filaggrin family member 2 (FLG2) - coding DNA reference sequence

(used for variant description)

(last modified December 5, 2022)


This file was created to facilitate the description of sequence variants on transcript NM_001014342.2 in the FLG2 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000001.10, covering FLG2 transcript NM_001014342.2.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                                                   .                g.5013
                                                accctgcaagctg       c.-61

 .         .         .         .        | 02.         .             g.6122
 catcaggctttatcctacttgttcctttggtgaaccag | gttcacttaaacttgcaaaaag    c.-1

          .         .         .         .         .         .       g.6182
 ATGACCGACCTCTTGAGAAGTGTTGTCACCGTAATTGATGTTTTCTACAAATACACCAAG       c.60
 M  T  D  L  L  R  S  V  V  T  V  I  D  V  F  Y  K  Y  T  K         p.20

          .         .         .         .         .         .       g.6242
 CAAGATGGGGAGTGTGGCACACTGAGCAAGGGTGAACTAAAGGAACTTCTGGAGAAAGAG       c.120
 Q  D  G  E  C  G  T  L  S  K  G  E  L  K  E  L  L  E  K  E         p.40

          .         | 03         .         .         .         .    g.7401
 CTTCATCCAGTTCTGAAG | AACCCAGATGATCCAGACACAGTGGATGTCATCATGCATATG    c.180
 L  H  P  V  L  K   | N  P  D  D  P  D  T  V  D  V  I  M  H  M      p.60

          .         .         .         .         .         .       g.7461
 CTGGATCGAGATCATGACAGAAGATTGGACTTTACTGAGTTTCTTTTGATGATATTCAAG       c.240
 L  D  R  D  H  D  R  R  L  D  F  T  E  F  L  L  M  I  F  K         p.80

          .         .         .         .         .         .       g.7521
 CTGACTATGGCCTGCAACAAGGTCCTCAGCAAAGAATACTGCAAAGCTTCAGGGTCAAAG       c.300
 L  T  M  A  C  N  K  V  L  S  K  E  Y  C  K  A  S  G  S  K         p.100

          .         .         .         .         .         .       g.7581
 AAGCATAGGCGTGGTCACCGACACCAAGAAGAAGAAAGTGAAACAGAAGAGGATGAAGAG       c.360
 K  H  R  R  G  H  R  H  Q  E  E  E  S  E  T  E  E  D  E  E         p.120

          .         .         .         .         .         .       g.7641
 GATACACCAGGACATAAATCAGGTTACAGACATTCAAGTTGGAGTGAGGGAGAGGAGCAT       c.420
 D  T  P  G  H  K  S  G  Y  R  H  S  S  W  S  E  G  E  E  H         p.140

          .         .         .         .         .         .       g.7701
 GGATATAGTTCTGGGCACTCAAGGGGAACTGTGAAATGTAGACATGGGTCCAACTCCAGG       c.480
 G  Y  S  S  G  H  S  R  G  T  V  K  C  R  H  G  S  N  S  R         p.160

          .         .         .         .         .         .       g.7761
 AGGCTAGGAAGACAAGGTAATTTATCCAGCTCTGGGAACCAAGAGGGATCTCAGAAAAGA       c.540
 R  L  G  R  Q  G  N  L  S  S  S  G  N  Q  E  G  S  Q  K  R         p.180

          .         .         .         .         .         .       g.7821
 TACCACAGGTCCAGCTGTGGTCATTCATGGAGTGGTGGCAAAGACAGACATGGTTCCAGC       c.600
 Y  H  R  S  S  C  G  H  S  W  S  G  G  K  D  R  H  G  S  S         p.200

          .         .         .         .         .         .       g.7881
 TCTGTAGAACTGAGAGAAAGAATAAACAAGTCACACATTAGCCCTTCTAGGGAATCTGGG       c.660
 S  V  E  L  R  E  R  I  N  K  S  H  I  S  P  S  R  E  S  G         p.220

          .         .         .         .         .         .       g.7941
 GAGGAGTATGAATCTGGATCTGGATCAAACAGTTGGGAAAGGAAAGGTCATGGTGGTCTG       c.720
 E  E  Y  E  S  G  S  G  S  N  S  W  E  R  K  G  H  G  G  L         p.240

          .         .         .         .         .         .       g.8001
 TCATGTGGATTGGAGACTAGTGGGCATGAATCAAACTCTACTCAGTCAAGAATTAGAGAA       c.780
 S  C  G  L  E  T  S  G  H  E  S  N  S  T  Q  S  R  I  R  E         p.260

          .         .         .         .         .         .       g.8061
 CAAAAGCTTGGGTCTAGCTGTTCAGGTTCAGGAGACAGTGGGAGGCGAAGTCATGCATGT       c.840
 Q  K  L  G  S  S  C  S  G  S  G  D  S  G  R  R  S  H  A  C         p.280

          .         .         .         .         .         .       g.8121
 GGTTATAGCAATTCAAGTGGGTGTGGAAGGCCACAAAATGCTTCAAGTTCTTGTCAGTCA       c.900
 G  Y  S  N  S  S  G  C  G  R  P  Q  N  A  S  S  S  C  Q  S         p.300

          .         .         .         .         .         .       g.8181
 CATAGATTTGGAGGGCAAGGAAATCAATTTAGCTATATTCAGTCAGGCTGTCAGTCAGGA       c.960
 H  R  F  G  G  Q  G  N  Q  F  S  Y  I  Q  S  G  C  Q  S  G         p.320

