(used for variant description)
(last modified October 7, 2022)
This file was created to facilitate the description of sequence variants on transcript NM_207122.1 in the EXT2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000011.9, covering EXT2 transcript NM_207122.1.
(upstream sequence)
. . . g.5034
ctgtctgagcatttcactgcggagcctgagcgcg c.-301
. . . . . . g.5094
cctgcctgggaaaacactgcagcggtgctcggactcctcctgtccagcaggaggcgcggc c.-241
. . . . . . g.5154
ccggcagctcccgcatgcgcagtgcgctcggtgtcagacggcccggatcccggttaccgg c.-181
. . . . . . g.5214
cccctcgctcgctgctcgccagcccagactcggccctggcagtggcggctggcgattcgg c.-121
. . . . . . g.5274
accgatccgacctgggcggaggtggcccgcgccccgcggcatgagccggtgaccaagctc c.-61
. . . | 02 . . g.17164
ggggccgagcgggaggcagccgtggccgag | gagtgtgaggaagaggctgtctgtgtcatt c.-1
. . . . . . g.17224
ATGTGTGCGTCGGTCAAGTATAATATCCGGGGTCCTGCCCTCATCCCAAGAATGAAGACC c.60
M C A S V K Y N I R G P A L I P R M K T p.20
. . . . . . g.17284
AAGCACCGAATCTACTATATCACCCTCTTCTCCATTGTCCTCCTGGGCCTCATTGCCACT c.120
K H R I Y Y I T L F S I V L L G L I A T p.40
. . . . . . g.17344
GGCATGTTTCAGTTTTGGCCCCATTCTATCGAGTCCTCAAATGACTGGAATGTAGAGAAG c.180
G M F Q F W P H S I E S S N D W N V E K p.60
. . . . . . g.17404
CGCAGCATCCGTGATGTGCCGGTTGTTAGGCTGCCAGCCGACAGTCCCATCCCAGAGCGG c.240
R S I R D V P V V R L P A D S P I P E R p.80
. . . . . . g.17464
GGGGATCTCAGTTGCAGAATGCACACGTGTTTTGATGTCTATCGCTGTGGCTTCAACCCA c.300
G D L S C R M H T C F D V Y R C G F N P p.100
. . . . . . g.17524
AAGAACAAAATCAAGGTGTATATCTATGCTCTGAAAAAGTACGTGGATGACTTTGGCGTC c.360
K N K I K V Y I Y A L K K Y V D D F G V p.120
. . . . . . g.17584
TCTGTCAGCAACACCATCTCCCGGGAGTATAATGAACTGCTCATGGCCATCTCAGACAGT c.420
S V S N T I S R E Y N E L L M A I S D S p.140
. . . . . . g.17644
GACTACTACACTGATGACATCAACCGGGCCTGTCTGTTTGTTCCCTCCATCGATGTGCTT c.480
D Y Y T D D I N R A C L F V P S I D V L p.160
. . . . . | 03 . g.18649
AACCAGAACACACTGCGCATCAAGGAGACAGCACAAGCGATGGCCCAGCTCTCTAG | GTGG c.540
N Q N T L R I K E T A Q A M A Q L S R | W p.180
. . . . . . g.18709
GATCGAGGTACGAATCACCTGTTGTTCAACATGTTGCCTGGAGGTCCCCCAGATTATAAC c.600
D R G T N H L L F N M L P G G P P D Y N p.200
. . | 04 . . . . g.23670
ACAGCCCTGGATGTCCCCAGAGACAG | GGCCCTGTTGGCTGGTGGCGGCTTTTCTACGTGG c.660
T A L D V P R D R | A L L A G G G F S T W p.220
. . . . . . g.23730
ACTTACCGGCAAGGCTACGATGTCAGCATTCCTGTCTATAGTCCACTGTCAGCTGAGGTG c.720
T Y R Q G Y D V S I P V Y S P L S A E V p.240
. . | 05 . . . . g.34277
GATCTTCCAGAGAAAGGACCAGG | TCCACGGCAATACTTCCTCCTGTCATCTCAGGTGGGT c.780
D L P E K G P G | P R Q Y F L L S S Q V G p.260
. . . . . . g.34337
CTCCATCCTGAGTACAGAGAGGACCTAGAAGCCCTCCAGGTCAAACATGGAGAGTCAGTG c.840
L H P E Y R E D L E A L Q V K H G E S V p.280
. . . . . . g.34397
TTAGTACTCGATAAATGCACCAACCTCTCAGAGGGTGTCCTTTCTGTCCGTAAGCGCTGC c.900
L V L D K C T N L S E G V L S V R K R C p.300
. . . | 06 . . g.36288
CACAAGCACCAGGTCTTCGATTACCCACAGGTGCTACAG | GAGGCTACTTTCTGTGTGGTT c.960
