(used for variant description)
(last modified September 14, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_020699.2 in the GATAD2B gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_050988.1, covering GATAD2B transcript NM_020699.2.
(upstream sequence)
g.5004
agcg c.-241
. . . . . . g.5064
tccttgtttgtgtggtgccgccgccgccggtgcagccgtcgccgccgccgctgcccccgt c.-181
. . . . . . g.5124
ctgtaccgcagtgtctgctccgcccgcccgccccggtccggcccgcccccctcccctacc c.-121
. . . . . . g.5184
cccgtccctagtcccgtcagcagggtctggatcccctgtgccgtcgcctcttcctttttc c.-61
. . . . . . | 02 g.99628
gacgcctccgccgccgcctgaggaggcgagctagccgggagttacaccgccaccgccag | g c.-1
. . . . . . g.99688
ATGGATAGAATGACAGAAGATGCTCTTCGCTTGAATCTGTTGAAGCGGAGCTTGGACCCA c.60
M D R M T E D A L R L N L L K R S L D P p.20
. . . . . . g.99748
GCAGATGAGCGAGATGATGTCCTGGCAAAGCGACTCAAAATGGAGGGGCATGAGGCCATG c.120
A D E R D D V L A K R L K M E G H E A M p.40
. . . . . . g.99808
GAACGTCTGAAAATGTTGGCATTGCTCAAAAGGAAGGATTTGGCAAATCTTGAGGTGCCA c.180
E R L K M L A L L K R K D L A N L E V P p.60
. . . . . . g.99868
CATGAGTTACCCACCAAACAGGATGGCAGTGGTGTCAAGGGCTATGAAGAAAAACTTAAC c.240
H E L P T K Q D G S G V K G Y E E K L N p.80
. . . . . . g.99928
GGGAATCTCAGGCCTCATGGAGACAACAGGACTGCTGGAAGGCCAGGCAAAGAAAACATC c.300
G N L R P H G D N R T A G R P G K E N I p.100
. . . | 03 . . . g.108265
AATGATGAGCCTGTGGATATGAGTGCTAGACGGAG | TGAGCCAGAGCGAGGAAGGCTAACT c.360
N D E P V D M S A R R S | E P E R G R L T p.120
. . . . . . g.108325
CCCTCACCAGACATCATTGTTTTGTCTGACAATGAGGCTTCCAGTCCCCGTTCCAGTTCC c.420
P S P D I I V L S D N E A S S P R S S S p.140
. . . . | 04 . . g.109068
AGAATGGAAGAAAGACTCAAAGCAGCCAACTTAGAGATGTTTAAG | GGGAAAGGCATTGAG c.480
R M E E R L K A A N L E M F K | G K G I E p.160
. . . . . . g.109128
GAGCGGCAGCAGCTTATCAAGCAGCTGAGGGATGAGCTACGATTGGAAGAAGCCCGACTG c.540
E R Q Q L I K Q L R D E L R L E E A R L p.180
. . . . . | 05. g.109807
GTCCTGTTAAAGAAACTGAGACAGAGTCAGCTACAGAAAGAGAATGTGGTCCAGAAG | ACT c.600
V L L K K L R Q S Q L Q K E N V V Q K | T p.200
. . . . . . g.109867
CCAGTTGTACAGAATGCAGCATCTATTGTTCAGCCATCTCCTGCCCATGTGGGACAGCAG c.660
P V V Q N A A S I V Q P S P A H V G Q Q p.220
. . . . . . g.109927
GGCCTATCTAAGCTTCCCTCTCGGCCTGGGGCCCAAGGGGTTGAACCTCAAAATTTGAGA c.720
G L S K L P S R P G A Q G V E P Q N L R p.240
| 06 . . . . . g.110484
ACATTACAG | GGTCACAGTGTCATCCGTTCAGCTACCAATACCACCCTTCCACACATGTTG c.780
T L Q | G H S V I R S A T N T T L P H M L p.260
. . . . . . g.110544
ATGTCTCAACGTGTTATTGCACCAAACCCAGCCCAGCTACAGGGTCAGCGGGGCCCGCCT c.840
M S Q R V I A P N P A Q L Q G Q R G P P p.280
. . . . . . g.110604