          .         .         .         .         .         .       g.8241
 ATTAAGGGAGGACAAGGCCATGGCTGTGTCTCAGGAGGTCAGCCCTCTGGATGTGGTCAA       c.1020
 I  K  G  G  Q  G  H  G  C  V  S  G  G  Q  P  S  G  C  G  Q         p.340

          .         .         .         .         .         .       g.8301
 CCTGAGTCTAACCCCTGTAGTCAGTCCTATAGTCAGAGAGGATATGGAGCTAGAGAAAAT       c.1080
 P  E  S  N  P  C  S  Q  S  Y  S  Q  R  G  Y  G  A  R  E  N         p.360

          .         .         .         .         .         .       g.8361
 GGTCAACCACAGAACTGTGGAGGACAATGGAGAACAGGCTCAAGTCAGTCCTCTTGCTGT       c.1140
 G  Q  P  Q  N  C  G  G  Q  W  R  T  G  S  S  Q  S  S  C  C         p.380

          .         .         .         .         .         .       g.8421
 GGACAATATGGGTCTGGAGGTAGCCAGTCTTGTAGTAATGGTCAACATGAATATGGTTCC       c.1200
 G  Q  Y  G  S  G  G  S  Q  S  C  S  N  G  Q  H  E  Y  G  S         p.400

          .         .         .         .         .         .       g.8481
 TGTGGCCGCTTTTCAAACTCTTCTAGTTCAAATGAATTTTCCAAATGTGATCAATATGGG       c.1260
 C  G  R  F  S  N  S  S  S  S  N  E  F  S  K  C  D  Q  Y  G         p.420

          .         .         .         .         .         .       g.8541
 TCTGGTTCAAGTCAGTCTACTAGCTTTGAACAACATGGAACAGGCTTGAGTCAGTCCTCT       c.1320
 S  G  S  S  Q  S  T  S  F  E  Q  H  G  T  G  L  S  Q  S  S         p.440

          .         .         .         .         .         .       g.8601
 GGGTTCGAACAACATGTATGTGGCTCAGGTCAAACTTGTGGCCAGCATGAGTCTACATCA       c.1380
 G  F  E  Q  H  V  C  G  S  G  Q  T  C  G  Q  H  E  S  T  S         p.460

          .         .         .         .         .         .       g.8661
 AGTCAATCCTTGGGCTATGACCAGCATGGGTCTAGCTCAGGTAAGACATCTGGCTTTGGA       c.1440
 S  Q  S  L  G  Y  D  Q  H  G  S  S  S  G  K  T  S  G  F  G         p.480

          .         .         .         .         .         .       g.8721
 CAACATGGGTCTGGCTCAGGTCAGTCCTCTGGCTTTGGACAATGTGGGTCAGGCTCAGGT       c.1500
 Q  H  G  S  G  S  G  Q  S  S  G  F  G  Q  C  G  S  G  S  G         p.500

          .         .         .         .         .         .       g.8781
 CAGTCCTCTGGCTTTGGACAGCATGGGTCTGTCTCAGGACAATCCTCTGGTTTTGGACAG       c.1560
 Q  S  S  G  F  G  Q  H  G  S  V  S  G  Q  S  S  G  F  G  Q         p.520

          .         .         .         .         .         .       g.8841
 CATGGGTCTGTCTCAGGACAATCCTCTGGTTTTGGACAACATGAGTCTAGATCACGTCAG       c.1620
 H  G  S  V  S  G  Q  S  S  G  F  G  Q  H  E  S  R  S  R  Q         p.540

          .         .         .         .         .         .       g.8901
 TCTAGCTATGGCCAACATGGTTCTGGCTCAAGTCAATCATCTGGCTATGGCCAATATGGG       c.1680
 S  S  Y  G  Q  H  G  S  G  S  S  Q  S  S  G  Y  G  Q  Y  G         p.560

          .         .         .         .         .         .       g.8961
 TCTAGAGAGACATCTGGCTTTGGACAACATGGGTTGGGCTCAGGTCAATCCACTGGCTTT       c.1740
 S  R  E  T  S  G  F  G  Q  H  G  L  G  S  G  Q  S  T  G  F         p.580

          .         .         .         .         .         .       g.9021
 GGCCAATATGGATCGGGCTCAGGTCAGTCCTCTGGCTTTGGACAACATGGGTCTGGCTCA       c.1800
 G  Q  Y  G  S  G  S  G  Q  S  S  G  F  G  Q  H  G  S  G  S         p.600

          .         .         .         .         .         .       g.9081
 GGACAATCCTCTGGCTTTGGACAACATGAGTCTAGATCAGGTCAGTCTAGTTATGGCCAA       c.1860
 G  Q  S  S  G  F  G  Q  H  E  S  R  S  G  Q  S  S  Y  G  Q         p.620

          .         .         .         .         .         .       g.9141
 CACAGTTCTGGCTCAAGTCAGTCATCTGGCTATGGCCAACATGGGTCTAGACAGACATCT       c.1920
 H  S  S  G  S  S  Q  S  S  G  Y  G  Q  H  G  S  R  Q  T  S         p.640

          .         .         .         .         .         .       g.9201
 GGCTTTGGACAACATGGGTCAGGCTCAAGTCAATCCACTGGCTTTGGCCAATATGGATCA       c.1980
 G  F  G  Q  H  G  S  G  S  S  Q  S  T  G  F  G  Q  Y  G  S         p.660

