(used for variant description)
(last modified November 6, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_000393.3 in the COL5A2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_011799.3, covering COL5A2 transcript NM_000393.3.
(upstream sequence)
. . . g.5035
gaccgttgcttggcagacactggatggttatgagc c.-241
. . . . . . g.5095
ctgaacaagctgaaaaggggcaggaaaagaagtggaggcagcattcttcctatttaaagc c.-181
. . . . . . g.5155
tgcatcgcttgaaaaaagttttcgcagactgtgctggagctggtgctgaaaaagggggtt c.-121
. . . . . . g.5215
tgcagaggctgccctggggctggtgctgaaagaagagcccacagctgacttcatggtgct c.-61
. . . . . . g.5275
acaataacctcagaatctacttttcactctcaggagaacccacatgtctaatatttagac c.-1
. . . . . . g.5335
ATGATGGCAAACTGGGCGGAAGCAAGACCTCTCCTCATTCTTATTGTTTTATTAGGGCAA c.60
M M A N W A E A R P L L I L I V L L G Q p.20
. . . | 02. . . g.74453
TTTGTCTCAATAAAAGCCCAGGAAGAAGACGAGGATG | AAGGATATGGTGAAGAAATAGCC c.120
F V S I K A Q E E D E D E | G Y G E E I A p.40
. . . . . . g.74513
TGCACTCAGAATGGCCAGATGTACTTAAACAGGGACATTTGGAAACCTGCCCCTTGTCAG c.180
C T Q N G Q M Y L N R D I W K P A P C Q p.60
. . . . . . g.74573
ATCTGTGTCTGTGACAATGGAGCCATTCTCTGTGACAAGATAGAATGCCAGGATGTGCTG c.240
I C V C D N G A I L C D K I E C Q D V L p.80
. . . . . . g.74633
GACTGTGCCGACCCTGTAACGCCCCCTGGGGAATGCTGTCCTGTCTGTTCACAAACACCT c.300
D C A D P V T P P G E C C P V C S Q T P p.100
. . | 03 . | 04 . . . g.84764
GGAGGTGGCAATACCAATTTTG | GTAGAGGAAGAAAG | GGACAAAAGGGAGAACCAGGATTA c.360
G G G N T N F G | R G R K | G Q K G E P G L p.120
| 05 . . . | 06 . . g.87567
GTGCCTGTT | GTAACAGGCATACGTGGTCGTCCAGGACCGGCA | GGACCTCCAGGATCACAG c.420
V P V | V T G I R G R P G P A | G P P G S Q p.140
. . . | 07 . . . g.92483
GGACCAAGAGGAGAGCGAGGGCCAAAAGGAAGACCT | GGCCCTCGTGGACCTCAGGGAATT c.480
G P R G E R G P K G R P | G P R G P Q G I p.160
. . . . . . g.92543
GATGGAGAACCAGGTGTTCCTGGTCAACCTGGTGCTCCAGGACCTCCTGGACATCCGTCC c.540
D G E P G V P G Q P G A P G P P G H P S p.180
. . | 08. . . . g.96140
CACCCAGGACCCGATGGCTTGAGCAGG | CCGTTTTCAGCTCAAATGGCTGGGTTGGATGAA c.600
H P G P D G L S R | P F S A Q M A G L D E p.200
. . . . | 09 . . g.98124
AAATCTGGACTTGGGAGTCAAGTAGGACTAATGCCTGGCTCTGTG | GGTCCTGTTGGCCCA c.660
K S G L G S Q V G L M P G S V | G P V G P p.220
. . . | 10 . . . g.99137
AGGGGACCACAGGGTTTACAAGGACAGCAA | GGTGGTGCAGGACCTACAGGACCTCCTGGT c.720
R G P Q G L Q G Q Q | G G A G P T G P P G p.240
. . | 11 . . . . g.99702
GAACCTGGTGATCCTGGACCAATG | GGTCCGATTGGTTCACGTGGACCAGAGGGCCCTCCT c.780
