P D Y Q | D P T P G E E E p.300
. . . | 08 . . g.13165
GAAATCCTGGAGTCGAGCCTCTTGCCACCCCTTGAGGAG | GAGCAGACAGATCTCCAGGTC c.960
E I L E S S L L P P L E E | E Q T D L Q V p.320
. . . . . . g.13225
CCCCCCACAGCCGACAGGTTCCAGGCAGAGGAATATGGGGAGGGTGGCACAGACCCCCCT c.1020
P P T A D R F Q A E E Y G E G G T D P P p.340
. . . . . . g.13285
GAAGGGCCCTACGATTACACCTATGGCTATGGGGATGATTATCGTGAGGAGACAGAGCTT c.1080
E G P Y D Y T Y G Y G D D Y R E E T E L p.360
. . . | 09 . . g.16319
GGCCCTGCCCTCTCTGCGGAGACAGCCCACTCAGGAGCC | GCTGCCCATGGACCCCGAGGG c.1140
G P A L S A E T A H S G A | A A H G P R G p.380
. . . | 10 . . g.16484
CTGAAGGGAGAGAAAGGAGAGCCTGCAGTGTTGGAACCT | GGTATGCTCGTGGAGGGGCCC c.1200
L K G E K G E P A V L E P | G M L V E G P p.400
. . | 11 . . . . g.16777
CCTGGCCCAGAAGGCCCTGCG | GGATTGATTGGTCCCCCTGGCATCCAGGGGAACCCAGGC c.1260
P G P E G P A | G L I G P P G I Q G N P G p.420
. . | 12 . . . . g.17172
CCAGTTGGAGACCCTGGAGAGAGG | GGCCCCCCTGGCCGAGCAGGGCTCCCTGGATCAGAT c.1320
P V G D P G E R | G P P G R A G L P G S D p.440
. . . | 13 . . g.17684
GGGGCTCCTGGTCCTCCTGGCACATCTCTCATGCTCCCA | TTCCGGTTTGGCAGTGGTGGG c.1380
G A P G P P G T S L M L P | F R F G S G G p.460
. . . . . . g.17744
GGTGACAAGGGCCCTGTGGTGGCGGCCCAGGAGGCTCAGGCCCAGGCGATCCTGCAGCAG c.1440
G D K G P V V A A Q E A Q A Q A I L Q Q p.480
| 14 . . . . . . g.18035
GCGAGG | CTGGCGCTCCGTGGACCCCCTGGCCCCATGGGATACACAGGGCGCCCTGGACCC c.1500
A R | L A L R G P P G P M G Y T G R P G P p.500
| 15 . . . . . | 16. g.18345
TTG | GGCCAACCTGGGAGCCCTGGCCTGAAAGGAGAGTCTGGAGACTTAGGACCTCAG | GGC c.1560
L | G Q P G S P G L K G E S G D L G P Q | G p.520
. . . . . | 17 . g.18504
CCCAGAGGACCTCAGGGCCTCACAGGCCCTCCTGGCAAGGCTGGGCGAAGG | GGCCGGGCA c.1620
P R G P Q G L T G P P G K A G R R | G R A p.540
. . . . | 18 . . g.18751
GGTGCTGATGGAGCCCGAGGGATGCCTGGAGATCCTGGAGTGAAG | GGTGACCGAGGTTTT c.1680
G A D G A R G M P G D P G V K | G D R G F p.560
. . . | 19 . . g.19001
GATGGACTCCCAGGGCTCCCTGGAGAGAAGGGCCATAGG | GGTGATACTGGTGCCCAGGGC c.1740
D G L P G L P G E K G H R | G D T G A Q G p.580
. . . | 20 . . . g.19143
CTTCCTGGTCCCCCTGGTGAGGATGGAGAGAGG | GGAGATGACGGGGAGATTGGGCCTCGA c.1800
L P G P P G E D G E R | G D D G E I G P R p.600
. | 21 . . . . g.19325
GGGCTGCCTGGAGAGTCG | GGACCTCGAGGTCTCCTTGGCCCCAAAGGCCCACCTGGTATT c.1860
G L P G E S | G P R G L L G P K G P P G I p.620
. | 22 . . . . | 23. g.20006
