(used for variant description)
(last modified December 27, 2021)
This file was created to facilitate the description of sequence variants on transcript NM_001011658.3 in the TRAPPC2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000023.10, covering TRAPPC2 transcript NM_001011658.3.
(upstream sequence)
. . . g.5032
acatcccagggtatcgcgagaactgcttcggc c.-241
. . . . . . g.5092
gttctggctacaggttcggggcgcgggtctcttccgcggaaactgacattgcgtttccgt c.-181
. . | 02 . . . g.5491
tgtcggcctcccactgcag | tatcaccttctcccccaagtgtgacaaccaaagatgtctcc c.-121
. . . . . . g.5551
agatattgccagatgtcctcttggaagcaagatcgctccgggttgagatccacagagcta c.-61
. . . . . | 03 . g.19672
aacgttttagagtaccaaccattgtgtgctgtgaggtaaag | gagccatatattgaagacc c.-1
. . . . . . g.19732
ATGTCTGGGAGCTTCTACTTTGTAATTGTTGGCCACCATGATAATCCAGTTTTTGAAATG c.60
M S G S F Y F V I V G H H D N P V F E M p.20
. . . | 04 . . . g.22984
GAGTTTTTGCCAGCTGGGAAGGCAGAATCCAAA | GACGACCATCGTCATCTGAACCAGTTC c.120
E F L P A G K A E S K | D D H R H L N Q F p.40
. . . . . . g.23044
ATAGCTCATGCTGCTCTCGACCTCGTAGATGAGAACATGTGGCTATCGAACAACATGTAC c.180
I A H A A L D L V D E N M W L S N N M Y p.60
. . . . . | 05 g.23548
TTGAAAACTGTGGACAAGTTCAACGAGTGGTTTGTGTCGGCATTTGTCACTGCGGGGC | AT c.240
L K T V D K F N E W F V S A F V T A G H | p.80
. . . . . . g.23608
ATGAGGTTTATTATGCTTCATGACATAAGACAAGAAGATGGAATAAAGAACTTCTTTACT c.300
M R F I M L H D I R Q E D G I K N F F T p.100
. . | 06 . . . . g.25166
GATGTTTATGATTTATATATAAAG | TTTTCAATGAATCCATTTTATGAACCCAATTCTCCT c.360
D V Y D L Y I K | F S M N P F Y E P N S P p.120
. . . . . . g.25226
ATTCGATCAAGTGCATTTGACAGAAAAGTTCAGTTTCTTGGGAAGAAACACCTTTTAAGC c.420
I R S S A F D R K V Q F L G K K H L L S p.140
g.25229
TGA c.423
X p.140
. . . . . . g.25289
atgcagaaaattccaaaataaatgatgtcaccacaatggtgtatactcaggaatgtgtac c.*60
. . . . . . g.25349
attgtaagttacttgattaaatagcctggaaaacttttgtgtattctcagcttatctaaa c.*120
. . . . . . g.25409
cctaatgaaattccttttatatttaaaaatagtacattctgtctcatgtcacgtatcaat c.*180
. . . . . . g.25469
agatcaattggtatttccttgtgaacagtgttatttataaagagttcattatcaataatc c.*240
. . . . . . g.25529
atgttttttttttttttttttttctgatacagagtctcactctgttgccaggctggagtg c.*300
. . . . . . g.25589
cagtggcgcaatcttggctcactgcaacctccgcctcccaggttcaggcgattctcctgc c.*360
. . . . . . g.25649
ctcagcctccaagtagctgggactacaggcgcgtgccaccacgcccggctaatttttgta c.*420
. . . . . . g.25709
tttttagtagagacagggtttcaccatattggtcaggctggtcttgaactcctgacctcg c.*480
. . . . . . g.25769
tgatctgcccgccttggcctcccaaagtactgggattacaggcgtgagccaccgtgccca c.*540
. . . . . . g.25829
accatgaaatatttttacttaaaaattgggaataagctcgctttttttttttttgagatg c.*600
. . . . . . g.25889
gagtcttgctcctgttgtgcaggctgtagtgcagtggcacgatcttggctcactgcaacc c.*660
. . . . . . g.25949
tccacctcccgggttcaagcaattctccttcttcagcctcccgagtagctgagattatag c.*720
. . . . . . g.26009
gcgtgcaccaccacacctggctaatttttgtatttttagtagagacagggtttcaccata c.*780
. . . . . . g.26069
ttggtcaggctggtcttgaactcctgacctcgtgatccacccacctcaggaagtgctggg c.*840
. . . . . . g.26129
attacaggcgtgtgagccaccacgcccggccatgaaatatttttacttaaaaattgggaa c.*900
. . . . . . g.26189
taagctttttggttttttgtgggtttttgtttttgttttttgttttttgtttttttgaga c.*960
. . . . . . g.26249
tggagtcttgctcctgttgtgcaggctggagtgcagtggcacagtcttggctcactgcaa c.*1020
. . . . . . g.26309
cctccacctcctgggttcaagcaattctccttcttcagcctcccgagtagctgggattac c.*1080
. . . . . . g.26369
aggcatgcaccaccacacctggctaatttttgtgtttttagtagagacggggtttcgcta c.*1140
. . . . . . g.26429
ttttggccgggctggtttcaaactcctgacctcagttgatccacccgcctcagcctccca c.*1200
. . . . . . g.26489
aagtgctaggattacaggcatgaaccaccgtgcccggccaggaataagcttttgacttac c.*1260
. . . . . . g.26549
ccaattcagataggttgatctttggggttttttttttttttttgagatggagtttcgctc c.*1320
. . . . . . g.26609
tgttgtccaggctggagtgcaatggcagttgtttcaccgtaacctctgcctcctgacttc c.*1380
. . . . . . g.26669
aagcaattctcctgcctcagcctcccaaagtgctgggattacaggtgtgagccaccgtgc c.*1440
. . . . . . g.26729
ccggcccagataggttgatcttaatgtaacaacccaaaaataaatgtcatagtcaagatt c.*1500
. . . . . . g.26789
tggtagataaatttaaaattaaaatattctgcagttgggagtgaaatgtgatagcacata c.*1560
. . . . . . g.26849
cgttgacattatgcatttagagatgttataaaaatgtataggcagtatacacagcactac c.*1620
. . . . . . g.26909
tcaagaagccaaagaaacacttgtgcagtgctaagtgtcacatgtctgcttccaccagag c.*1680
. . . . . . g.26969
gctaggaatagtgatcctgctataatgtgagaacccaaatcatgtttataaaataggacg c.*1740
. . . . . . g.27029
ctgggagcagttgcaggccacagtgaagtgtgttgcttctgtcactttatattcttatat c.*1800
. . . . . . g.27089
ttcctttccctcagacagtaaactgttgatactcgtacttgtaaaaaattgtaaggcaat c.*1860
. . . . . . g.27149
ttttagtattgttgtcaaagaaaagcttggattacattaacatttgtattcagtctttta c.*1920
. . . . . . g.27209
ggtgatacaccagagggggctgggaattgtctctttgttcctataagtagatcttaatgt c.*1980
. . . . . . g.27269
aaaatagtaaatgtccattgaaaagcaagtaatacagcctgtgctaattgggagcacttg c.*2040
. . . . . . g.27329
aacaattttgttccattctgagtaacttttgagcaagtaattctaagctttgtcttgtat c.*2100
. . . . . . g.27389
ccttgtgtgaaattgcataatttttaccctatttgatttcttaaataaagatgtttgctc c.*2160
g.27394
aagat c.*2165
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 27
©2004-2021 Leiden University Medical Center