E P G D P G P M | G P I G S R G P E G P P p.260
. | 12 . . . . g.100884
GGTAAACCTGGGGAAGAT | GGTGAACCTGGCAGAAATGGAAATCCTGGTGAAGTGGGATTT c.840
G K P G E D | G E P G R N G N P G E V G F p.280
. | 13 . . . . . g.103884
GCAGGATCTCCG | GGAGCTCGTGGATTTCCTGGGGCTCCTGGTCTTCCAGGTCTGAAGGGT c.900
A G S P | G A R G F P G A P G L P G L K G p.300
| 14 . . . . . . g.104902
CACCGA | GGACACAAAGGTCTTGAAGGCCCTAAAGGTGAAGTTGGAGCACCTGGTTCCAAG c.960
H R | G H K G L E G P K G E V G A P G S K p.320
| 15 . . . . | 16 . . g.106325
| GGTGAAGCTGGCCCCACTGGTCCAATGGGTGCCATGGGTCCTCTG | GGTCCGAGGGGAATG c.1020
| G E A G P T G P M G A M G P L | G P R G M p.340
. . . | 17 . . g.109463
CCAGGAGAGAGAGGGAGACTTGGGCCACAGGGTGCTCCT | GGACAACGAGGTGCACATGGT c.1080
P G E R G R L G P Q G A P | G Q R G A H G p.360
. . | 18 . . . . g.112822
ATGCCTGGAAAACCTGGACCAATG | GGTCCTCTTGGGATACCAGGCTCTTCTGGTTTTCCA c.1140
M P G K P G P M | G P L G I P G S S G F P p.380
. | 19 . . . . g.116037
GGAAATCCTGGAATGAAG | GGAGAAGCAGGTCCTACAGGGGCGCGAGGCCCTGAAGGTCCT c.1200
G N P G M K | G E A G P T G A R G P E G P p.400
. . . . . | 20. g.116612
CAGGGGCAGAGAGGTGAAACTGGGCCCCCAGGTCCAGTTGGCTCTCCAGGTCTTCCT | GGT c.1260
Q G Q R G E T G P P G P V G S P G L P | G p.420
. . . . | 21 . . g.116784
GCAATAGGAACTGATGGTACTCCTGGTGCCAAAGGCCCAACG | GGCTCTCCAGGTACCTCT c.1320
A I G T D G T P G A K G P T | G S P G T S p.440
. . . . . . g.116844
GGTCCTCCTGGCTCAGCAGGGCCTCCTGGATCTCCAGGACCTCAGGGTAGCACTGGTCCT c.1380
G P P G S A G P P G S P G P Q G S T G P p.460
. . | 22 . . . . g.118136
CAGGGAATTCGAGGCCAACCG | GGTGATCCAGGAGTTCCAGGTTTCAAAGGAGAAGCTGGC c.1440
Q G I R G Q P | G D P G V P G F K G E A G p.480
. | 23 . . . . . g.118427
CCAAAAGGGGAACCA | GGGCCACATGGTATTCAGGGTCCGATAGGCCCACCCGGTGAAGAA c.1500
P K G E P | G P H G I Q G P I G P P G E E p.500
. . . . . . g.118487
GGCAAAAGAGGTCCCAGAGGTGACCCAGGAACAGTTGGTCCTCCAGGGCCAGTGGGAGAA c.1560
G K R G P R G D P G T V G P P G P V G E p.520
| 24 . . . . . | 25. g.120227
AGG | GGTGCTCCTGGCAATCGTGGTTTTCCAGGCTCTGATGGTTTACCTGGGCCAAAG | GGT c.1620
R | G A P G N R G F P G S D G L P G P K | G p.540
. . . . . . g.120287
GCTCAAGGAGAACGGGGTCCTGTAGGTTCTTCAGGACCCAAAGGAAGCCAGGGGGATCCA c.1680
A Q G E R G P V G S S G P K G S Q G D P p.560
. . . | 26 . . . g.120870
GGACGTCCAGGGGAACCTGGGCTTCCAGGTGCTCGG | GGTTTGACAGGAAATCCTGGTGTT c.1740
G R P G E P G L P G A R | G L T G N P G V p.580
. . . | 27 . . . g.121639
CAAGGTCCTGAAGGAAAACTTGGACCTTTG | GGTGCGCCAGGGGAAGATGGCCGTCCAGGT c.1800