CCTGGACCCCCT | GGCGTCCGAGGCATGGATGGTCCCCAGGGCCCCAAAGGGAGCTTG | GGA c.1920
P G P P | G V R G M D G P Q G P K G S L | G p.640
. . . . . | 24 . g.20252
CCCCAGGGAGAGCCAGGACCTCCTGGACAACAGGGCACCCCTGGGACCCAG | GGTCTTCCC c.1980
P Q G E P G P P G Q Q G T P G T Q | G L P p.660
. . . | 25 . . . g.20447
GGGCCCCAGGGTGCCATCGGCCCTCATGGAGAGAAG | GGTCCTCAAGGGAAGCCAGGGCTC c.2040
G P Q G A I G P H G E K | G P Q G K P G L p.680
. . . | 26 . . . g.20733
CCCGGCATGCCTGGCTCAGACGGACCCCCG | GGTCACCCAGGGAAGGAAGGTCCCCCTGGA c.2100
P G M P G S D G P P | G H P G K E G P P G p.700
. | 27 . . . . . g.21027
ACCAAAGGAAACCAG | GGTCCCTCTGGACCTCAGGGACCTCTAGGATACCCAGGACCTCGA c.2160
T K G N Q | G P S G P Q G P L G Y P G P R p.720
| 28 . . . . | 29 . g.21405
GGGGTCAAG | GGTGTGGACGGAATTCGGGGTCTGAAGGGTCATAAGGGTGAGAAG | GGTGAG c.2220
G V K | G V D G I R G L K G H K G E K | G E p.740
. . . . | 30 . g.21799
GATGGCTTTCCTGGGTTCAAAGGTGACATAGGCGTGAAAGGTGACAGG | GGCGAAGTTGGA c.2280
D G F P G F K G D I G V K G D R | G E V G p.760
. . . . . . g.21859
GTCCCTGGTTCCAGGGGAGAGGATGGTCCTGAGGGGCCAAAGGGACGCACTGGACCGACT c.2340
V P G S R G E D G P E G P K G R T G P T p.780
. . . | 31 . . . g.22912
GGAGACCCTGGGCCCCCAGGGCTCATGGGCGAGAAG | GGCAAGCTGGGTGTTCCTGGTCTG c.2400
G D P G P P G L M G E K | G K L G V P G L p.800
. . . | 32 . . . g.23280
CCTGGCTATCCTGGACGTCAGGGACCCAAG | GGGTCCCTAGGATTTCCTGGCTTTCCTGGT c.2460
P G Y P G R Q G P K | G S L G F P G F P G p.820
. . | 33 . . . . g.23449
GCCAGTGGAGAGAAGGGAGCCCGG | GGCCTGTCGGGGAAGTCAGGGCCTCGGGGAGAACGG c.2520
A S G E K G A R | G L S G K S G P R G E R p.840
| 34 . . . . . g.23593
GGCCCCACG | GGTCCACGGGGTCAGCGGGGACCCCGAGGTGCCACTGGGAAGTCTGGAGCT c.2580
G P T | G P R G Q R G P R G A T G K S G A p.860
| 35 . . . . | 36 . g.23925
AAG | GGAACATCTGGTGGTGATGGCCCCCATGGGCCCCCTGGAGAGAGG | GGCCTCCCTGGA c.2640
K | G T S G G D G P H G P P G E R | G L P G p.880
. . . . | 37 . . g.24085
CCTCAGGGTCCCAACGGGTTTCCTGGACCGAAAGGACCCCCG | GGCCCCCCTGGGAAGGAT c.2700
P Q G P N G F P G P K G P P | G P P G K D p.900
. . . | 38 . . . g.24379
GGGCTGCCGGGACACCCAGGCCAAAGAGGAGAAGTG | GGTTTCCAAGGGAAGACCGGCCCC c.2760
G L P G H P G Q R G E V | G F Q G K T G P p.920
. . . | 39 . . . g.24861
CCTGGTCCTCCAGGAGTGGTGGGACCTCAG | GGAGCAGCAGGAGAAACCGGCCCTATGGGG c.2820
P G P P G V V G P Q | G A A G E T G P M G p.940
. . . . . . g.24921
GAGAGAGGTCACCCAGGCCCCCCGGGGCCCCCTGGAGAGCAGGGACTACCTGGGACAGCT c.2880
