(used for variant description)
(last modified November 20, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_032575.2 in the GLIS2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_016391.2, covering GLIS2 transcript NM_032575.2.
(upstream sequence)
. . . . . g.22520
tgaagaccagctgggagcccactgcctgctgccacctccaactccggccccctcacc c.-1
. . . . . . g.22580
ATGCACTCCCTGGACGAGCCGCTCGACCTGAAGCTGAGTATCACCAAGCTCCGGGCGGCA c.60
M H S L D E P L D L K L S I T K L R A A p.20
. . . . . . g.22640
AGAGAGAAGCGGGAGAGGACGCTGGGTGTGGTCCGGCCCCGTGCTCTGCACAGGGAGCTG c.120
R E K R E R T L G V V R P R A L H R E L p.40
. . . . . | 02 . g.23594
GGCCTGGTGGATGACAGCCCCACACCTGGCTCTCCAGGCTCCCCGCCCTCAG | GCTTCCTG c.180
G L V D D S P T P G S P G S P P S G | F L p.60
. . . . . . g.23654
CTGAACTCCAAGTTCCCCGAGAAGGTGGAGGGACGCTTTTCAGCAGCCCCTCTCGTGGAC c.240
L N S K F P E K V E G R F S A A P L V D p.80
. . . . . . g.23714
CTCAGCCTGTCACCACCATCTGGGCTGGACTCCCCCAATGGCAGCAGCTCGCTGTCCCCC c.300
L S L S P P S G L D S P N G S S S L S P p.100
. . . . | 03 . . g.25055
GAGCGCCAGGGCAACGGGGACCTGCCTCCAGTGCCCAGTGCCTCG | GACTTCCAGCCACTG c.360
E R Q G N G D L P P V P S A S | D F Q P L p.120
. . . . . . g.25115
CGCTATTTGGATGGTGTCCCCAGCTCCTTCCAGTTCTTCCTGCCCCTCGGCTCCGGGGGG c.420
R Y L D G V P S S F Q F F L P L G S G G p.140
. . . . . . g.25175
GCCCTGCACCTGCCTGCCTCCTCCTTCCTTACCCCTCCCAAGGACAAGTGCCTCTCGCCA c.480
A L H L P A S S F L T P P K D K C L S P p.160
. . . . | 04 . . g.25317
GACCTGCCCCTGCCCAAGCAGCTGGTGTGTCGCTGGGCCAAG | TGTAACCAGCTCTTTGAG c.540
D L P L P K Q L V C R W A K | C N Q L F E p.180
. . . . . . g.25377
CTCCTGCAAGACCTGGTGGACCATGTCAACGATTACCATGTCAAGCCCGAGAAGGATGCG c.600
L L Q D L V D H V N D Y H V K P E K D A p.200
. . . . . | 05 . g.25518
GGGTACTGCTGCCACTGGGAGGGCTGCGCCCGCCATGGCCGAGGTTTCAACGCCAG | GTAC c.660
G Y C C H W E G C A R H G R G F N A R | Y p.220
. . . . . . g.25578
AAGATGCTCATCCACATCCGCACACACACCAACGAGAAGCCACACCGCTGTCCGACCTGC c.720
K M L I H I R T H T N E K P H R C P T C p.240
. . . . . | 06 . g.26969
AGCAAGAGCTTCTCCCGCCTGGAGAACCTGAAGATCCACAACCGGTCGCACACAG | GTGAG c.780
S K S F S R L E N L K I H N R S H T G | E p.260
. . . . . . g.27029
AAGCCCTACGTCTGCCCCTACGAGGGCTGCAACAAGCGCTATTCCAACTCCAGTGACCGC c.840
K P Y V C P Y E G C N K R Y S N S S D R p.280
. . . . . . g.27089
TTTAAGCACACGCGCACCCACTATGTGGACAAGCCCTACTACTGCAAGATGCCCGGCTGC c.900
F K H T R T H Y V D K P Y Y C K M P G C p.300
. . . . . . g.27149
CACAAGCGCTACACGGACCCCAGCTCACTGCGCAAGCACATCAAGGCCCATGGCCACTTT c.960
H K R Y T D P S S L R K H I K A H G H F p.320
. . . . . . g.27209
GTGTCCCACGAGCAGCAAGAGCTCCTGCAGCTGCGCCCACCCCCCAAGCCGCCACTGCCC c.1020
V S H E Q Q E L L Q L R P P P K P P L P p.340
. . . . . . g.27269
GCCCCCGACGGCGGCCCCTATGTCAGTGGGGCCCAGATCATCATCCCCAACCCAGCTGCC c.1080
A P D G G P Y V S G A Q I I I P N P A A p.360
. . . . . . g.27329
CTCTTTGGAGGCCCTGGCCTGCCCGGCTTACCCCTACCCCTGGCCCCCGGCCCCCTTGAC c.1140
L F G G P G L P G L P L P L A P G P L D p.380
. . . . . . g.27389
CTCAGTGCCCTGGCCTGTGGCAACGGTGGGGGCAGTGGGGGTGGGGGGGGCATGGGCCCT c.1200
L S A L A C G N G G G S G G G G G M G P p.400
. . . . . . g.27449
GGGCTGCCAGGCCCCGTCCTGCCTCTCAATCTGGCCAAGAACCCGCTGCTGCCCTCGCCC c.1260
G L P G P V L P L N L A K N P L L P S P p.420
. . . . . . g.27509
TTTGGGGCTGGCGGACTGGGCTTGCCTGTGGTCTCCCTCCTTGCTGGCGCAGCTGGTGGC c.1320
F G A G G L G L P V V S L L A G A A G G p.440
. . . . . . g.27569
AAGGCCGAGGGGGAGAAGGGGCGTGGGTCGGTGCCCACCAGGGCCCTGGGCATGGAGGGC c.1380
K A E G E K G R G S V P T R A L G M E G p.460
. . . . . . g.27629
CACAAGACGCCCCTTGAAAGGACGGAGAGCAGCTGCTCCCGGCCAAGCCCCGATGGACTC c.1440
