(used for variant description)
(last modified May 5, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_001136037.2 in the LIMS2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_042235.1, covering LIMS2 transcript NM_001136037.2.
(upstream sequence)
. . . . g.11642
gccacccccgcccacccctctcgcgggcggagcggctcttggcctt c.-121
. . . . . . g.11702
ttttgggcgtctccctgctccgcggcccgggctggcgggcgggcgctcggctggcggctg c.-61
. . . . . . g.11762
cagcagcagagggagacccgcggcaaccccggcaacccagggctcggcgtcgctgccacc c.-1
. | 02 . . . . . g.13092
ATGACGGGAAG | GAAAAGAAAGTGGGGAGAGACAGGAACAGGGTCCGGAGCAGCCCCAGCA c.60
M T G R | K R K W G E T G T G S G A A P A p.20
. | 03. . . . . g.29267
GCAGCATTGAGGTGGAG | CAATATGTCGGACGCCTTGGCCAACGCCGTGTGCCAGCGCTGC c.120
A A L R W S | N M S D A L A N A V C Q R C p.40
. . . . . . g.29327
CAGGCCCGCTTCTCCCCCGCCGAGCGCATTGTCAACAGCAATGGGGAGCTGTACCATGAG c.180
Q A R F S P A E R I V N S N G E L Y H E p.60
. . . . . | 04. g.31893
CACTGCTTCGTGTGTGCCCAGTGCTTCCGGCCCTTCCCCGAGGGGCTCTTCTATGAG | TTT c.240
H C F V C A Q C F R P F P E G L F Y E | F p.80
. . . . . . g.31953
GAAGGCCGGAAGTACTGCGAACACGACTTCCAAATGCTGTTTGCTCCGTGCTGTGGATCC c.300
E G R K Y C E H D F Q M L F A P C C G S p.100
| 05 . . . . . . g.32298
TGCG | GTGAGTTCATCATTGGCCGCGTCATCAAGGCCATGAACAACAACTGGCACCCGGGC c.360
C G | E F I I G R V I K A M N N N W H P G p.120
. . . . . . g.32358
TGCTTCCGCTGCGAGCTGTGTGATGTGGAGCTGGCTGACCTGGGCTTTGTGAAGAATGCC c.420
C F R C E L C D V E L A D L G F V K N A p.140
| 06 . . . . . . g.43768
GGCAG | GCATCTCTGCCGGCCTTGCCACAACCGTGAGAAGGCCAAGGGCCTGGGCAAGTAC c.480
G R | H L C R P C H N R E K A K G L G K Y p.160
. . . . . . g.43828
ATCTGCCAGCGGTGCCACCTGGTCATCGACGAGCAGCCCCTCATGTTCAGGAGCGACGCC c.540
I C Q R C H L V I D E Q P L M F R S D A p.180
. . . | 07 . . . g.44611
TACCACCCTGACCACTTCAACTGCACCCACTGTGG | GAAGGAGCTGACAGCCGAGGCCCGC c.600
Y H P D H F N C T H C G | K E L T A E A R p.200
. . . . . . g.44671
GAGCTGAAGGGTGAGCTCTACTGCCTGCCCTGCCATGACAAGATGGGCGTCCCCATCTGC c.660
E L K G E L Y C L P C H D K M G V P I C p.220
. . . . . . g.44731
GGGGCCTGCCGCCGGCCCATCGAGGGCCGAGTGGTCAACGCGCTGGGCAAGCAGTGGCAC c.720
G A C R R P I E G R V V N A L G K Q W H p.240
| 08 . . . . . . g.45851
GTGGAG | CACTTTGTCTGTGCCAAGTGTGAGAAGCCATTCCTGGGGCACCGGCACTATGAG c.780
V E | H F V C A K C E K P F L G H R H Y E p.260
. . . | 09 . . g.46488
AAGAAGGGCCTGGCCTACTGCGAGACTCACTACAACCAG | CTCTTCGGGGACGTCTGCTAC c.840
K K G L A Y C E T H Y N Q | L F G D V C Y p.280
. . | 10 . . . g.46672
AACTGCAGCCATGTGATTGAAGGCGATG | TGGTGTCGGCCCTCAACAAGGCCTGGTGTGTG c.900
N C S H V I E G D V | V S A L N K A W C V p.300
. . . . | 11 . . g.47373
AGCTGCTTCTCCTGCTCCACCTGCAACAGCAAGCTCACCCTGAA | GAACAAGTTTGTGGAG c.960
S C F S C S T C N S K L T L K | N K F V E p.320
. . . . . . g.47433
TTCGACATGAAGCCCGTGTGTAAGAGGTGCTACGAGAAGTTCCCGCTGGAGCTGAAGAAG c.1020
F D M K P V C K R C Y E K F P L E L K K p.340
. . . . . . g.47493
CGGCTGAAGAAGCTGTCGGAGCTGACCTCCCGCAAGGCCCAGCCCAAGGCCACAGACCTC c.1080
R L K K L S E L T S R K A Q P K A T D L p.360
. g.47505
AACTCTGCCTGA c.1092
N S A X p.363
. . . . . . g.47565
aggccctcttgcgcagctgcctctcggcccctccgccttctcccctcctgctgtccatgc c.*60
. . . . . . g.47625
ttggccccctcgtccccatccacctgtgccctccgcatcttaccctccctttctctttcc c.*120
. . . . . . g.47685
tcattgccttctcccttcctgttccctcatctctgccttccccatgtctctcctctcctt c.*180
. . . . . . g.47745
ggccgtggcttctgtctgtgaggaggcaggagctggggagtgggagcctatgaccccacg c.*240
. . . . . . g.47805
tctgacagccatgtccacctgtgcccacagcttccgcccacagacctccagggacaggag c.*300
. . . . . . g.47865
caaattgcaccacagctccccgcctggcctggccctccccaggcggctcagtggctcatg c.*360
. . . . . . g.47925
ctgtcctgtgagagcccctgccccagagcggccccactaagcgcatgtggctcctgggct c.*420
. . . . . . g.47985
acccacagccagggcagcctgctggagccacagggccagggccatgcagatggaggcctc c.*480
. . . . . . g.48045
tgggagccacctccaatccctcaccactcactcaaccagtggcacagtgtccttgtgccc c.*540
. . . . . . g.48105
acactgagccagcaagtcctgctgtccacacccacaagctacctggagggacaggaccca c.*600
. . . . . . g.48165
cctccatccttcggaaggccttcctggaatcccaccttggcctccgccctcggttccgcc c.*660
. . . . . . g.48225
ccgcccctctccccccgaccttggggcttgtgtcgagcccttgggtggggccaggaggag c.*720
. . . . . . g.48285
gtgatggcgtcagaggaggtgtggtcagaggtgacttgttcccacctccagggaggacgc c.*780
. . . . . . g.48345
ttcgtcttcggccagcgcagacctggtgtttgtttgttgggctcacgcttgcacaatgaa c.*840
. . g.48365
ggcttgttcacacaaccaca c.*860
(downstream sequence)
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