(used for variant description)
(last modified November 24, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_001145661.1 in the GATA2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_029334.1, covering GATA2 transcript NM_001145661.1.
(upstream sequence)
. g.9672
actgggtcaagcaca c.-421
. . . . . . g.9732
gccctgagcggccgcgtgtccgaggcccaggtgccctctagagccctgtagttcctgccc c.-361
. . . . . . g.9792
ctctctgcccctctcggctcctgctgttccgccgctgtcgtccgaaccatcccaaccccc c.-301
. . . . . | 02 . g.10282
agtccacccagacagcgcccgagctaggggagggaacggtctgg | gagtcggcagctggcg c.-241
. . . . . . g.10342
ccagggcggccggaggatgccgaggggccggagccgggagggcccgaggccgaggcgcac c.-181
. . . . . . g.10402
tctacccccagctcctaccctgtaagccccgccagcctccggacgtgctgtccctgggcc c.-121
. . . . . . g.10462
cgtcgccctcggggctcccgccggaactccttcactctcagaggccgagtccctcccctc c.-61
. . | 03 . . . . g.11156
cccacggctgcgtgt | ggccgttgccgtctgcacccagaccctgagccgccgccgccggcc c.-1
. . . . . . g.11216
ATGGAGGTGGCGCCCGAGCAGCCGCGCTGGATGGCGCACCCGGCCGTGCTGAATGCGCAG c.60
M E V A P E Q P R W M A H P A V L N A Q p.20
. . . . . . g.11276
CACCCCGACTCACACCACCCGGGCCTGGCGCACAACTACATGGAACCCGCGCAGCTGCTG c.120
H P D S H H P G L A H N Y M E P A Q L L p.40
. . . . . . g.11336
CCTCCAGACGAGGTGGACGTCTTCTTCAATCACCTCGACTCGCAGGGCAACCCCTACTAT c.180
P P D E V D V F F N H L D S Q G N P Y Y p.60
. . . . | 04 . g.11830
GCCAACCCCGCTCACGCGCGGGCGCGCGTCTCCTACAGCCCCGCGCACG | CCCGCCTGACC c.240
A N P A H A R A R V S Y S P A H A | R L T p.80
. . . . . . g.11890
GGAGGCCAGATGTGCCGCCCACACTTGTTGCACAGCCCGGGTTTGCCCTGGCTGGACGGG c.300
G G Q M C R P H L L H S P G L P W L D G p.100
. . . . . . g.11950
GGCAAAGCAGCCCTCTCTGCCGCTGCGGCCCACCACCACAACCCCTGGACCGTGAGCCCC c.360
G K A A L S A A A A H H H N P W T V S P p.120
. . . . . . g.12010
TTCTCCAAGACGCCACTGCACCCCTCAGCTGCTGGAGGCCCTGGAGGCCCACTCTCTGTG c.420
F S K T P L H P S A A G G P G G P L S V p.140
. . . . . . g.12070
TACCCAGGGGCTGGGGGTGGGAGCGGGGGAGGCAGCGGGAGCTCAGTGGCCTCCCTCACC c.480
Y P G A G G G S G G G S G S S V A S L T p.160
. . . . . . g.12130
CCTACAGCAGCCCACTCTGGCTCCCACCTTTTCGGCTTCCCACCCACGCCACCCAAAGAA c.540
P T A A H S G S H L F G F P P T P P K E p.180
. . . . . . g.12190
GTGTCTCCTGACCCTAGCACCACGGGGGCTGCGTCTCCAGCCTCATCTTCCGCGGGGGGT c.600
V S P D P S T T G A A S P A S S S A G G p.200
. . . . . . g.12250
AGTGCAGCCCGAGGAGAGGACAAGGACGGCGTCAAGTACCAGGTGTCACTGACGGAGAGC c.660
S A A R G E D K D G V K Y Q V S L T E S p.220
. . . . . . g.12310
ATGAAGATGGAAAGTGGCAGTCCCCTGCGCCCAGGCCTAGCTACTATGGGCACCCAGCCT c.720
M K M E S G S P L R P G L A T M G T Q P p.240
. . . . . . g.12370
GCTACACACCACCCCATCCCCACCTACCCCTCCTATGTGCCGGCGGCTGCCCACGACTAC c.780
A T H H P I P T Y P S Y V P A A A H D Y p.260
. . . . . . g.12430
AGCAGCGGACTCTTCCACCCCGGAGGCTTCCTGGGGGGACCGGCCTCCAGCTTCACCCCT c.840
S S G L F H P G G F L G G P A S S F T P p.280
. . . | 05 . . . g.14211
AAGCAGCGCAGCAAGGCTCGTTCCTGTTCAG | AAGGCCGGGAGTGTGTCAACTGTGGGGCC c.900
K Q R S K A R S C S E | G R E C V N C G A p.300
. . . . . . g.14271
ACAGCCACCCCTCTCTGGCGGCGGGACGGCACCGGCCACTACCTGTGCAATGCCTGTGGC c.960
T A T P L W R R D G T G H Y L C N A C G p.320
. . . . . | 06. g.16246
CTCTACCACAAGATGAATGGGCAGAACCGACCACTCATCAAGCCCAAGCGAAGACTG | TCG c.1020
L Y H K M N G Q N R P L I K P K R R L | S p.340
. . . . . . g.16306
GCCGCCAGAAGAGCCGGCACCTGTTGTGCAAATTGTCAGACGACAACCACCACCTTATGG c.1080