          .         .         .         .         .         .       g.9261
 GGCTCAGGTCAGTCCTCTGGCTTTGGACAACATGTTTCTGGCTCAGGACAATCCTCTGGT       c.2040
 G  S  G  Q  S  S  G  F  G  Q  H  V  S  G  S  G  Q  S  S  G         p.680

          .         .         .         .         .         .       g.9321
 TTTGGACAACATGAGTCTAGATCAGGTCATTCTAGCTATGGCCAACATGGTTTTGGCTCA       c.2100
 F  G  Q  H  E  S  R  S  G  H  S  S  Y  G  Q  H  G  F  G  S         p.700

          .         .         .         .         .         .       g.9381
 AGTCAATCATCTGGCTATGGTCAACATGGGTCAAGTTCAGGACAGACATCTGGATTTGGA       c.2160
 S  Q  S  S  G  Y  G  Q  H  G  S  S  S  G  Q  T  S  G  F  G         p.720

          .         .         .         .         .         .       g.9441
 CAACACGAGTTAAGCTCAGGTCAGTCTTCCAGCTTTGGCCAACATGGATCAGGCTCAGGT       c.2220
 Q  H  E  L  S  S  G  Q  S  S  S  F  G  Q  H  G  S  G  S  G         p.740

          .         .         .         .         .         .       g.9501
 CAGTCCTCTGGCTTTGGACAACATGGGTCTGGCTCAGGACAATCCTCTGGCTTTGGACAA       c.2280
 Q  S  S  G  F  G  Q  H  G  S  G  S  G  Q  S  S  G  F  G  Q         p.760

          .         .         .         .         .         .       g.9561
 CATGAGTCTAGATCAGGTCAGTCTAGCTATGGCCAACACAGTTCTGGCTCAAGTCAGTCA       c.2340
 H  E  S  R  S  G  Q  S  S  Y  G  Q  H  S  S  G  S  S  Q  S         p.780

          .         .         .         .         .         .       g.9621
 TCTGGCTATGGCCAACATGGGTCTAGACAGACATCTGGCTTTGGACAACATGGGTCAGGC       c.2400
 S  G  Y  G  Q  H  G  S  R  Q  T  S  G  F  G  Q  H  G  S  G         p.800

          .         .         .         .         .         .       g.9681
 TCAAGTCAATCCACTGGCTTTGGCCAATATGGATCAGGCTCAGGTCAGTCCGCTGGCTTT       c.2460
 S  S  Q  S  T  G  F  G  Q  Y  G  S  G  S  G  Q  S  A  G  F         p.820

          .         .         .         .         .         .       g.9741
 GGACAACATGGGTCTGGCTCAGGACAATCCTCTGGCTTTGGACAGCATGAGTCTAGATCA       c.2520
 G  Q  H  G  S  G  S  G  Q  S  S  G  F  G  Q  H  E  S  R  S         p.840

          .         .         .         .         .         .       g.9801
 CATCAGTCCAGCTATGGCCAACATGGTTCTGGCTCAAGTCAATCATCTGGCTATGGTCAA       c.2580
 H  Q  S  S  Y  G  Q  H  G  S  G  S  S  Q  S  S  G  Y  G  Q         p.860

          .         .         .         .         .         .       g.9861
 CATGGGTCAAGTTCGGGACAGACATCTGGCTTTGGACAACACAGGTCAAGCTCAGGTCAA       c.2640
 H  G  S  S  S  G  Q  T  S  G  F  G  Q  H  R  S  S  S  G  Q         p.880

          .         .         .         .         .         .       g.9921
 TACTCTGGCTTTGGACAACATGGATCAGGCTCAGGTCAGTCCAGTGGCTTTGGACAACAT       c.2700
 Y  S  G  F  G  Q  H  G  S  G  S  G  Q  S  S  G  F  G  Q  H         p.900

          .         .         .         .         .         .       g.9981
 GGGACTGGCTCAGGACAATACTCTGGTTTTGGACAACATGAGTCTAGATCACATCAGTCT       c.2760
 G  T  G  S  G  Q  Y  S  G  F  G  Q  H  E  S  R  S  H  Q  S         p.920

          .         .         .         .         .         .       g.10041
 AGCTATGGCCAACATGGTTCTGGCTCAAGTCAGTCATCTGGCTATGGTCAACATGGGTCA       c.2820
 S  Y  G  Q  H  G  S  G  S  S  Q  S  S  G  Y  G  Q  H  G  S         p.940

          .         .         .         .         .         .       g.10101
 AGTTCAGGACAGACTTTTGGATTTGGACAACACAGGTCAGGCTCAGGTCAATCCTCTGGC       c.2880
 S  S  G  Q  T  F  G  F  G  Q  H  R  S  G  S  G  Q  S  S  G         p.960

          .         .         .         .         .         .       g.10161
 TTTGGCCAACATGGATCAGGCTCAGGTCAGTCCTCTGGCTTTGGACAACATGAGTCAGGC       c.2940
 F  G  Q  H  G  S  G  S  G  Q  S  S  G  F  G  Q  H  E  S  G         p.980

          .         .         .         .         .         .       g.10221
 TCAGGAAAATCCTCTGGCTTTGGACAGCATGAGTCTAGATCAAGTCAGTCTAATTATGGC       c.3000
 S  G  K  S  S  G  F  G  Q  H  E  S  R  S  S  Q  S  N  Y  G         p.1000