Q G P E G K L G P L | G A P G E D G R P G p.600
. . . . . . g.121699
CCTCCAGGCTCCATAGGAATCAGAGGGCAGCCCGGGAGCATGGGCCTTCCAGGCCCCAAA c.1860
P P G S I G I R G Q P G S M G L P G P K p.620
| 28 . . . . . g.121867
GGTAGCAGT | GGTGACCCTGGGAAACCTGGAGAAGCAGGAAATGCTGGAGTTCCTGGGCAG c.1920
G S S | G D P G K P G E A G N A G V P G Q p.640
| 29 . . . . . | 30. g.123267
AGG | GGAGCTCCTGGAAAAGATGGTGAAGTTGGTCCTTCTGGTCCTGTGGGCCCGCCG | GGT c.1980
R | G A P G K D G E V G P S G P V G P P | G p.660
. . . . . | 31 . g.124105
CTAGCTGGTGAAAGAGGAGAACAAGGACCTCCAGGCCCCACAGGTTTTCAG | GGGCTTCCT c.2040
L A G E R G E Q G P P G P T G F Q | G L P p.680
. . . . | 32 . . g.126001
GGTCCTCCAGGGCCTCCTGGAGAAGGTGGAAAACCAGGTGATCAA | GGTGTTCCTGGAGAT c.2100
G P P G P P G E G G K P G D Q | G V P G D p.700
. . . | 33 . . . g.126382
CCCGGAGCAGTTGGCCCGTTAGGACCTAGA | GGAGAACGAGGAAATCCTGGGGAAAGAGGA c.2160
P G A V G P L G P R | G E R G N P G E R G p.720
. . . . . . g.126442
GAACCTGGGATAACTGGACTCCCTGGTGAGAAGGGAATGGCTGGAGGACATGGTCCTGAT c.2220
E P G I T G L P G E K G M A G G H G P D p.740
| 34 . . . . . g.127503
GGCCCAAAA | GGCAGTCCAGGTCCATCTGGGACCCCTGGAGATACAGGCCCACCAGGTCTT c.2280
G P K | G S P G P S G T P G D T G P P G L p.760
. . . . . | 35. g.127856
CAAGGTATGCCGGGAGAAAGAGGAATTGCAGGAACTCCTGGCCCCAAGGGTGACAGA | GGT c.2340
Q G M P G E R G I A G T P G P K G D R | G p.780
. . . . . | 36 . g.130676
GGCATAGGAGAAAAAGGTGCTGAAGGCACAGCTGGAAATGATGGTGCAAGA | GGTCTTCCA c.2400
G I G E K G A E G T A G N D G A R | G L P p.800
. . . . | 37 . . g.130946
GGTCCTTTGGGCCCTCCAGGTCCGGCAGGTCCTACTGGAGAAAAG | GGTGAACCTGGTCCT c.2460
G P L G P P G P A G P T G E K | G E P G P p.820
. . . | 38 . . g.131423
CGAGGTTTAGTTGGCCCTCCTGGCTCCCGGGGCAATCCT | GGTTCTCGAGGTGAAAATGGG c.2520
R G L V G P P G S R G N P | G S R G E N G p.840
. . . | 39 . . . g.131888
CCAACTGGAGCTGTTGGTTTTGCCGGACCCCAG | GGTCCTGACGGACAGCCTGGAGTAAAA c.2580
P T G A V G F A G P Q | G P D G Q P G V K p.860
. . . . . . g.131948
GGTGAACCTGGAGAGCCAGGACAGAAGGGAGATGCTGGTTCTCCTGGACCACAAGGTTTA c.2640
G E P G E P G Q K G D A G S P G P Q G L p.880
. . | 40 . . . . g.132116
GCAGGATCCCCTGGCCCTCAT | GGTCCTAATGGTGTTCCTGGACTAAAAGGTGGTCGAGGA c.2700
A G S P G P H | G P N G V P G L K G G R G p.900
. | 41 . . . . . g.132699
ACCCAAGGTCCGCCT | GGTGCTACAGGATTTCCTGGTTCTGCGGGCAGAGTTGGACCTCCA c.2760
T Q G P P | G A T G F P G S A G R V G P P p.920
| 42 . . . . . g.133449
GGCCCTGCT | GGAGCTCCAGGACCTGCGGGACCCCTAGGGGAACCCGGGAAGGAGGGACCT c.2820