AAGCCTGGCCTTGTACGCACCACAACACCCAACATGAATCCCGCCATCAATTATCAACCG c.900
K P G L V R T T T P N M N P A I N Y Q P p.300
| 07 . . . . . . g.111447
| CAGTCAAGTTCTTCTGTTCCATGTCAGCGTACAACATCCTCTGCCATCTATATGAACCTT c.960
| Q S S S S V P C Q R T T S S A I Y M N L p.320
. . . . . . g.111507
GCTTCTCATATCCAGCCAGGGACGGTGAACAGAGTGTCCTCGCCACTTCCTAGCCCCAGC c.1020
A S H I Q P G T V N R V S S P L P S P S p.340
. . . . . . g.111567
GCCATGACTGATGCTGCCAACTCACAGGCTGCAGCCAAATTGGCTCTTCGCAAACAGCTG c.1080
A M T D A A N S Q A A A K L A L R K Q L p.360
. . . . . . g.111627
GAAAAGACACTCCTGGAGATCCCACCCCCTAAACCTCCTGCTCCCTTACTTCATTTCTTG c.1140
E K T L L E I P P P K P P A P L L H F L p.380
. . . . . . g.111687
CCTAGTGCAGCCAATAGCGAGTTCATCTACATGGTAGGCTTGGAAGAAGTCGTACAGAGT c.1200
P S A A N S E F I Y M V G L E E V V Q S p.400
. | 08 . . . . . g.114567
GTCATTGACAGCCAAG | GCAAAAGCTGTGCCTCACTTCTGCGGGTTGAACCCTTTGTATGT c.1260
V I D S Q G | K S C A S L L R V E P F V C p.420
. . . . . . g.114627
GCCCAGTGCCGCACAGATTTCACCCCTCACTGGAAGCAAGAAAAGAATGGTAAGATTCTA c.1320
A Q C R T D F T P H W K Q E K N G K I L p.440
. . . . . . g.114687
TGTGAGCAGTGTATGACCTCCAACCAGAAAAAGGCTCTAAAAGCTGAACACACCAACCGG c.1380
C E Q C M T S N Q K K A L K A E H T N R p.460
. . . | 09 . . g.115864
CTGAAAAATGCATTTGTGAAAGCCCTACAGCAGGAACAG | GAAATTGAACAGCGATTACAG c.1440
L K N A F V K A L Q Q E Q | E I E Q R L Q p.480
. . . . . . g.115924
CAGCAGGCAGCCCTCTCCCCCACTACGGCTCCAGCTGTGTCCAGTGTCAGTAAACAAGAG c.1500
Q Q A A L S P T T A P A V S S V S K Q E p.500
. . . | 10 . . . g.116157
ACCATCATGAGACATCATACGCTTCGGCAG | GCTCCACAGCCCCAGAGCAGCCTCCAGCGT c.1560
T I M R H H T L R Q | A P Q P Q S S L Q R p.520
. . . . . . g.116217
GGCATACCCACATCTGCCCGCTCCATGCTTTCAAACTTTGCACAGGCACCCCAGTTGTCT c.1620
G I P T S A R S M L S N F A Q A P Q L S p.540
. . | 11 . . . g.117697
GTGCCAGGTGGCCTCCTTGGTATGCCAG | GTGTCAACATTGCATACTTGAATACTGGCATC c.1680
V P G G L L G M P G | V N I A Y L N T G I p.560
. . . . . . g.117757
GGAGGACACAAAGGCCCCAGTTTGGCAGACCGACAGCGTGAATACCTTTTAGACATGATC c.1740
G G H K G P S L A D R Q R E Y L L D M I p.580
. . . . g.117799
CCTCCCCGGTCTATATCGCAGTCCATCAGTGGACAGAAATAA c.1782
P P R S I S Q S I S G Q K X p.593
. . . . . . g.117859
cgcctgttccacttgtactgccccatccttgaatcctttatccctttcctctttcattcc c.*60
. . . . . . g.117919
cccaacttctgtcgcatgcagtgcctgtactggtgcctaccatacacggaaagcaaaaca c.*120
. . . . . . g.117979
gaaaaacagaagacaaaaaatagagatcagcaagaaaacacacgccctgccctgccacct c.*180
. . . . . . g.118039
cccctttatttcacactgctgcgatctgttcttctgccgctctgtcttctctcttcagtt c.*240
. . . . . . g.118099
ttctttaacagtgaggtggatctttacctctgatagaggtcagaatgaggtcctggggag c.*300
. . . . . . g.118159
