(used for variant description)
(last modified November 16, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_001844.4 in the COL2A1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008072.1, covering COL2A1 transcript NM_001844.4.
(upstream sequence)
g.5001
a c.-181
. . . . . . g.5061
acgggcgccgcggcggggagaagacgcagagcgctgctgggctgccgggtctcccgcttc c.-121
. . . . . . g.5121
cccctcctgctccaagggcctcctgcatgagggcgcggtagagacccggacccgcgccgt c.-61
. . . . . . g.5181
gctcctgccgtttcgctgcgctccgcccgggcccggctcagccaggccccgcggtgagcc c.-1
. . . . . . g.5241
ATGATTCGCCTCGGGGCTCCCCAGACGCTGGTGCTGCTGACGCTGCTCGTCGCCGCTGTC c.60
M I R L G A P Q T L V L L T L L V A A V p.20
. . | 02 . . . . g.9412
CTTCGGTGTCAGGGCCAGGATGTCC | AGGAGGCTGGCAGCTGTGTGCAGGATGGGCAGAGG c.120
L R C Q G Q D V Q | E A G S C V Q D G Q R p.40
. . . . . . g.9472
TATAATGATAAGGATGTGTGGAAGCCGGAGCCCTGCCGGATCTGTGTCTGTGACACTGGG c.180
Y N D K D V W K P E P C R I C V C D T G p.60
. . . . . . g.9532
ACTGTCCTCTGCGACGACATAATCTGTGAAGACGTGAAAGACTGCCTCAGCCCTGAGATC c.240
T V L C D D I I C E D V K D C L S P E I p.80
. . . . . | 03 . g.11079
CCCTTCGGAGAGTGCTGCCCCATCTGCCCAACTGACCTCGCCACTGCCAGTG | GGCAACCA c.300
P F G E C C P I C P T D L A T A S G | Q P p.100
| 04 . . . | 05 . . g.11456
GGACCAAAG | GGACAGAAAGGAGAACCTGGAGACATCAAGGAT | ATTGTAGGACCCAAAGGA c.360
G P K | G Q K G E P G D I K D | I V G P K G p.120
. | 06 . . . . . g.11623
CCTCCTGGGCCTCAG | GGACCTGCAGGGGAACAAGGACCCAGAGGGGATCGTGGTGACAAA c.420
P P G P Q | G P A G E Q G P R G D R G D K p.140
| 07 . . . . . g.11846
GGTGAAAAA | GGTGCCCCTGGACCTCGTGGCAGAGATGGAGAACCTGGGACCCCTGGAAAT c.480
G E K | G A P G P R G R D G E P G T P G N p.160
. . . . . | 08 . g.12886
CCTGGCCCCCCTGGTCCTCCCGGCCCCCCTGGTCCCCCTGGTCTTGGTGGA | AACTTTGCT c.540
P G P P G P P G P P G P P G L G G | N F A p.180
. . . . . . g.12946
GCCCAGATGGCTGGAGGATTTGATGAAAAGGCTGGTGGCGCCCAGTTGGGAGTAATGCAA c.600
A Q M A G G F D E K A G G A Q L G V M Q p.200
| 09 . . . . | 10 . g.13745
GGACCAATG | GGCCCCATGGGACCTCGAGGACCTCCAGGCCCTGCAGGTGCTCCT | GGGCCT c.660
G P M | G P M G P R G P P G P A G A P | G P p.220
. . . . | 11 . g.14206
CAAGGATTTCAAGGCAATCCTGGTGAACCTGGTGAACCTGGTGTCTCT | GGTCCCATGGGT c.720
Q G F Q G N P G E P G E P G V S | G P M G p.240
. . . . | 12 . . g.15043
CCCCGTGGTCCTCCTGGTCCCCCTGGAAAGCCTGGTGATGAT | GGTGAAGCTGGAAAACCT c.780
P R G P P G P P G K P G D D | G E A G K P p.260