E R G H P G P P G P P G E Q G L P G T A p.960
. | 40 . . . . g.25132
GGAAAAGAAGGAACAAAG | GGTGACCCTGGTCCCCCTGGGGCCCCAGGGAAGGATGGTCCT c.2940
G K E G T K | G D P G P P G A P G K D G P p.980
. . . . | 41 . g.25377
GCTGGTCTGAGGGGATTCCCAGGAGAGAGAGGCCTCCCAGGCACTGCT | GGTGGACCTGGT c.3000
A G L R G F P G E R G L P G T A | G G P G p.1000
. . . . | 42 . . g.25666
TTGAAGGGGAATGAAGGTCCGTCTGGCCCCCCTGGCCCTGCA | GGCTCCCCTGGGGAACGA c.3060
L K G N E G P S G P P G P A | G S P G E R p.1020
. . . . . . g.25726
GGTGCAGCAGGATCAGGGGGACCCATTGGTCCGCCAGGGCGCCCAGGCCCGCAGGGTCCC c.3120
G A A G S G G P I G P P G R P G P Q G P p.1040
. . . | 43 . . . g.25924
CCTGGAGCAGCAGGAGAGAAAGGTGTCCCA | GGTGAGAAGGGCCCCATTGGCCCGACTGGC c.3180
P G A A G E K G V P | G E K G P I G P T G p.1060
. . . . . . g.25984
CGAGATGGAGTGCAGGGTCCTGTGGGGCTTCCTGGTCCTGCTGGGCCTCCAGGTGTGGCT c.3240
R D G V Q G P V G L P G P A G P P G V A p.1080
. | 44 . . . . g.26186
GGAGAGGATGGAGACAAG | GGTGAGGTGGGGGACCCCGGACAGAAGGGCACCAAAGGGAAC c.3300
G E D G D K | G E V G D P G Q K G T K G N p.1100
. | 45 . . . . . g.26349
AAGGGTGAACAT | GGCCCTCCTGGACCCCCTGGACCCATTGGTCCTGTGGGGCAGCCTGGA c.3360
K G E H | G P P G P P G P I G P V G Q P G p.1120
| 46 . . . . . . g.26605
GCAGCG | GGAGCAGATGGGGAGCCCGGAGCTCGGGGACCCCAGGGACACTTTGGAGCCAAA c.3420
A A | G A D G E P G A R G P Q G H F G A K p.1140
. . . . . | 47 . g.26864
GGTGATGAAGGAACAAGAGGATTCAATGGGCCCCCAGGACCCATTGGCCTACAG | GGTTTG c.3480
G D E G T R G F N G P P G P I G L Q | G L p.1160
. . . . | 48 . g.27101
CCAGGCCCCTCTGGGGAGAAGGGAGAAACAGGAGATGTGGGTCCTATG | GGACCACCTGGC c.3540
P G P S G E K G E T G D V G P M | G P P G p.1180
. . . . | 49 . . g.27386
CCCCCAGGACCTCGAGGTCCAGCTGGACCCAATGGCGCTGAT | GGCCCACAAGGTCCCCCA c.3600
P P G P R G P A G P N G A D | G P Q G P P p.1200
. . . | 50 . . . g.27608
GGAGGTGTTGGGAACCTGGGTCCCCCTGGAGAGAAG | GGGGAACCAGGAGAGTCAGGATCT c.3660
G G V G N L G P P G E K | G E P G E S G S p.1220
. . . | 51 . . . g.28008
CCAGGGATCCAGGGCGAGCCAGGTGTCAAG | GGTCCACGCGGGGAACGTGGAGAGAAAGGA c.3720
P G I Q G E P G V K | G P R G E R G E K G p.1240
. . . . . . g.28068
GAGTCGGGGCAGCCAGGAGAGCCAGGGCCACCAGGGCCTAAAGGCCCCACAGGCGATGAT c.3780
E S G Q P G E P G P P G P K G P T G D D p.1260
. | 52 . . . . g.28502
GGCCCCAAAGGGAACCCT | GGTCCTGTTGGTTTTCCTGGTGACCCTGGCCCCCCTGGAGAA c.3840
G P K G N P | G P V G F P G D P G P P G E p.1280
. | 53 . . . . . g.28757