          .         .         .         .         .         .       g.10281
 CAACATGGTTCTGGCTCAAGTCAGTCATCTGGCTATGGTCAACATGGGTCTAGTTCAGGA       c.3060
 Q  H  G  S  G  S  S  Q  S  S  G  Y  G  Q  H  G  S  S  S  G         p.1020

          .         .         .         .         .         .       g.10341
 CAGACAACTGGCTTTGGACAACACAGGTCAAGCTCAGGCCAATACTCAGGCTTTGGACAA       c.3120
 Q  T  T  G  F  G  Q  H  R  S  S  S  G  Q  Y  S  G  F  G  Q         p.1040

          .         .         .         .         .         .       g.10401
 CATGGATCAGGCTCAGATCAGTCCTCTGGCTTTGGACAACATGGGACTGGTTCAGGACAA       c.3180
 H  G  S  G  S  D  Q  S  S  G  F  G  Q  H  G  T  G  S  G  Q         p.1060

          .         .         .         .         .         .       g.10461
 TCCTCTGGTTTTGGACAATATGAGTCTAGATCACGTCAGTCTAGCTATGGCCAACATGGT       c.3240
 S  S  G  F  G  Q  Y  E  S  R  S  R  Q  S  S  Y  G  Q  H  G         p.1080

          .         .         .         .         .         .       g.10521
 TCTGGCTCAAGTCAATCATCTGGCTATGGTCAACATGGGTCAAATTCAGGACAGACATCT       c.3300
 S  G  S  S  Q  S  S  G  Y  G  Q  H  G  S  N  S  G  Q  T  S         p.1100

          .         .         .         .         .         .       g.10581
 GGATTTGGACAACACAGGCCAGGCTCAGGTCAGTCCTCTGGCTTTGGCCAATATGGATCG       c.3360
 G  F  G  Q  H  R  P  G  S  G  Q  S  S  G  F  G  Q  Y  G  S         p.1120

          .         .         .         .         .         .       g.10641
 GGCTCAGGTCAGTCTTCTGGCTTTGGACAACATGGGTCAGGCACAGGTAAATCCTCTGGC       c.3420
 G  S  G  Q  S  S  G  F  G  Q  H  G  S  G  T  G  K  S  S  G         p.1140

          .         .         .         .         .         .       g.10701
 TTTGCACAGCATGAGTACAGATCAGGTCAGTCTAGCTATGGCCAACATGGTACTGGCTCC       c.3480
 F  A  Q  H  E  Y  R  S  G  Q  S  S  Y  G  Q  H  G  T  G  S         p.1160

          .         .         .         .         .         .       g.10761
 AGTCAATCATCTGGCTGTGGCCAACATGAGTCTGGCTCAGGTCCAACCACAAGTTTTGGA       c.3540
 S  Q  S  S  G  C  G  Q  H  E  S  G  S  G  P  T  T  S  F  G         p.1180

          .         .         .         .         .         .       g.10821
 CAGCATGTGTCTGGCTCAGACAATTTCTCTAGTTCTGGACAACATATATCTGACTCAGGT       c.3600
 Q  H  V  S  G  S  D  N  F  S  S  S  G  Q  H  I  S  D  S  G         p.1200

          .         .         .         .         .         .       g.10881
 CAGTCCACTGGATTTGGCCAATATGGTTCAGGCTCAGGTCAATCAACTGGCTTGGGCCAG       c.3660
 Q  S  T  G  F  G  Q  Y  G  S  G  S  G  Q  S  T  G  L  G  Q         p.1220

          .         .         .         .         .         .       g.10941
 GGTGAATCTCAACAAGTAGAGTCAGGATCCACAGTTCATGGGAGACAGGAAACTACTCAT       c.3720
 G  E  S  Q  Q  V  E  S  G  S  T  V  H  G  R  Q  E  T  T  H         p.1240

          .         .         .         .         .         .       g.11001
 GGTCAGACAATAAATACCACTAGACATAGCCAGTCTGGTCAAGGACAATCCACACAGACA       c.3780
 G  Q  T  I  N  T  T  R  H  S  Q  S  G  Q  G  Q  S  T  Q  T         p.1260

          .         .         .         .         .         .       g.11061
 GGGTCCAGGGTAACTAGAAGACGAAGATCTAGCCAAAGTGAGAACAGTGACAGTGAAGTG       c.3840
 G  S  R  V  T  R  R  R  R  S  S  Q  S  E  N  S  D  S  E  V         p.1280

          .         .         .         .         .         .       g.11121
 CACTCAAAGGTCTCACACAGACATTCAGAACACATTCACACACAAGCTGGATCTCACTAC       c.3900
 H  S  K  V  S  H  R  H  S  E  H  I  H  T  Q  A  G  S  H  Y         p.1300

          .         .         .         .         .         .       g.11181
 CCAAAGTCAGGATCCACAGTTCGCAGAAGACAAGGAACTACTCATGGACAGAGAGGAGAT       c.3960
 P  K  S  G  S  T  V  R  R  R  Q  G  T  T  H  G  Q  R  G  D         p.1320

          .         .         .         .         .         .       g.11241
 ACCACTAGACATGGCCATTCTGGTCATGGACAGTCTACACAGACAGGTTCCAGAACATCT       c.4020
 T  T  R  H  G  H  S  G  H  G  Q  S  T  Q  T  G  S  R  T  S         p.1340

          .         .         .         .         .         .       g.11301
 GGAAGACAGAGATTTAGCCACAGTGATGCCACTGACAGTGAAGTGCACTCAGGGGTCTCA       c.4080
 G  R  Q  R  F  S  H  S  D  A  T  D  S  E  V  H  S  G  V  S         p.1360

