(used for variant description)
(last modified September 16, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_000141.4 in the FGFR2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_012449.1, covering FGFR2 transcript NM_000141.4.
(upstream sequence)
. . . . g.5047
ggcggcggctggaggagagcgcggtggagagccgagcgggcgggcgg c.-601
. . . . . . g.5107
cgggtgcggagcgggcgagggagcgcgcgcggccgccacaaagctcgggcgccgcggggc c.-541
. . . . . . g.5167
tgcatgcggcgtacctggcccggcgcggcgactgctctccgggctggcgggggccggccg c.-481
. . . . . . g.5227
cgagccccgggggccccgaggccgcagcttgcctgcgcgctctgagccttcgcaactcgc c.-421
. . . . . . g.5287
gagcaaagtttggtggaggcaacgccaagcctgagtcctttcttcctctcgttccccaaa c.-361
. . . . . . g.5347
tccgagggcagcccgcgggcgtcatgcccgcgctcctccgcagcctggggtacgcgtgaa c.-301
. . . . . . g.5407
gcccgggaggcttggcgccggcgaagacccaaggaccactcttctgcgtttggagttgct c.-241
. . . . . . g.5467
ccccgcaaccccgggctcgtcgctttctccatcccgacccacgcggggcgcggggacaac c.-181
. . . | 02 . . g.9521
acaggtcgcggaggagcgttgccattcaag | tgactgcagcagcagcggcagcgcctcggt c.-121
. . . . . . g.9581
tcctgagcccaccgcaggctgaaggcattgcgcgtagtccatgcccgtagaggaagtgtg c.-61
. . . . . . g.9641
cagatgggattaacgtccacatggagatatggaagaggaccggggattggtaccgtaacc c.-1
. . . . . . g.9701
ATGGTCAGCTGGGGTCGTTTCATCTGCCTGGTCGTGGTCACCATGGCAACCTTGTCCCTG c.60
M V S W G R F I C L V V V T M A T L S L p.20
. . . . | 03 . g.37765
GCCCGGCCCTCCTTCAGTTTAGTTGAGGATACCACATTAGAGCCAGAAG | AGCCACCAACC c.120
A R P S F S L V E D T T L E P E E | P P T p.40
. . . . . . g.37825
AAATACCAAATCTCTCAACCAGAAGTGTACGTGGCTGCGCCAGGGGAGTCGCTAGAGGTG c.180
K Y Q I S Q P E V Y V A A P G E S L E V p.60
. . . . . . g.37885
CGCTGCCTGTTGAAAGATGCCGCCGTGATCAGTTGGACTAAGGATGGGGTGCACTTGGGG c.240
R C L L K D A A V I S W T K D G V H L G p.80
. . . . . . g.37945
CCCAACAATAGGACAGTGCTTATTGGGGAGTACTTGCAGATAAAGGGCGCCACGCCTAGA c.300
P N N R T V L I G E Y L Q I K G A T P R p.100
. . . . . . g.38005
GACTCCGGCCTCTATGCTTGTACTGCCAGTAGGACTGTAGACAGTGAAACTTGGTACTTC c.360
D S G L Y A C T A S R T V D S E T W Y F p.120
. | 04 . . . . . g.38923
ATGGTGAATGTCACAG | ATGCCATCTCATCCGGAGATGATGAGGATGACACCGATGGTGCG c.420
M V N V T D | A I S S G D D E D D T D G A p.140
. . . | 05 . . . g.52025
GAAGATTTTGTCAGTGAGAACAGTAACAACAAGA | GAGCACCATACTGGACCAACACAGAA c.480
E D F V S E N S N N K R | A P Y W T N T E p.160
. . . . . . g.52085
AAGATGGAAAAGCGGCTCCATGCTGTGCCTGCGGCCAACACTGTCAAGTTTCGCTGCCCA c.540
K M E K R L H A V P A A N T V K F R C P p.180
. . . . . . g.52145
GCCGGGGGGAACCCAATGCCAACCATGCGGTGGCTGAAAAACGGGAAGGAGTTTAAGCAG c.600
A G G N P M P T M R W L K N G K E F K Q p.200
. . | 06 . . . . g.64779
GAGCATCGCATTGGAGGCTACAAG | GTACGAAACCAGCACTGGAGCCTCATTATGGAAAGT c.660
E H R I G G Y K | V R N Q H W S L I M E S p.220
. . . . . . g.64839
GTGGTCCCATCTGACAAGGGAAATTATACCTGTGTAGTGGAGAATGAATACGGGTCCATC c.720
V V P S D K G N Y T C V V E N E Y G S I p.240
. . | 07 . . . g.83321
AATCACACGTACCACCTGGATGTTGTGG | AGCGATCGCCTCACCGGCCCATCCTCCAAGCC c.780
N H T Y H L D V V E | R S P H R P I L Q A p.260
. . . . . . g.83381
GGACTGCCGGCAAATGCCTCCACAGTGGTCGGAGGAGACGTAGAGTTTGTCTGCAAGGTT c.840