. . . | 13 . . . g.15479
GGAAAAGCTGGTGAAAGGGGTCCGCCTGGTCCTCAG | GGTGCTCGTGGTTTCCCAGGAACC c.840
G K A G E R G P P G P Q | G A R G F P G T p.280
. . . | 14 . . . g.15670
CCAGGCCTTCCTGGTGTCAAAGGTCACAGA | GGTTATCCAGGCCTGGACGGTGCTAAGGGA c.900
P G L P G V K G H R | G Y P G L D G A K G p.300
. . | 15 . . . . g.16036
GAGGCGGGTGCTCCTGGTGTGAAG | GGTGAGAGTGGTTCCCCGGGTGAGAACGGATCTCCG c.960
E A G A P G V K | G E S G S P G E N G S P p.320
| 16 . . . . . g.16622
GGCCCAATG | GGTCCTCGTGGCCTGCCTGGTGAAAGAGGACGGACTGGCCCTGCTGGCGCT c.1020
G P M | G P R G L P G E R G R T G P A G A p.340
| 17 . . . . | 18 . g.20233
GCG | GGTGCCCGAGGCAACGATGGTCAGCCAGGCCCCGCAGGGCCTCCG | GGTCCTGTCGGT c.1080
A | G A R G N D G Q P G P A G P P | G P V G p.360
. . . . | 19 . . g.21811
CCTGCTGGTGGTCCTGGCTTCCCTGGTGCTCCTGGAGCCAAG | GGTGAAGCCGGCCCCACT c.1140
P A G G P G F P G A P G A K | G E A G P T p.380
. . . . . . g.21871
GGTGCCCGTGGTCCTGAAGGTGCTCAAGGTCCTCGCGGTGAACCTGGTACTCCTGGGTCC c.1200
G A R G P E G A Q G P R G E P G T P G S p.400
. . | 20 . . . . g.22228
CCTGGGCCTGCTGGTGCCTCC | GGTAACCCTGGAACAGATGGAATTCCTGGAGCCAAAGGA c.1260
P G P A G A S | G N P G T D G I P G A K G p.420
| 21 . . . . . . g.22380
TCTGCT | GGTGCTCCTGGCATTGCTGGTGCTCCTGGCTTCCCTGGGCCACGGGGCCCTCCT c.1320
S A | G A P G I A G A P G F P G P R G P P p.440
. . . . | 22 . . g.22629
GGCCCTCAAGGTGCAACTGGTCCTCTGGGCCCGAAAGGTCAGACG | GGTGAACCTGGTATT c.1380
G P Q G A T G P L G P K G Q T | G E P G I p.460
. . . | 23 . . g.23080
GCTGGCTTCAAAGGTGAACAAGGCCCCAAGGGAGAACCT | GGCCCTGCTGGCCCCCAGGGA c.1440
A G F K G E Q G P K G E P | G P A G P Q G p.480
. . . . . . g.23140
GCCCCTGGACCCGCTGGTGAAGAAGGCAAGAGAGGTGCCCGTGGAGAGCCTGGTGGCGTT c.1500
A P G P A G E E G K R G A R G E P G G V p.500
. . | 24. . . . g.23570
GGGCCCATCGGTCCCCCTGGAGAAAGA | GGTGCTCCCGGCAACCGCGGTTTCCCAGGTCAA c.1560
G P I G P P G E R | G A P G N R G F P G Q p.520
. . | 25 . . . . g.23715
GATGGTCTGGCAGGTCCCAAG | GGAGCCCCTGGAGAGCGAGGGCCCAGTGGTCTTGCTGGC c.1620
D G L A G P K | G A P G E R G P S G L A G p.540
. . . . . . g.23775
CCCAAGGGAGCCAACGGTGACCCTGGCCGTCCTGGAGAACCTGGCCTTCCTGGAGCCCGG c.1680
P K G A N G D P G R P G E P G L P G A R p.560
| 26 . . . . . | 27 . g.24415
| GGTCTCACTGGCCGCCCTGGTGATGCTGGTCCTCAAGGCAAAGTTGGCCCTTCT | GGAGCC c.1740
| G L T G R P G D A G P Q G K V G P S | G A p.580
. . . . . . g.24475
CCTGGTGAAGATGGTCGTCCTGGACCTCCAGGTCCTCAGGGGGCTCGTGGGCAGCCTGGT c.1800
