(used for variant description)
(last modified April 16, 2021)
This file was created to facilitate the description of sequence variants on transcript NM_020066.4 in the FMN2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000001.10, covering FMN2 transcript NM_020066.4.
(upstream sequence)
. . . . g.5045
agccgcagccgcagcgacggcagccacgggagccgccgcgcatta c.-181
. . . . . . g.5105
tgcaaagcggcggcagatgcgagcggggccagccgggcgcgcgtcggcctcccctcccag c.-121
. . . . . . g.5165
cggctccccccgccgccgcctgactctcccgggagactccctaggcccggacctggggcc c.-61
. . . . . . g.5225
gaggagggccgggatggcctgagtgcccgcggcgcggcggcgcagcagcgggattgcacc c.-1
. . . . . . g.5285
ATGGGGAACCAGGATGGGAAGCTGAAGAGGAGCGCAGGTGATGCTTTGCACGAAGGCGGC c.60
M G N Q D G K L K R S A G D A L H E G G p.20
. . . . . . g.5345
GGTGGCGCCGAGGATGCGCTGGGGCCCAGGGATGTGGAAGCCACAAAGAAGGGGAGCGGG c.120
G G A E D A L G P R D V E A T K K G S G p.40
. . . . . . g.5405
GGCAAGAAGGCGCTAGGCAAGCACGGCAAGGGGGGAGGGGGCGGCGGCGGCGGCGGGGAG c.180
G K K A L G K H G K G G G G G G G G G E p.60
. . . . . . g.5465
TCGGGCAAGAAGAAGAGCAAGTCCGACTCCAGAGCCTCGGTGTTTTCCAACCTGCGGATC c.240
S G K K K S K S D S R A S V F S N L R I p.80
. . . . . . g.5525
AGGAAGAATCTGTCCAAGGGGAAAGGCGCCGGCGGCTCCCGCGAAGATGTACTGGATTCC c.300
R K N L S K G K G A G G S R E D V L D S p.100
. . . . . . g.5585
CAGGCCCTGCAGACCGGGGAGCTGGACAGCGCTCACTCCCTGCTCACCAAGACTCCAGAC c.360
Q A L Q T G E L D S A H S L L T K T P D p.120
. . . . . . g.5645
CTCAGCCTCTCGGCGGACGAGGCCGGCCTGTCGGATACCGAGTGTGCGGACCCTTTTGAG c.420
L S L S A D E A G L S D T E C A D P F E p.140
. . . . . . g.5705
GTGACCGGTCCAGGGGGTCCTGGGCCTGCCGAGGCTAGGGTCGGGGGCCGGCCGATCGCC c.480
V T G P G G P G P A E A R V G G R P I A p.160
. . . . . . g.5765
GAGGATGTGGAAACTGCAGCAGGGGCGCAGGATGGACAAAGGACCAGCTCGGGCTCGGAC c.540
E D V E T A A G A Q D G Q R T S S G S D p.180
. . . . . . g.5825
ACGGACATCTATAGCTTCCATTCGGCTACGGAGCAAGAGGATTTGCTTTCAGACATCCAG c.600
T D I Y S F H S A T E Q E D L L S D I Q p.200
. . . . . . g.5885
CAGGCGATCCGCCTGCAGCAGCAGCAGCAGCAGCAGCTCCAGCTCCAGCTCCAGCAACAG c.660
Q A I R L Q Q Q Q Q Q Q L Q L Q L Q Q Q p.220
. . . . . . g.5945
CAGCAGCAGCAGCAGCTCCAGGGCGCCGAGGAGCCTGCAGCGCCCCCCACTGCCGTCTCC c.720
Q Q Q Q Q L Q G A E E P A A P P T A V S p.240
. . . . . . g.6005
CCTCAGCCCGGGGCCTTCCTGGGCCTGGACCGGTTCCTGCTGGGGCCGAGCGGCGGGGCT c.780
P Q P G A F L G L D R F L L G P S G G A p.260