G L P A N A S T V V G G D V E F V C K V p.280
. . . . . . g.83441
TACAGTGATGCCCAGCCCCACATCCAGTGGATCAAGCACGTGGAAAAGAACGGCAGTAAA c.900
Y S D A Q P H I Q W I K H V E K N G S K p.300
. . . | 08 . . g.86016
TACGGGCCCGACGGGCTGCCCTACCTCAAGGTTCTCAAG | GCCGCCGGTGTTAACACCACG c.960
Y G P D G L P Y L K V L K | A A G V N T T p.320
. . . . . . g.86076
GACAAAGAGATTGAGGTTCTCTATATTCGGAATGTAACTTTTGAGGACGCTGGGGAATAT c.1020
D K E I E V L Y I R N V T F E D A G E Y p.340
. . . . . . g.86136
ACGTGCTTGGCGGGTAATTCTATTGGGATATCCTTTCACTCTGCATGGTTGACAGTTCTG c.1080
T C L A G N S I G I S F H S A W L T V L p.360
| 09 . . . . . . g.88195
CCAG | CGCCTGGAAGAGAAAAGGAGATTACAGCTTCCCCAGACTACCTGGAGATAGCCATT c.1140
P A | P G R E K E I T A S P D Y L E I A I p.380
. . . . . . g.88255
TACTGCATAGGGGTCTTCTTAATCGCCTGTATGGTGGTAACAGTCATCCTGTGCCGAATG c.1200
Y C I G V F L I A C M V V T V I L C R M p.400
. . . . . . g.88315
AAGAACACGACCAAGAAGCCAGACTTCAGCAGCCAGCCGGCTGTGCACAAGCTGACCAAA c.1260
K N T T K K P D F S S Q P A V H K L T K p.420
. . | 10. . . . g.99550
CGTATCCCCCTGCGGAGACAGGTAACA | GTTTCGGCTGAGTCCAGCTCCTCCATGAACTCC c.1320
R I P L R R Q V T | V S A E S S S S M N S p.440
. . . . . . g.99610
AACACCCCGCTGGTGAGGATAACAACACGCCTCTCTTCAACGGCAGACACCCCCATGCTG c.1380
N T P L V R I T T R L S S T A D T P M L p.460
. . . . . | 11 g.102512
GCAGGGGTCTCCGAGTATGAACTTCCAGAGGACCCAAAATGGGAGTTTCCAAGAGATAA | G c.1440
A G V S E Y E L P E D P K W E F P R D K | p.480
. . . . . . g.102572
CTGACACTGGGCAAGCCCCTGGGAGAAGGTTGCTTTGGGCAAGTGGTCATGGCGGAAGCA c.1500
L T L G K P L G E G C F G Q V V M A E A p.500
. . . . . . g.102632
GTGGGAATTGACAAAGACAAGCCCAAGGAGGCGGTCACCGTGGCCGTGAAGATGTTGAAA c.1560
V G I D K D K P K E A V T V A V K M L K p.520
| 12 . . . . . . g.104912
G | ATGATGCCACAGAGAAAGACCTTTCTGATCTGGTGTCAGAGATGGAGATGATGAAGATG c.1620
D | D A T E K D L S D L V S E M E M M K M p.540
. . . . . | 13 . g.106744
ATTGGGAAACACAAGAATATCATAAATCTTCTTGGAGCCTGCACACAGGATG | GGCCTCTC c.1680
I G K H K N I I N L L G A C T Q D G | P L p.560
. . . . . . g.106804
TATGTCATAGTTGAGTATGCCTCTAAAGGCAACCTCCGAGAATACCTCCGAGCCCGGAGG c.1740
Y V I V E Y A S K G N L R E Y L R A R R p.580
. . . . . . g.106864
CCACCCGGGATGGAGTACTCCTATGACATTAACCGTGTTCCTGAGGAGCAGATGACCTTC c.1800
P P G M E Y S Y D I N R V P E E Q M T F p.600
. . . . . . g.106924
AAGGACTTGGTGTCATGCACCTACCAGCTGGCCAGAGGCATGGAGTACTTGGCTTCCCAA c.1860
K D L V S C T Y Q L A R G M E Y L A S Q p.620
| 14 . . . . . . g.115402
AAA | TGTATTCATCGAGATTTAGCAGCCAGAAATGTTTTGGTAACAGAAAACAATGTGATG c.1920
K | C I H R D L A A R N V L V T E N N V M p.640
. . . . . . g.115462
AAAATAGCAGACTTTGGACTCGCCAGAGATATCAACAATATAGACTATTACAAAAAGACC c.1980
K I A D F G L A R D I N N I D Y Y K K T p.660
| 15 . . . . . . g.116088
ACCAAT | GGGCGGCTTCCAGTCAAGTGGATGGCTCCAGAAGCCCTGTTTGATAGAGTATAC c.2040
T N | G R L P V K W M A P E A L F D R V Y p.680
. | 16. . . . . g.117969
ACTCATCAGAGTGATGT | CTGGTCCTTCGGGGTGTTAATGTGGGAGATCTTCACTTTAGGG c.2100
T H Q S D V | W S F G V L M W E I F T L G p.700
. . . . . . g.118029
GGCTCGCCCTACCCAGGGATTCCCGTGGAGGAACTTTTTAAGCTGCTGAAGGAAGGACAC c.2160
G S P Y P G I P V E E L F K L L K E G H p.720