          .         .         .         .         .         .       g.11361
 CATAGACCACACTCACAAGAACAAACTCACAGCCAAGCTGGATCTCAACATGGAGAGTCA       c.4140
 H  R  P  H  S  Q  E  Q  T  H  S  Q  A  G  S  Q  H  G  E  S         p.1380

          .         .         .         .         .         .       g.11421
 GAATCCACAGTTCATGAGAGACATGAAACTACTTATGGACAGACAGGAGAGGCCACTGGA       c.4200
 E  S  T  V  H  E  R  H  E  T  T  Y  G  Q  T  G  E  A  T  G         p.1400

          .         .         .         .         .         .       g.11481
 CATGGCCACTCTGGTCATGGACAGTCCACACAGAGAGGGTCCAGGACAACTGGAAGAAGG       c.4260
 H  G  H  S  G  H  G  Q  S  T  Q  R  G  S  R  T  T  G  R  R         p.1420

          .         .         .         .         .         .       g.11541
 GGATCTGGCCATAGTGAGTCCAGTGACAGTGAAGTGCACTCAGGGGGCTCACACAGACCA       c.4320
 G  S  G  H  S  E  S  S  D  S  E  V  H  S  G  G  S  H  R  P         p.1440

          .         .         .         .         .         .       g.11601
 CAATCACAAGAACAAACTCATGGCCAAGCCGGATCTCAACATGGAGAGTCAGGATCCACA       c.4380
 Q  S  Q  E  Q  T  H  G  Q  A  G  S  Q  H  G  E  S  G  S  T         p.1460

          .         .         .         .         .         .       g.11661
 GTTCATGGGAGACACGGAACTACTCATGGACAGACAGGAGATACCACTAGACATGCCCAC       c.4440
 V  H  G  R  H  G  T  T  H  G  Q  T  G  D  T  T  R  H  A  H         p.1480

          .         .         .         .         .         .       g.11721
 TATCATCATGGAAAATCCACACAGAGAGGGTCCAGTACAACTGGAAGAAGGGGATCTGGC       c.4500
 Y  H  H  G  K  S  T  Q  R  G  S  S  T  T  G  R  R  G  S  G         p.1500

          .         .         .         .         .         .       g.11781
 CACAGTGAGTCCAGTGACAGTGAAGTGCACTCAGGGGGCTCGCACACACATTCAGGACAC       c.4560
 H  S  E  S  S  D  S  E  V  H  S  G  G  S  H  T  H  S  G  H         p.1520

          .         .         .         .         .         .       g.11841
 ACTCACGGCCAAAGTGGATCTCAACATGGAGAGTCAGAATCCATAATTCATGACAGACAC       c.4620
 T  H  G  Q  S  G  S  Q  H  G  E  S  E  S  I  I  H  D  R  H         p.1540

          .         .         .         .         .         .       g.11901
 AGAATTACTCATGGACAGACAGGAGATACCACTAGACATTCCTACTCTGGTCATGAACAA       c.4680
 R  I  T  H  G  Q  T  G  D  T  T  R  H  S  Y  S  G  H  E  Q         p.1560

          .         .         .         .         .         .       g.11961
 ACCACACAGACAGGGTCCAGGACAACTGGAAGACAGAGAACTAGCCACAGTGAGTCCACT       c.4740
 T  T  Q  T  G  S  R  T  T  G  R  Q  R  T  S  H  S  E  S  T         p.1580

          .         .         .         .         .         .       g.12021
 GACAGTGAAGTGCACTCAGGGGGCTCACACAGACCACACTCACGAGAACACACTTACGGC       c.4800
 D  S  E  V  H  S  G  G  S  H  R  P  H  S  R  E  H  T  Y  G         p.1600

          .         .         .         .         .         .       g.12081
 CAAGCCGGATCTCAACATGAAGAGCCAGAATTCACAGTTCATGAGAGACACGGAACTACT       c.4860
 Q  A  G  S  Q  H  E  E  P  E  F  T  V  H  E  R  H  G  T  T         p.1620

          .         .         .         .         .         .       g.12141
 CATGGACAGATAGGAGATACCACTGGACATTCCCACTCTGGTCATGGACAGTCCACACAG       c.4920
 H  G  Q  I  G  D  T  T  G  H  S  H  S  G  H  G  Q  S  T  Q         p.1640

          .         .         .         .         .         .       g.12201
 AGAGGGTCCAGGACAACTGGAAGACAGAGATCTAGCCACAGTGAGTCCAGTGACAGTGAA       c.4980
 R  G  S  R  T  T  G  R  Q  R  S  S  H  S  E  S  S  D  S  E         p.1660

          .         .         .         .         .         .       g.12261
 GTGCACTCAGGGGTCTCACACACACATACAGGACACACTCATGGTCAAGCTGGATCTCAA       c.5040
 V  H  S  G  V  S  H  T  H  T  G  H  T  H  G  Q  A  G  S  Q         p.1680

          .         .         .         .         .         .       g.12321
 CATGGACAGTCAGAATCCATAGTTCCTGAGAGACATGGAACTACTCATGGACAGACAGGA       c.5100
 H  G  Q  S  E  S  I  V  P  E  R  H  G  T  T  H  G  Q  T  G         p.1700