. . . . . . g.6065
GGGGAGGCCCCGGGCAGTCCGGACACCGAGCAGGCGCTGTCCGCGCTCTCCGACCTGCCC c.840
G E A P G S P D T E Q A L S A L S D L P p.280
. . . . . . g.6125
GAGAGCCTGGCCGCCGAGCCCCGGGAGCCCCAGCAACCGCCGTCCCCCGGCGGCCTCCCG c.900
E S L A A E P R E P Q Q P P S P G G L P p.300
. . . . . . g.6185
GTCTCCGAGGCGCCCAGTCTCCCGGCAGCGCAACCCGCGGCCAAAGACTCGCCCTCCTCC c.960
V S E A P S L P A A Q P A A K D S P S S p.320
. . . . . . g.6245
ACGGCTTTCCCATTTCCCGAGGCCGGGCCGGGGGAGGAAGCGGCCGGAGCCCCCGTGCGA c.1020
T A F P F P E A G P G E E A A G A P V R p.340
. . . . . . g.6305
GGGGCTGGGGACACGGATGAGGAGGGTGAGGAGGATGCTTTTGAGGATGCGCCCCGGGGC c.1080
G A G D T D E E G E E D A F E D A P R G p.360
. . . . . . g.6365
TCTCCGGGGGAGGAGTGGGCCCCGGAGGTGGGAGAGGACGCCCCGCAGAGGCTGGGGGAA c.1140
S P G E E W A P E V G E D A P Q R L G E p.380
. . . . . . g.6425
GAGCCGGAGGAGGAGGCGCAAGGACCTGACGCCCCCGCGGCCGCTTCCCTGCCCGGCAGC c.1200
E P E E E A Q G P D A P A A A S L P G S p.400
. . . . . . g.6485
CCCGCGCCTAGCCAGCGCTGTTTCAAGCCCTACCCGCTCATCACCCCCTGCTACATCAAG c.1260
P A P S Q R C F K P Y P L I T P C Y I K p.420
. . . . . . g.6545
ACCACCACCCGGCAGCTCAGCTCGCCCAATCACTCCCCGTCTCAGTCCCCTAATCAGAGC c.1320
T T T R Q L S S P N H S P S Q S P N Q S p.440
. . . . . . g.6605
CCCAGGATCAAGAGGCGGCCGGAACCCTCCCTGAGCCGAGGGTCCAGAACTGCCCTGGCC c.1380
P R I K R R P E P S L S R G S R T A L A p.460
. . . . . . g.6665
TCCGTAGCCGCCCCGGCCAAGAAGCACCGGGCCGACGGCGGCCTTGCGGCCGGCCTGAGC c.1440
S V A A P A K K H R A D G G L A A G L S p.480
. . . . . . g.6725
CGCTCGGCTGACTGGACGGAGGAGCTAGGCGCCCGCACGCCCCGGGTGGGAGGCTCCGCG c.1500
R S A D W T E E L G A R T P R V G G S A p.500
. . . . . . g.6785
CACCTGCTGGAGCGCGGGGTGGCGAGTGACAGCGGCGGTGGGGTGTCCCCAGCACTGGCC c.1560
H L L E R G V A S D S G G G V S P A L A p.520
. . . . . | 02 . g.36299
GCCAAGGCGTCTGGGGCCCCCGCGGCTGCGGATGGCTTCCAGAACGTGTTCACAG | GGCGA c.1620
A K A S G A P A A A D G F Q N V F T G | R p.540
. . . . . . g.36359
ACGCTGTTGGAGAAGCTGTTCAGCCAGCAGGAGAACGGGCCTCCAGAAGAAGCAGAGAAG c.1680
T L L E K L F S Q Q E N G P P E E A E K p.560
. . . . . . g.36419
TTTTGCTCCCGGATCATTGCCATGGGTCTTCTCCTTCCTTTTAGTGATTGCTTCAGGGAA c.1740
F C S R I I A M G L L L P F S D C F R E p.580
. . . . | 03 . . g.91054
CCGTGTAATCAGAATGCCCAGACGAATGCAGCTTCGTTTGAT | CAAGATCAACTTTATACC c.1800
P C N Q N A Q T N A A S F D | Q D Q L Y T p.600
. . . . . . g.91114
TGGGCTGCAGTTAGTCAACCCACACACTCATTGGACTATTCAGAAGGGCAGTTTCCTAGG c.1860
