(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)Legend:
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