aatctaagccctccgatgtgtgtttctaaagttgttttatgctataattattaccatttt c.*360
. . . . . . g.118219
taatgatgttgtgtgtcctccctttgttcagtggacggttaaaccttcccccactcaacc c.*420
. . . . . . g.118279
aatctttttctttttccttttcttccttttttttttttttttttgtaaacacaaatgaca c.*480
. . . . . . g.118339
ttcagttcaatgatacgagcattgcagattgcagtaggggtcccagctgccaagtaggac c.*540
. . . . . . g.118399
atgactaggagtgttaggggcagaagttttgaatgcacttaaccggaggagggcgcaggg c.*600
. . . . . . g.118459
tggggggtatcaaagaaggacgaatagcaccctacctgtgggtgtttgggggctggacaa c.*660
. . . . . . g.118519
tttgggtggcagtgtttggtactgaagttgggctctaagaatgaggggaaagagcctggg c.*720
. . . . . . g.118579
gaggagcttaaaactcaaccactctggaatttacccatagaagacgggaagaaagaggta c.*780
. . . . . . g.118639
tgaagatgggctcaattatgagccagggaggattgaaactaggtcctgcctttctgtatc c.*840
. . . . . . g.118699
ttggggaaataagaccgatctcctgaccccattgggaacacggaagtctattccaggcca c.*900
. . . . . . g.118759
accagcccaaaattatttcatcttgtattctttgtaaaattctccctcaccccaccctgc c.*960
. . . . . . g.118819
ttttaaaaattctaatctatcccctctaaccatagccccatctataatacagaggaacgg c.*1020
. . . . . . g.118879
ctgttccaaggctgtttgctgggtgtcccacaagttgggtggacataaatgagtcaagtg c.*1080
. . . . . . g.118939
acaacaggaggaaatagacttagacgaaagaaaggatttctcttccaacagttgagattc c.*1140
. . . . . . g.118999
gcatatttgcctattctttcaccctctgagtgccaggagatgagaggctgggggtacaca c.*1200
. . . . . . g.119059
atcaggttggagtcctgtccttactctgctgcaccagctgcagaaccaactgctcaaagc c.*1260
. . . . . . g.119119
caaacagctcatggcaaaaccagcttaggacctctgctgtacaaatagttgcttcccact c.*1320
. . . . . . g.119179
gccccccgcccgcccccagaatgatattaattttgccttttttttttttttttttttaag c.*1380
. . . . . . g.119239
cgctactaatgtagagaatgaattgaattgtgcaatgttgctgttctggggactggggag c.*1440
. . . . . . g.119299
attagcatcccatttgcccacactgtgggaagacggagtggaccaggctgtttttgaagt c.*1500
. . . . . . g.119359
aagggaagccccttaaaggtacgggtttctgctcttctcatagtgtacacccacctgcct c.*1560
. . . . . . g.119419
ctctggctccagaagctgccagagtgcactggggggaatgttctcagcagagaagaatga c.*1620
. . . . . . g.119479
ggagaagtttaatattttgcccttgaaagtcacctgaggaagtttccccacttttatttt c.*1680
. . . . . . g.119539
ttaaaattaagtaattttttaaagaaggcacttttaaaattaacacacacatgaactgca c.*1740
. . . . . . g.119599
caccttccccataaaatttggaggtggggtgggagaaagagctaaaatcaggctcagttc c.*1800
. . . . . . g.119659
ccctactctggcctctactccccacaccccagtgccactgtgggtgactatactggccct c.*1860
. . . . . . g.119719
acgggccttcctggcttttttctttcctcccttaccccaaattcattgagcacttaaagg c.*1920
. . . . . . g.119779
agcagagatgcagccagtgtctgggctcccccagtggtgaaatgatctggaagctagatg c.*1980
. . . . . . g.119839
ctagtaacaggtagtgattgggttttttgagtatttttccggggaatgtggtacccctga c.*2040
. . . . . . g.119899