W A A V S Q P T H S L D Y S E G Q F P R p.620
. . . . . . g.91174
CGAGTTCCATCCATGGGGCCACCATCCAAACCTCCCGATGAGGAACACAGGCTCGAGGAT c.1920
R V P S M G P P S K P P D E E H R L E D p.640
. | 04 . . . . . g.101372
GCTGAAACAG | AATCTCAATCTGCTGTTTCAGAAACTCCCCAAAAACGCTCAGATGCTGTC c.1980
A E T E | S Q S A V S E T P Q K R S D A V p.660
| 05 . . . . . . g.119968
CAGAAG | GAAGTTGTTGACATGAAGTCTGAGGGACAGGCCACTGTAATTCAGCAGCTGGAA c.2040
Q K | E V V D M K S E G Q A T V I Q Q L E p.680
. . . . . . g.120028
CAGACTATTGAGGATCTGAGAACCAAAATAGCTGAACTAGAGAGGCAGTATCCTGCCCTG c.2100
Q T I E D L R T K I A E L E R Q Y P A L p.700
. . . . . . g.120088
GACACAGAGGTGGCCAGTGGTCATCAAGGGCTTGAGAATGGAGTGACAGCCTCAGGCGAT c.2160
D T E V A S G H Q G L E N G V T A S G D p.720
. . . . . . g.120148
GTCTGTCTCGAAGCTCTCAGGTTAGAAGAAAAGGAAGTACGGCATCATAGGATTTTAGAG c.2220
V C L E A L R L E E K E V R H H R I L E p.740
. . . . . . g.120208
GCGAAATCGATACAGACTTCCCCCACGGAAGAGGGCGGGGTGCTGACACTGCCTCCTGTG c.2280
A K S I Q T S P T E E G G V L T L P P V p.760
. . . . . . g.120268
GATGGGCTGCCAGGGCGTCCTCCATGCCCCCCTGGGGCTGAAAGTGGACCTCAGACAAAG c.2340
D G L P G R P P C P P G A E S G P Q T K p.780
. . . . . . g.120328
TTCTGTTCAGAGATTTCTTTGATTGTGTCTCCAAGGCGAATATCAGTCCAGCTCGACAGC c.2400
F C S E I S L I V S P R R I S V Q L D S p.800
. . . . . . g.120388
CATCAGCCCACACAGAGCATCTCACAGCCTCCACCACCTCCATCCCTTCTGTGGTCTGCT c.2460
H Q P T Q S I S Q P P P P P S L L W S A p.820
. . . . . . g.120448
GGGCAAGGACAGCCTGGGTCACAGCCGCCCCATTCTATTTCTACCGAGTTTCAAACCAGC c.2520
G Q G Q P G S Q P P H S I S T E F Q T S p.840
. . . . . . g.120508
CACGAACACTCTGTTTCCTCTGCCTTTAAAAACAGCTGTAACATCCCATCTCCACCACCT c.2580
H E H S V S S A F K N S C N I P S P P P p.860
. . . . . . g.120568
CTGCCTTGCACAGAGTCCTCCAGCTCCATGCCTGGCCTGGGCATGGTGCCTCCCCCACCT c.2640
L P C T E S S S S M P G L G M V P P P P p.880
. . . . . . g.120628
CCCCCTCTCCCTGGCATGACAGTGCCTACTCTGCCCAGTACAGCCATTCCCCAACCTCCT c.2700
P P L P G M T V P T L P S T A I P Q P P p.900
. . . . . . g.120688
CCTCTGCAGGGTACAGAAATGCTGCCACCCCCTCCCCCTCCTCTTCCCGGAGCGGGCATA c.2760
P L Q G T E M L P P P P P P L P G A G I p.920
. . . . . . g.120748
CCTCCTCCGCCGCCTCTACCCGGAGCAGGCATACTCCCTCTGCCCCCTCTACCCGGAGCG c.2820
P P P P P L P G A G I L P L P P L P G A p.940
. . . . . . g.120808
GGAATACCTCCTCCGCCCCCTCTACCCGGAGCGGCAATACCCCCTCCGCCCCCTCTTCCC c.2880
