(used for variant description)
(last modified October 30, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_001024847.2 in the TGFBR2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_007490.1, covering TGFBR2 transcript NM_001024847.2.
(upstream sequence)
. . g.5022
ggagagggagaaggctctcggg c.-361
. . . . . . g.5082
cggagagaggtcctgcccagctgttggcgaggagtttcctgtttcccccgcagcgctgag c.-301
. . . . . . g.5142
ttgaagttgagtgagtcactcgcgcgcacggagcgacgacacccccgcgcgtgcacccgc c.-241
. . . . . . g.5202
tcgggacaggagccggactcctgtgcagcttccctcggccgccgggggcctccccgcgcc c.-181
. . . . . . g.5262
tcgccggcctccaggccccctcctggctggcgagcgggcgccacatctggcccgcacatc c.-121
. . . . . . g.5322
tgcgctgccggcccggcgcggggtccggagagggcgcggcgcggaggcgcagccaggggt c.-61
. . . . . . g.5382
ccgggaaggcgccgtccgctgcgctgggggctcggtctatgacgagcagcggggtctgcc c.-1
. . . . . . g.5442
ATGGGTCGGGGGCTGCTCAGGGGCCTGTGGCCGCTGCACATCGTCCTGTGGACGCGTATC c.60
M G R G L L R G L W P L H I V L W T R I p.20
. . . | 02 . . . g.21723
GCCAGCACGATCCCACCGCACGTTCAGAAGTCGG | ATGTGGAAATGGAGGCCCAGAAAGAT c.120
A S T I P P H V Q K S D | V E M E A Q K D p.40
. . . . | 03 . g.43256
GAAATCATCTGCCCCAGCTGTAATAGGACTGCCCATCCACTGAGACATA | TTAATAACGAC c.180
E I I C P S C N R T A H P L R H I | N N D p.60
. . . . . . g.43316
ATGATAGTCACTGACAACAACGGTGCAGTCAAGTTTCCACAACTGTGTAAATTTTGTGAT c.240
M I V T D N N G A V K F P Q L C K F C D p.80
. . . . . . g.43376
GTGAGATTTTCCACCTGTGACAACCAGAAATCCTGCATGAGCAACTGCAGCATCACCTCC c.300
V R F S T C D N Q K S C M S N C S I T S p.100
. . . | 04 . . g.48790
ATCTGTGAGAAGCCACAGGAAGTCTGTGTGGCTGTATG | GAGAAAGAATGACGAGAACATA c.360
I C E K P Q E V C V A V W | R K N D E N I p.120
. . . . . . g.48850
ACACTAGAGACAGTTTGCCATGACCCCAAGCTCCCCTACCATGACTTTATTCTGGAAGAT c.420
T L E T V C H D P K L P Y H D F I L E D p.140
. . . . . . g.48910
GCTGCTTCTCCAAAGTGCATTATGAAGGAAAAAAAAAAGCCTGGTGAGACTTTCTTCATG c.480
A A S P K C I M K E K K K P G E T F F M p.160
. . . . | 05 . g.70147
TGTTCCTGTAGCTCTGATGAGTGCAATGACAACATCATCTTCTCAGAAG | AATATAACACC c.540
C S C S S D E C N D N I I F S E E | Y N T p.180
. . . . . . g.70207
AGCAATCCTGACTTGTTGCTAGTCATATTTCAAGTGACAGGCATCAGCCTCCTGCCACCA c.600
S N P D L L L V I F Q V T G I S L L P P p.200
. . . . . . g.70267
CTGGGAGTTGCCATATCTGTCATCATCATCTTCTACTGCTACCGCGTTAACCGGCAGCAG c.660
L G V A I S V I I I F Y C Y R V N R Q Q p.220
. . . . . . g.70327
AAGCTGAGTTCAACCTGGGAAACCGGCAAGACGCGGAAGCTCATGGAGTTCAGCGAGCAC c.720
K L S S T W E T G K T R K L M E F S E H p.240
. . . . . . g.70387
TGTGCCATCATCCTGGAAGATGACCGCTCTGACATCAGCTCCACGTGTGCCAACAACATC c.780
C A I I L E D D R S D I S S T C A N N I p.260
. . . . . . g.70447
AACCACAACACAGAGCTGCTGCCCATTGAGCTGGACACCCTGGTGGGGAAAGGTCGCTTT c.840
N H N T E L L P I E L D T L V G K G R F p.280
. . . . . . g.70507
GCTGAGGTCTATAAGGCCAAGCTGAAGCAGAACACTTCAGAGCAGTTTGAGACAGTGGCA c.900
A E V Y K A K L K Q N T S E Q F E T V A p.300
. . . . . . g.70567
GTCAAGATCTTTCCCTATGAGGAGTATGCCTCTTGGAAGACAGAGAAGGACATCTTCTCA c.960
