(used for variant description)
(last modified October 12, 2013)
This file was created to facilitate the description of sequence variants on transcript NM_003238.3 in the TGFB2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_027721.1, covering TGFB2 transcript NM_003238.3.
(upstream sequence)
. . . . g.5048
gtgatgttatctgctggcagcagaaggttcgctccgagcggagctcca c.-1321
. . . . . . g.5108
gaagctcctgacaagagaaagacagattgagatagagatagaaagagaaagagagaaaga c.-1261
. . . . . . g.5168
gacagcagagcgagagcgcaagtgaaagaggcaggggagggggatggagaatattagcct c.-1201
. . . . . . g.5228
gacggtctagggagtcatccaggaacaaactgaggggctgcccggctgcagacaggagga c.-1141
. . . . . . g.5288
gacagagaggatctattttagggtggcaagtgcctacctaccctaagcgagcaattccac c.-1081
. . . . . . g.5348
gttggggagaagccagcagaggttgggaaagggtgggagtccaagggagcccctgcgcaa c.-1021
. . . . . . g.5408
ccccctcaggaataaaactccccagccagggtgtcgcaagggctgccgttgtgatccgca c.-961
. . . . . . g.5468
gggggtgaacgcaaccgcgacggctgatcgtctgtggctgggttggcgtttggagcaaga c.-901
. . . . . . g.5528
gaaggaggagcaggagaaggagggagctggaggctggaagcgtttgcaagcggcggcggc c.-841
. . . . . . g.5588
agcaacgtggagtaaccaagcgggtcagcgcgcgcccgccagggtgtaggccacggagcg c.-781
. . . . . . g.5648
cagctcccagagcaggatccgcgccgcctcagcagcctctgcggcccctgcggcacccga c.-721
. . . . . . g.5708
ccgagtaccgagcgccctgcgaagcgcaccctcctccccgcggtgcgctgggctcgcccc c.-661
. . . . . . g.5768
cagcgcgcgcacacgcacacacacacacacacacacacacgcacgcacacacgtgtgcgc c.-601
. . . . . . g.5828
ttctctgctccggagctgctgctgctcctgctctcagcgccgcagtggaaggcaggaccg c.-541
. . . . . . g.5888
aaccgctccttctttaaatatataaatttcagcccaggtcagcctcggcggcccccctca c.-481
. . . . . . g.5948
ccgcgctcccggcgcccctcccgtcagttcgccagctgccagccccgggaccttttcatc c.-421
. . . . . . g.6008
tcttcccttttggccggaggagccgagttcagatccgccactccgcacccgagactgaca c.-361
. . . . . . g.6068
cactgaactccacttcctcctcttaaatttatttctacttaatagccactcgtctctttt c.-301
. . . . . . g.6128
tttccccatctcattgctccaagaatttttttcttcttactcgccaaagtcagggttccc c.-241
. . . . . . g.6188
tctgcccgtcccgtattaatatttccacttttggaactactggccttttctttttaaagg c.-181
. . . . . . g.6248
aattcaagcaggatacgtttttctgttgggcattgactagattgtttgcaaaagtttcgc c.-121
. . . . . . g.6308
atcaaaaacaacaacaacaaaaaaccaaacaactctccttgatctatactttgagaattg c.-61
. . . . . . g.6368
ttgatttcttttttttattctgacttttaaaaacaacttttttttccacttttttaaaaa c.-1
. . . . . . g.6428
ATGCACTACTGTGTGCTGAGCGCTTTTCTGATCCTGCATCTGGTCACGGTCGCGCTCAGC c.60
M H Y C V L S A F L I L H L V T V A L S p.20
. . . . . . g.6488
CTGTCTACCTGCAGCACACTCGATATGGACCAGTTCATGCGCAAGAGGATCGAGGCGATC c.120