H K T P L E R T E S S C S R P S P D G L p.480
. . . . . . g.27689
CCCCTGCTGCCAGGCACCGTGCTGGACCTGTCCACGGGCGTCAACTCAGCTGCCAGCAGC c.1500
P L L P G T V L D L S T G V N S A A S S p.500
. . . . . . g.27749
CCAGAGGCGTTGGCCCCTGGCTGGGTGGTCATCCCGCCGGGCTCGGTGCTGCTCAAACCG c.1560
P E A L A P G W V V I P P G S V L L K P p.520
. g.27764
GCTGTGGTGAACTGA c.1575
A V V N X p.524
. . . . . . g.27824
gcccatcctgcggacagttgtggtgcccccccggcagctcccggcactgcccccgacgaa c.*60
. . . . . . g.27884
cggaaactcttctgtgaaatagcaataatgtcctactgcccgggcagccccagcccagcc c.*120
. . . . . . g.27944
cgccgggagcaaggatggtgctaggtcattcatggctggcctcccagcccccgggtgggg c.*180
. . . . . . g.28004
acctggcctgtcatgcagggagagctgtgctcctgggtgctgaagcctcgctcctgtctg c.*240
. . . . . . g.28064
tcccccaccacctggccctcagcttctgagaggctttcccctgcccgacctcctcccgtt c.*300
. . . . . . g.28124
tccctctcccaccctggcacctccctcacctagtgaccacccatggcaagttgccctctc c.*360
. . . . . . g.28184
ccagcagagggggtgggtggggtggcatctgccctccctgctagcaccaggctccccctt c.*420
. . . . . . g.28244
cctgagaggagcccccagggaccagaggcctgcccttccctcctaggcttacccagcccc c.*480
. . . . . . g.28304
tgccctgggggctccttggacccctttccctctgaccctgcctccagagggaaagcaaga c.*540
. . . . . . g.28364
cagatgcaggcccctgcaaagccccaggtagaagcatgccccccaggacaaggcgcctcc c.*600
. . . . . . g.28424
cactagttaggaggaggcccgctctgcagccgccgtcctcaccccaggccaggcctgcag c.*660
. . . . . . g.28484
taccagacgggatagctggccactccacccctgcaccccagggtctcctccctctacctt c.*720
. . . . . . g.28544
ttggggcaccctgggagcgtgggaagcaggtccgagggcccctgagctggcaaggggagg c.*780
. . . . . . g.28604
tgccaggccagctgtggtgccaagatactgagtgacctgggccctggctcagggagcatg c.*840
. . . . . . g.28664
tggggccaggcccagcgccccgtcttcctccttctacccccgctgggcctggcctgggca c.*900
. . . . . . g.28724
gcgccccctgcagaggcctttgggtccttggtcctgtaacaggaagggggaggctggctg c.*960
. . . . . . g.28784
gggacgaccgaccacaggctgggacacagctcctggtctgggggctccaagtgacagcat c.*1020
. . . . . . g.28844
gcaggggagggggctcccagtcagtgctgtgttgggagctttctggaggctgtggactga c.*1080
. . . . . . g.28904
aggccttgagggaagcagtggctggaggagggtgctggacccatgacacgttgcttcctc c.*1140
. . . . . . g.28964
tggcttttccctgctgggccgctttctcagaggcacttccccacccctaacacccagtgg c.*1200
. . . . . . g.29024
gcccccccaggttctgtgccactcagagggaccctggcaggggccagaaccacttaaggg c.*1260
. . . . . . g.29084
tggtgctggagggccttgtgccccagtcccatcccaggacgccctgagggatggacgcag c.*1320
. . . . . . g.29144
ccatgcaccccccatctggggcctctccctgctccctctcccacctggcagctgggagtt c.*1380
. . . . . . g.29204
ctggcttctaggcctgccctgtcaccaggcctctgagtggccaggcccttccacctcccc c.*1440
. . . . . . g.29264
atctgtaaaacgaggcagctgcccggacagccttggggtccttagtggccctgcaggtcc c.*1500
. . . . . . g.29324
tctggcagctctgctgaccccaccctctcccggactgcccttctgtcccagaggggtcac c.*1560
. . . . . . g.29384
cctgacccggcccaccttgccactgggctttggactccagccctgacagggcccagccac c.*1620
. . . . . . g.29444
actggctctgcccctcgaaggggctatgagcaaggtaggagggagctggtctcctttctt c.*1680
. . . . . . g.29504
cgggccccacccaggccctgagcaccccccacccctgtgagggccccaggccttaagtcc c.*1740
. . . . . . g.29564
ctggcggggtcatgggtttgcgacttgagcagagcggaggaacagggcactggaaggccg c.*1800
. . . . . . g.29624
acgagctcagcatgcgactcggtgacggaccaggctcggcagggccggtgtactttttgt c.*1860
. . . . . . g.29684
ggttgtcattggtgtgttgttgcacattccaggacgtcagtattttaacaggttctaagt c.*1920
. . . . . . g.29744
gcctttctatcgtagcttatgttttcctcctcttggctccattgctgttagcatagagtt c.*1980
. . . . . . g.29804
ttaaaaaaagagataagctaatgactataacaatatattcctccatgggagaggaagttt c.*2040
. . . g.29837
ataaagaaacaataaaagtgagttgcaaagatg c.*2073
(downstream sequence)
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