V K I F P Y E E Y A S W K T E K D I F S p.320
. . . . . . g.70627
GACATCAATCTGAAGCATGAGAACATACTCCAGTTCCTGACGGCTGAGGAGCGGAAGACG c.1020
D I N L K H E N I L Q F L T A E E R K T p.340
. . . . . . g.70687
GAGTTGGGGAAACAATACTGGCTGATCACCGCCTTCCACGCCAAGGGCAACCTACAGGAG c.1080
E L G K Q Y W L I T A F H A K G N L Q E p.360
. . . . . . g.70747
TACCTGACGCGGCATGTCATCAGCTGGGAGGACCTGCGCAAGCTGGGCAGCTCCCTCGCC c.1140
Y L T R H V I S W E D L R K L G S S L A p.380
. . . . . . g.70807
CGGGGGATTGCTCACCTCCACAGTGATCACACTCCATGTGGGAGGCCCAAGATGCCCATC c.1200
R G I A H L H S D H T P C G R P K M P I p.400
. . . . . . g.70867
GTGCACAGGGACCTCAAGAGCTCCAATATCCTCGTGAAGAACGACCTAACCTGCTGCCTG c.1260
V H R D L K S S N I L V K N D L T C C L p.420
. . . . . . g.70927
TGTGACTTTGGGCTTTCCCTGCGTCTGGACCCTACTCTGTCTGTGGATGACCTGGCTAAC c.1320
C D F G L S L R L D P T L S V D D L A N p.440
| 06 . . . . . g.72654
AGTGGGCAG | GTGGGAACTGCAAGATACATGGCTCCAGAAGTCCTAGAATCCAGGATGAAT c.1380
S G Q | V G T A R Y M A P E V L E S R M N p.460
. . . . . . g.72714
TTGGAGAATGTTGAGTCCTTCAAGCAGACCGATGTCTACTCCATGGCTCTGGTGCTCTGG c.1440
L E N V E S F K Q T D V Y S M A L V L W p.480
. . . | 07 . . . g.86911
GAAATGACATCTCGCTGTAATGCAGTGGGAG | AAGTAAAAGATTATGAGCCTCCATTTGGT c.1500
E M T S R C N A V G E | V K D Y E P P F G p.500
. . . . . . g.86971
TCCAAGGTGCGGGAGCACCCCTGTGTCGAAAGCATGAAGGACAACGTGTTGAGAGATCGA c.1560
S K V R E H P C V E S M K D N V L R D R p.520
. . . | 08 . . g.89939
GGGCGACCAGAAATTCCCAGCTTCTGGCTCAACCACCAG | GGCATCCAGATGGTGTGTGAG c.1620
G R P E I P S F W L N H Q | G I Q M V C E p.540
. . . . . . g.89999
ACGTTGACTGAGTGCTGGGACCACGACCCAGAGGCCCGTCTCACAGCCCAGTGTGTGGCA c.1680
T L T E C W D H D P E A R L T A Q C V A p.560
. . . . . . g.90059
GAACGCTTCAGTGAGCTGGAGCATCTGGACAGGCTCTCGGGGAGGAGCTGCTCGGAGGAG c.1740
E R F S E L E H L D R L S G R S C S E E p.580
. . . g.90098
AAGATTCCTGAAGACGGCTCCCTAAACACTACCAAATAG c.1779
K I P E D G S L N T T K X p.592
. . . . . . g.90158
ctcttctggggcaggctgggccatgtccaaagaggctgcccctctcaccaaagaacagag c.*60
. . . . . . g.90218
gcagcaggaagctgcccctgaactgatgcttcctggaaaaccaagggggtcactcccctc c.*120
. . . . . . g.90278
cctgtaagctgtggggataagcagaaacaacagcagcagggagtgggtgacatagagcat c.*180
. . . . . . g.90338
tctatgcctttgacattgtcataggataagctgtgttagcacttcctcaggaaatgagat c.*240
. . . . . . g.90398
tgatttttacaatagccaataacatttgcactttattaatgcctgtatataaatatgaat c.*300
. . . . . . g.90458
agctatgttttatatatatatatatatatctatatatgtctatagctctatatatatagc c.*360
. . . . . . g.90518
cataccttgaaaagagacaaggaaaaacatcaaatattcccaggaaattggttttattgg c.*420
. . . . . . g.90578
agaactccagaaccaagcagagaaggaagggacccatgacagcattagcatttgacaatc c.*480
. . . . . . g.90638
acacatgcagtggttctctgactgtaaaacagtgaactttgcatgaggaaagaggctcca c.*540
. . . . . . g.90698
tgtctcacagccagctatgaccacattgcacttgcttttgcaaaataatcattccctgcc c.*600
. . . . . . g.90758
tagcacttctcttctggccatggaactaagtacagtggcactgtttgaggaccagtgttc c.*660