L S T C S T L D M D Q F M R K R I E A I p.40
. . . . . . g.6548
CGCGGGCAGATCCTGAGCAAGCTGAAGCTCACCAGTCCCCCAGAAGACTATCCTGAGCCC c.180
R G Q I L S K L K L T S P P E D Y P E P p.60
. . . . . . g.6608
GAGGAAGTCCCCCCGGAGGTGATTTCCATCTACAACAGCACCAGGGACTTGCTCCAGGAG c.240
E E V P P E V I S I Y N S T R D L L Q E p.80
. . . . . . g.6668
AAGGCGAGCCGGAGGGCGGCCGCCTGCGAGCGCGAGAGGAGCGACGAAGAGTACTACGCC c.300
K A S R R A A A C E R E R S D E E Y Y A p.100
. . . . | 02 . . g.64849
AAGGAGGTTTACAAAATAGACATGCCGCCCTTCTTCCCCTCCGAAA | ATGCCATCCCGCCC c.360
K E V Y K I D M P P F F P S E N | A I P P p.120
. . . . . . g.64909
ACTTTCTACAGACCCTACTTCAGAATTGTTCGATTTGACGTCTCAGCAATGGAGAAGAAT c.420
T F Y R P Y F R I V R F D V S A M E K N p.140
. . . . . . g.64969
GCTTCCAATTTGGTGAAAGCAGAGTTCAGAGTCTTTCGTTTGCAGAACCCAAAAGCCAGA c.480
A S N L V K A E F R V F R L Q N P K A R p.160
. . . | 03 . . . g.93778
GTGCCTGAACAACGGATTGAGCTATATCAG | ATTCTCAAGTCCAAAGATTTAACATCTCCA c.540
V P E Q R I E L Y Q | I L K S K D L T S P p.180
. . . . . . g.93838
ACCCAGCGCTACATCGACAGCAAAGTTGTGAAAACAAGAGCAGAAGGCGAATGGCTCTCC c.600
T Q R Y I D S K V V K T R A E G E W L S p.200
. . . . | 04 . . g.94021
TTCGATGTAACTGATGCTGTTCATGAATGGCTTCACCATAAAG | ACAGGAACCTGGGATTT c.660
F D V T D A V H E W L H H K D | R N L G F p.220
. . . . . . g.94081
AAAATAAGCTTACACTGTCCCTGCTGCACTTTTGTACCATCTAATAATTACATCATCCCA c.720
K I S L H C P C C T F V P S N N Y I I P p.240
. . . | 05 . . . g.95662
AATAAAAGTGAAGAACTAGAAGCAAGATTTGCAG | GTATTGATGGCACCTCCACATATACC c.780
N K S E E L E A R F A G | I D G T S T Y T p.260
. . . . . . g.95722
AGTGGTGATCAGAAAACTATAAAGTCCACTAGGAAAAAAAACAGTGGGAAGACCCCACAT c.840
S G D Q K T I K S T R K K N S G K T P H p.280
. . . . . . g.95782
CTCCTGCTAATGTTATTGCCCTCCTACAGACTTGAGTCACAACAGACCAACCGGCGGAAG c.900
L L L M L L P S Y R L E S Q Q T N R R K p.300
. . . | 06 . . . g.97037
AAGCGTGCTTTGGATGCGGCCTATTGCTTTAG | AAATGTGCAGGATAATTGCTGCCTACGT c.960
K R A L D A A Y C F R | N V Q D N C C L R p.320
. . . . . . g.97097
CCACTTTACATTGATTTCAAGAGGGATCTAGGGTGGAAATGGATACACGAACCCAAAGGG c.1020
P L Y I D F K R D L G W K W I H E P K G p.340
. . . . . . g.97157
TACAATGCCAACTTCTGTGCTGGAGCATGCCCGTATTTATGGAGTTCAGACACTCAGCAC c.1080
Y N A N F C A G A C P Y L W S S D T Q H p.360
| 07 . . . . . . g.100924
AGCAGG | GTCCTGAGCTTATATAATACCATAAATCCAGAAGCATCTGCTTCTCCTTGCTGC c.1140
S R | V L S L Y N T I N P E A S A S P C C p.380
. . . . . . g.100984
GTGTCCCAAGATTTAGAACCTCTAACCATTCTCTACTACATTGGCAAAACACCCAAGATT c.1200
V S Q D L E P L T I L Y Y I G K T P K I p.400
. . . . g.101029