A A R R A G T C C A N C Q T T T T T L W p.360
. . . . . . g.16366
CGCCGAAACGCCAACGGGGACCCTGTCTGCAACGCCTGTGGCCTCTACTACAAGCTGCAC c.1140
R R N A N G D P V C N A C G L Y Y K L H p.380
| 07 . . . . . . g.16926
AAT | GTTAACAGGCCACTGACCATGAAGAAGGAAGGGATCCAGACTCGGAACCGGAAGATG c.1200
N | V N R P L T M K K E G I Q T R N R K M p.400
. . . . . . g.16986
TCCAACAAGTCCAAGAAGAGCAAGAAAGGGGCGGAGTGCTTCGAGGAGCTGTCAAAGTGC c.1260
S N K S K K S K K G A E C F E E L S K C p.420
. . . . . . g.17046
ATGCAGGAGAAGTCATCCCCCTTCAGTGCAGCTGCCCTGGCTGGACACATGGCACCTGTG c.1320
M Q E K S S P F S A A A L A G H M A P V p.440
. . . . . . g.17106
GGCCACCTCCCGCCCTTCAGCCACTCCGGACACATCCTGCCCACTCCGACGCCCATCCAC c.1380
G H L P P F S H S G H I L P T P T P I H p.460
. . . . . . g.17166
CCCTCCTCCAGCCTCTCCTTCGGCCACCCCCACCCGTCCAGCATGGTGACCGCCATGGGC c.1440
P S S S L S F G H P H P S S M V T A M G p.480
g.17169
TAG c.1443
X p.480
. . . . . . g.17229
ggaacagatggacgtcgaggaccgggcactcccgggatgggtggaccaaacccttagcag c.*60
. . . . . . g.17289
cccagcatttcccgaaggccgacaccactcctgccagcccggctcggcccagcaccccct c.*120
. . . . . . g.17349
ctcctggagggcgcccagcagcctgccagcagttactgtgaatgttccccaccgctgaga c.*180
. . . . . . g.17409
ggctgcctccgcacctgaccgctgcccaggtggggtttcctgcatggacagttgtttgga c.*240
. . . . . . g.17469
gaacaacaaggacaactttatgtagagaaaaggaggggacgggacagacgaaggcaacca c.*300
. . . . . . g.17529
tttttagaaggaaaaaggattaggcaaaaataatttattttgctcttgtttctaacaagg c.*360
. . . . . . g.17589
acttggagacttggtggtctgagctgtcccaagtcctccggttcttcctcgggattggcg c.*420
. . . . . . g.17649
ggtccacttgccagggctctgggggcagatttgtggggacctcagcctgcaccctcttct c.*480
. . . . . . g.17709
cctctggcttccctctctgaaatagccgaactccaggctgggctgagccaaagccagagt c.*540
. . . . . . g.17769
ggccacggcccagggagggtgagctggtgcctgctttgacgggccaggccctggagggca c.*600
. . . . . . g.17829
gagacaatcacgggcggtcctgcacagattcccaggccagggctgggtcacaggaaggaa c.*660
. . . . . . g.17889
acaacattttcttgaaaggggaaacgtctcccagatcgctcccttggctttgaggccgaa c.*720
. . . . . . g.17949
gctgctgtgactgtgtccccttactgagcgcaagccacagcctgtcttgtcaggtggacc c.*780
. . . . . . g.18009
ctgtaaatacatcctttttctgctaacccttcaaccccctcgcctcctactctgagacaa c.*840
. . . . . . g.18069
aagaaaaaatattaaaaaaatgcataggcttaactcgctgatgagttaattgttttattt c.*900
. . . . . . g.18129
ttaaactctttttgggtccagttgattgtacgtagccacaggagccctgctatgaaagga c.*960
. . . . . . g.18189
ataaaacctacacacaaggttggagctttgcaattctttttggaaaagagctgggatccc c.*1020
. . . . . . g.18249
acagccctagtatgaaagctgggggtggggaggggcctttgctgcccttggtttctgggg c.*1080
. . . . . . g.18309
gctggttggcatttgctggcctggcagggggtgaaggcaggagttgggggcaggtcagga c.*1140
. . . . . . g.18369
ccaggacccagggagaggctgtgtccctgctggggtctcaggtccagctttactgtggct c.*1200
. . . . . . g.18429
gtctggatccttcccaaggtacagctgtatataaacgtgtcccgagcttagattctgtat c.*1260
. . . . . . g.18489
gcggtgacggcggggtgtggtggcctgtgaggggcccctggcccaggaggaggattgtgc c.*1320
. . . . . . g.18549
tgatgtagtgaccaagtgcaatatgggcgggcagtcgctgcagggagcaccacggccaga c.*1380
. . . . . . g.18609
agtaacttattttgtactagtgtccgcataagaaaaagaatcggcagtattttctgtttt c.*1440
. . . . . . g.18669
tatgttttatttggcttgttttattttggattagtgaactaagttattgttaattatgta c.*1500
. . . . . . g.18729
caacatttatatattgtctgtaaaaaatgtatgctatcctcttattcctttaaagtgagt c.*1560
. . . g.18766
actgttaagaataataaaatactttttgtgaatgccc c.*1597
(downstream sequence)
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