. . . . . . g.90818
ccggggttcctgtgtgcccttatttctcctggacttttcatttaagctccaagccccaaa c.*720
. . . . . . g.90878
tctggggggctagtttagaaactctccctcaacctagtttagaaactctaccccatcttt c.*780
. . . . . . g.90938
aataccttgaatgttttgaaccccactttttaccttcatgggttgcagaaaaatcagaac c.*840
. . . . . . g.90998
agatgtccccatccatgcgattgccccaccatctactaatgaaaaattgttctttttttc c.*900
. . . . . . g.91058
atctttcccctgcacttatgttactattctctgctcccagccttcatccttttctaaaaa c.*960
. . . . . . g.91118
ggagcaaattctcactctaggctttatcgtgtttactttttcattacacttgacttgatt c.*1020
. . . . . . g.91178
ttctagttttctatacaaacaccaatgggttccatctttctgggctcctgattgctcaag c.*1080
. . . . . . g.91238
cacagtttggcctgatgaagaggatttcaactacacaatactatcattgtcaggactatg c.*1140
. . . . . . g.91298
acctcaggcactctaaacatatgttttgtttggtcagcacagcgtttcaaaaagtgaagc c.*1200
. . . . . . g.91358
cactttataaatatttggagattttgcaggaaaatctggatccccaggtaaggatagcag c.*1260
. . . . . . g.91418
atggttttcagttatctccagtccacgttcacaaaatgtgaaggtgtggagacacttaca c.*1320
. . . . . . g.91478
aagctgcctcacttctcactgtaaacattagctctttccactgcctacctggaccccagt c.*1380
. . . . . . g.91538
ctaggaattaaatctgcacctaaccaaggtcccttgtaagaaatgtccattcaagcagtc c.*1440
. . . . . . g.91598
attctctgggtatataatatgattttgactaccttatctggtgttaagatttgaagttgg c.*1500
. . . . . . g.91658
ccttttattggactaaaggggaactcctttaagggtctcagttagcccaagtttcttttg c.*1560
. . . . . . g.91718
cttatatgttaatagttttaccctctgcattggagagaggagtgctttactccaagaagc c.*1620
. . . . . . g.91778
tttcctcatggttaccgttctctccatcatgccagccttctcaacctttgcagaaattac c.*1680
. . . . . . g.91838
tagagaggatttgaatgtgggacacaaaggtcccatttgcagttagaaaatttgtgtcca c.*1740
. . . . . . g.91898
caaggacaagaacaaagtatgagctttaaaactccataggaaacttgttaatcaacaaag c.*1800
. . . . . . g.91958
aagtgttaatgctgcaagtaatctcttttttaaaactttttgaagctacttattttcagc c.*1860
. . . . . . g.92018
caaataggaatattagagagggactggtagtgagaatatcagctctgtttggatggtgga c.*1920
. . . . . . g.92078
aggtctcattttattgagatttttaagatacatgcaaaggtttggaaatagaacctctag c.*1980
. . . . . . g.92138
gcaccctcctcagtgtgggtgggctgagagttaaagacagtgtggctgcagtagcataga c.*2040
. . . . . . g.92198
ggcgcctagaaattccacttgcaccgtagggcatgctgataccatcccaatagctgttgc c.*2100
. . . . . . g.92258
ccattgacctctagtggtgagtttctagaatactggtccattcatgagatattcaagatt c.*2160
. . . . . . g.92318
caagagtattctcacttctgggttatcagcataaactggaatgtagtgtcagaggatact c.*2220
. . . . . . g.92378
gtggcttgttttgtttatgtttttttttcttattcaagaaaaaagaccaaggaataacat c.*2280
. . . . . . g.92438
tctgtagttcctaaaaatactgacttttttcactactatacataaagggaaagttttatt c.*2340
. . . . . . g.92498
cttttatggaacacttcagctgtactcatgtattaaaataggaatgtgaatgctatatac c.*2400
. . . . . . g.92558
tctttttatatcaaaagtctcaagcacttatttttattctatgcattgtttgtcttttac c.*2460
. . . . . . g.92618
ataaataaaatgtttattagattgaataaagcaaaatactcaggtgagcatcctgcctcc c.*2520
. . g.92641
tgttcccattcctagtagctaaa c.*2543
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 14
©2004-2015 Leiden University Medical Center