G P A | G A P G P A G P L G E P G K E G P p.940
. . . . . . g.133509
CCAGGTCTTCGTGGGGACCCTGGCTCTCATGGGCGTGTGGGAGATCGAGGACCAGCTGGC c.2880
P G L R G D P G S H G R V G D R G P A G p.960
. . . . . | 43 . g.134212
CCCCCTGGTGGCCCAGGAGACAAAGGGGACCCAGGAGAAGATGGGCAACCT | GGTCCAGAT c.2940
P P G G P G D K G D P G E D G Q P | G P D p.980
. . . . . . g.134272
GGCCCCCCTGGTCCAGCTGGAACGACCGGGCAGAGAGGAATTGTTGGCATGCCTGGGCAA c.3000
G P P G P A G T T G Q R G I V G M P G Q p.1000
. . . | 44 . . g.135446
CGTGGAGAGAGAGGCATGCCCGGCCTACCAGGCCCAGCG | GGAACACCAGGAAAAGTAGGA c.3060
R G E R G M P G L P G P A | G T P G K V G p.1020
. . . . . . g.135506
CCAACTGGTGCAACAGGAGATAAAGGTCCACCTGGACCTGTGGGGCCCCCAGGCTCCAAT c.3120
P T G A T G D K G P P G P V G P P G S N p.1040
. . | 45. . . . g.136650
GGTCCTGTAGGGGAACCTGGACCAGAA | GGTCCAGCTGGCAATGATGGTACCCCAGGACGG c.3180
G P V G E P G P E | G P A G N D G T P G R p.1060
. . | 46 . . . . g.139011
GATGGTGCTGTTGGAGAACGT | GGTGATCGTGGAGACCCTGGGCCTGCAGGTCTGCCAGGC c.3240
D G A V G E R | G D R G D P G P A G L P G p.1080
. . . . . . g.139071
TCTCAGGGTGCCCCTGGAACTCCTGGCCCTGTGGGTGCTCCAGGAGATGCAGGACAAAGA c.3300
S Q G A P G T P G P V G A P G D A G Q R p.1100
| 47 . . . . . g.139698
GGAGATCCG | GGTTCTCGGGGTCCTATAGGACCACCTGGTCGAGCTGGGAAACGTGGATTA c.3360
G D P | G S R G P I G P P G R A G K R G L p.1120
| 48 . . . . . . g.141678
CCT | GGACCCCAAGGACCTCGTGGTGACAAAGGTGATCATGGAGACCGAGGTGACAGAGGT c.3420
P | G P Q G P R G D K G D H G D R G D R G p.1140
. . . . . | 49 . g.142115
CAGAAGGGCCACAGAGGCTTTACTGGTCTTCAGGGTCTTCCTGGCCCTCCT | GGTCCAAAT c.3480
Q K G H R G F T G L Q G L P G P P | G P N p.1160
. . . . | 50 . . g.143201
GGTGAACAAGGAAGTGCTGGAATCCCTGGACCATTTGGCCCAAGA | GGTCCTCCAGGCCCA c.3540
G E Q G S A G I P G P F G P R | G P P G P p.1180
. . . . . . g.143261
GTTGGTCCTTCAGGTAAAGAAGGAAACCCTGGGCCACTTGGGCCAATTGGACCTCCAGGT c.3600
V G P S G K E G N P G P L G P I G P P G p.1200
. . . | 51 . . . g.145343
GTACGAGGCAGTGTAGGAGAAGCAGGACCTGAG | GGCCCTCCTGGTGAGCCTGGCCCACCT c.3660
V R G S V G E A G P E | G P P G E P G P P p.1220
. . . . . . g.145403
GGCCCTCCGGGTCCCCCTGGCCACCTTACAGCTGCTCTTGGGGATATCATGGGGCACTAT c.3720
G P P G P P G H L T A A L G D I M G H Y p.1240
. . . . . . g.145463
GATGAAAGCATGCCAGATCCACTTCCTGAGTTTACTGAAGATCAGGCGGCTCCTGATGAC c.3780
D E S M P D P L P E F T E D Q A A P D D p.1260
. . . . . . g.145523
AAAAACAAAACGGACCCAGGGGTTCATGCTACCCTGAAGTCACTCAGTAGTCAGATTGAA c.3840
