(used for variant description)
(last modified January 29, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_030756.4 in the TCF7L2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_012631.1, covering TCF7L2 transcript NM_030756.4.
(upstream sequence)
. . g.5027
aataatctccgctcccagactactccg c.-481
. . . . . . g.5087
ttcctccggatttcgatccccctttttctatctgtcaatcagcgccgcctttgaactgaa c.-421
. . . . . . g.5147
aagctctcagtctaacttcaactcactcaaatccgagcggcacgagcacctcctgtatct c.-361
. . . . . . g.5207
tcggcttccccccccctttgctctttatatctgacttcttgttgttgttggtgttttttt c.-301
. . . . . . g.5267
tttttttaccccccttttttatttattatttttttgcacattgatcggatccttgggaac c.-241
. . . . . . g.5327
gagagaaaaaagaaacccaaactcacgcgtgcagaagatctccccccccttcccctcccc c.-181
. . . . . . g.5387
tcctccctcttttcccctccccaggagaaaaagacccccaagcagaaaaaagttcacctt c.-121
. . . . . . g.5447
ggactcgtctttttcttgcaatattttttgggggggcaaaactttttgggggtgattttt c.-61
. . . . . . g.5507
tttggcttttcttcctccttcatttttcttccaaaattgctgctggtgggtgaaaaaaaa c.-1
. . . . . . g.5567
ATGCCGCAGCTGAACGGCGGTGGAGGGGATGACCTAGGCGCCAACGACGAACTGATTTCC c.60
M P Q L N G G G G D D L G A N D E L I S p.20
. . . . . . g.5627
TTCAAAGACGAGGGCGAACAGGAGGAGAAGAGCTCCGAAAACTCCTCGGCAGAGAGGGAT c.120
F K D E G E Q E E K S S E N S S A E R D p.40
. . . . . . g.5687
TTAGCTGATGTCAAATCGTCTCTAGTCAATGAATCAGAAACGAATCAAAACAGCTCCTCC c.180
L A D V K S S L V N E S E T N Q N S S S p.60
| 02 . . . . . g.6008
GATTCCGAG | GCGGAAAGACGGCCTCCGCCTCGCTCCGAAAGTTTCCGAGACAAATCCCGG c.240
D S E | A E R R P P P R S E S F R D K S R p.80
. | 03 . . . . . g.6277
GAAAGTTTGGAAGAAG | CGGCCAAGAGGCAAGATGGAGGGCTCTTTAAGGGGCCACCGTAT c.300
E S L E E A | A K R Q D G G L F K G P P Y p.100
. . . . . . g.6337
CCCGGCTACCCCTTCATCATGATCCCCGACCTGACGAGCCCCTACCTCCCCAACGGATCG c.360
P G Y P F I M I P D L T S P Y L P N G S p.120
. . | 04 . . . . g.94814
CTCTCGCCCACCGCCCGAACC | TATCTCCAGATGAAATGGCCACTGCTTGATGTCCAGGCA c.420
L S P T A R T | Y L Q M K W P L L D V Q A p.140
. . . . . . g.94874
GGGAGCCTCCAGAGTAGACAAGCCCTCAAGGATGCCCGGTCCCCATCACCGGCACACATT c.480
G S L Q S R Q A L K D A R S P S P A H I p.160
| 05 . . . . . . g.195991
GTC | TCTAACAAAGTGCCAGTGGTGCAGCACCCTCACCATGTCCACCCCCTCACGCCTCTT c.540
V | S N K V P V V Q H P H H V H P L T P L p.180
. . . . . . g.196051
ATCACGTACAGCAATGAACACTTCACGCCGGGAAACCCACCTCCACACTTACCAGCCGAC c.600
I T Y S N E H F T P G N P P P H L P A D p.200
. | 06 . . . . . g.198717
GTAGACCCCAAAACAG | GAATCCCACGGCCTCCGCACCCTCCAGATATATCCCCGTATTAC c.660
V D P K T G | I P R P P H P P D I S P Y Y p.220
. . . . . | 07 g.200762
CCACTATCGCCTGGCACCGTAGGACAAATCCCCCATCCGCTAGGATGGTTAGTACCACA | G c.720
