(used for variant description)
(last modified February 12, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_181336.3 in the LEMD2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_053042.1, covering LEMD2 transcript NM_181336.3.
(upstream sequence)
. g.10158
cggcgtcctggcc c.-1
. . . . . . g.10218
ATGGCCGGCCTGTCGGACCTGGAACTGCGGCGGGAGCTGCAGGCCCTGGGCTTCCAGCCA c.60
M A G L S D L E L R R E L Q A L G F Q P p.20
. . . . . . g.10278
GGACCCATCACCGACACCACCCGGGATGTCTACCGCAACAAGCTGCGCCGCCTGCGGGGC c.120
G P I T D T T R D V Y R N K L R R L R G p.40
. . . . . . g.10338
GAGGCCCGGCTGCGCGACGAGGAGCGGCTGCGGGAGGAGGCCCGGCCGCGGGGCGAGGAG c.180
E A R L R D E E R L R E E A R P R G E E p.60
. . . . . . g.10398
CGGTTACGGGAAGAGGCCCGGTTACGCGAGGATGCGCCGCTGCGCGCCCGGCCCGCCGCG c.240
R L R E E A R L R E D A P L R A R P A A p.80
. . . . . . g.10458
GCCTCTCCGCGGGCGGAGCCCTGGCTCTCCCAGCCGGCCTCGGGCTCGGCCTACGCGACC c.300
A S P R A E P W L S Q P A S G S A Y A T p.100
. . . . . . g.10518
CCTGGGGCCTACGGTGATATCCGGCCCTCCGCGGCTTCCTGGGTAGGGAGCCGCGGCCTC c.360
P G A Y G D I R P S A A S W V G S R G L p.120
. . . . . . g.10578
GCCTATCCTGCCCGCCCGGCGCAACTCAGGCGCCGCGCCTCGGTCCGGGGCAGCTCCGAG c.420
A Y P A R P A Q L R R R A S V R G S S E p.140
. . . . . . g.10638
GAGGACGAGGACGCCCGGACGCCCGACAGGGCCACGCAGGGCCCGGGTCTCGCGGCCCGC c.480
E D E D A R T P D R A T Q G P G L A A R p.160
. . . . . . g.10698
CGCTGGTGGGCAGCGTCTCCCGCCCCGGCGCGGCTGCCTTCCTCCCTCCTCGGTCCCGAC c.540
R W W A A S P A P A R L P S S L L G P D p.180
. . . . . . g.10758
CCGCGCCCGGGCCTGCGGGCGACTCGAGCGGGCCCTGCTGGCGCGGCGAGGGCCCGGCCT c.600
P R P G L R A T R A G P A G A A R A R P p.200
. . . . . . g.10818
GAGGTGGGGCGCCGGCTGGAGCGCTGGCTCTCTCGGCTTCTGCTCTGGGCCAGCCTAGGG c.660
E V G R R L E R W L S R L L L W A S L G p.220
. . . . . . g.10878
CTACTGCTCGTCTTCCTGGGCATCCTTTGGGTGAAGATGGGCAAGCCCTCAGCGCCGCAG c.720
L L L V F L G I L W V K M G K P S A P Q p.240
. | 02 . . . . | 03. g.14850
GAGGCGGAGGACAACA | TGAAGTTATTGCCAGTGGACTGTGAGAGAAAAACAGATGAG | TTC c.780
E A E D N M | K L L P V D C E R K T D E | F p.260
. . . . . . g.14910
TGTCAGGCCAAGCAGAAGGCAGCCTTGCTGGAGCTGCTGCATGAACTCTACAATTTCCTG c.840
C Q A K Q K A A L L E L L H E L Y N F L p.280
. | 04 . . . . . g.18168
GCCATCCAAGCTG | GTAATTTTGAGTGTGGAAATCCAGAGAATCTAAAAAGCAAATGCATT c.900
A I Q A G | N F E C G N P E N L K S K C I p.300
. . . | 05 . . . g.19125
CCTGTTATGGAAGCCCAAGAATATATAGCC | AATGTGACCAGCAGCTCCTCCGCCAAGTTT c.960
P V M E A Q E Y I A | N V T S S S S A K F p.320
. . . . . | 06 . g.20897
GAAGCCGCACTGACCTGGATACTGAGCAGTAACAAGGACGTGGGCATCTG | GTTGAAAGGA c.1020
E A A L T W I L S S N K D V G I W | L K G p.340
. . . . . . g.20957
GAAGACCAGTCTGAATTGGTGACGACTGTGGACAAGGTGGTCTGCCTGGAATCTGCCCAC c.1080
E D Q S E L V T T V D K V V C L E S A H p.360
. . . . . . g.21017
CCCCGCATGGGTGTTGGCTGCCGCCTGAGCCGGGCCTTGCTCACTGCTGTCACCAACGTG c.1140
P R M G V G C R L S R A L L T A V T N V p.380
. | 07 . . . . . g.22079
CTCATCTTCTTCTGGT | GCTTGGCTTTTTTGTGGGGGCTCCTAATTCTCCTAAAATATCGG c.1200