H K H Q V F D Y P Q V L Q | E A T F C V V p.320
. . . . . . g.36348
CTTCGTGGAGCTCGGCTGGGCCAGGCAGTATTGAGCGATGTGTTACAAGCTGGCTGTGTC c.1020
L R G A R L G Q A V L S D V L Q A G C V p.340
. . . . . | 07 g.39497
CCGGTTGTCATTGCAGACTCCTATATTTTGCCTTTCTCTGAAGTTCTTGACTGGAAGAG | A c.1080
P V V I A D S Y I L P F S E V L D W K R | p.360
. . . . . . g.39557
GCATCTGTGGTTGTACCAGAAGAAAAGATGTCAGATGTGTACAGTATTTTGCAGAGCATC c.1140
A S V V V P E E K M S D V Y S I L Q S I p.380
. . . | 08 . . . g.81089
CCCCAAAGACAGATTGAAGAAATGCAGAGACAG | GCCCGGTGGTTCTGGGAAGCGTACTTC c.1200
P Q R Q I E E M Q R Q | A R W F W E A Y F p.400
. . . . . . g.81149
CAGTCAATTAAAGCCATTGCCCTGGCCACCCTGCAGATTATCAATGACCGGATCTATCCA c.1260
Q S I K A I A L A T L Q I I N D R I Y P p.420
. . . . | 09 . . g.107295
TATGCTGCCATCTCCTATGAAGAATGGAATGACCCTCCTGCTGTG | AAGTGGGGCAGCGTG c.1320
Y A A I S Y E E W N D P P A V | K W G S V p.440
. . . . . . g.107355
AGCAATCCACTCTTCCTCCCGCTGATCCCACCACAGTCTCAAGGGTTCACCGCCATAGTC c.1380
S N P L F L P L I P P Q S Q G F T A I V p.460
. . . . . . g.107415
CTCACCTACGACCGAGTAGAGAGCCTCTTCCGGGTCATCACTGAAGTGTCCAAGGTGCCC c.1440
L T Y D R V E S L F R V I T E V S K V P p.480
. . . . . | 10 . g.116249
AGTCTATCCAAACTACTTGTCGTCTGGAATAATCAGAATAAAAACCCTCCAGAAG | ATTCT c.1500
S L S K L L V V W N N Q N K N P P E D | S p.500
. . . . . . g.116309
CTCTGGCCCAAAATCCGGGTTCCATTAAAAGTTGTGAGGACTGCTGAAAACAAGTTAAGT c.1560
L W P K I R V P L K V V R T A E N K L S p.520
. . . . . . g.116369
AACCGTTTCTTCCCTTATGATGAAATCGAGACAGAAGCTGTTCTGGCCATTGATGATGAT c.1620
N R F F P Y D E I E T E A V L A I D D D p.540
. . . . | 11 . . g.141822
ATCATTATGCTGACCTCTGACGAGCTGCAATTTGGTTATGAG | GTCTGGCGGGAATTTCCT c.1680
I I M L T S D E L Q F G Y E | V W R E F P p.560
. . . . . . g.141882
GACCGGTTGGTGGGTTACCCGGGTCGTCTGCATCTCTGGGACCATGAGATGAATAAGTGG c.1740
D R L V G Y P G R L H L W D H E M N K W p.580
. . . . . . g.141942
AAGTATGAGTCTGAGTGGACGAATGAAGTGTCCATGGTGCTCACTGGGGCAGCTTTTTAT c.1800
K Y E S E W T N E V S M V L T G A A F Y p.600
| 12 . . . . . . g.143620
CACAAG | TATTTTAATTACCTGTATACCTACAAAATGCCTGGGGATATCAAGAACTGGGTA c.1860
H K | Y F N Y L Y T Y K M P G D I K N W V p.620
. . . . . . g.143680
GATGCTCATATGAACTGTGAAGATATTGCCATGAACTTCCTGGTGGCCAACGTCACGGGA c.1920
D A H M N C E D I A M N F L V A N V T G p.640
. | 13 . . . . . g.145789
AAAGCAGTTATCAAG | GTAACCCCACGAAAGAAATTCAAGTGTCCTGAGTGCACAGCCATA c.1980
K A V I K | V T P R K K F K C P E C T A I p.660
. . . | 14 . . g.153622
GATGGGCTTTCACTAGACCAAACACACATGGTGGAGAG | GTCAGAGTGCATCAACAAGTTT c.2040
D G L S L D Q T H M V E R | S E C I N K F p.680
. . . . . . g.153682
GCTTCAGTCTTCGGGACCATGCCTCTCAAGGTGGTGGAACACCGAGCTGACCCTGTCCTG c.2100
A S V F G T M P L K V V E H R A D P V L p.700
. . . . . g.153739
TACAAAGATGACTTTCCTGAGAAGCTGAAGAGCTTCCCCAACATTGGCAGCTTATGA c.2157
Y K D D F P E K L K S F P N I G S L X p.718
. . . . . . 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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