          .         .         .         .         .         .       g.12381
 GATACCACTAGACATGCCCACTATCATCATGGATTAACCACACAGACAGGGTCCAGGACT       c.5160
 D  T  T  R  H  A  H  Y  H  H  G  L  T  T  Q  T  G  S  R  T         p.1720

          .         .         .         .         .         .       g.12441
 ACTGGAAGAAGGGGATCTGGCCACAGTGAGTACAGTGACAGTGAAGGGTACTCAGGAGTC       c.5220
 T  G  R  R  G  S  G  H  S  E  Y  S  D  S  E  G  Y  S  G  V         p.1740

          .         .         .         .         .         .       g.12501
 TCACATACACATTCAGGACACACTCATGGCCAAGCCAGATCTCAACATGGAGAGTCAGAA       c.5280
 S  H  T  H  S  G  H  T  H  G  Q  A  R  S  Q  H  G  E  S  E         p.1760

          .         .         .         .         .         .       g.12561
 TCCATAGTTCATGAGAGACATGGAACTATACATGGACAGACAGGCGATACCACCAGACAT       c.5340
 S  I  V  H  E  R  H  G  T  I  H  G  Q  T  G  D  T  T  R  H         p.1780

          .         .         .         .         .         .       g.12621
 GCCCACTCTGGTCATGGACAGTCCACACAGACAGGGTCCAGGACCACTGGAAGAAGGTCA       c.5400
 A  H  S  G  H  G  Q  S  T  Q  T  G  S  R  T  T  G  R  R  S         p.1800

          .         .         .         .         .         .       g.12681
 TCTGGCCACAGTGAGTACAGTGACAGTGAAGGGCACTCAGGGTTCTCACAAAGACCACAC       c.5460
 S  G  H  S  E  Y  S  D  S  E  G  H  S  G  F  S  Q  R  P  H         p.1820

          .         .         .         .         .         .       g.12741
 TCACGAGGACACACTCACGGCCAGGCTGGATCTCAACATGGAGAGTCAGAATCCATAGTT       c.5520
 S  R  G  H  T  H  G  Q  A  G  S  Q  H  G  E  S  E  S  I  V         p.1840

          .         .         .         .         .         .       g.12801
 GACGAGAGACATGGAACTACTCATGGACAGACAGGAGATACCAGTGGACATTCTCAATCT       c.5580
 D  E  R  H  G  T  T  H  G  Q  T  G  D  T  S  G  H  S  Q  S         p.1860

          .         .         .         .         .         .       g.12861
 GGTCATGGACAGTCCACACAGTCAGGATCCAGTACAACTGGAAGAAGGAGATCTGGCCAC       c.5640
 G  H  G  Q  S  T  Q  S  G  S  S  T  T  G  R  R  R  S  G  H         p.1880

          .         .         .         .         .         .       g.12921
 AGTGAGTCCAGTGACAGTGAAGTGCACTCAGGGGGCTCACATACACATTCAGGACACACA       c.5700
 S  E  S  S  D  S  E  V  H  S  G  G  S  H  T  H  S  G  H  T         p.1900

          .         .         .         .         .         .       g.12981
 CACAGCCAAGCCAGGTCTCAACATGGAGAGTCAGAATCCACAGTTCACAAGAGACACCAA       c.5760
 H  S  Q  A  R  S  Q  H  G  E  S  E  S  T  V  H  K  R  H  Q         p.1920

          .         .         .         .         .         .       g.13041
 ACTACTCATGGACAGACAGGAGATACCACTGAACATGGCCACCCTAGTCATGGACAAACC       c.5820
 T  T  H  G  Q  T  G  D  T  T  E  H  G  H  P  S  H  G  Q  T         p.1940

          .         .         .         .         .         .       g.13101
 ATACAGACAGGGTCCAGGACAACTGGAAGAAGGGGATCTGGCCACAGTGAGTACAGTGAC       c.5880
 I  Q  T  G  S  R  T  T  G  R  R  G  S  G  H  S  E  Y  S  D         p.1960

          .         .         .         .         .         .       g.13161
 AGTGAAGGGCCCTCAGGGGTCTCACACACACATTCAGGACACACTCACGGTCAAGCTGGA       c.5940
 S  E  G  P  S  G  V  S  H  T  H  S  G  H  T  H  G  Q  A  G         p.1980

          .         .         .         .         .         .       g.13221
 TCTCACTATCCAGAGTCAGGATCCTCAGTTCATGAGAGACACGGAACTACTCATGGACAA       c.6000
 S  H  Y  P  E  S  G  S  S  V  H  E  R  H  G  T  T  H  G  Q         p.2000

          .         .         .         .         .         .       g.13281
 ACAGCAGATACCACTAGACATGGCCACTCTGGTCATGGACAGTCCACACAGAGAGGGTCC       c.6060
 T  A  D  T  T  R  H  G  H  S  G  H  G  Q  S  T  Q  R  G  S         p.2020

          .         .         .         .         .         .       g.13341
 AGGACAACTGGAAGAAGGGCATCTGGCCACAGTGAGTACAGTGACAGTGAAGGGCACTCA       c.6120
 R  T  T  G  R  R  A  S  G  H  S  E  Y  S  D  S  E  G  H  S         p.2040

          .         .         .         .         .         .       g.13401
 GGGGTCTCACACACACATTCAGGACACGCTCATGGCCAAGCCGGATCTCAACATGGAGAG       c.6180
 G  V  S  H  T  H  S  G  H  A  H  G  Q  A  G  S  Q  H  G  E         p.2060

