(used for variant description)
(last modified March 23, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_004230.3 in the S1PR2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_046802.1, covering S1PR2 transcript NM_004230.3.
(upstream sequence)
. . . . . g.5586
cggccgccctggggacgcagacgccaaggcccctccggccagggccgggag c.-61
. . | 02. . . . g.11902
ccgggccggcctagccag | ttctgaaagccccatggccccagcaggcctctgagccccacc c.-1
. . . . . . g.11962
ATGGGCAGCTTGTACTCGGAGTACCTGAACCCCAACAAGGTCCAGGAACACTATAATTAT c.60
M G S L Y S E Y L N P N K V Q E H Y N Y p.20
. . . . . . g.12022
ACCAAGGAGACGCTGGAAACGCAGGAGACGACCTCCCGCCAGGTGGCCTCGGCCTTCATC c.120
T K E T L E T Q E T T S R Q V A S A F I p.40
. . . . . . g.12082
GTCATCCTCTGTTGCGCCATTGTGGTGGAAAACCTTCTGGTGCTCATTGCGGTGGCCCGA c.180
V I L C C A I V V E N L L V L I A V A R p.60
. . . . . . g.12142
AACAGCAAGTTCCACTCGGCAATGTACCTGTTTCTGGGCAACCTGGCCGCCTCCGATCTA c.240
N S K F H S A M Y L F L G N L A A S D L p.80
. . . . . . g.12202
CTGGCAGGCGTGGCCTTCGTAGCCAATACCTTGCTCTCTGGCTCTGTCACGCTGAGGCTG c.300
L A G V A F V A N T L L S G S V T L R L p.100
. . . . . . g.12262
ACGCCTGTGCAGTGGTTTGCCCGGGAGGGCTCTGCCTTCATCACGCTCTCGGCCTCTGTC c.360
T P V Q W F A R E G S A F I T L S A S V p.120
. . . . . . g.12322
TTCAGCCTCCTGGCCATCGCCATTGAGCGCCACGTGGCCATTGCCAAGGTCAAGCTGTAT c.420
F S L L A I A I E R H V A I A K V K L Y p.140
. . . . . . g.12382
GGCAGCGACAAGAGCTGCCGCATGCTTCTGCTCATCGGGGCCTCGTGGCTCATCTCGCTG c.480
G S D K S C R M L L L I G A S W L I S L p.160
. . . . . . g.12442
GTCCTCGGTGGCCTGCCCATCCTTGGCTGGAACTGCCTGGGCCACCTCGAGGCCTGCTCC c.540
V L G G L P I L G W N C L G H L E A C S p.180
. . . . . . g.12502
ACTGTCCTGCCTCTCTACGCCAAGCATTATGTGCTGTGCGTGGTGACCATCTTCTCCATC c.600
T V L P L Y A K H Y V L C V V T I F S I p.200
. . . . . . g.12562
ATCCTGTTGGCCATCGTGGCCCTGTACGTGCGCATCTACTGCGTGGTCCGCTCAAGCCAC c.660
I L L A I V A L Y V R I Y C V V R S S H p.220
. . . . . . g.12622
GCTGACATGGCCGCCCCGCAGACGCTAGCCCTGCTCAAGACGGTCACCATCGTGCTAGGC c.720
A D M A A P Q T L A L L K T V T I V L G p.240
. . . . . . g.12682
GTCTTTATCGTCTGCTGGCTGCCCGCCTTCAGCATCCTCCTTCTGGACTATGCCTGTCCC c.780
V F I V C W L P A F S I L L L D Y A C P p.260
. . . . . . g.12742
GTCCACTCCTGCCCGATCCTCTACAAAGCCCACTACTTTTTCGCCGTCTCCACCCTGAAT c.840
V H S C P I L Y K A H Y F F A V S T L N p.280
. . . . . . g.12802
TCCCTGCTCAACCCCGTCATCTACACGTGGCGCAGCCGGGACCTGCGGCGGGAGGTGCTT c.900
S L L N P V I Y T W R S R D L R R E V L p.300
. . . . . . g.12862
CGGCCGCTGCAGTGCTGGAGGCCGGGGGTGGGGGTGCAAGGACGGAGGCGGGGCGGGACC c.960
R P L Q C W R P G V G V Q G R R R G G T p.320
. . . . . . g.12922
CCGGGCCACCACCTCCTGCCACTCCGCAGCTCCAGCTCCCTGGAGAGGGGCATGCACATG c.1020
P G H H L L P L R S S S S L E R G M H M p.340
. . . . g.12964
CCCACGTCACCCACGTTTCTGGAGGGCAACACGGTGGTCTGA c.1062
P T S P T F L E G N T V V X p.353
. . . . . . g.13024
gggtgggggtggaccaacaaccaggccagggcagaggggttcatggagaggccactgggt c.*60
. . . . . . g.13084
gaccccagatagagacttggggctactgagccagatgcccccgccccacagacctgggtg c.*120
. . . . . . g.13144
atgttgcaaatatttcacacctggaaaggccagataaggcactgactagtcacatagcag c.*180
. . . . . . g.13204
tgttgcagtgcggtcctgagggccagtccagtggctagtgtgacccctttagaactggat c.*240
. . . . . . g.13264
cctggggaggccagggcaggggacctgtgaagagccagggtgagggcaggcagcatttaa c.*300