G I P P P P P L P G A A I P P P P P L P p.960
. . . . . . g.120868
GGGGCAGGCATACCCCTTCCTCCCCCTCTTCCCGGAGCAGGAATACCTCCTCCACCCCCT c.2940
G A G I P L P P P L P G A G I P P P P P p.980
. . . . . . g.120928
CTACCCGGAGCGGGCATACCCCCTCCTCCCCCACTTCCCGGAGCGGGCATACCCCCTCCG c.3000
L P G A G I P P P P P L P G A G I P P P p.1000
. . . . . . g.120988
CCCCCACTTCCCGGAGCGGGCATACCCCCTCCTCCCCCTCTTCCCGGAGCGGGCATACCT c.3060
P P L P G A G I P P P P P L P G A G I P p.1020
. . . . . . g.121048
CCTCCACCCCCTCTACCCGGAGCGGGCATACCCCCTCCGCCCCCACTTCCCGGAGCGGGC c.3120
P P P P L P G A G I P P P P P L P G A G p.1040
. . . . . . g.121108
ATACCCCCTCCGCCCCCACTTCCCGGAGCGGGCATACCCCCTCCTCCCCCTCTTCCCGGA c.3180
I P P P P P L P G A G I P P P P P L P G p.1060
. . . . . . g.121168
GCGGGCATACCTCCTCCACCCCCTCTACCCGGAGCGGGCATACCCCCTCCGCCCCCACTT c.3240
A G I P P P P P L P G A G I P P P P P L p.1080
. . . . . . g.121228
CCCGGAGCGGGCATACCCCCACCTCCCCCTCTACCCGGAGCGGGCATACCCCCTCCGCCC c.3300
P G A G I P P P P P L P G A G I P P P P p.1100
. . . . . . g.121288
CCTCTACCCGGAGTGGGCATACCTCCTCCGCCCCCTCTACCCGGAGCGGGCATACCCCCT c.3360
P L P G V G I P P P P P L P G A G I P P p.1120
. . . . . . g.121348
CCTCCCCCTCTACCCGGAGCGGGCATACCCCCTCCTCCCCCTCTTCCCGGAGCGGGCATA c.3420
P P P L P G A G I P P P P P L P G A G I p.1140
. . . . . . g.121408
CCTCCTCCACCCCCTCTACCCAGAGTGGGCATACCCCCTCCGCCCCCACTTCCCGGAGCG c.3480
P P P P P L P R V G I P P P P P L P G A p.1160
. . . . . . g.121468
GGCATACCCCCACCTCCCCCTCTACCCGGAGCGGGCATACCCCCTCCGCCCCCTCTACCT c.3540
G I P P P P P L P G A G I P P P P P L P p.1180
. . . . . . g.121528
GGAGTGGGAATACCTCCTCCGCCCCCTCTACCTGGAGTGGGAATACCTCCTCCGCCCCCT c.3600
G V G I P P P P P L P G V G I P P P P P p.1200
. . . . . . g.121588
CTACCTGGTGCTGGGATTCCCCCACCTCCTCCCTTGCCAGGTATGGGGATTCCACCTGCT c.3660
L P G A G I P P P P P L P G M G I P P A p.1220
. . . . . . g.121648
CCAGCTCCCCCACTCCCTCCACCTGGGACAGGAATCCCACCGCCCCCTCTGCTTCCTGTA c.3720
P A P P L P P P G T G I P P P P L L P V p.1240
. . . . . . g.121708
TCAGGCCCTCCACTCCTCCCACAAGTTGGGAGTAGCACTTTACCAACCCCACAGGTGTGT c.3780
S G P P L L P Q V G S S T L P T P Q V C p.1260
. . . . . . g.121768
GGATTTCTTCCTCCTCCATTGCCAAGTGGCTTGTTTGGATTAGGGATGAATCAGGACAAA c.3840
G F L P P P L P S G L F G L G M N Q D K p.1280
. . . . . . g.121828
GGGAGTAGGAAGCAGCCCATAGAGCCTTGTCGACCAATGAAGCCTCTTTACTGGACCAGG c.3900
G S R K Q P I E P C R P M K P L Y W T R p.1300