P G E D G R P G P P G P Q G A R G Q P G p.600
. . . | 28 . . . g.24930
GTCATGGGTTTCCCTGGCCCCAAAGGTGCCAAC | GGTGAGCCTGGCAAAGCTGGTGAGAAG c.1860
V M G F P G P K G A N | G E P G K A G E K p.620
. . | 29. . . . g.25395
GGACTGCCTGGTGCTCCTGGTCTGAGG | GGTCTTCCTGGCAAAGATGGTGAGACAGGTGCT c.1920
G L P G A P G L R | G L P G K D G E T G A p.640
. . | 30 . . . . g.25805
GCAGGACCCCCTGGCCCTGCT | GGACCTGCTGGTGAACGAGGCGAGCAGGGTGCTCCTGGG c.1980
A G P P G P A | G P A G E R G E Q G A P G p.660
. | 31 . . . . . g.26109
CCATCTGGGTTCCAG | GGACTTCCTGGCCCTCCTGGTCCCCCAGGTGAAGGTGGAAAACCA c.2040
P S G F Q | G L P G P P G P P G E G G K P p.680
| 32 . . . . | 33 . g.26562
GGTGACCAG | GGTGTTCCCGGTGAAGCTGGAGCCCCTGGCCTCGTGGGTCCCAGG | GGTGAA c.2100
G D Q | G V P G E A G A P G L V G P R | G E p.700
. . . . . . g.26622
CGAGGTTTCCCAGGTGAACGTGGCTCTCCCGGTGCCCAGGGCCTCCAGGGTCCCCGTGGC c.2160
R G F P G E R G S P G A Q G L Q G P R G p.720
. . . | 34 . . . g.26920
CTCCCCGGCACTCCTGGCACTGATGGTCCCAAA | GGTGCATCTGGCCCAGCAGGCCCCCCT c.2220
L P G T P G T D G P K | G A S G P A G P P p.740
. . . . . . g.26980
GGGGCTCAGGGCCCTCCAGGTCTTCAGGGAATGCCTGGCGAGAGGGGAGCAGCTGGTATC c.2280
G A Q G P P G L Q G M P G E R G A A G I p.760
. . | 35 . . . . g.27381
GCTGGGCCCAAAGGCGACAGG | GGTGACGTTGGTGAGAAAGGCCCTGAGGGAGCCCCTGGA c.2340
A G P K G D R | G D V G E K G P E G A P G p.780
. | 36 . . . . . g.27718
AAGGATGGTGGACGA | GGCCTGACAGGTCCCATTGGCCCCCCTGGCCCAGCTGGTGCTAAT c.2400
K D G G R | G L T G P I G P P G P A G A N p.800
| 37 . . . . . g.28157
GGCGAGAAG | GGAGAAGTTGGACCTCCTGGTCCTGCAGGAAGTGCTGGTGCTCGTGGCGCT c.2460
G E K | G E V G P P G P A G S A G A R G A p.820
| 38 . . . . . | 39. g.28844
CCG | GGTGAACGTGGAGAGACTGGGCCCCCCGGACCAGCGGGATTTGCTGGGCCTCCT | GGT c.2520
P | G E R G E T G P P G P A G F A G P P | G p.840
. . . . . . g.28904
GCTGATGGCCAGCCTGGGGCCAAGGGTGAGCAAGGAGAGGCCGGCCAGAAAGGCGATGCT c.2580
A D G Q P G A K G E Q G E A G Q K G D A p.860
. . . . | 40 . . g.29455
GGTGCCCCTGGTCCTCAGGGCCCCTCTGGAGCACCTGGGCCTCAG | GGTCCTACTGGAGTG c.2640
G A P G P Q G P S G A P G P Q | G P T G V p.880
. . . | 41 . . g.29959
ACTGGTCCTAAAGGAGCCCGAGGTGCCCAAGGCCCCCCG | GGAGCCACTGGATTCCCTGGA c.2700
T G P K G A R G A Q G P P | G A T G F P G p.900
. . . | 42 . . . g.30771
GCTGCTGGCCGCGTTGGACCCCCAGGCTCCAAT | GGCAACCCTGGACCCCCTGGTCCCCCT c.2760
A A G R V G P P G S N | G N P G P P G P P p.920
