(used for variant description)
(last modified March 9, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_000401.3 in the EXT2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_007560.1, covering EXT2 transcript NM_000401.3.
(upstream sequence)
. . . . . g.5704
tcccttcctgctgccaccttcccgccagccacagggatctgattcctcccaggggg c.-1
. . . . . . g.5764
ATGTCCTGCGCCTCAGGGTCCGGTGGTGGCCTGCGGCATCCCTTGCGGTGCCAGAAGCCG c.60
M S C A S G S G G G L R H P L R C Q K P p.20
| 02 . . . . . g.17185
TGGGACGAG | GAGTGTGAGGAAGAGGCTGTCTGTGTCATTATGTGTGCGTCGGTCAAGTAT c.120
W D E | E C E E E A V C V I M C A S V K Y p.40
. . . . . . g.17245
AATATCCGGGGTCCTGCCCTCATCCCAAGAATGAAGACCAAGCACCGAATCTACTATATC c.180
N I R G P A L I P R M K T K H R I Y Y I p.60
. . . . . . g.17305
ACCCTCTTCTCCATTGTCCTCCTGGGCCTCATTGCCACTGGCATGTTTCAGTTTTGGCCC c.240
T L F S I V L L G L I A T G M F Q F W P p.80
. . . . . . g.17365
CATTCTATCGAGTCCTCAAATGACTGGAATGTAGAGAAGCGCAGCATCCGTGATGTGCCG c.300
H S I E S S N D W N V E K R S I R D V P p.100
. . . . . . g.17425
GTTGTTAGGCTGCCAGCCGACAGTCCCATCCCAGAGCGGGGGGATCTCAGTTGCAGAATG c.360
V V R L P A D S P I P E R G D L S C R M p.120
. . . . . . g.17485
CACACGTGTTTTGATGTCTATCGCTGTGGCTTCAACCCAAAGAACAAAATCAAGGTGTAT c.420
H T C F D V Y R C G F N P K N K I K V Y p.140
. . . . . . g.17545
ATCTATGCTCTGAAAAAGTACGTGGATGACTTTGGCGTCTCTGTCAGCAACACCATCTCC c.480
I Y A L K K Y V D D F G V S V S N T I S p.160
. . . . . . g.17605
CGGGAGTATAATGAACTGCTCATGGCCATCTCAGACAGTGACTACTACACTGATGACATC c.540
R E Y N E L L M A I S D S D Y Y T D D I p.180
. . . . . . g.17665
AACCGGGCCTGTCTGTTTGTTCCCTCCATCGATGTGCTTAACCAGAACACACTGCGCATC c.600
N R A C L F V P S I D V L N Q N T L R I p.200
. . . | 03 . . . g.18670
AAGGAGACAGCACAAGCGATGGCCCAGCTCTCTAG | GTGGGATCGAGGTACGAATCACCTG c.660
K E T A Q A M A Q L S R | W D R G T N H L p.220
. . . . . . g.18730
TTGTTCAACATGTTGCCTGGAGGTCCCCCAGATTATAACACAGCCCTGGATGTCCCCAGA c.720
L F N M L P G G P P D Y N T A L D V P R p.240
| 04 . . . . . . g.23691
GACAG | GGCCCTGTTGGCTGGTGGCGGCTTTTCTACGTGGACTTACCGGCAAGGCTACGAT c.780
D R | A L L A G G G F S T W T Y R Q G Y D p.260
. . . . . . g.23751
GTCAGCATTCCTGTCTATAGTCCACTGTCAGCTGAGGTGGATCTTCCAGAGAAAGGACCA c.840
V S I P V Y S P L S A E V D L P E K G P p.280
| 05 . . . . . . g.34298
GG | TCCACGGCAATACTTCCTCCTGTCATCTCAGGTGGGTCTCCATCCTGAGTACAGAGAG c.900
G | P R Q Y F L L S S Q V G L H P E Y R E p.300
. . . . . . g.34358
GACCTAGAAGCCCTCCAGGTCAAACATGGAGAGTCAGTGTTAGTACTCGATAAATGCACC c.960