ctgtaagtggtgggagagggaggggggttaatggaactgggtctgggattattttaaaat c.*2100
. . . . . . g.119959
tatatatatatatataaagatatattcttacatcttttctttgccctctgtgctttgaaa c.*2160
. . . . . . g.120019
gcactggataaattgtttggttttgcttttctctcttccacaaaattggaagcttttttt c.*2220
. . . . . . g.120079
aaaaatgttttccccacaagtcatcttgccttgtggcatgtctgtctagcctcttcctcc c.*2280
. . . . . . g.120139
ctccctcatgatgaagtgccatttctgttacgtctccctctccccaagctcagaggtgct c.*2340
. . . . . . g.120199
cagaggtacgagatgcccaagtttgtcagttgagattaaaagtaaggaacagagaatgtg c.*2400
. . . . . . g.120259
caataccgtctggctgggggctgtccctgccctgccctgagctgagtcctttccctggga c.*2460
. . . . . . g.120319
gccaggccaccttagaatggggtttggaagtaagatgtatagagttggggaatcatggag c.*2520
. . . . . . g.120379
aaggaaagcctatagtcgagtgcctgcttaggtgctgaggtcacaggggagatggtggaa c.*2580
. . . . . . g.120439
tcttccctgtttttatcccctcagggtcagttacatagaagctgcttcttgactagtata c.*2640
. . . . . . g.120499
gctcggtgaccctttgttcaaccgctgaggtttgatttcttaccctttcttctccccatt c.*2700
. . . . . . g.120559
ttcatactcttcccagggattagtgatggaggtgaggtctccctaatcatggtaaagtgt c.*2760
. . . . . . g.120619
taaccttccacctcctcccttccctcctccttcctcatccttctgtcttcctcaattctc c.*2820
. . . . . . g.120679
cgtctcttttttttcatcactgattgccttgtgtccctccaagtctacttgttactatcc c.*2880
. . . . . . g.120739
atctccaggctctgggccgtgtagacactaaacctcatgccctaaggacaggaggaaaga c.*2940
. . . . . . g.120799
ccctctgtttggagcattattagtagagtgaggatcccaccagttctgcctggcttcctc c.*3000
. . . . . . g.120859
catccccagaggcactaaaagcagtattttaaggttggtgtcttactccctggaagcctg c.*3060
. . . . . . g.120919
aaatgggtggaatagcggtaaggcttgagtaaaactaggggacagaggttcttatttgtc c.*3120
. . . . . . g.120979
gattttattttataatttgaccacagcatctgaactccctctctccctggaataagtatt c.*3180
. . . . . . g.121039
tttcccacatttttggatatatgtatggtagacaatttttttttaagacacagagataaa c.*3240
. . . . . . g.121099
tgttttcctgctttggttacctttcctttcccctttaaaaggaattagctatagaactgc c.*3300
. . . . . . g.121159
tttgtaaagatgcttcttgatattttacttttgttccttttccctaatcattcccttttc c.*3360
. . . . . . g.121219
tccccactcctccagaaggcataacccttctctccacaccccctacccccacccccgtcc c.*3420
. . . . . . g.121279
taggctcccatcctttccatcaagaccttcattagcttatgatatttgctgccgagatgt c.*3480
. . . . . . g.121339
tataacaaggactcgttcatgtatataagctatttcttgatccatttaaaaggaattgta c.*3540
. . . . . . g.121399
cattgtgtagaaaaaaaaaaaaacctgaaaaagagaaaaaaaagccctagccatggatat c.*3600
. . . . . . g.121459
tgtgaaactgtgttatgtcattttgtaatgtgcccgtttgtgtatgatccgtgcaaaagg c.*3660
. . . . . . g.121519
gtttctggggaaggggagggggtagggaggcagggctgtggagggtgggtaggggagtgg c.*3720
. . . . . . g.121579
gccgggcccagcacactgagactggcagctgctccaaccccatccctccttagagatgcc c.*3780