. . . . . . g.30831
GGTCCTTCTGGAAAAGATGGTCCCAAAGGTGCTCGAGGAGACAGCGGCCCCCCTGGCCGA c.2820
G P S G K D G P K G A R G D S G P P G R p.940
. . . . . . g.30891
GCTGGTGAACCCGGCCTCCAAGGTCCTGCTGGACCCCCTGGCGAGAAGGGAGAGCCTGGA c.2880
A G E P G L Q G P A G P P G E K G E P G p.960
. | 43 . . . . . g.31149
GATGACGGTCCCTCT | GGTGCCGAAGGTCCACCAGGTCCCCAGGGTCTGGCTGGTCAGAGA c.2940
D D G P S | G A E G P P G P Q G L A G Q R p.980
. . . . . . g.31209
GGCATCGTCGGTCTGCCTGGGCAACGTGGTGAGAGAGGATTCCCTGGCTTGCCTGGCCCG c.3000
G I V G L P G Q R G E R G F P G L P G P p.1000
| 44 . . . . . . g.31442
TCG | GGTGAGCCCGGCAAGCAGGGTGCTCCTGGAGCATCTGGAGACAGAGGTCCTCCTGGC c.3060
S | G E P G K Q G A P G A S G D R G P P G p.1020
. . . . . | 45 . g.31858
CCCGTGGGTCCTCCTGGCCTGACGGGTCCTGCAGGTGAACCTGGACGAGAG | GGAAGCCCC c.3120
P V G P P G L T G P A G E P G R E | G S P p.1040
. . . . | 46 . . g.32090
GGTGCTGATGGCCCCCCTGGCAGAGATGGCGCTGCTGGAGTCAAG | GGTGATCGTGGTGAG c.3180
G A D G P P G R D G A A G V K | G D R G E p.1060
. . . . . . g.32150
ACTGGTGCTGTGGGAGCTCCTGGAGCCCCTGGGCCCCCTGGCTCCCCTGGCCCCGCTGGT c.3240
T G A V G A P G A P G P P G S P G P A G p.1080
. . . | 47 . . . g.32374
CCAACTGGCAAGCAAGGAGACAGAGGAGAAGCT | GGTGCACAAGGCCCCATGGGACCCTCA c.3300
P T G K Q G D R G E A | G A Q G P M G P S p.1100
. . | 48. . . . g.32616
GGACCAGCTGGAGCCCGGGGAATCCAG | GGTCCTCAAGGCCCCAGAGGTGACAAAGGAGAG c.3360
G P A G A R G I Q | G P Q G P R G D K G E p.1120
. . . . . . g.32676
GCTGGAGAGCCTGGCGAGAGAGGCCTGAAGGGACACCGTGGCTTCACTGGTCTGCAGGGT c.3420
A G E P G E R G L K G H R G F T G L Q G p.1140
. | 49 . . . . . g.32980
CTGCCCGGCCCTCCT | GGTCCTTCTGGAGACCAAGGTGCTTCTGGTCCTGCTGGTCCTTCT c.3480
L P G P P | G P S G D Q G A S G P A G P S p.1160
| 50 . . . . . g.33483
GGCCCTAGA | GGTCCTCCTGGCCCCGTCGGTCCCTCTGGCAAAGATGGTGCTAATGGAATC c.3540
G P R | G P P G P V G P S G K D G A N G I p.1180
. . . . . | 51. g.33900
CCTGGCCCCATTGGGCCTCCTGGTCCCCGTGGACGATCAGGCGAAACCGGCCCTGCT | GGT c.3600
P G P I G P P G P R G R S G E T G P A | G p.1200
. . . . . . g.33960
CCTCCTGGAAATCCTGGACCCCCTGGTCCTCCAGGTCCCCCTGGCCCTGGCATCGACATG c.3660
P P G N P G P P G P P G P P G P G I D M p.1220
. . . . . . g.34020
TCCGCCTTTGCTGGCTTAGGCCCGAGAGAGAAGGGCCCCGACCCCCTGCAGTACATGCGG c.3720
S A F A G L G P R E K G P D P L Q Y M R p.1240
. . . . . . g.34080
GCCGACCAGGCAGCCGGTGGCCTGAGACAGCATGACGCCGAGGTGGATGCCACACTCAAG c.3780
