(used for variant description)
(last modified August 25, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_022772.3 in the EPS8L2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_051601.1, covering EPS8L2 transcript NM_022772.3.
(upstream sequence)
g.5910
actccgc c.-241
. . . . . . g.5970
aacctgtcgctcaggttcctcctctcccggccccgccccggcccggccccgccgagcgtc c.-181
. . . . . . g.6030
ccacccgcccgcgggagacctggcgccccggccgaggcgcgaacagacggacgcaccggc c.-121
. . . . . | 02 . g.9131
gagcgccgaggggacaggccgagcgcggggcgccggaggcag | gtgtgggacaggcactgg c.-61
. . . . . . g.9191
cctcagaccggggccacactgaggtctgcccttctcccgctggccgccacccaagacacc c.-1
. . . . | 03 . . g.9352
ATGAGCCAGTCCGGGGCCGTGAGCTGCTGCCCGGGTGCCACCAA | TGGCAGCCTGGGCCGG c.60
M S Q S G A V S C C P G A T N | G S L G R p.20
. . . . | 04 . . g.10225
TCCGACGGTGTGGCCAAGATGAGCCCCAAGGACCTGTTTG | AGCAGAGGAAGAAGTATTCC c.120
S D G V A K M S P K D L F E | Q R K K Y S p.40
. . . . | 05 . . g.19860
AACTCCAACGTCATCATGCACGAGACCTCGCAGTACCACGTCCAG | CACCTGGCCACATTC c.180
N S N V I M H E T S Q Y H V Q | H L A T F p.60
. . . . . . g.19920
ATCATGGACAAGAGCGAAGCCATCACGTCTGTGGACGACGCCATCCGGAAGCTGGTGCAG c.240
I M D K S E A I T S V D D A I R K L V Q p.80
. . . . . . g.19980
CTGAGCTCCAAGGAGAAGATCTGGACCCAGGAGATGCTGCTGCAGGTGAACGACCAGTCG c.300
L S S K E K I W T Q E M L L Q V N D Q S p.100
. . | 06. . . . g.20413
CTGCGGCTGCTGGACATCGAGTCACAG | GAGGAGCTGGAAGACTTCCCGCTGCCCACGGTG c.360
L R L L D I E S Q | E E L E D F P L P T V p.120
. . . . . . g.20473
CAGCGCAGCCAGACGGTCCTCAACCAGCTGCGCTACCCGTCTGTGCTGCTGCTCGTGTGC c.420
Q R S Q T V L N Q L R Y P S V L L L V C p.140
. . . . . | 07. g.20616
CAGGACTCGGAGCAGAGCAAGCCGGATGTCCACTTCTTCCACTGCGATGAGGTGGAG | GCA c.480
Q D S E Q S K P D V H F F H C D E V E | A p.160
. . . . . . g.20676
GAGCTGGTGCACGAGGACATCGAGAGCGCGTTGGCCGACTGCCGGCTGGGCAAGAAGATG c.540
E L V H E D I E S A L A D C R L G K K M p.180
. | 08. . . . . g.20890
CGGCCGCAGACCCTGAA | GGGACACCAGGAGAAGATTCGGCAGCGGCAGTCCATCCTGCCT c.600
R P Q T L K | G H Q E K I R Q R Q S I L P p.200
. . . . . . g.20950
CCTCCCCAGGGCCCGGCGCCCATCCCCTTCCAGCACCGCGGCGGGGATTCCCCGGAGGCC c.660
P P Q G P A P I P F Q H R G G D S P E A p.220
. . . . | 09 . . g.21088
AAGAATCGCGTGGGCCCGCAGGTGCCACTCAGCGAGCCAG | GTTTCCGCCGTCGGGAGTCG c.720
K N R V G P Q V P L S E P G | F R R R E S p.240
. . . . | 10 . g.21360
CAGGAGGAGCCGCGGGCCGTGCTGGCTCAGAAGATAGAGAAGGAGACG | CAAATCCTCAAC c.780
Q E E P R A V L A Q K I E K E T | Q I L N p.260
. . . . . . g.21420
TGCGCCCTGGACGACATCGAGTGGTTTGTGGCCCGGCTGCAGAAGGCAGCCGAGGCTTTC c.840
C A L D D I E W F V A R L Q K A A E A F p.280
. . . . . | 11 . g.21691
AAGCAGCTGAACCAGCGGAAAAAGGGGAAGAAGAAGGGCAAGAAGGCGCCAGCAG | AGGGC c.900
K Q L N Q R K K G K K K G K K A P A E | G p.300
. . . . . . g.21751
GTCCTCACACTGCGGGCACGGCCCCCCTCTGAGGGCGAGTTCATCGACTGCTTCCAGAAA c.960
V L T L R A R P P S E G E F I D C F Q K p.320
. . | 12 . . . . g.21910
ATCAAGCTGGCGATTAACTTGCTG | GCAAAGCTGCAGAAGCACATCCAGAACCCCAGCGCC c.1020
I K L A I N L L | A K L Q K H I Q N P S A p.340
. . . | 13 . . g.22205
GCGGAGCTCGTGCACTTCCTCTTCGGGCCTCTGGACCTG | ATCGTCAACACCTGCAGTGGC c.1080
A E L V H F L F G P L D L | I V N T C S G p.360
. . . . . . g.22265
CCAGACATCGCACGCTCCGTCTCCTGCCCACTGCTCTCCCGAGATGCCGTGGACTTCCTG c.1140
P D I A R S V S C P L L S R D A V D F L p.380
. . . . . . g.22325
CGCGGCCACCTGGTCCCTAAGGAGATGTCGCTGTGGGAGTCACTGGGAGAGAGCTGGATG c.1200
R G H L V P K E M S L W E S L G E S W M p.400