. . . | 17 . . . g.119680
AGAATGGATAAGCCAGCCAACTGCACCAACGAACT | GTACATGATGATGAGGGACTGTTGG c.2220
R M D K P A N C T N E L | Y M M M R D C W p.740
. . . . . . g.119740
CATGCAGTGCCCTCCCAGAGACCAACGTTCAAGCAGTTGGTAGAAGACTTGGATCGAATT c.2280
H A V P S Q R P T F K Q L V E D L D R I p.760
. . | 18 . . . . g.123476
CTCACTCTCACAACCAATGAG | GAATACTTGGACCTCAGCCAACCTCTCGAACAGTATTCA c.2340
L T L T T N E | E Y L D L S Q P L E Q Y S p.780
. . . . . . g.123536
CCTAGTTACCCTGACACAAGAAGTTCTTGTTCTTCAGGAGATGATTCTGTTTTTTCTCCA c.2400
P S Y P D T R S S C S S G D D S V F S P p.800
. . . . . . g.123596
GACCCCATGCCTTACGAACCATGCCTTCCTCAGTATCCACACATAAACGGCAGTGTTAAA c.2460
D P M P Y E P C L P Q Y P H I N G S V K p.820
g.123602
ACATGA c.2466
T X p.821
. . . . . . g.123662
atgactgtgtctgcctgtccccaaacaggacagcactgggaacctagctacactgagcag c.*60
. . . . . . g.123722
ggagaccatgcctcccagagcttgttgtctccacttgtatatatggatcagaggagtaaa c.*120
. . . . . . g.123782
taattggaaaagtaatcagcatatgtgtaaagatttatacagttgaaaacttgtaatctt c.*180
. . . . . . g.123842
ccccaggaggagaagaaggtttctggagcagtggactgccacaagccaccatgtaacccc c.*240
. . . . . . g.123902
tctcacctgccgtgcgtactggctgtggaccagtaggactcaaggtggacgtgcgttctg c.*300
. . . . . . g.123962
ccttccttgttaattttgtaataattggagaagatttatgtcagcacacacttacagagc c.*360
. . . . . . g.124022
acaaatgcagtatataggtgctggatgtatgtaaatatattcaaattatgtataaatata c.*420
. . . . . . g.124082
tattatatatttacaaggagttattttttgtattgattttaaatggatgtcccaatgcac c.*480
. . . . . . g.124142
ctagaaaattggtctctctttttttaatagctatttgctaaatgctgttcttacacataa c.*540
. . . . . . g.124202
tttcttaattttcaccgagcagaggtggaaaaatacttttgctttcagggaaaatggtat c.*600
. . . . . . g.124262
aacgttaatttattaataaattggtaatatacaaaacaattaatcatttatagttttttt c.*660
. . . . . . g.124322
tgtaatttaagtggcatttctatgcaggcagcacagcagactagttaatctattgcttgg c.*720
. . . . . . g.124382
acttaactagttatcagatcctttgaaaagagaatatttacaatatatgactaatttggg c.*780
. . . . . . g.124442
gaaaatgaagttttgatttatttgtgtttaaatgctgctgtcagacgattgttcttagac c.*840
. . . . . . g.124502
ctcctaaatgccccatattaaaagaactcattcataggaaggtgtttcattttggtgtgc c.*900
. . . . . . g.124562
aaccctgtcattacgtcaacgcaacgtctaactggacttcccaagataaatggtaccagc c.*960
. . . . . . g.124622
gtcctcttaaaagatgccttaatccattccttgaggacagaccttagttgaaatgatagc c.*1020
. . . . . . g.124682
agaatgtgcttctctctggcagctggccttctgcttctgagttgcacattaatcagatta c.*1080
. . . . . . g.124742
gcctgtattctcttcagtgaattttgataatggcttccagactctttggcgttggagacg c.*1140
. . . . . . g.124802
cctgttaggatcttcaagtcccatcatagaaaattgaaacacagagttgttctgctgata c.*1200
. . . . . . g.124862
gttttggggatacgtccatctttttaagggattgctttcatctaattctggcaggacctc c.*1260
. . . . . . g.124922
accaaaagatccagcctcatacctacatcagacaaaatatcgccgttgttccttctgtac c.*1320
. . . . . . g.124982
taaagtattgtgttttgctttggaaacacccactcactttgcaatagccgtgcaagatga c.*1380
. . . . . . g.125042
atgcagattacactgatcttatgtgttacaaaattggagaaagtatttaataaaacctgt c.*1440
. . . . . . g.125102
taatttttatactgacaataaaaatgtttctacagatattaatgttaacaagacaaaata c.*1500
. . g.125129
aatgtcacgcaacttatttttttaata c.*1527
(downstream sequence)
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