A D Q A A G G L R Q H D A E V D A T L K p.1260
. . . . . . g.34140
TCCCTCAACAACCAGATTGAGAGCATCCGCAGCCCCGAGGGCTCCCGCAAGAACCCTGCT c.3840
S L N N Q I E S I R S P E G S R K N P A p.1280
. . . . | 52 . . g.34654
CGCACCTGCAGAGACCTGAAACTCTGCCACCCTGAGTGGAAGAGTG | GAGACTACTGGATT c.3900
R T C R D L K L C H P E W K S G | D Y W I p.1300
. . . . . . g.34714
GACCCCAACCAAGGCTGCACCTTGGACGCCATGAAGGTTTTCTGCAACATGGAGACTGGC c.3960
D P N Q G C T L D A M K V F C N M E T G p.1320
. . . . . . g.34774
GAGACTTGCGTCTACCCCAATCCAGCAAACGTTCCCAAGAAGAACTGGTGGAGCAGCAAG c.4020
E T C V Y P N P A N V P K K N W W S S K p.1340
. . . . . | 53 . g.35177
AGCAAGGAGAAGAAACACATCTGGTTTGGAGAAACCATCAATGGTGGCTTCCAT | TTCAGC c.4080
S K E K K H I W F G E T I N G G F H | F S p.1360
. . . . . . g.35237
TATGGAGATGACAATCTGGCTCCCAACACTGCCAACGTCCAGATGACCTTCCTACGCCTG c.4140
Y G D D N L A P N T A N V Q M T F L R L p.1380
. . . . . . g.35297
CTGTCCACGGAAGGCTCCCAGAACATCACCTACCACTGCAAGAACAGCATTGCCTATCTG c.4200
L S T E G S Q N I T Y H C K N S I A Y L p.1400
. . . . . . g.35357
GACGAAGCAGCTGGCAACCTCAAGAAGGCCCTGCTCATCCAGGGCTCCAATGACGTGGAG c.4260
D E A A G N L K K A L L I Q G S N D V E p.1420
. . . . . | 54. g.35952
ATCCGGGCAGAGGGCAATAGCAGGTTCACGTACACTGCCCTGAAGGATGGCTGCACG | AAA c.4320
I R A E G N S R F T Y T A L K D G C T | K p.1440
. . . . . . g.36012
CATACCGGTAAGTGGGGCAAGACTGTTATCGAGTACCGGTCACAGAAGACCTCACGCCTC c.4380
H T G K W G K T V I E Y R S Q K T S R L p.1460
. . . . . . g.36072
CCCATCATTGACATTGCACCCATGGACATAGGAGGGCCCGAGCAGGAATTCGGTGTGGAC c.4440
P I I D I A P M D I G G P E Q E F G V D p.1480
. . g.36096
ATAGGGCCGGTCTGCTTCTTGTAA c.4464
I G P V C F L X p.1487
. . . . . . g.36156
aaacctgaacccagaaacaacacaatccgttgcaaacccaaaggacccaagtactttcca c.*60
. . . . . . g.36216
atctcagtcactctaggactctgcactgaatggctgacctgacctgatgtccattcatcc c.*120
. . . . . . g.36276
caccctctcacagttcggacttttctcccctctctttctaagagacctgaactgggcaga c.*180
. . . . . . g.36336
ctgcaaaataaaatctcggtgttctatttatttattgtcttcctgtaagaccttcgggtc c.*240
. . . . . . g.36396
aaggcagaggcaggaaactaactggtgtgagtcaaatgccccctgagtgactgcccccag c.*300
. . . . . . g.36456
cccaggccagaagacctcccttcaggtgccgggcgcaggaactgtgtgtgtcctacacaa c.*360
. . . . . . g.36516
tggtgctattctgtgtcaaacacctctgtattttttaaaacatcaattgatattaaaaat c.*420
. . g.36538
gaaaagattattggaaagtaca c.*442
(downstream sequence)
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