basic helix-loop-helix family, member e22 (BHLHE22) - coding DNA reference sequence

(used for variant description)

(last modified October 28, 2026)

This file was created to facilitate the description of sequence variants on transcript NM_152414.4 in the BHLHE22 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000008.10, covering BHLHE22 transcript NM_152414.4.

Please note that introns are available by clicking on the exon numbers above the sequence.

 (upstream sequence)
                                                   .                g.5013
                                                ccagatagcgcct       c.-541

 .         .         .         .         .         .                g.5073
 gcgattgtttgttaccgttttaatcctattaattaaaacgttaacctgattgggtagaaa       c.-481

 .         .         .         .         .         .                g.5133
 gcgctgtcccaacaggcgagtcttcttcataataacctactcagagataatgatgtaaaa       c.-421

 .         .         .         .         .         .                g.5193
 gactcccccgtctgtggcggcggctgtttgatgggtccggaaatctcttgaaggtgaatc       c.-361

 .         .         .         .         .         .                g.5253
 caagcaagataaacggtgcggagaggaggcgcggggctgggctcagagcggcggcggcgg       c.-301

 .         .         .         .         .         .                g.5313
 cggctccactccctccgcgcccaccctcccaccatgcggggccgcggcccatggtgagcc       c.-241

 .         .         .         .         .         .                g.5373
 ccagcagccagcaccatcggctggagacgaagaagaagaagaagaggaggcggcgagcgc       c.-181

 .         .         .         .         .         .                g.5433
 gggggaaggcgaaaaagaaaaagaaagaaggggagagggctcccggcagcaccaggaccg       c.-121

 .         .         .         .         .         .                g.5493
 acgcgcgcaccagctccggagcccagctcgcgcgcgtctgtggggccgcctgactccggg       c.-61

 .         .         .         .         .         .                g.5553
 gccgaggcggcggcggcggcagcgggcgcggcggcccgggctgcgcgccggcgcgggacc       c.-1

          .         .         .         .         .         .       g.5613
 ATGGAGCGCGGGATGCACCTCGGTGCAGCGGCCGCCGGCGAGGACGACCTCTTCCTGCAC       c.60
 M  E  R  G  M  H  L  G  A  A  A  A  G  E  D  D  L  F  L  H         p.20

          .         .         .         .         .         .       g.5673
 AAGAGCCTGAGCGCCTCCACCTCCAAGCGCTTGGAAGCGGCTTTCCGCTCCACGCCCCCG       c.120
 K  S  L  S  A  S  T  S  K  R  L  E  A  A  F  R  S  T  P  P         p.40

          .         .         .         .         .         .       g.5733
 GGCATGGACCTGTCCCTGGCGCCGCCGCCTCGGGAACGCCCGGCGTCCTCCTCCTCGTCG       c.180
 G  M  D  L  S  L  A  P  P  P  R  E  R  P  A  S  S  S  S  S         p.60

          .         .         .         .         .         .       g.5793
 CCCCTGGGCTGCTTCGAGCCGGCTGACCCCGAGGGGGCAGGGCTGCTGTTGCCGCCGCCT       c.240
 P  L  G  C  F  E  P  A  D  P  E  G  A  G  L  L  L  P  P  P         p.80

          .         .         .         .         .         .       g.5853
 GGAGGAGGCGGCGGCGGCAGCGCGGGAAGTGGCGGCGGCGGCGGCGGCGGGGTGGGTGTC       c.300
 G  G  G  G  G  G  S  A  G  S  G  G  G  G  G  G  G  V  G  V         p.100

          .         .         .         .         .         .       g.5913
 CCCGGGCTGCTAGTAGGTTCAGCCGGCGTTGGGGGCGACCCTAGCCTAAGCAGCCTGCCG       c.360
 P  G  L  L  V  G  S  A  G  V  G  G  D  P  S  L  S  S  L  P         p.120

          .         .         .         .         .         .       g.5973
 GCCGGGGCCGCCCTTTGCCTCAAGTACGGCGAAAGCGCGAGCCGGGGCTCGGTGGCCGAG       c.420
 A  G  A  A  L  C  L  K  Y  G  E  S  A  S  R  G  S  V  A  E         p.140

          .         .         .         .         .         .       g.6033
 AGCAGCGGCGGCGAGCAGAGCCCCGACGACGACAGCGACGGTCGCTGCGAGCTCGTGCTG       c.480
 S  S  G  G  E  Q  S  P  D  D  D  S  D  G  R  C  E  L  V  L         p.160

          .         .         .         .         .         .       g.6093
 CGGGCCGGAGTAGCCGACCCGCGGGCCTCCCCGGGAGCGGGAGGTGGTGGCGCGAAGGCA       c.540
 R  A  G  V  A  D  P  R  A  S  P  G  A  G  G  G  G  A  K  A         p.180

          .         .         .         .         .         .       g.6153
 GCCGAGGGCTGCTCCAATGCCCACCTCCACGGCGGCGCCAGCGTCCCCCCGGGGGGCCTG       c.600
 A  E  G  C  S  N  A  H  L  H  G  G  A  S  V  P  P  G  G  L         p.200