D L E A L Q V K H G E S V L V L D K C T p.320
. . . . . . g.34418
AACCTCTCAGAGGGTGTCCTTTCTGTCCGTAAGCGCTGCCACAAGCACCAGGTCTTCGAT c.1020
N L S E G V L S V R K R C H K H Q V F D p.340
. | 06 . . . . g.36309
TACCCACAGGTGCTACAG | GAGGCTACTTTCTGTGTGGTTCTTCGTGGAGCTCGGCTGGGC c.1080
Y P Q V L Q | E A T F C V V L R G A R L G p.360
. . . . . . g.36369
CAGGCAGTATTGAGCGATGTGTTACAAGCTGGCTGTGTCCCGGTTGTCATTGCAGACTCC c.1140
Q A V L S D V L Q A G C V P V V I A D S p.380
. . . | 07 . . g.39518
TATATTTTGCCTTTCTCTGAAGTTCTTGACTGGAAGAG | AGCATCTGTGGTTGTACCAGAA c.1200
Y I L P F S E V L D W K R | A S V V V P E p.400
. . . . . . g.39578
GAAAAGATGTCAGATGTGTACAGTATTTTGCAGAGCATCCCCCAAAGACAGATTGAAGAA c.1260
E K M S D V Y S I L Q S I P Q R Q I E E p.420
. | 08 . . . . . g.81110
ATGCAGAGACAG | GCCCGGTGGTTCTGGGAAGCGTACTTCCAGTCAATTAAAGCCATTGCC c.1320
M Q R Q | A R W F W E A Y F Q S I K A I A p.440
. . . . . . g.81170
CTGGCCACCCTGCAGATTATCAATGACCGGATCTATCCATATGCTGCCATCTCCTATGAA c.1380
L A T L Q I I N D R I Y P Y A A I S Y E p.460
. . | 09 . . . . g.107316
GAATGGAATGACCCTCCTGCTGTG | AAGTGGGGCAGCGTGAGCAATCCACTCTTCCTCCCG c.1440
E W N D P P A V | K W G S V S N P L F L P p.480
. . . . . . g.107376
CTGATCCCACCACAGTCTCAAGGGTTCACCGCCATAGTCCTCACCTACGACCGAGTAGAG c.1500
L I P P Q S Q G F T A I V L T Y D R V E p.500
. . . . . . g.107436
AGCCTCTTCCGGGTCATCACTGAAGTGTCCAAGGTGCCCAGTCTATCCAAACTACTTGTC c.1560
S L F R V I T E V S K V P S L S K L L V p.520
. . . | 10 . . . g.116270
GTCTGGAATAATCAGAATAAAAACCCTCCAGAAG | ATTCTCTCTGGCCCAAAATCCGGGTT c.1620
V W N N Q N K N P P E D | S L W P K I R V p.540
. . . . . . g.116330
CCATTAAAAGTTGTGAGGACTGCTGAAAACAAGTTAAGTAACCGTTTCTTCCCTTATGAT c.1680
P L K V V R T A E N K L S N R F F P Y D p.560
. . . . . . g.116390
GAAATCGAGACAGAAGCTGTTCTGGCCATTGATGATGATATCATTATGCTGACCTCTGAC c.1740
E I E T E A V L A I D D D I I M L T S D p.580
. . | 11 . . . . g.141843
GAGCTGCAATTTGGTTATGAG | GTCTGGCGGGAATTTCCTGACCGGTTGGTGGGTTACCCG c.1800
E L Q F G Y E | V W R E F P D R L V G Y P p.600
. . . . . . g.141903
GGTCGTCTGCATCTCTGGGACCATGAGATGAATAAGTGGAAGTATGAGTCTGAGTGGACG c.1860
G R L H L W D H E M N K W K Y E S E W T p.620
. . . . | 12 . . g.143581
AATGAAGTGTCCATGGTGCTCACTGGGGCAGCTTTTTATCACAAG | TATTTTAATTACCTG c.1920
N E V S M V L T G A A F Y H K | Y F N Y L p.640
. . . . . . g.143641
TATACCTACAAAATGCCTGGGGATATCAAGAACTGGGTAGATGCTCATATGAACTGTGAA c.1980
Y T Y K M P G D I K N W V D A H M N C E p.660