GGTGGCCCTCGG | GGCCAGGATGGTGCTAAGGGTGACCGAGGCGAGGATGGTGAGCCAGGA c.3900
G G P R | G Q D G A K G D R G E D G E P G p.1300
| 54 . . . . . . g.28950
CAGCCT | GGATCCCCTGGTCCCACCGGGGAGAATGGACCCCCAGGGCCACTTGGAAAGCGA c.3960
Q P | G S P G P T G E N G P P G P L G K R p.1320
| 55 . . . . . | 56 . g.29941
| GGTCCTGCTGGCTCGCCTGGTTCCGAGGGGCGACAAGGAGGGAAGGGAGCCAAG | GGAGAT c.4020
| G P A G S P G S E G R Q G G K G A K | G D p.1340
. . . . . . g.30001
CCTGGCGCTATAGGTGCCCCGGGGAAGACAGGCCCGGTGGGTCCTGCAGGCCCAGCAGGG c.4080
P G A I G A P G K T G P V G P A G P A G p.1360
. . . . | 57 . . g.30169
AAACCTGGCCCTGATGGTCTGAGGGGGCTCCCAGGCTCAGTG | GGTCAGCAAGGCCGACCT c.4140
K P G P D G L R G L P G S V | G Q Q G R P p.1380
. . . | 58 . . . g.30369
GGAGCTACAGGCCAGGCTGGGCCCCCAGGTCCTGTG | GGACCCCCAGGGCTGCCTGGTCTC c.4200
G A T G Q A G P P G P V | G P P G L P G L p.1400
. . . | 59 . . . g.30671
CGGGGCGATGCTGGAGCCAAGGGAGAGAAG | GGCCACCCAGGTCTCATTGGACTGATTGGG c.4260
R G D A G A K G E K | G H P G L I G L I G p.1420
. . . . . . g.30731
CCCCCGGGTGAGCAGGGAGAGAAGGGAGATCGGGGACTTCCTGGGCCTCAGGGCTCCCCT c.4320
P P G E Q G E K G D R G L P G P Q G S P p.1440
. | 60 . . . . g.30944
GGGCAGAAGGGTGAGATG | GGTATCCCAGGAGCATCCGGCCCCATTGGTCCTGGAGGTCCC c.4380
G Q K G E M | G I P G A S G P I G P G G P p.1460
. | 61 . . . | 62 . g.31496
CCCGGCCTCCCC | GGACCTGCTGGCCCCAAAGGAGCCAAAGGAGCCACA | GGCCCAGGCGGA c.4440
P G L P | G P A G P K G A K G A T | G P G G p.1480
. . . . | 63 . . g.31670
CCCAAGGGAGAGAAGGGTGTGCAGGGCCCTCCAGGACACCCG | GGTCCCCCAGGCGAGGTG c.4500
P K G E K G V Q G P P G H P | G P P G E V p.1500
. . . . . . g.31730
ATCCAGCCACTGCCCATTCAGATGCCCAAGAAGACTCGGCGCTCGGTGGATGGAAGCCGT c.4560
I Q P L P I Q M P K K T R R S V D G S R p.1520
. . . . . . g.31790
CTGATGCAGGAAGATGAGGCCATACCGACCGGGGGAGCCCCCGGCAGTCCTGGGGGGCTG c.4620
L M Q E D E A I P T G G A P G S P G G L p.1540
. . . . . . g.31850
GAGGAGATCTTTGGCTCACTCGACTCCCTGCGGGAGGAGATCGAGCAGATGAGGCGGCCA c.4680
E E I F G S L D S L R E E I E Q M R R P p.1560
. . . . . . g.31910
ACAGGGACCCAGGACAGCCCTGCTCGCACCTGCCAGGACCTGAAGCTGTGCCACCCAGAG c.4740
T G T Q D S P A R T C Q D L K L C H P E p.1580
. | 64 . . . . . g.32554
CTTCCCGATG | GAGAGTACTGGGTCGACCCCAACCAGGGCTGTGCTCGGGATGCCTTCCGA c.4800
L P D G | E Y W V D P N Q G C A R D A F R p.1600
. . . . . . g.32614
GTTTTCTGCAACTTCACAGCAGGGGGTGAGACCTGTGTGACGCCTAGGGATGACGTCACG c.4860
V F C N F T A G G E T C V T P R D D V T p.1620