P L S P G T V G Q I P H P L G W L V P Q | p.240
. . . . . . g.200822
CAAGGTCAACCAGTGTACCCAATCACGACAGGAGGATTCAGACACCCCTACCCCACAGCT c.780
Q G Q P V Y P I T T G G F R H P Y P T A p.260
. . | 08 . . . . g.205782
CTGACCGTCAATGCTTCCATGTCCAG | GTTCCCTCCCCATATGGTCCCACCACATCATACG c.840
L T V N A S M S R | F P P H M V P P H H T p.280
. . . . . . g.205842
CTACACACGACGGGCATTCCGCATCCGGCCATAGTCACACCAACAGTCAAACAGGAATCG c.900
L H T T G I P H P A I V T P T V K Q E S p.300
. . . | 09 . . . g.206503
TCCCAGAGTGATGTCGGCTCACTCCATAGTTC | AAAGCATCAGGACTCCAAAAAGGAAGAA c.960
S Q S D V G S L H S S | K H Q D S K K E E p.320
. . . . . . g.206563
GAAAAGAAGAAGCCCCACATAAAGAAACCTCTTAATGCATTCATGTTGTATATGAAGGAA c.1020
E K K K P H I K K P L N A F M L Y M K E p.340
. . . . . . g.206623
ATGAGAGCAAAGGTCGTAGCTGAGTGCACGTTGAAAGAAAGCGCGGCCATCAACCAGATC c.1080
M R A K V V A E C T L K E S A A I N Q I p.360
. | 10 . . . . . g.207131
CTTGGGCGGAGG | TGGCATGCACTGTCCAGAGAAGAGCAAGCGAAATACTACGAGCTGGCC c.1140
L G R R | W H A L S R E E Q A K Y Y E L A p.380
. . . . . . g.207191
CGGAAGGAGCGACAGCTTCATATGCAACTGTACCCCGGCTGGTCCGCGCGGGATAACTAT c.1200
R K E R Q L H M Q L Y P G W S A R D N Y p.400
| 11 . . . . | 12 . g.213428
| GGAAAGAAGAAGAAGAGGAAAAGGGACAAGCAGCCGGGAGAGACCAATG | AACACAGCGAA c.1260
| G K K K K R K R D K Q P G E T N E | H S E p.420
. . . . | 13 . . g.214690
TGTTTCCTAAATCCTTGCCTTTCACTTCCTCCGATTACAG | ACCTGAGCGCTCCTAAGAAA c.1320
C F L N P C L S L P P I T D | L S A P K K p.440
. . . . . | 14 . g.220312
TGCCGAGCGCGCTTTGGCCTTGATCAACAGAATAACTGGTGCGGCCCTTGCAG | GAGAAAA c.1380
C R A R F G L D Q Q N N W C G P C R | R K p.460
. . . . . . g.220372
AAAAAGTGCGTTCGCTACATACAAGGTGAAGGCAGCTGCCTCAGCCCACCCTCTTCAGAT c.1440
K K C V R Y I Q G E G S C L S P P S S D p.480
. . . . . . g.220432
GGAAGCTTACTAGATTCGCCTCCCCCCTCCCCGAACCTGCTAGGCTCCCCTCCCCGAGAC c.1500
G S L L D S P P P S P N L L G S P P R D p.500
. . . . . . g.220492
GCCAAGTCACAGACTGAGCAGACCCAGCCTCTGTCGCTGTCCCTGAAGCCCGACCCCCTG c.1560
A K S Q T E Q T Q P L S L S L K P D P L p.520
. . . . . . g.220552
GCCCACCTGTCCATGATGCCTCCGCCACCCGCCCTCCTGCTCGCTGAGGCCACCCACAAG c.1620
A H L S M M P P P P A L L L A E A T H K p.540
. . . . . . g.220612
GCCTCCGCCCTCTGTCCCAACGGGGCCCTGGACCTGCCCCCAGCCGCTTTGCAGCCTGCC c.1680
A S A L C P N G A L D L P P A A L Q P A p.560
. . . . . . g.220672
GCCCCCTCCTCATCAATTGCACAGCCGTCGACTTCTTCCTTACATTCCCACAGCTCCCTG c.1740
A P S S S I A Q P S T S S L H S H S S L p.580
. . . . . g.220723
GCCGGGACCCAGCCCCAGCCGCTGTCGCTCGTCACCAAGTCTTTAGAATAG c.1791
A G T Q P Q P L S L V T K S L E X p.596
. . . . . . g.220783