          .         .         .         .         .         .       g.13461
 TCAGGATCCTCAGTTCATGAGAGACACGGAACTACTCATGGACAGACAGGAGATACCACT       c.6240
 S  G  S  S  V  H  E  R  H  G  T  T  H  G  Q  T  G  D  T  T         p.2080

          .         .         .         .         .         .       g.13521
 AGACATGCTCACTCTGGTCATGGACAGTCCACACAGAGAGGGTCAAGGACAGCTGGAAGA       c.6300
 R  H  A  H  S  G  H  G  Q  S  T  Q  R  G  S  R  T  A  G  R         p.2100

          .         .         .         .         .         .       g.13581
 AGGGGATCTGGCCACAGTGAGTCCAGTGACAGTGAAGTGCACTCAGGGGTCTCACACACA       c.6360
 R  G  S  G  H  S  E  S  S  D  S  E  V  H  S  G  V  S  H  T         p.2120

          .         .         .         .         .         .       g.13641
 CATTCAGGACACACTTATGGCCAAGCCAGATCTCAACATGGAGAGTCAGGATCTGCCATT       c.6420
 H  S  G  H  T  Y  G  Q  A  R  S  Q  H  G  E  S  G  S  A  I         p.2140

          .         .         .         .         .         .       g.13701
 CACGGGAGACAGGGAACTATACATGGACAGACAGGAGATACCACTAGACATGGCCAGTCT       c.6480
 H  G  R  Q  G  T  I  H  G  Q  T  G  D  T  T  R  H  G  Q  S         p.2160

          .         .         .         .         .         .       g.13761
 GGTCATGGACAGTCCACACAGACAGGTTCCAGGACAACTGGAAGACAAAGATCTAGTCAC       c.6540
 G  H  G  Q  S  T  Q  T  G  S  R  T  T  G  R  Q  R  S  S  H         p.2180

          .         .         .         .         .         .       g.13821
 AGTGAGTCCAGTGATAGTGAAGTGCACTCAGAGGCCTCACCCACACATTCAGGACACACT       c.6600
 S  E  S  S  D  S  E  V  H  S  E  A  S  P  T  H  S  G  H  T         p.2200

          .         .         .         .         .         .       g.13881
 CACAGCCAAGCCGGATCTCGACATGGACAGTCAGGATCCTCAGGTCATGGGAGACAGGGA       c.6660
 H  S  Q  A  G  S  R  H  G  Q  S  G  S  S  G  H  G  R  Q  G         p.2220

          .         .         .         .         .         .       g.13941
 ACTACTCATGGACAGACAGGAGATACCACTAGACATGCCCACTATGGTTATGGACAATCC       c.6720
 T  T  H  G  Q  T  G  D  T  T  R  H  A  H  Y  G  Y  G  Q  S         p.2240

          .         .         .         .         .         .       g.14001
 ACACAGAGAGGGTCCAGGACAACTGGAAGAAGGGGATCTGGCCACAGTGAGTCCAGTGAC       c.6780
 T  Q  R  G  S  R  T  T  G  R  R  G  S  G  H  S  E  S  S  D         p.2260

          .         .         .         .         .         .       g.14061
 AGTGAAGTGCACTCATGGGGCTCACACACACATTCAGGACACATTCAGGGCCAAGCTGGA       c.6840
 S  E  V  H  S  W  G  S  H  T  H  S  G  H  I  Q  G  Q  A  G         p.2280

          .         .         .         .         .         .       g.14121
 TCTCAACAAAGACAGCCAGGATCCACAGTTCATGGGAGACTGGAAACTACTCATGGACAG       c.6900
 S  Q  Q  R  Q  P  G  S  T  V  H  G  R  L  E  T  T  H  G  Q         p.2300

          .         .         .         .         .         .       g.14181
 ACAGGAGATACCACTAGACATGGCCATTCTGGTTATGGACAATCCACACAGACAGGTTCC       c.6960
 T  G  D  T  T  R  H  G  H  S  G  Y  G  Q  S  T  Q  T  G  S         p.2320

          .         .         .         .         .         .       g.14241
 AGATCTAGTAGAGCAAGTCATTTTCAGTCACATAGTAGTGAAAGGCAAAGGCATGGATCA       c.7020
 R  S  S  R  A  S  H  F  Q  S  H  S  S  E  R  Q  R  H  G  S         p.2340

          .         .         .         .         .         .       g.14301
 AGTCAGGTTTGGAAACATGGCAGCTATGGACCTGCAGAATATGACTATGGGCACACTGGG       c.7080
 S  Q  V  W  K  H  G  S  Y  G  P  A  E  Y  D  Y  G  H  T  G         p.2360

          .         .         .         .         .         .       g.14361
 TATGGGCCTTCTGGTGGCAGCAGAAAAAGCATCAGTAATTCTCACCTTTCATGGTCAACA       c.7140
 Y  G  P  S  G  G  S  R  K  S  I  S  N  S  H  L  S  W  S  T         p.2380

          .         .         .                                     g.14397
 GACAGCACTGCAAACAAGCAACTGTCTAGACATTGA                               c.7176
 D  S  T  A  N  K  Q  L  S  R  H  X                                 p.2391

          .         .         .         .         .         .       g.14457
 cagttattttctagttctgaccttatagtatccaaagcaactaaaagaacaggaagacac       c.*60

          .         .         .         .         .         .       g.14517
 agtttaaatcatgaacagtcaatggtaagttatgaacattcagttgattctcagtatcag       c.*120

