(used for variant description)
(last modified February 5, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_000399.3 in the EGR2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008936.2, covering EGR2 transcript NM_000399.3.
(upstream sequence)
. . . g.108571
aactgagcgaggagcaattgattaatagctcggcgag c.-301
. . . . . . g.108631
gggactcactgactgttataataacactacaccagcaactcctggcttcccagcagccgg c.-241
. . . . . . g.108691
aacacagacaggagagagtcagtggcaaatagacatttttcttatttcttaaaaaacagc c.-181
. . . . . . g.108751
aacttgtttgctacttttatttctgttgatttttttttcttggtgtgtgtggtggttgtt c.-121
. . . . . . g.108811
tttaagtgtggagggcaaaaggagataccatcccaggctcagtccaacccctctccaaaa c.-61
. . . . . . g.108871
cggcttttctgacactccaggtagcgagggagttgggtctccaggttgtgcgaggagcaa c.-1
. . . . . . g.108931
ATGATGACCGCCAAGGCCGTAGACAAAATCCCAGTAACTCTCAGTGGTTTTGTGCACCAG c.60
M M T A K A V D K I P V T L S G F V H Q p.20
. . . . . . g.108991
CTGTCTGACAACATCTACCCGGTGGAGGACCTCGCCGCCACGTCGGTGACCATCTTTCCC c.120
L S D N I Y P V E D L A A T S V T I F P p.40
. . . . | 02 . g.110443
AATGCCGAACTGGGAGGCCCCTTTGACCAGATGAACGGAGTGGCCGGAG | ATGGCATGATC c.180
N A E L G G P F D Q M N G V A G D | G M I p.60
. . . . . . g.110503
AACATTGACATGACTGGAGAGAAGAGGTCGTTGGATCTCCCATATCCCAGCAGCTTTGCT c.240
N I D M T G E K R S L D L P Y P S S F A p.80
. . . . . . g.110563
CCCGTCTCTGCACCTAGAAACCAGACCTTCACTTACATGGGCAAGTTCTCCATTGACCCT c.300
P V S A P R N Q T F T Y M G K F S I D P p.100
. . . . . . g.110623
CAGTACCCTGGTGCCAGCTGCTACCCAGAAGGCATAATCAATATTGTGAGTGCAGGCATC c.360
Q Y P G A S C Y P E G I I N I V S A G I p.120
. . . . . . g.110683
TTGCAAGGGGTCACTTCCCCAGCTTCAACCACAGCCTCATCCAGCGTCACCTCTGCCTCC c.420
L Q G V T S P A S T T A S S S V T S A S p.140
. . . . . . g.110743
CCCAACCCACTGGCCACAGGACCCCTGGGTGTGTGCACCATGTCCCAGACCCAGCCTGAC c.480
P N P L A T G P L G V C T M S Q T Q P D p.160
. . . . . . g.110803
CTGGACCACCTGTACTCTCCGCCACCGCCTCCTCCTCCTTATTCTGGCTGTGCAGGAGAC c.540
L D H L Y S P P P P P P P Y S G C A G D p.180
. . . . . . g.110863
CTCTACCAGGACCCTTCTGCGTTCCTGTCAGCAGCCACCACCTCCACCTCTTCCTCTCTG c.600
L Y Q D P S A F L S A A T T S T S S S L p.200
. . . . . . g.110923
GCCTACCCACCACCTCCTTCCTATCCATCCCCCAAGCCAGCCACGGACCCAGGTCTCTTC c.660
A Y P P P P S Y P S P K P A T D P G L F p.220
. . . . . . g.110983
CCAATGATCCCAGACTATCCTGGATTCTTTCCATCTCAGTGCCAGAGAGACCTACATGGT c.720
P M I P D Y P G F F P S Q C Q R D L H G p.240
. . . . . . g.111043
ACAGCTGGCCCAGACCGTAAGCCCTTTCCCTGCCCACTGGACACCCTGCGGGTGCCCCCT c.780
T A G P D R K P F P C P L D T L R V P P p.260
. . . . . . g.111103
CCACTCACTCCACTCTCTACAATCCGTAACTTTACCCTGGGGGGCCCCAGTGCTGGGGTG c.840
P L T P L S T I R N F T L G G P S A G V p.280
. . . . . . g.111163
ACCGGACCAGGGGCCAGTGGAGGCAGCGAGGGACCCCGGCTGCCTGGTAGCAGCTCAGCA c.900
T G P G A S G G S E G P R L P G S S S A p.300
. . . . . . g.111223
GCAGCAGCAGCCGCCGCCGCCGCCGCCTATAACCCACACCACCTGCCACTGCGGCCCATT c.960
A A A A A A A A A Y N P H H L P L R P I p.320
. . . . . . g.111283