L I F F W C | L A F L W G L L I L L K Y R p.400
. . . . . | 08 g.22220
TGGCGAAAGTTAGAAGAGGAGGAACAAGCCATGTATGAGATGGTGAAGAAGATTATAG | AC c.1260
W R K L E E E E Q A M Y E M V K K I I D | p.420
. . . . . . g.22280
GTGGTCCAGGACCATTACGTGGACTGGGAGCAGGACATGGAGCGCTATCCATATGTAGGC c.1320
V V Q D H Y V D W E Q D M E R Y P Y V G p.440
. . . . | 09 . . g.26515
ATCCTGCACGTGCGCGACAGCTTGATCCCTCCACAGAGCCG | GAGGCGCATGAAGCGTGTC c.1380
I L H V R D S L I P P Q S R | R R M K R V p.460
. . . . . . g.26575
TGGGACCGAGCTGTGGAGTTCCTGGCCTCCAACGAATCCCGGATCCAGACGGAGTCCCAC c.1440
W D R A V E F L A S N E S R I Q T E S H p.480
. . . . . . g.26635
CGCGTTGCAGGAGAGGACATGCTGGTGTGGAGATGGACTAAGCCCTCTTCCTTCTCTGAC c.1500
R V A G E D M L V W R W T K P S S F S D p.500
. g.26647
TCAGAGCGATAA c.1512
S E R X p.503
. . . . . . g.26707
gccccgggcggggacttgttcccggtcagcctgtcccaggacagcccactccagaggcac c.*60
. . . . . . g.26767
aggagggtcaccaggcctgcggtgctgaattcacacttgccttgactttcagtctcgtcc c.*120
. . . . . . g.26827
tgacacgattccaaaggtctgccatactcttcagaggagttcggctcgcaggaaaatgtg c.*180
. . . . . . g.26887
ggcttcctttaaagggagggggagaagccagggtgatagcccagactctgccctgttgtg c.*240
. . . . . . g.26947
ctggcagaaacggggagaagggttgagttttcatgaatagaaaacaagagcagcagctgt c.*300
. . . . . . g.27007
caggcccagctgacaagcgtggggctggtgggctggggcatggccacgccagggagtctg c.*360
. . . . . . g.27067
tcacctgggaggtggggcagggatggtgtttcgggtggcgggatggggagcagcttggtc c.*420
. . . . . . g.27127
catgtgccttcagggggttgttacttgagagctccagggtgaagggagaaagcctgtgct c.*480
. . . . . . g.27187
ctggctggctgggcctctatcctgaagagggaaggtgctagaaattagaacaagtgactg c.*540
. . . . . . g.27247
taggggggaccgtctagaaacaccaggcccagacacacggtccctcaggtcaggaggagt c.*600
. . . . . . g.27307
gagcagccggcacagcctcctgggaggatcccgaagtagggactggggctgagagcagag c.*660
. . . . . . g.27367
aggagggtcgggcagccccagggcgggcgggcccgcctcagtgttgcttctcacagaagc c.*720
. . . . . . g.27427
tgcgactctagaccaggcctgcagccagaacgccgattccgggagcttgggagccctgcg c.*780
. . . . . . g.27487
tcagggcccagagcctcgcacttgctgtgtgcgaagatcgccttgctttactgtgaccac c.*840
. . . . . . g.27547
agccccgacgcggggctgtttaacaagaacttcagcgcagccggcgtttctgttaccccg c.*900
. . . . . . g.27607
gccgcggctcttggcggcgggagaggcgcagtggctgcaggctgccccctgccggccaca c.*960
. . . . . . g.27667
agggagcagcgtccgcgccgccgcccaccggccctcccgccagctcctcagcctgctccc c.*1020
. . . . . . g.27727
tgggaggcaggctccagaagcaccccgacggggggccttattaagtgcgagaagcctctc c.*1080
. . . . . . g.27787
cagcgagtcttccccgtgtgtcctcatctgcggcaggcaggagagggggagcaaacagga c.*1140
. . . . . . g.27847
aattccacagctgcctccagaaacattaaccacccctctctagtcttactggtatttttt c.*1200
. . . . . . g.27907
gtttccttaataaagctccagtctccctcatttgagcaatactctcatttcctctgatgt c.*1260
. . . . . . g.27967
ctggatgatcggcagggcaggaatctgagcgctggccccgtggtgaggccatgttctcat c.*1320
. . . . . . g.28027
aatcaggctccagccagaaaaataagaaacaccgcaacaggcttcagtatcagggctgaa c.*1380
. . . g.28062
actgctggatgaataaactatttattaaaaacgga c.*1415
(downstream sequence)
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