(used for variant description)
(last modified July 28, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_000506.3 in the F2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008953.1, covering F2 transcript NM_000506.3.
(upstream sequence)
. . . . g.5043
gtcaggacagacaattcctcagtgacccaggagctgacacact c.-1
. . . . . . g.5103
ATGGCGCACGTCCGAGGCTTGCAGCTGCCTGGCTGCCTGGCCCTGGCTGCCCTGTGTAGC c.60
M A H V R G L Q L P G C L A L A A L C S p.20
. | 02 . . . . g.5550
CTTGTGCACAGCCAGCATG | TGTTCCTGGCTCCTCAGCAAGCACGGTCGCTGCTCCAGCGG c.120
L V H S Q H V | F L A P Q Q A R S L L Q R p.40
. . . . . . g.5610
GTCCGGCGAGCCAACACCTTCTTGGAGGAGGTGCGCAAGGGCAACCTGGAGCGAGAGTGC c.180
V R R A N T F L E E V R K G N L E R E C p.60
. . . . . . g.5670
GTGGAGGAGACGTGCAGCTACGAGGAGGCCTTCGAGGCTCTGGAGTCCTCCACGGCTACG c.240
V E E T C S Y E E A F E A L E S S T A T p.80
| 03 . . | 04 . . . . g.6632
| GATGTGTTCTGGGCCAAGTACACAG | CTTGTGAGACAGCGAGGACGCCTCGAGATAAGCTT c.300
| D V F W A K Y T A | C E T A R T P R D K L p.100
. | 05 . . . . . g.9031
GCTGCATGTCTGGAAG | GTAACTGTGCTGAGGGTCTGGGTACGAACTACCGAGGGCATGTG c.360
A A C L E G | N C A E G L G T N Y R G H V p.120
. . . . . . g.9091
AACATCACCCGGTCAGGCATTGAGTGCCAGCTATGGAGGAGTCGCTACCCACATAAGCCT c.420
N I T R S G I E C Q L W R S R Y P H K P p.140
| 06 . . . . . . g.9247
GA | AATCAACTCCACTACCCATCCTGGGGCCGACCTACAGGAGAATTTCTGCCGCAACCCC c.480
E | I N S T T H P G A D L Q E N F C R N P p.160
. . . . . . g.9307
GACAGCAGCACCACGGGACCCTGGTGCTACACTACAGACCCCACCGTGAGGAGGCAGGAA c.540
D S S T T G P W C Y T T D P T V R R Q E p.180
. | 07 . . . . g.11707
TGCAGCATCCCTGTCTGTG | GCCAGGATCAAGTCACTGTAGCGATGACTCCACGCTCCGAA c.600
C S I P V C G | Q D Q V T V A M T P R S E p.200
. . . . . . g.11767
GGCTCCAGTGTGAATCTGTCACCTCCATTGGAGCAGTGTGTCCCTGATCGGGGGCAGCAG c.660
G S S V N L S P P L E Q C V P D R G Q Q p.220
. . . . . . g.11827
TACCAGGGGCGCCTGGCGGTGACCACACATGGGCTCCCCTGCCTGGCCTGGGCCAGCGCA c.720
Y Q G R L A V T T H G L P C L A W A S A p.240
. . . . . . g.11887
CAGGCCAAGGCCCTGAGCAAGCACCAGGACTTCAACTCAGCTGTGCAGCTGGTGGAGAAC c.780
Q A K A L S K H Q D F N S A V Q L V E N p.260
. . . . . . g.11947
TTCTGCCGCAACCCAGACGGGGATGAGGAGGGCGTGTGGTGCTATGTGGCCGGGAAGCCT c.840
F C R N P D G D E E G V W C Y V A G K P p.280
. . . | 08 . . . g.12331
GGCGACTTTGGGTACTGCGACCTCAACTATTGTG | AGGAGGCCGTGGAGGAGGAGACAGGA c.900
G D F G Y C D L N Y C E | E A V E E E T G p.300
. . . . . . g.12391