CTGAGGCCTCGCAAGTACCCCAACAGACCCAGCAAGACGCCGGTGCACGAGAGGCCCTAC c.1020
L R P R K Y P N R P S K T P V H E R P Y p.340
. . . . . . g.111343
CCGTGCCCAGCAGAAGGCTGCGACCGGCGGTTCTCCCGCTCTGACGAGCTGACACGGCAC c.1080
P C P A E G C D R R F S R S D E L T R H p.360
. . . . . . g.111403
ATCCGAATCCACACTGGGCATAAGCCCTTCCAGTGTCGGATCTGCATGCGCAACTTCAGC c.1140
I R I H T G H K P F Q C R I C M R N F S p.380
. . . . . . g.111463
CGCAGTGACCACCTCACCACCCATATCCGCACCCACACCGGTGAGAAGCCCTTCGCCTGT c.1200
R S D H L T T H I R T H T G E K P F A C p.400
. . . . . . g.111523
GACTACTGTGGCCGAAAGTTTGCCCGGAGTGATGAGAGGAAGCGCCACACCAAGATCCAC c.1260
D Y C G R K F A R S D E R K R H T K I H p.420
. . . . . . g.111583
CTGAGACAGAAAGAGCGGAAAAGCAGTGCCCCCTCTGCATCGGTGCCAGCCCCCTCTACA c.1320
L R Q K E R K S S A P S A S V P A P S T p.440
. . . . . . g.111643
GCCTCCTGCTCTGGGGGCGTGCAGCCTGGGGGTACCCTGTGCAGCAGTAACAGCAGCAGT c.1380
A S C S G G V Q P G G T L C S S N S S S p.460
. . . . . g.111694
CTTGGCGGAGGGCCGCTCGCCCCTTGCTCCTCTCGGACCCGGACACCTTGA c.1431
L G G G P L A P C S S R T R T P X p.476
. . . . . . g.111754
gatgagactcaggctgatacaccagctcccaaaggtcccggaggccctttgtccactgga c.*60
. . . . . . g.111814
gctgcacaacaaacactaccaccctttcctgtccctctctccctttgttgggcaaagggc c.*120
. . . . . . g.111874
tttggtggagctagcactgccccctttccacctagaagcaggttcttcctaaaacttagc c.*180
. . . . . . g.111934
ccattctagtctctcttaggtgagttgactatcaacccaaggcaaaggggaggctcagaa c.*240
. . . . . . g.111994
ggaggtggtgtggggacccctggccaagagggctgaggtctgaccctgctttaaagggtt c.*300
. . . . . . g.112054
gtttgactaggttttgctaccccacttccccttattttgacccatcacaggtttttgacc c.*360
. . . . . . g.112114
ctggatgtcagagttgatctaagacgttttctacaataggttgggagatgctgatccctt c.*420
. . . . . . g.112174
caagtggggacagcaaaaagacaagcaaaactgatgtgcactttatggcttgggactgat c.*480
. . . . . . g.112234
ttgggggacattgtacagtgagtgaagtatagcctttatgccacactctgtggccctaaa c.*540
. . . . . . g.112294
atggtgaatcagagcatatctagttgtctcaacccttgaagcaatatgtattataaactc c.*600
. . . . . . g.112354
agagaacagaagtgcaatgtgatgggaggaacatagcaatatctgctccttttcgagttg c.*660
. . . . . . g.112414
tttgagaaatgtaggctattttttcagtgtatatccactcagattttgtgtatttttgat c.*720
. . . . . . g.112474
gtacactgttctctaaattctgaatctttgggaaaaaatgtaaagcatttatgatctcag c.*780
. . . . . . g.112534
aggttaacttatttaagggggatgtacatatattctctgaaactaggatgcatgcaattg c.*840
. . . . . . g.112594
tgttggaagtgtccttggtgccttgtgtgatgtagacaatgttacaaggtctgcatgtaa c.*900
. . . . . . g.112654
atgggttgccttattatggagaaaaaaatcactccctgagtttagtatggctgtatattt c.*960
. . . . . . g.112714
ctgcctattaatatttggaattttttttagaaagtatatttttgtatgctttgttttgtg c.*1020
. . . . . . g.112774
acttaaaagtgttacctttgtagtcaaatttcagataagaatgtacataatgttaccgga c.*1080
. . . . . . g.112834
gctgatttgtttggtcattagctcttaatagttgtgaaaaaataaatctattctaacgca c.*1140
. . . . . . g.112894
aaaccactaactgaagttcagataatggatggtttgtgactatagtgtaaataaatactt c.*1200
. g.112904
ttcaacaata c.*1210
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 21b
©2004-2019 Leiden University Medical Center