(used for variant description)
(last modified August 4, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_001017420.2 in the ESCO2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008117.1, covering ESCO2 transcript NM_001017420.2.
(upstream sequence)
. . g.5023
attatttgaagacgctcacggag c.-61
. . . . . | 02 . g.5974
cggctggctaggctgaggagagctcgccgggctctgaggcgcag | gaattcaataaagaaa c.-1
. . . . . | 03 . g.6828
ATGGCAGCTCTTACTCCAAGGAAGAGGAAGCAGGATTCTTTGAAGTGTGACAG | CCTTTTA c.60
M A A L T P R K R K Q D S L K C D S | L L p.20
. . . . . . g.6888
CACTTCACTGAAAATCTGTTTCCATCACCTAATAAAAAGCACTGTTTTTATCAAAACAGT c.120
H F T E N L F P S P N K K H C F Y Q N S p.40
. . . . . . g.6948
GATAAAAATGAAGAAAACCTGCATTGCTCTCAACAAGAGCATTTTGTTTTAAGTGCGCTC c.180
D K N E E N L H C S Q Q E H F V L S A L p.60
. . . . . . g.7008
AAAACAACTGAAATAAATAGACTGCCATCAGCAAATCAAGGCTCACCATTTAAATCTGCG c.240
K T T E I N R L P S A N Q G S P F K S A p.80
. . . . . . g.7068
CTCTCCACTGTATCTTTTTACAACCAAAATAAGTGGTACCTCAATCCACTGGAGAGAAAG c.300
L S T V S F Y N Q N K W Y L N P L E R K p.100
. . . . . . g.7128
CTGATAAAAGAGAGTAGATCTACTTGTCTAAAAACTAATGATGAAGATAAATCTTTTCCC c.360
L I K E S R S T C L K T N D E D K S F P p.120
. . . . . . g.7188
ATTGTGACAGAAAAAATGCAAGGAAAACCAGTCTGCTCCAAGAAGAACAACAAAAAACCA c.420
I V T E K M Q G K P V C S K K N N K K P p.140
. . . . . . g.7248
CAGAAGAGTTTAACTGCTAAGTATCAACCAAAGTATAGACACATCAAGCCTGTATCAAGG c.480
Q K S L T A K Y Q P K Y R H I K P V S R p.160
. . . . . . g.7308
AATTCTAGAAATTCCAAGCAAAATCGAGTGATCTATAAGCCAATTGTGGAGAAGGAAAAT c.540
N S R N S K Q N R V I Y K P I V E K E N p.180
. . . . . . g.7368
AATTGTCATTCAGCTGAAAATAATTCCAATGCTCCTCGGGTTCTGAGCCAAAAAATAAAA c.600
N C H S A E N N S N A P R V L S Q K I K p.200
. . . . . . g.7428
CCACAAGTTACACTCCAGGGTGGAGCAGCATTTTTTGTTAGAAAAAAATCTTCTCTTAGA c.660
P Q V T L Q G G A A F F V R K K S S L R p.220
. . . . . . g.7488
AAATCGTCCCTGGAAAATGAGCCGTCACTGGGACGCACCCAAAAGAGTAAATCAGAAGTC c.720
K S S L E N E P S L G R T Q K S K S E V p.240
. . . . . . g.7548
ATTGAAGATTCTGATGTAGAGACTGTCAGTGAAAAAAAAACTTTTGCGACAAGGCAAGTG c.780
I E D S D V E T V S E K K T F A T R Q V p.260
. . . . . . g.7608
CCAAAGTGCTTGGTCCTAGAAGAGAAATTGAAAATTGGACTACTGAGTGCAAGCAGTAAA c.840
P K C L V L E E K L K I G L L S A S S K p.280
. . | 04 . . . . g.10672
AATAAAGAGAAATTAATAAAG | GATTCATCAGATGACAGAGTTTCTTCAAAGGAACATAAA c.900
N K E K L I K | D S S D D R V S S K E H K p.300
. . . . . | 05 . g.14464
GTTGATAAAAATGAGGCTTTTTCTTCAGAGGATTCTCTTGGTGAGAATAAGACAA | TTTCT c.960
V D K N E A F S S E D S L G E N K T I | S p.320
. . . . . | 06 . g.18351
CCTAAGTCCACTGTCTATCCAATCTTCAGTGCATCTTCAGTCAATTCAAAAAG | ATCTTTA c.1020
P K S T V Y P I F S A S S V N S K R | S L p.340
. . . . . . g.18411
GGTGAAGAACAGTTTTCTGTGGGATCTGTCAACTTCATGAAACAGACCAATATCCAGAAA c.1080
G E E Q F S V G S V N F M K Q T N I Q K p.360
. . . . . | 07 . g.19315
AATACTAATACCAGAGATACAAGTAAAAAAACAAAAGACCAGCTCATCATC | GACGCTGGT c.1140
N T N T R D T S K K T K D Q L I I | D A G p.380
. . . . . . g.19375
CAGAAACATTTTGGGGCTACTGTGTGCAAGTCTTGTGGTATGATATATACTGCTTCCAAC c.1200
Q K H F G A T V C K S C G M I Y T A S N p.400
. . . . . . g.19435
CCTGAAGATGAAATGCAGCATGTACAGCATCACCACAGGTTTCTGGAAGGAATCAAATAT c.1260
P E D E M Q H V Q H H H R F L E G I K Y p.420
| 08 . . . . . . g.22479
GTG | GGTTGGAAGAAAGAACGTGTAGTAGCAGAGTTTTGGGATGGGAAAATCGTGTTGGTT c.1320
V | G W K K E R V V A E F W D G K I V L V p.440