GATGGGCTGGATGAGGACTCAGACAGGGCCATCGAAGGGCGTACCGCCACCAGTGAGTAC c.960
D G L D E D S D R A I E G R T A T S E Y p.320
. . . . | 09 . . g.12535
CAGACTTTCTTCAATCCGAGGACCTTTGGCTCGGGAGAGGCAG | ACTGTGGGCTGCGACCT c.1020
Q T F F N P R T F G S G E A D | C G L R P p.340
. . . . . . g.12595
CTGTTCGAGAAGAAGTCGCTGGAGGACAAAACCGAAAGAGAGCTCCTGGAATCCTACATC c.1080
L F E K K S L E D K T E R E L L E S Y I p.360
. . . . . | 10 . g.13813
GACGGGCGCATTGTGGAGGGCTCGGATGCAGAGATCGGCATGTCACCTTG | GCAGGTGATG c.1140
D G R I V E G S D A E I G M S P W | Q V M p.380
. . . . . . g.13873
CTTTTCCGGAAGAGTCCCCAGGAGCTGCTGTGTGGGGCCAGCCTCATCAGTGACCGCTGG c.1200
L F R K S P Q E L L C G A S L I S D R W p.400
. . . . . . g.13933
GTCCTCACCGCCGCCCACTGCCTCCTGTACCCGCCCTGGGACAAGAACTTCACCGAGAAT c.1260
V L T A A H C L L Y P P W D K N F T E N p.420
. . . | 11 . . g.14493
GACCTTCTGGTGCGCATTGGCAAGCACTCCCGCACCAG | GTACGAGCGAAACATTGAAAAG c.1320
D L L V R I G K H S R T R | Y E R N I E K p.440
. . . . . . g.14553
ATATCCATGTTGGAAAAGATCTACATCCACCCCAGGTACAACTGGCGGGAGAACCTGGAC c.1380
I S M L E K I Y I H P R Y N W R E N L D p.460
. . . . . . g.14613
CGGGACATTGCCCTGATGAAGCTGAAGAAGCCTGTTGCCTTCAGTGACTACATTCACCCT c.1440
R D I A L M K L K K P V A F S D Y I H P p.480
. . . | 12 . . . g.15215
GTGTGTCTGCCCGACAGGGAGACGGCAGCCAG | CTTGCTCCAGGCTGGATACAAGGGGCGG c.1500
V C L P D R E T A A S | L L Q A G Y K G R p.500
. . . . . . g.15275
GTGACAGGCTGGGGCAACCTGAAGGAGACGTGGACAGCCAACGTTGGTAAGGGGCAGCCC c.1560
V T G W G N L K E T W T A N V G K G Q P p.520
. . . . . . g.15335
AGTGTCCTGCAGGTGGTGAACCTGCCCATTGTGGAGCGGCCGGTCTGCAAGGACTCCACC c.1620
S V L Q V V N L P I V E R P V C K D S T p.540
. . . | 13 . . . g.24881
CGGATCCGCATCACTGACAACATGTTCTGTGCTG | GTTACAAGCCTGATGAAGGGAAACGA c.1680
R I R I T D N M F C A G | Y K P D E G K R p.560
. . . . | 14 . . g.25087
GGGGATGCCTGTGAAGGTGACAGTGGGGGACCCTTTGTCATGAAG | AGCCCCTTTAACAAC c.1740
G D A C E G D S G G P F V M K | S P F N N p.580
. . . . . . g.25147
CGCTGGTATCAAATGGGCATCGTCTCATGGGGTGAAGGCTGTGACCGGGATGGGAAATAT c.1800
R W Y Q M G I V S W G E G C D R D G K Y p.600
. . . . . . g.25207
GGCTTCTACACACATGTGTTCCGCCTGAAGAAGTGGATACAGAAGGTCATTGATCAGTTT c.1860
G F Y T H V F R L K K W I Q K V I D Q F p.620
g.25216
GGAGAGTAG c.1869
G E X p.622
. . . . . . g.25276
ggggccactcatattctgggctcctggaaccaatcccgtgaaagaattatttttgtgttt c.*60
. . . g.25314
ctaaaactatggttcccaataaaagtgactctcagcga c.*98
(downstream sequence)
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