. . . . . . g.13324
ggggagctcagggcaggagcactttaccacctggtacaaaggatttttttttttttttga c.*360
. . . . . . g.13384
gacggaatcttgcactgctgcccaggctggagtgcagtggcgtgatctcggctcaccgca c.*420
. . . . . . g.13444
agctccgcctcctgggttcatgtcgttctcctgcctcagcctcccaagtagctgggacta c.*480
. . . . . . g.13504
taggcgcctgccaccacacctggctaattttttgtacctttagtagagatggggtttcac c.*540
. . . . . . g.13564
cgtgttagccaggatggtcttgatctcctgacctcgtgatccgcccgcctcggcctccca c.*600
. . . . . . g.13624
aagtgctgggattacaggcgtgagccaccgtgcccggctttttttttttttttttttttt c.*660
. . . . . . g.13684
tttttttttttttttgagatgaagtctcgctctgttgcccaggctggagagtgcagtggt c.*720
. . . . . . g.13744
acggtctcagctcactgcaacctccacctcccaggttcaagcgattctccagcctgagcc c.*780
. . . . . . g.13804
tcctgagtagctgggattacaggtgcctaccaccacgcccaggtaatttttttttttttt c.*840
. . . . . . g.13864
gtatttttagtagagacggggtttcaccatgttggccaggctggtctcgaactcctgacc c.*900
. . . . . . g.13924
tcatgatccgcccgtgttggcctcccaaagtgtgggattacaggcgtaagccacctcacc c.*960
. . . . . . g.13984
tggcggtacaaagaatttctgcattttcttccctggcccctagtcctgcaccgatttctc c.*1020
. . . . . . g.14044
cttttcgaatgtattcctcctgccaccttctctgggcaacttcgtgcgactacagaacca c.*1080
. . . . . . g.14104
ctgtcctgaggagctagaggcctcctctctgaccatccagagcccaaatccacagcttcc c.*1140
. . . . . . g.14164
ccaaatttcatcagctgccacttgacgacttctccccgtctctctgaggcccggaaacca c.*1200
. . . . . . g.14224
cggctggaggtggggaggggatggcggctgaggtccattcctcattctcagacctcattg c.*1260
. . . . . . g.14284
ctcagttgcactatttggggcacagaataatcaccaaaagtgagaaaaacgagtttgggt c.*1320
. . . . . . g.14344
ggctggggaggactttgggactcttgatgcaaggcgcaacttgagaaaattctgggtgtg c.*1380
. . . . . . g.14404
atatttgcacagacaccctcctttcaaaaacagccaccccccaagctattctcagctcca c.*1440
. . . . . . g.14464
cacctgcagccccagctaaggtaccaggtctcctgagcaaggcagagagaagccttgagc c.*1500
. . . . . . g.14524
cttctctgtgtcttctttcaagaaccccgctgtgtcttctttcaagattttttttttgag c.*1560
. . . . . . g.14584
acagtttcaagatttttgttttgtttttgagatggagtctcactgtgtcacccaggctga c.*1620
. . . . . . g.14644
ggtggcagtggttcaatctccgttcactgccacctccacctcccgggttcaagcgattct c.*1680
. . . . . . g.14704
cctgcttcagcctctcgagtagctgggactacaggcacctgccaccatgtctggctaatt c.*1740
. . . . . . g.14764
tttgtatttttagtagagacagggtttcactacgttggccaggctggtctcaaactcctg c.*1800
. . . . . . g.14824
acctcaagtgatccgcccgcctcggcctccccaattgctgggattacaggcgtgagccac c.*1860
. . . . . . g.14884
tgtgcccggccttcttctttcaagttatatagaatggagcatgggggtggcagtggctag c.*1920
. . . . . . g.14944
ggacatttcctggggacactctcccctaaccccccagaaggacttcacaaaaacctgtgg c.*1980
. . . . . . g.15004
ataatggaagggatgttacggtacaaacgtatatttatgtgtgtgtgtgtgtatgtgtgt c.*2040
. . . . . . g.15064
gcgcgcgcgcgtgtgcacataggcgtgatgtctgtgaccctcctctcctcgtcacatttc c.*2100
. . . . . . g.15124
ccccagaatgaatgctgtcctgtctgctcatgtttgtgttgaagctgccaaagtcgggga c.*2160
. . . . . . g.15184
gctctggtcctgcccagacccctttggaattgctggcccatcctcccactggagagctgg c.*2220
. . . . . . g.15244
ggtgcagctcaccttggggaaggaaacctcatgcctcagagtaatttcttgtgaatgcaa c.*2280
. . . . . . g.15304
agcctgggggagcgggtctttggggggcaaggagccagtcaggggcttgtttcccctcat c.*2340
. . . . . . g.15364
agagctccccagacgtgcctccgcaatgcctgaaacccagacctaggctaataaacggtt c.*2400
. g.15375
caatttctgtt c.*2411
(downstream sequence)
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