| 14 . . . . . g.22508
CGGCCCCG | TTCCGAGTGGCCGCGGGAGCCACAGGTGCCCCTCTACGTGCCCAAGTTCCAC c.1260
R P R | S E W P R E P Q V P L Y V P K F H p.420
. . . . . . g.22568
AGCGGCTGGGAGCCTCCTGTGGATGTGCTGCAGGAGGCCCCCTGGGAGGTGGAGGGGCTG c.1320
S G W E P P V D V L Q E A P W E V E G L p.440
. . | 15 . . . . g.23063
GCGTCTGCCCCCATCGAGGAG | GTGAGTCCAGTGAGCCGACAGTCCATAAGAAACTCCCAG c.1380
A S A P I E E | V S P V S R Q S I R N S Q p.460
. . . . . . g.23123
AAGCACAGCCCCACTTCAGAGCCCACCCCCCCGGGGGATGCCCTACCACCAGTCAGCTCC c.1440
K H S P T S E P T P P G D A L P P V S S p.480
. | 16 . . . . . g.24553
CCACATACTCACAG | GGGCTACCAGCCAACACCAGCCATGGCCAAGTACGTCAAGATCCTG c.1500
P H T H R | G Y Q P T P A M A K Y V K I L p.500
. . . . . . g.24613
TATGACTTCACAGCCCGAAATGCCAACGAGCTATCGGTGCTCAAGGATGAGGTCCTAGAG c.1560
Y D F T A R N A N E L S V L K D E V L E p.520
| 17 . . . . . . g.25571
| GTGCTGGAGGACGGCCGGCAGTGGTGGAAGCTGCGCAGCCGCAGCGGCCAGGCGGGGTAC c.1620
| V L E D G R Q W W K L R S R S G Q A G Y p.540
. . . . . . g.25631
GTGCCCTGCAACATCCTAGGCGAGGCGCGACCGGAGGACGCCGGCGCCCCGTTCGAGCAG c.1680
V P C N I L G E A R P E D A G A P F E Q p.560
| 18 . . . . . . g.25941
| GCCGGTCAGAAGTACTGGGGCCCCGCCAGCCCGACCCACAAGCTACCCCCAAGCTTCCCG c.1740
| A G Q K Y W G P A S P T H K L P P S F P p.580
. | 19 . . . . . g.26134
GGGAACAAAGACG | AGCTCATGCAGCACATGGACGAGGTCAACGACGAGCTCATCCGGAAA c.1800
G N K D E | L M Q H M D E V N D E L I R K p.600
. . . . . . g.26194
ATCAGCAACATCAGGGCGCAGCCACAGAGGCACTTCCGCGTGGAGCGCAGCCAGCCCGTG c.1860
I S N I R A Q P Q R H F R V E R S Q P V p.620
. . . . . . g.26254
AGCCAGCCGCTCACCTACGAGTCGGGTCCGGACGAGGTCCGCGCCTGGCTGGAAGCCAAG c.1920
S Q P L T Y E S G P D E V R A W L E A K p.640
. | 20 . . . . . g.26448
GCCTTCAGCCCGCG | GATCGTGGAGAACCTGGGCATCCTGACCGGGCCGCAGCTCTTCTCC c.1980
A F S P R | I V E N L G I L T G P Q L F S p.660
. . . . . . g.26508
CTCAACAAGGAGGAGCTGAAGAAAGTGTGCGGCGAGGAGGGCGTCCGCGTGTACAGCCAG c.2040
L N K E E L K K V C G E E G V R V Y S Q p.680
. . | 21. . . . g.26717
CTCACCATGCAGAAGGCCTTCCTGGAG | AAGCAGCAAAGTGGGTCGGAGCTGGAAGAACTC c.2100
L T M Q K A F L E | K Q Q S G S E L E E L p.700
. . . . g.26765
ATGAACAAGTTTCATTCCATGAATCAGAGGAGGGGGGAGGACAGCTAG c.2148
M N K F H S M N Q R R G E D S X p.715
. . . . . . g.26825
gcccagctgccttgggctggggcctgcggaggggaagcccacccacaatgcatggagtat c.*60
. . . . . . g.26885
tatttttatatgtgtatgtattttgtatcaaggacacggagggggtgtggtgctggctag c.*120
. . . . . . g.26945
aggtccctgcccctgtctggaggcacaacgcccatccttaggccaaacagtacccaaggc c.*180
. . . . . . g.27005
ctcagcccacaccaagactaatctcagccaaacctgctgcttggtggtgccagccccttg c.*240
. . . . . . g.27065
tccaccttctcttgaggccacagaactccctggggctggggcctctttctctggcctccc c.*300
. . . . . . g.27125
ctgtgcacctggggggtcctggcccctgtgatgctcccccatccccacccacttctacat c.*360
. . . . . . g.27185
ccatccacaccccagggtgagctggagctccaggctggccaggctgaacctcgcacacac c.*420
. . . . . . g.27245
gcagagttctgctccctgaggggggcccgggaggggctccagcaggaggccgtgggtgcc c.*480
. . . . . . g.27305
attcgggggaaagtgggggaacgacacacacttcacctgcaagggccgacaacgcagggg c.*540
. . . . . . g.27365
acaccgtgccggcttcagacactcccagcgcccactcttacaggcccaggactggagctt c.*600
. . . . . . g.27425
tctctggccaagtttcaggccaatgatccccgcatggtgttgggggtgctggtgtgtctt c.*660
. . . . . . g.27485
ggtgcctggacttgagtctcaccctacagatgagaggtggctgaggcaccagggctaagc c.*720
. . g.27511
aattaaaccagttaagtctcccagga c.*746
(downstream sequence)
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