          .         .         .         .         .         .       g.14577
 tctcgacctattattataagaagtcaggaatctagtcatggacattctatagtaactcat       c.*180

          .         .         .         .         .         .       g.14637
 aaacagtcaaacaacacctatgttcaacctggatataacacagccagaagggagggatgt       c.*240

          .         .         .         .         .         .       g.14697
 acacatagccagtcaaatgaccaccttggatttggccatggacaatccatatcagttcat       c.*300

          .         .         .         .         .         .       g.14757
 ggccattcaaaatctagttcaatcagaaaacaggaatcccatactgataacaaaaagcat       c.*360

          .         .         .         .         .         .       g.14817
 tcagaagattgggagaaagacactcatgagcaattaggatctaggcatgggaagttagag       c.*420

          .         .         .         .         .         .       g.14877
 ttcaatacaataggtatacatggatctagccagcaacatttcggagatacaacttttcat       c.*480

          .         .         .         .         .         .       g.14937
 gggcaggtaagatccagcacaggttttgccagataggtattaagtcatgggccatcaaga       c.*540

          .         .         .         .         .         .       g.14997
 gatgcctagggtcagtctggattcagtaccaatgaaagacaagtatacagccatggccaa       c.*600

          .         .         .         .         .         .       g.15057
 tcaaatgatagttatgagtagtcaaatgacagcaaaagtcaaagatacattttcagtcac       c.*660

          .         .         .         .         .         .       g.15117
 tttcttgacagccaagaccctgcaggaattgaagagtataggtatagatattcatcaagc       c.*720

          .         .         .         .         .         .       g.15177
 agtgcaaccatatgcagtgggggagacaaaggcaagagtcagagtcaagtctgtcaggag       c.*780

          .         .         .         .         .         .       g.15237
 gtatcagaatatacggtgaggatgtgggcaaaaaacaaagaggctctgaggccagcggtt       c.*840

          .         .         .         .         .         .       g.15297
 accatacaaaggaaagaacaggctctggttccttctgcttagatagcaacaccccactct       c.*900

          .         .         .         .         .         .       g.15357
 atgaatatgtccaagaacaaaggagttattactttgaataagaagccaacataaactagc       c.*960

          .         .         .         .         .         .       g.15417
 ccaagataagaactaacccagagaagaaatgagacacatacatgaaattaaggtatttaa       c.*1020

          .         .         .         .         .         .       g.15477
 catgatctcctcttttggtagtaagggtatatgtctgttctttcattttaactatagttc       c.*1080

          .         .         .         .         .         .       g.15537
 tgtactatattacttttgtttggtgccaggtgtttttgtaaggctccacattcattgaac       c.*1140

          .         .         .         .         .         .       g.15597
 tccttggttagaaaatagtgaatgaggccgggcgcggtggctcacgcctgtaatcccagc       c.*1200

          .         .         .         .         .         .       g.15657
 actttgggaggccaagatgggtggatcacgaagtcaggagttcgagaccagcctggccaa       c.*1260

          .         .         .         .         .         .       g.15717
 catagtgaaatcccgtctctactaaaaatacaaaaattagctgggtgcagtagcgggcac       c.*1320

          .         .         .         .         .         .       g.15777
 ctgtaatcctagctactcaggaggctgaggcaggagaattggttgaacccgggaggcaga       c.*1380

          .         .         .         .         .         .       g.15837
 ggttgcagtgagccgagatcgcaccactgcactccagcctgggtgactgagcaagactcc       c.*1440

          .         .         .         .         .         .       g.15897
 accttgaaaaaaagaaagaaagaaaatagtgaatggaagaaaaagataaacaccatttgg       c.*1500

          .         .         .         .         .         .       g.15957
 ggctatattcagaactatataataaagagagatttgtgtggttgggaataaaattaggtt       c.*1560

          .         .         .         .         .         .       g.16017
 ttaaaaaaatttccgaatttcaaaatttggattttccagattttgttttaattaattatt       c.*1620

          .         .         .         .         .         .       g.16077
 gacaaacctatccaaggagctaaatgacgtggtttaggagccaaaacgtctctagaaaca       c.*1680

          .         .         .         .         .         .       g.16137
 ttataacacatcccatcctgaacaaagaatgttgtcatagtttcccacatgaatattcag       c.*1740

          .         .         .         .         .         .       g.16197
 aatatttgcatctttttgtgtcactactggaattctgtacaattatatttaaatttattg       c.*1800

          .         .         .         .         .         .       g.16257
 tcatggccttctggatataggatccagaaaattgtacttcataaaaattggcaataaaca       c.*1860

          .                                                         g.16270
 tttcatcaagtta                                                      c.*1873

 (downstream sequence)
Legend:
Nucleotide numbering (following the rules of the HGVS for a 'Coding DNA Reference Sequence') is indicated at the right of the sequence, counting the A of the ATG translation initiating Methionine as 1. Every 10th nucleotide is indicated by a "." above the sequence. The Filaggrin family member 2 protein sequence is shown below the coding DNA sequence, with numbering indicated at the right starting with 1 for the translation initiating Methionine. Every 10th amino acid is shown in bold. The position of introns is indicated by a vertical line, splitting the two exons. The start of the first exon (transcription initiation site) is indicated by a '\', the end of the last exon (poly-A addition site) by a '/'. The exon number is indicated above the first nucleotide(s) of the exon. To aid the description of frame shift variants, all stop codons in the +1 frame are shown in bold while all stop codons in the +2 frame are underlined.

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