| 65 . . . . . . g.33052
CAG | TTCTCTTACGTGGACTCAGAGGGCTCCCCAGTGGGTGTGGTCCAGCTCACCTTCCTG c.4920
Q | F S Y V D S E G S P V G V V Q L T F L p.1640
. . . . . . g.33112
CGGCTGCTCAGCGTCTCAGCCCACCAGGACGTCTCCTACCCCTGCTCTGGAGCAGCCCGT c.4980
R L L S V S A H Q D V S Y P C S G A A R p.1660
. . . . . . g.33172
GACGGTCCCCTGAGACTCCGTGGGGCCAATGAGGATGAGCTGAGCCCGGAGACTAGCCCC c.5040
D G P L R L R G A N E D E L S P E T S P p.1680
. . . | 66 . . . g.33680
TATGTCAAAGAATTCAGAGATGGCTGCCAG | ACACAGCAAGGCCGGACGGTGCTGGAGGTG c.5100
Y V K E F R D G C Q | T Q Q G R T V L E V p.1700
. . . . . . g.33740
CGAACGCCTGTGCTGGAGCAGCTGCCAGTGCTGGATGCCTCCTTCTCAGACCTGGGAGCC c.5160
R T P V L E Q L P V L D A S F S D L G A p.1720
. . . . . g.33791
CCACCGAGGCGGGGAGGGGTGCTGCTGGGGCCTGTCTGCTTCATGGGATAG c.5211
P P R R G G V L L G P V C F M G X p.1736
. . . . . . g.33851
gaccgtctctgtctgatcctgtccattcggaaccaggcccacctggaatcccacaacatc c.*60
. . . . . . g.33911
agctctgtgccacctcccaagagggctcctcactatctagggagccctgggccagggcgt c.*120
. . . . . . g.33971
ggagagccctcagtcggggcaggccaggggaggggtgaagtggttgcctggacaccccac c.*180
. . . . . . g.34031
gggaggagtggcatctggggctcttggccctcccacctggagcctgttacccgttagaga c.*240
. . . . . . g.34091
gctgagacccttatttaaaactcacctcccaatcaccccaaacaaatggaagagaagaga c.*300
. . . . . . g.34151
aaggacatggcgtattttgtatttaaaagtaattgtattaattatttaaagtgtggaaag c.*360
. . . . . . g.34211
caaaataacaaaaaagagaaacgccaacaaaaatcagcagatgttgaagacaggggtctc c.*420
. . . . . . g.34271
gggggtgggctccggcacccacatcctggagtcaggactttcctcagtgactgtgtgtag c.*480
. . . . . . g.34331
gggggtttcagggctgaaccccacctccctcccaccttcctcccacctcacctgtcgcac c.*540
. . . . . . g.34391
ccactgtgaaagttggaatatgtggtctccctggcctcagggctctgactctgccagggt c.*600
. . . . . . g.34451
ggggctctctaacccacaggtgttggctgcctggcccatgtgcccactgtctcttccact c.*660
. . . . . . g.34511
tggtctgggtttggcaggcactgcctgctacttgagggccaggatgctcccccagggaag c.*720
. . . . . . g.34571
aaacggaatagtgtggggtgtgtgcagggctgcatcccgcagatggctggaatattaaaa c.*780
. . . . . . g.34631
ttcttctatattggctggtaaattgccatggccctgagccactgagtatgttcattgcca c.*840
. . . . . . g.34691
cccctgtccctcccctgggcacccctcactttccctgatcctgcaattaaagggttaatg c.*900
. . . . . . g.34751
tgtggcatatggaagggactcccaggaccctgtgcccagcttccatgctgactgatggtt c.*960
. . g.34777
aaataatgtgattgtctcctcccagg c.*986
(downstream sequence)
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