GAACAGCTTTCTAATATGATTGTAAAGTCTTGCAAATGCAGCTAA c.1245
E Q L S N M I V K S C K C S X p.414
. . . . . . g.101089
aattcttggaaaagtggcaagaccaaaatgacaatgatgatgataatgatgatgacgacg c.*60
. . . . . . g.101149
acaacgatgatgcttgtaacaagaaaacataagagagccttggttcatcagtgttaaaaa c.*120
. . . . . . g.101209
atttttgaaaaggcggtactagttcagacactttggaagtttgtgttctgtttgttaaaa c.*180
. . . . . . g.101269
ctggcatctgacacaaaaaaagttgaaggccttattctacatttcacctactttgtaagt c.*240
. . . . . . g.101329
gagagagacaagaagcaaattttttttaaagaaaaaaataaacactggaagaatttatta c.*300
. . . . . . g.101389
gtgttaattatgtgaacaacgacaacaacaacaacaacaacaaacaggaaaatcccatta c.*360
. . . . . . g.101449
agtggagttgctgtacgtaccgttcctatcccgcgcctcacttgatttttctgtattgct c.*420
. . . . . . g.101509
atgcaataggcacccttcccattcttactcttagagttaacagtgagttatttattgtgt c.*480
. . . . . . g.101569
gttactatataatgaacgtttcattgcccttggaaaataaaacaggtgtataaagtggag c.*540
. . . . . . g.101629
accaaatactttgccagaaactcatggatggcttaaggaacttgaactcaaacgagccag c.*600
. . . . . . g.101689
aaaaaaagaggtcatattaatgggatgaaaacccaagtgagttattatatgaccgagaaa c.*660
. . . . . . g.101749
gtctgcattaagataaagaccctgaaaacacatgttatgtatcagctgcctaaggaagct c.*720
. . . . . . g.101809
tcttgtaaggtccaaaaactaaaaagactgttaataaaagaaactttcagtcagaataag c.*780
. . . . . . g.101869
tctgtaagtttttttttttctttttaattgtaaatggttctttgtcagtttagtaaacca c.*840
. . . . . . g.101929
gtgaaatgttgaaatgttttgacatgtactggtcaaacttcagaccttaaaatattgctg c.*900
. . . . . . g.101989
tatagctatgctataggttttttcctttgttttggtatatgtaaccatacctatattatt c.*960
. . . . . . g.102049
aaaatagatggatatagaagccagcataattgaaaacacatctgcagatctcttttgcaa c.*1020
. . . . . . g.102109
actattaaatcaaaacattaactactttatgtgtaatgtgtaaatttttaccatattttt c.*1080
. . . . . . g.102169
tatattctgtaataatgtcaactatgatttagattgacttaaatttgggctctttttaat c.*1140
. . . . . . g.102229
gatcactcacaaatgtatgtttcttttagctggccagtacttttgagtaaagcccctata c.*1200
. . . . . . g.102289
gtttgacttgcactacaaatgcattttttttttaataacatttgccctacttgtgctttg c.*1260
. . . . . . g.102349
tgtttctttcattattatgacataagctacctgggtccacttgtcttttcttttttttgt c.*1320
. . . . . . g.102409
ttcacagaaaagatgggttcgagttcagtggtcttcatcttccaagcatcattactaacc c.*1380
. . . . . . g.102469
aagtcagacgttaacaaatttttatgttaggaaaaggaggaatgttatagatacatagaa c.*1440
. . . . . . g.102529
aattgaagtaaaatgttttcattttagcaaggatttagggttctaactaaaactcagaat c.*1500
. . . . . . g.102589
ctttattgagttaagaaaagtttctctaccttggtttaatcaatatttttgtaaaatcct c.*1560
. . . . . . g.102649
attgttattacaaagaggacacttcataggaaacatctttttctttagtcaggtttttaa c.*1620
. . . . . . g.102709