K N K T D P G V H A T L K S L S S Q I E p.1280
. . . . . . g.145583
ACCATGCGCAGCCCCGATGGCTCGAAAAAGCACCCAGCCCGCACGTGTGATGACCTAAAG c.3900
T M R S P D G S K K H P A R T C D D L K p.1300
. . | 52 . . . . g.148111
CTTTGCCATTCCGCAAAGCAGAGTG | GTGAATACTGGATTGATCCTAACCAAGGATCTGTT c.3960
L C H S A K Q S G | E Y W I D P N Q G S V p.1320
. . . . . . g.148171
GAAGATGCAATCAAAGTTTACTGCAACATGGAAACAGGAGAAACATGTATTTCAGCAAAC c.4020
E D A I K V Y C N M E T G E T C I S A N p.1340
. . . . . . g.148231
CCATCCAGTGTACCACGTAAAACCTGGTGGGCCAGTAAATCTCCTGACAATAAACCTGTT c.4080
P S S V P R K T W W A S K S P D N K P V p.1360
. . . | 53 . . . g.149751
TGGTATGGTCTTGATATGAACAGAGGGTCTCAG | TTCGCTTATGGAGACCACCAATCACCT c.4140
W Y G L D M N R G S Q | F A Y G D H Q S P p.1380
. . . . . . g.149811
AATACAGCCATTACTCAGATGACTTTTTTGCGCCTTTTATCAAAAGAAGCCTCCCAGAAC c.4200
N T A I T Q M T F L R L L S K E A S Q N p.1400
. . . . . . g.149871
ATCACTTACATCTGTAAAAACAGTGTAGGATACATGGACGATCAAGCTAAGAACCTCAAA c.4260
I T Y I C K N S V G Y M D D Q A K N L K p.1420
. . . . . . g.149931
AAAGCTGTGGTTCTCAAAGGGGCAAATGACTTAGATATCAAAGCAGAGGGAAATATTAGA c.4320
K A V V L K G A N D L D I K A E G N I R p.1440
. . . | 54 . . . g.150690
TTCCGGTATATCGTTCTTCAAGACACTTGCTCT | AAGCGGAATGGAAATGTGGGCAAGACT c.4380
F R Y I V L Q D T C S | K R N G N V G K T p.1460
. . . . . . g.150750
GTCTTTGAATATAGAACACAGAATGTGGCACGCTTGCCCATCATAGATCTTGCTCCTGTG c.4440
V F E Y R T Q N V A R L P I I D L A P V p.1480
. . . . . . g.150810
GATGTTGGCGGCACAGACCAGGAATTCGGCGTTGAAATTGGGCCAGTTTGTTTTGTGTAA c.4500
D V G G T D Q E F G V E I G P V C F V X p.1499
. . . . . . g.150870
agtaagccaagacacatcgacaatgagcaccaccatcaatgaccaccgccattcacaaga c.*60
. . . . . . g.150930
actttgactgtttgaagttgatcctgagactcttgaagtaatggctgatcctgcatcagc c.*120
. . . . . . g.150990
attgtatatatggtcttaagtgcctggcctccttatccttcagaatatttattttactta c.*180
. . . . . . g.151050
caatcctcaagttttaattgattttaaatatttttcaatacaacagtttaggtttaagat c.*240
. . . . . . g.151110
gaccaatgacaatgaccacctttgcagaaagtaaactgattgaataaataaatctccgtt c.*300
. . . . . . g.151170
ttcttcaatttatttcagtgtaatgaaaaagttgcttagtatttatgaggaaattcttct c.*360
. . . . . . g.151230
tcctggcaggtagcttaaagagtggggtatatagagccacaacacatgtttattttgctt c.*420
. . . . . . g.151290
ggctgcagttgaaaaatagaaattagtgcccttttgtgacctctcattccaagattgtca c.*480
. . . . . . g.151350
attaaaaatgagtttaaaatgtttaacttgtgatcgagacctacatgcatgtcttgatat c.*540
. . . . . . g.151410
tgtgtaactataatagagactctttaaggagaatcttaaaaaaaaaaaaacgtttctcac c.*600