. . | 06 . . . . g.124246
ATTCAACTACATAGTAAAAG | AGACTCCAGTACTTCACTTATTTGGGAAAAAATTGAAGAG c.3960
I Q L H S K R | D S S T S L I W E K I E E p.1320
. . . . . . g.124306
CCATCCATAGATTGTCATGAATTTGAGGAATTATTTTCTAAAACTGCTGTAAAGGAGAGA c.4020
P S I D C H E F E E L F S K T A V K E R p.1340
. . . . | 07 . . g.171075
AAGAAACCTATCTCTGATACTATCTCAAAGACGAAGGCTAAACAA | GTTGTCAAGTTATTA c.4080
K K P I S D T I S K T K A K Q | V V K L L p.1360
. . . . . . g.171135
AGCAACAAAAGATCACAAGCAGTTGGAATACTAATGTCTAGCCTTCATTTAGATATGAAA c.4140
S N K R S Q A V G I L M S S L H L D M K p.1380
. | 08 . . . . . g.207984
GACATACAACATG | CTGTTGTGAACTTGGATAATTCTGTGGTTGACCTGGAGACCCTTCAA c.4200
D I Q H A | V V N L D N S V V D L E T L Q p.1400
. | 09 . . . . . g.242236
GCTCTCTATGAGAAT | AGAGCACAGTCAGACGAACTCGAAAAAATAGAAAAGCATGGCCGA c.4260
A L Y E N | R A Q S D E L E K I E K H G R p.1420
. . . . | 10. . g.242467
TCTTCCAAAGACAAGGAAAATGCCAAGTCTCTGGACAAACCTGAACA | GTTCCTTTATGAA c.4320
S S K D K E N A K S L D K P E Q | F L Y E p.1440
. . . . . . g.242527
CTGTCACTAATCCCCAACTTTTCAGAGCGAGTCTTTTGCATCCTGTTCCAGTCCACATTT c.4380
L S L I P N F S E R V F C I L F Q S T F p.1460
. . . . . | 11. g.243721
TCAGAAAGCATTTGCTCAATTCGTCGCAAACTGGAATTACTACAGAAATTGTGTGAG | ACA c.4440
S E S I C S I R R K L E L L Q K L C E | T p.1480
. . . . . . g.243781
TTAAAAAATGGCCCAGGGGTTATGCAGGTTCTAGGTTTGGTTCTTGCCTTTGGCAACTAC c.4500
L K N G P G V M Q V L G L V L A F G N Y p.1500
. . . . . . g.243841
ATGAATGGAGGAAATAAGACTCGAGGACAGGCAGATGGCTTTGGATTAGACATTCTTCCA c.4560
M N G G N K T R G Q A D G F G L D I L P p.1520
. . | 12 . . . . g.247038
AAACTGAAAGATGTCAAGAGCAGT | GACAATAGCAGAAGCCTTTTGTCATATATTGTTTCG c.4620
K L K D V K S S | D N S R S L L S Y I V S p.1540
. . | 13 . . . . g.247260
TATTATCTCCGAAATTTTGATGAG | GATGCTGGAAAAGAACAGTGCCTCTTTCCACTGCCA c.4680
Y Y L R N F D E | D A G K E Q C L F P L P p.1560
. . . . . . g.247320
GAACCCCAGGACCTTTTTCAGGCCTCACAGATGAAGTTTGAAGATTTTCAAAAAGATCTC c.4740
E P Q D L F Q A S Q M K F E D F Q K D L p.1580
. . | 14 . . . . g.268966
AGAAAACTGAAGAAAGACTTGAAAG | CCTGTGAAGTTGAAGCAGGGAAAGTATACCAGGTC c.4800
R K L K K D L K A | C E V E A G K V Y Q V p.1600
. . . . . | 15 g.305628
TCCTCAAAAGAGCATATGCAGCCTTTCAAGGAAAACATGGAACAATTTATTATTCAAG | CC c.4860
S S K E H M Q P F K E N M E Q F I I Q A | p.1620
. . . . . | 16 . g.351186