. . . . . . g.121639
acctcccccaccacccacccctaatttgtgccttgcctccccaccctggagtagtccctc c.*3840
. . . . . . g.121699
cgggtcaccagcactgccttggcagagcccactccctaccctaacctgcccaccctccct c.*3900
. . . . . . g.121759
atcccccagcattaggttgatactgtggggaagtgctgggggctgggaggtagccgagga c.*3960
. . . . . . g.121819
atggggcagttcccgggggcatcgaaaccaagtattattatgaattgtaattgtatttgc c.*4020
. . . . . . g.121879
actgtttttttcctctgattgcatcagcatatatacaatatacctatataacaaaattca c.*4080
. . . . . . g.121939
gtgtcaagctttcttatgcaagggatttcccccaccccacctcctcaaaaaagaaagaac c.*4140
. . . . . . g.121999
ctagtcttatgggcctttgagggtggattgtcaggggatgatagaaaggattttaataag c.*4200
. . . . . . g.122059
tcatcctgaggaaatttcacctagtgagagccacatccatctgcacagccttaggctgcg c.*4260
. . . . . . g.122119
tgaaccgaggtgaggctgagctcctgtgaaagccaagacctcctggtccaggactttgta c.*4320
. . . . . . g.122179
gagtaaaaagaaccaccaacacaaaaggggttgagggggctacaatctggagacctgggg c.*4380
. . . . . . g.122239
tctcctactaacttgctatatgatctttggtagagttaattttctgagtatcaattttct c.*4440
. . . . . . g.122299
tatctgtgaagtgaagagggggatcatctggccaccaagtttaaaattctatacttctca c.*4500
. . . . . . g.122359
cctgccaaaaccaaaaaacaacttgaggtgaggaaagtgttgggcccagaaaccagggag c.*4560
. . . . . . g.122419
gaactgaaagtgactcgcgttgaagtggttatgtgtatgacaatgctcttggagaactgc c.*4620
. . . . . . g.122479
cagtcctctatggttacccttgatttgggagaggcagcagagtcatgtccagggcatcag c.*4680
. . . . . . g.122539
accagtgacatctttgcctttatgcctctagtcatctgagggcggggactaggcctcaag c.*4740
. . . . . . g.122599
ccccatctcacagccaaccacagagcccttaagggtggttgacaattgaatgccccaggt c.*4800
. . . . . . g.122659
tggtgctttagttatttactccctttgtgagctacaggatgtgtaacttttcccccatct c.*4860
. . . . . . g.122719
tggtgataaaataggagagcgcagacacagcccacattttgtctcctttcctcagatttc c.*4920
. . . . . . g.122779
atctgaaccccgctaaaggcagctgtttcacagtctgtctccttcaggggcccaatttcc c.*4980
. . . . . . g.122839
ccacagcctgggctgagtactcctactctcttctttaggttctgggctgataaagcctgg c.*5040
. . . . . . g.122899
agagggtacagggtgatgggtgaagccctggtgaaggtgaaaggatagattggggttggg c.*5100
. . . . . . g.122959
gggtggggagcagggaggtgggatggggaatggccttccctgaatagggtgggtgggagg c.*5160
. . . . . . g.123019
ggaacaagacccttttgcacaactctctttaagtttcctttatttcttttttaactcatt c.*5220
. . . . . . g.123079
ctgattttctgcattgtgtttgggaaataaaatgaaaaaactaagaccaatagaaactgg c.*5280
. . . . . . g.123139
ttttcaaaaaggcaaatacactcccatctgtttcagatgctgctgagcatttcagcagtg c.*5340
. . . . . . g.123199
acagattcaaataataagctaatttttggagaaaggattaaaagaaaaaaaaactttgta c.*5400
. . . . . g.123251
atatttatcacttgcaagctatgtttaataaagaaaggaatggtttctaaaa c.*5452
(downstream sequence)
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