. . . | 09 . . . g.23154
CTGCCACATGATCCAAGCTTTGCTATCAAAAAG | GTAGAAGATGTCCAAGAACTTGTTGAT c.1380
L P H D P S F A I K K | V E D V Q E L V D p.460
. . . . . . g.23214
AATGAATTGGGCTTCCAGCAAGTTGTTCCTAAATGTCCAAACAAAATAAAAACTTTTCTT c.1440
N E L G F Q Q V V P K C P N K I K T F L p.480
. . . . . | 10. g.30003
TTTATATCTGATGAAAAGAGAGTAGTTGGGTGTTTAATTGCAGAACCCATCAAACAG | GCA c.1500
F I S D E K R V V G C L I A E P I K Q | A p.500
. . . . . . g.30063
TTTCGTGTCCTGTCTGAACCAATTGGTCCAGAATCCCCAAGCTCTACGGAATGTCCTAGG c.1560
F R V L S E P I G P E S P S S T E C P R p.520
. . . . . . g.30123
GCTTGGCAATGTTCAGATGTACCAGAACCTGCAGTCTGTGGGATAAGTAGAATCTGGGTT c.1620
A W Q C S D V P E P A V C G I S R I W V p.540
. . . . . | 11 . g.33772
TTCAGACTGAAGAGAAGAAAGCGCATTGCAAGACGACTGGTTGATACCCTCAG | GAATTGC c.1680
F R L K R R K R I A R R L V D T L R | N C p.560
. . . . . . g.33832
TTCATGTTTGGCTGTTTTCTCAGCACTGATGAAATAGCATTTTCTGACCCAACACCAGAT c.1740
F M F G C F L S T D E I A F S D P T P D p.580
. . . . . . g.33892
GGCAAGTTATTTGCAACCAAGTACTGCAACACCCCTAATTTCCTCGTATATAATTTTAAT c.1800
G K L F A T K Y C N T P N F L V Y N F N p.600
g.33898
AGTTAA c.1806
S X p.601
. . . . . . g.33958
agctgatttcagttataaaggagttactatctggataagttcaaagagctccttattata c.*60
. . . . . . g.34018
aaatacaaactatttaatatcaaaataaaaaataccgagactcacactcatacacacaca c.*120
. . . . . . g.34078
cacacacacgcacacacacatatcacagttttgttccttatgagttgaaaagtcaggaat c.*180
. . . . . . g.34138
aaatttgttgaaaattatctggggattcaaaggaaaaatctttgggtgattccctgatta c.*240
. . . . . . g.34198
gcactctgaatgtttaattatgaaactttgtagctataactggaaaattacctgactctt c.*300
. . . . . . g.34258
tgtaagagtattaaatacaaagtgatttttctctagaaatgtgacctggtcttttataaa c.*360
. . . . . . g.34318
gcccactcttagaccaggattatctaatgccacatcagaagcaaacaggcaaatttaaac c.*420
. . . . . . g.34378
ttgggcaagtaatttctgtgcccaatttgtaaagggaattcctgaatttttttttttttt c.*480
. . . . . . g.34438
taatagaggcatgggtctcactgtgttgcccaggctggtctgaaacttttgggctcaagc c.*540
. . . . . . g.34498
gatcctcccaaaacgctgggattacagtcatgagccaccgtgcccagcctaattcctgac c.*600
. . . . . . g.34558
ttctctatacagagtcttcacttgataggcactcgtctgtagtaactcagtttgaatatc c.*660
. . . . . . g.34618
tttagaaaatgtttagaatttatttgtaacaagatggtaaggaataagattatcccatat c.*720
. . . . . . g.34678
gcatttctgtagagcagaatttgatagcttagtgttcaatctttttgaaaataaatgttt c.*780
. . . . . . g.34738
acctgtcatcagatttaattaaaattatacttagtaattgcactattacttagttaattt c.*840
. . . . . . g.34798
ttgttgtatggaaatattggtagtactactttgggaacctgttactgacaattgatgtca c.*900
. . . . . . g.34858
ttaacaaaatgcctagttggattagatgttttcattttctaattttttgcttgtttaaaa c.*960
. . . . . . g.34918
tgcaccttacttgttctgagatacctggcaaaagtctttacaaaatgtatggtaatagaa c.*1020
. . . . . . g.34978
ccaaggttagtaaatatacataggctggtggatgagagaccatggaactgtgtaaataca c.*1080
. . . . . . g.35038
cttaaatgttcacacatttttctagtgtaattcttggatactttaaaaagcaaaacattg c.*1140
. . . . . . g.35098
ttcaaattgttttgattctgaaaaatcattcaactgctaactggcaataagactctaggc c.*1200
. . . . . . g.35158
aagtcgttttccagattgtaattatatgtagaaactattcatctgcattcattttatttg c.*1260
. . . . . . g.35218
cctgtaagttaacatgtttccaaaatttaaaagcctgggtccccaaaagaatgtggaagt c.*1320
. . . . . . g.35278
attaaaatgtatgtaattatgcaaacattttaatgctattttctgcacttatttctttta c.*1380
. . . . . . g.35338
aatattttatttaaaatttttaattaacattttgtttgcttaatgcttttgttatgaatc c.*1440
. . . g.35368
aattaaaattctttattttatacaactaaa c.*1470
(downstream sequence)
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