AAAATTGACCAAGAGGCAGAGGAAAATTCACTGACAGAGACTCATAAATG | CTTTTTGGAG c.4920
K I D Q E A E E N S L T E T H K C | F L E p.1640
. . . . . . g.351246
ACCACGGCATATTTCTTCATGAAACCAAAACTTGGAGAGAAGGAGGTGTCCCCAAATGCT c.4980
T T A Y F F M K P K L G E K E V S P N A p.1660
. . . . . . g.351306
TTCTTCAGTATCTGGCATGAATTCAGCTCTGACTTTAAAGACTTCTGGAAGAAAGAGAAC c.5040
F F S I W H E F S S D F K D F W K K E N p.1680
. . | 17 . . . . g.385527
AAACTTCTTCTACAAGAGAG | AGTAAAAGAAGCCGAAGAGGTGTGTAGACAGAAGAAAGGA c.5100
K L L L Q E R | V K E A E E V C R Q K K G p.1700
. . . . | 18 . . g.387261
AAATCACTTTATAAAATAAAACCAAGACATGACTCTGGAATT | AAAGCAAAGATAAGCATG c.5160
K S L Y K I K P R H D S G I | K A K I S M p.1720
g.387270
AAAACTTGA c.5169
K T X p.1722
. . . . . . g.387330
acaatgaaaagcagaatgaaaatgagtcattgcaacgactttcacaaaattcagctgacc c.*60
. . . . . . g.387390
tgagagtgggagggaaactaccgtcattctgctcatgtttcttcttgacctcttgcataa c.*120
. . . . . . g.387450
tctttttgttttctagacagttcactaattgttgaattttactgtatattcatataaaaa c.*180
. . . . . . g.387510
tgcaaacgtactagaccagtggagaatttgacaccttttctttttgtaaaagtttatggt c.*240
. . . . . . g.387570
attataccgatagaccaaaacagcatgtgtaagaggcagtatctgcactaattctcaaca c.*300
. . . . . . g.387630
tgctaaacattaactacaattcactgttgtgagaatattcctcgtcacagcaaaaacact c.*360
. . . . . . g.387690
ttcctttctactgacaaccagtcctccacatcacagcatttagacatatgggtaaaatgt c.*420
. . . . . . g.387750
tatttctagtgaattgtttgtatcagtttcatgtctaagtataaattttctattttaaaa c.*480
. . . . . . g.387810
tttaagaaccgtttataatcagtgctttcccaactcttgggttgctctccataactatgt c.*540
. . . . . . g.387870
atttgtgaaagaaaatggtcattttttttactgaagtcatataatgacttgggtcagctc c.*600
. . . . . . g.387930
gtaatgcattgtgatggttttgtatgagctgggtgtttttttccattacttttaatgatc c.*660
. . . . . . g.387990
ttcgttgcaagttatagttgtggataaaggggagaatttattgctcttgcaaaccaatta c.*720
. . . . . . g.388050
tggaaagcaacttaagaaaaccaatgttctaaatcataattgtttgtatttatgtaaagt c.*780
. . . . . . g.388110
atggtctcttactttttagtttgtagtttaagtgcaaagaaacagtagtggttttttttc c.*840
. . . . . . g.388170
tattgttttgtagtcttcctgtccccttcagtccctccagtgtgtatattaccattctcc c.*900
. . . . . . g.388230
aatgaaataatagggcatttaacaaagatcgctatgtgcaatactgtatttagtgtttct c.*960
. . . . . . g.388290
atttcaatttttctaggatgttaatttatatgaaaataaaatgaataataaaagaataaa c.*1020
. g.388305
gatacttgcaaaaga c.*1035
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 26
©2004-2021 Leiden University Medical Center