. . . . . | 13 . g.145750
GATATTGCCATGAACTTCCTGGTGGCCAACGTCACGGGAAAAGCAGTTATCAAG | GTAACC c.2040
D I A M N F L V A N V T G K A V I K | V T p.680
. . . . . . g.145810
CCACGAAAGAAATTCAAGTGTCCTGAGTGCACAGCCATAGATGGGCTTTCACTAGACCAA c.2100
P R K K F K C P E C T A I D G L S L D Q p.700
. | 14. . . . . g.153643
ACACACATGGTGGAGAG | GTCAGAGTGCATCAACAAGTTTGCTTCAGTCTTCGGGACCATG c.2160
T H M V E R | S E C I N K F A S V F G T M p.720
. . . . . . g.153703
CCTCTCAAGGTGGTGGAACACCGAGCTGACCCTGTCCTGTACAAAGATGACTTTCCTGAG c.2220
P L K V V E H R A D P V L Y K D D F P E p.740
. . . g.153739
AAGCTGAAGAGCTTCCCCAACATTGGCAGCTTATGA c.2256
K L K S F P N I G S L X p.751
. . . . . . g.153799
aacgtgtcattggtggaggtctgaatgtgaggctgggacagagggagagaacaaggcctc c.*60
. . . . . . g.153859
ccagcactctgatgtcagagtagtaggttaagggtggaaggttgacctacttggatcttg c.*120
. . . . . . g.153919
gcatgcacccacctaacccactttctcaagaacaagaacctagaatgaatatccaagcac c.*180
. . . . . . g.153979
ctcgagctatgcaacctctgttcttgtatttcttatgatctctgatgggttcttctcgaa c.*240
. . . . . . g.154039
aatgccaagtggaagactttgtggcatgctccagatttaaatccagctgaggctcccttt c.*300
. . . . . . g.154099
gttttcagttccatgtaacaatctggaaggaaacttcacggacaggaagactgctggaga c.*360
. . . . . . g.154159
agagaagcgtgttagcccatttgaggtctggggaatcatgtaaagggtacccagacctca c.*420
. . . . . . g.154219
cttttagttatttacatcaatgagttctttcagggaaccaaacccagaattcggtgcaaa c.*480
. . . . . . g.154279
agccaaacatcttggtgggatttgataaatgccttgggacctggagtgctgggcttgtgc c.*540
. . . . . . g.154339
acaggaagagcaccagccgctgagtcaggatcctgtcagttccatgagctattcctcttt c.*600
. . . . . . g.154399
ggtttggctttttgatatgattaaaattattttttattcctttttctactgtgtcttaaa c.*660
. . . . . . g.154459
caccaattcctgatagtccaaggaaccacctttctcccttgatatatttaactccgtctt c.*720
. . . . . . g.154519
tggcctgacaacagtcttctgcccatgtctgggaacacacgccaggaggaatgtctgata c.*780
. . . . . . g.154579
ccctctgcatcaagcgtaagaaggtcccaaatcataaccattttaagaacagatgactca c.*840
. . . . . . g.154639
gaaacctccagaggaatctgtttgcttcctgattagatccagtcaatgttttaaaggtat c.*900
. . . . . . g.154699
tgtcagagaaaaacagagggtctgtactagccatgcaaggagtcgctctagctggtaccc c.*960
. . . . . . g.154759
gtaaaagttgtgggaattgtgacccccatcccaaggggatgccaaaatttctctcattct c.*1020
. . . . . . g.154819
tttggtataaacttaacattagccagggaggttctggctaacgttaaatgctgctataca c.*1080
. . . . . . g.154879
actgctttgcaacagttgctggtatatttaaatcattaaatttcagcatttactaatact c.*1140
g.154882
gca c.*1143
(downstream sequence)
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