tattcagggggaaattgaaagatatatattttagtcgatttttcaaaaggggaaaaaagt c.*1680
. . . . . . g.102769
ccaggtcagcataagtcattttgtgtatttcactgaagttataaggtttttataaatgtt c.*1740
. . . . . . g.102829
ctttgaaggggaaaaggcacaagccaatttttcctatgatcaaaaaattctttctttcct c.*1800
. . . . . . g.102889
ctgagtgagagttatctatatctgaggctaaagtttaccttgctttaataaataatttgc c.*1860
. . . . . . g.102949
cacatcattgcagaagaggtatcctcatgctggggttaatagaatatgtcagtttatcac c.*1920
. . . . . . g.103009
ttgtcgcttatttagctttaaaataaaaattaataggcaaagcaatggaatatttgcagt c.*1980
. . . . . . g.103069
ttcacctaaagagcagcataaggaggcgggaatccaaagtgaagttgtttgatatggtct c.*2040
. . . . . . g.103129
acttcttttttggaatttcctgaccattaattaaagaattggatttgcaagtttgaaaac c.*2100
. . . . . . g.103189
tggaaaagcaagagatgggatgccataatagtaaacagcccttgtgttggatgtaaccca c.*2160
. . . . . . g.103249
atcccagatttgagtgtgtgttgattatttttttgtcttccacttttctattatgtgtaa c.*2220
. . . . . . g.103309
atcacttttatttctgcagacattttcctctcagataggatgacattttgttttgtatta c.*2280
. . . . . . g.103369
ttttgtctttcctcatgaatgcactgataatattttaaatgctctattttaagatctctt c.*2340
. . . . . . g.103429
gaatctgttttttttttttttaatttgggggttctgtaaggtctttatttcccataagta c.*2400
. . . . . . g.103489
aatattgccatgggaggggggtggaggtggcaaggaaggggtgaagtgctagtatgcaag c.*2460
. . . . . . g.103549
tgggcagcaattatttttgtgttaatcagcagtacaatttgatcgttggcatggttaaaa c.*2520
. . . . . . g.103609
aatggaatataagattagctgttttgtattttgatgaccaattacgctgtattttaacac c.*2580
. . . . . . g.103669
gatgtatgtctgtttttgtggtgctctagtggtaaataaattatttcgatgatatgtgga c.*2640
. . . . . . g.103729
tgtctttttcctatcagtaccatcatcgagtctagaaaacacctgtgatgcaataagact c.*2700
. . . . . . g.103789
atctcaagctggaaaagtcataccacctttccgattgccctctgtgctttctcccttaag c.*2760
. . . . . . g.103849
gacagtcacttcagaagtcatgctttaaagcacaagagtcaggccatatccatcaaggat c.*2820
. . . . . . g.103909
agaagaaatccctgtgccgtctttttattcccttatttattgctatttggtaattgtttg c.*2880
. . . . . . g.103969
agatttagtttccatccagcttgactgccgaccagaaaaaatgcagagagatgtttgcac c.*2940
. . . . . . g.104029
catgctttggctttctggttctatgttctgccaacgccagggccaaaagaactggtctag c.*3000
. . . . . . g.104089
acagtatcccctgtagccccataacttggatagttgctgagccagccagatataacaaga c.*3060
. . . . . . g.104149
gccacgtgctttctggggttggttgtttgggatcagctacttgcctgtcagtttcactgg c.*3120
. . . . . . g.104209
taccactgcaccacaaacaaaaaaacccaccctatttcctccaatttttttggctgctac c.*3180
. . . . . . g.104269
ctacaagaccagactcctcaaacgagttgccaatctcttaataaataggattaataaaaa c.*3240
. g.104286
aagtaattgtgactcaa c.*3257
(downstream sequence)
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