. . . . . . g.151470
tgtcttaaatagaatttttaaatagtatatattcagtggcattttggagaacaaagtgaa c.*660
. . . . . . g.151530
tttacttcgacttcttaaatttttgtaaaagactataagtttagacatctttctcattca c.*720
. . . . . . g.151590
aatttaaagatatctttctcctcttgatcaatctatcaatattgatagaagtcacactag c.*780
. . . . . . g.151650
tatataccatttaatacatttacactttcttatttaagaagatattgaatgcaaaataat c.*840
. . . . . . g.151710
tgacatatagaactttacaaacatatgtccaaggactctaaattgagactcttccacatg c.*900
. . . . . . g.151770
tacaatctcatcatcctgaagcctataatgaagaaaaagatctagaaactgagttgtgga c.*960
. . . . . . g.151830
gctgactctaatcaaatgtgatgattggaattagaccatttggcctttgaactttcatag c.*1020
. . . . . . g.151890
gaaaaatgacccaacatttcttagcatgagctacctcatctctagaagctgggatggact c.*1080
. . . . . . g.151950
tactattcttgtttatattttagatactgaaaggtgctatgcttctgttattattccaag c.*1140
. . . . . . g.152010
actggagataggcagggctaaaaaggtattattatttttcctttaatgatggtgctaaaa c.*1200
. . . . . . g.152070
ttcttcctataaaattccttaaaaataaagatggtttaatcactaccattgtgaaaacat c.*1260
. . . . . . g.152130
aactgttagacttcccgtttctgaaagaaagagcatcgttccaatgcttgttcactgttc c.*1320
. . . . . . g.152190
ctctgtcatactgtatctggaatgctttgtaatacttgcatgcttcttagaccagaacat c.*1380
. . . . . . g.152250
gtaggtccccttgtgtctcaatactttttttttcttaattgcatttgttggctctatttt c.*1440
. . . . . . g.152310
aatttttttcttttaaaataaacagctgggaccatcccaaaagacaagccatgcatacaa c.*1500
. . . . . . g.152370
ctttggtcatgtatctctgcaaagcatcaaattaaatgcacgcttttgtcatgtcagtgg c.*1560
. . . . . . g.152430
tttttgttttgtgaaattcctttgaccatattagatctatttcatttccaatagtgaaaa c.*1620
. . . . . . g.152490
ggagatgtggtggtatactttgtttgccatttgtttaaaagatacaacggataccttcta c.*1680
. . . . . . g.152550
tcatgtatgtactggcttataaatgaaaatctatctacaacattacccacaaaggcaaca c.*1740
. . . . . . g.152610
tgacaccaattatcactgcctctgcccttaaaaatgtcagagtagtattattgataaaaa c.*1800
. . . . . . g.152670
gggcaagcaatagatttttcatgactgaataaactgtaataataaaacatatgtctcaaa c.*1860
. . . . . . g.152730
gtgtatcacatatgaatttagcctaattgttttcagtttcattctcaatatttagtttac c.*1920
. . . . . . g.152790
aacatcattttcccctaaactggttatattttgacctgtatatcttaaatttgagtattt c.*1980
. . . . . . g.152850
atatgcctaaatacatgtgtgagttttgtttgacttccaagtccaaactataagattata c.*2040
. . . . . . g.152910
taagttcatatagatgaatcagaaatatgtggtaatactattaagtcacaaacactaaca c.*2100
. . . . . g.152965
atttccaactatagaaataacagttcttatttggattttgggaatgctaccaata c.*2155
(downstream sequence)
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