(used for variant description)
(last modified November 25, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_000929.2 in the PLA2G5 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_032045.1, covering PLA2G5 transcript NM_000929.2.
(upstream sequence)
. . g.5028
cagggttctacccggctgggtccaggca c.-241
. . . . . . g.5088
gaagtttttcctccccacctccgggtttgtcctcatcatcggtcactcccattcacagct c.-181
. . . . . . g.5148
ttaagattctggaggccaagaatttgactccccccggatccatggtctgtggataccaat c.-121
. . . . . . g.5208
gttccgactggagacggggagcccgcgagacccgggtctccagggtctgcccaaggaagt c.-61
. . . . . | 02 g.19623
tgctcatgggagcagacctctagagcaggatttgaggccaggccaaagag | aaccccagag c.-1
. . . . | 03 . . g.20895
ATGAAAGGCCTCCTCCCACTGGCTTGGTTCCTGGCTTGTA | GTGTGCCTGCTGTGCAAGGA c.60
M K G L L P L A W F L A C S | V P A V Q G p.20
. . . . . . g.20955
GGCTTGCTGGACCTAAAATCAATGATCGAGAAGGTGACAGGGAAGAACGCCCTGACAAAC c.120
G L L D L K S M I E K V T G K N A L T N p.40
. . . . . . g.21015
TACGGCTTCTACGGCTGTTACTGCGGCTGGGGCGGCCGAGGAACCCCCAAGGATGGCACC c.180
Y G F Y G C Y C G W G G R G T P K D G T p.60
| 04 . . . . . . g.24636
GATTG | GTGCTGTTGGGCGCATGACCACTGCTATGGGCGGCTGGAGGAGAAGGGCTGCAAC c.240
D W | C C W A H D H C Y G R L E E K G C N p.80
. . . . . | 05 . g.25368
ATTCGCACACAGTCCTACAAATACAGATTCGCGTGGGGCGTGGTCACCTGCG | AGCCCGGG c.300
I R T Q S Y K Y R F A W G V V T C E | P G p.100
. . . . . . g.25428
CCCTTCTGCCATGTGAACCTCTGTGCCTGTGACCGGAAGCTCGTCTACTGCCTCAAGAGA c.360
P F C H V N L C A C D R K L V Y C L K R p.120
. . . . . g.25485
AACCTACGGAGCTACAACCCACAGTACCAATACTTTCCCAACATCCTCTGCTCCTAG c.417
N L R S Y N P Q Y Q Y F P N I L C S X p.138
. . . . . . g.25545
gcctccccagcgagctcctcccagaccaagacttttgttctgtttttctacaacacagag c.*60
. . . . . . g.25605
tactgactctgcctggttcctgagagaggctcctaagtcacagacctcagtctttctcga c.*120
. . . . . . g.25665
agcttggcggacccccagggccacactgtaccctccagcgagtcccaggagagtgactct c.*180
. . . . . . g.25725
ggtcataggacttggtagggtcccagggtccctaggcctccacttctgagggcagcccct c.*240
. . . . . . g.25785
ctggtgccaagagctctcctccaactcagggttggctgtgtctcttttcttctctgaaga c.*300
. . . . . . g.25845
cagcgtcctggctccagttggaacactttcctgagatgcacttacttctcagcttctgcg c.*360
. . . . . . g.25905
atcagattatcatcaccaccaccctccagagaatttttacgcaagaagagccaaattgac c.*420
. . . . . . g.25965
tctctaaatctggtgtatgggtattaaataaaattcattctcaaggctaataaaaaccac c.*480
. . . . . . g.26025
attggcattttcctctgctgtgggggatcgctggtgcctctttctctgccactggggcaa c.*540
. . . . . . g.26085
taaacccaaagatgtctacattatctccgaaacagaagggaagattagtaaatgcagggt c.*600
. . . . . . g.26145
tttctgggatgagcttcaggctttctcttgggctaattttcttacaccttggggtcctct c.*660
. . . . . . g.26205
ccagtattgggtctcattcttcctcgatggggtcagggaaagataactggtgattatgcc c.*720
. . . . . . g.26265
agcttcagcttccaggccagagagggtggcattcaaatcccagtgctggcttcttcagct c.*780
. . . . . . g.26325
gtgtggtcttggacccgttactgaacctctttgactttcagtctctttgagaaataaact c.*840
. . . . . . g.26385
gtcttgttccttgcaatgtaaaatgagacttctaaagcccaccttgatgctgatatggag c.*900
. . . . . . g.26445
aatgctgaggttctaggatttcacacagcaggaatttttttttaataggtgtcagctgtg c.*960
. . . . . . g.26505
gggtttattttttacaaagtaaggacattaaaaaaaccaacccgtctatcaattcataaa c.*1020
. . . . . . g.26565
agaaaggatgttctgataccaagactgaaagaagaaaggatgtattccaaaacaaaggaa c.*1080
. . . . . . g.26625
catccttccaagaaaggacctatggcttctttattccgacataccccaaaataactgcat c.*1140
. . . . . . g.26685
gataaataggtctatatttaaaaagctctagtgtcgaatgttttcaaaataaaatttaat c.*1200
g.26694
tttatgaga c.*1209
(downstream sequence)
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