ctttagcgtcgtgaaccccgctgctttgtttatggttttgtttcacttttcttaatttgc c.*60
. . . . . . g.220843
cccccacccccaccttgaaaggttttgttttgtactctcttaattttgtgccatgtggct c.*120
. . . . . . g.220903
acattagttgatgtttatcgagttcattggtcaatatttgacccattcttatttcaattt c.*180
. . . . . . g.220963
ctccttttaaatatgtagatgagagaagaacctcatgattctaccaaaatttttatcaac c.*240
. . . . . . g.221023
agctgtttaaagtctttgtagcgtttaaaaaatatatatatatacataactgttatgtag c.*300
. . . . . . g.221083
ttcggatagcttagttttaaaagactgattaaaaaacaaaaagaaaaaaaaagcaatttt c.*360
. . . . . . g.221143
gaagcagccctccagaaggagttggttctgtattatttgtattaaatacgagcttgcgaa c.*420
. . . . . . g.221203
ccaatcattttacatctggtttttaaaccgtaagggcaccatgaatgcagtgccgttact c.*480
. . . . . . g.221263
ttttttttttttttctgtgtgaaacaactcttattgtgatgttacttgttattgtttaaa c.*540
. . . . . . g.221323
tgtacagaaacaaagggtaaaaatgtgttaatataccttgttccatggtgttgttctttt c.*600
. . . . . . g.221383
ggggggaggggacgctactcaacacttaatagaatcacaacgctgttgggccagtagtat c.*660
. . . . . . g.221443
ttattgctttagagattgcttgtcgtacctgtatgtcgtccctttttaaatatgttttcc c.*720
. . . . . . g.221503
tttttcttgaaactgtataaagtttttttcccccttagcataagcatcttatatataaca c.*780
. . . . . . g.221563
actcatttgtacaaggtttttaagtttatatataaaatgtgtatatatatttttgtttcc c.*840
. . . . . . g.221623
cctttttgacttttttttttctgtatgaaacccagatgtcaccaaatggacattaatagt c.*900
. . . . . . g.221683
tgcattaaggatcagtagcattaacaaaagttgctttaaaagccattatgtaaaacaaga c.*960
. . . . . . g.221743
cttgaaaatgagtgagggaattttagcgacactgtctgagcagcagtgggaaccatcttc c.*1020
. . . . . . g.221803
gtttcccctttgaactcccagtgggatgccctaccctgcgcccttaggacccggactgac c.*1080
. . . . . . g.221863
cgtgtacaaaactttacgtgccaaaattctcagtgaatttagctttctccctctttttga c.*1140
. . . . . . g.221923
tgctgtaatttttgttcatcatgttttgctgtgatgttacataggtagatttgtatgtag c.*1200
. . . . . . g.221983
ttttaatgtcacctataacaaaatgtgtttggtagcagattgtccagaaagcattttaaa c.*1260
. . . . . . g.222043
tgaagaggtataaacccttaagggccaaaattctgtatattagattactcttaaacgaaa c.*1320
. . . . . . g.222103
aaccagctgccgcttttatgtacacatattacatacgagtaggcagcagactttaaaaat c.*1380
. . . . . . g.222163
aaaaaaaacctaggcatgttgatgttgcaaaatgctgtataaagctgaaacctgttcatt c.*1440
. . . . . . g.222223
cagtgccattgtagttgacatgaagcgattgtaaaactgtctccgatttttctctggttt c.*1500
. . . . . . g.222283
attaaaatgctaactataacattttttgtgaatactttgaatgtttcctaacagttgtga c.*1560
. . . . . . g.222343
tgttactgttccgttttatgctcttattccaagttcatttttaatggtttggaagccatt c.*1620
. . . . . . g.222403
tttgtaatgaataaatgttcatgctgtacagtatctgtagcatgccgttctggattaata c.*1680
. . g.222429
aaagcaacttagtatgtgcagataaa c.*1706
(downstream sequence)
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