          .         .         .         .         .         .       g.6213
 GGCGGCGGCGGCGGCGGGGGTAGCAGCAGCGGTAGCAGTGGCGGCGGTGGCGGTAGCGGT       c.660
 G  G  G  G  G  G  G  S  S  S  G  S  S  G  G  G  G  G  S  G         p.220

          .         .         .         .         .         .       g.6273
 AGCGGCAGCGGCGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAAATCCAAAGAGCAA       c.720
 S  G  S  G  G  S  S  S  S  S  S  S  S  S  K  K  S  K  E  Q         p.240

          .         .         .         .         .         .       g.6333
 AAGGCGCTGCGGCTTAACATCAATGCCCGAGAGCGCCGGCGGATGCACGACCTGAACGAC       c.780
 K  A  L  R  L  N  I  N  A  R  E  R  R  R  M  H  D  L  N  D         p.260

          .         .         .         .         .         .       g.6393
 GCGCTGGACGAGCTGCGCGCGGTGATCCCCTACGCGCACAGCCCCTCGGTGCGAAAGCTC       c.840
 A  L  D  E  L  R  A  V  I  P  Y  A  H  S  P  S  V  R  K  L         p.280

          .         .         .         .         .         .       g.6453
 TCCAAGATCGCCACGCTGCTGCTCGCCAAGAACTACATCCTCATGCAGGCGCAGGCCCTG       c.900
 S  K  I  A  T  L  L  L  A  K  N  Y  I  L  M  Q  A  Q  A  L         p.300

          .         .         .         .         .         .       g.6513
 GAGGAGATGCGGCGCCTAGTCGCCTACCTCAACCAGGGCCAGGCCATCTCGGCTGCCTCC       c.960
 E  E  M  R  R  L  V  A  Y  L  N  Q  G  Q  A  I  S  A  A  S         p.320

          .         .         .         .         .         .       g.6573
 CTGCCCAGCTCGGCGGCTGCAGCGGCAGCAGCTGCTGCCCTGCACCCGGCGCTCGGCGCC       c.1020
 L  P  S  S  A  A  A  A  A  A  A  A  A  L  H  P  A  L  G  A         p.340

          .         .         .         .         .         .       g.6633
 TACGAGCAGGCAGCCGGCTACCCGTTCAGCGCCGGACTGCCCCCGGCTGCCTCCTGCCCG       c.1080
 Y  E  Q  A  A  G  Y  P  F  S  A  G  L  P  P  A  A  S  C  P         p.360

          .         .         .         .         .         .       g.6693
 GAGAAGTGCGCCCTGTTTAACAGCGTCTCCTCCAGCCTCTGCAAACAGTGCACGGAGAAG       c.1140
 E  K  C  A  L  F  N  S  V  S  S  S  L  C  K  Q  C  T  E  K         p.380

                                                                    g.6699
 CCTTAA                                                             c.1146
 P  X                                                               p.381

          .         .         .         .         .         .       g.6759
 acacacccccgaaaaacacaagaccgacccaaaatctagaggaaagcgaaaagctgctcc       c.*60

          .         .         .         .         .         .       g.6819
 ccaccccctttattttggtcctctcgtagttgtgaaacacttgcagagcaaacaaagcag       c.*120

          .         .         .         .         .         .       g.6879
 aggcaagaactgaggagaagtatcagagacaaacgggacttttagccttgacatccccag       c.*180

          .         .         .         .         .         .       g.6939
 aatctcggtctttggggtggggagggagggaggagggaggtggagttgggatggagtatg       c.*240

          .         .         .         .         .         .       g.6999
 gatgtcttttttttctcagaaaagtggcaactttggtggcagcctagaccgcgaggaagt       c.*300

          .         .         .         .         .         .       g.7059
 ggaatcttccttaaaggtgaaacataagttgagaagtagtgcttggttattaagcctgga       c.*360

          .         .         .         .         .         .       g.7119
 gagtgtttgaatggcaaaatactaatcctactaataattgtggatttggctagtgctgag       c.*420

          .         .         .         .         .         .       g.7179
 ggggagaggaggggttaggggttgggtagcatgagagatggaatattcattcagacaaat       c.*480

          .         .         .         .         .         .       g.7239
 cagaaagggcacttgaaaataaattttgattctgagccaggagaaaaacttgaaatgttg       c.*540

          .         .         .         .         .         .       g.7299
 acttaagtgagggggaaataaaacccagagagagagagagagcgagagagagagacatgt       c.*600

          .         .         .         .         .         .       g.7359
 tactatgaaagacttgtattttttattgtctctgaactttaatcctgtgaaaatgctcaa       c.*660

          .         .         .         .         .         .       g.7419
 agttttggcgagagtgatataaaaaaactgactgtggctgaaagaattgcatttaaaaat       c.*720

          .         .         .         .         .         .       g.7479
 atttatgtgcaccttgttactttctactctgcaatgatgtattaacaattcatggtattt       c.*780

          .         .         .         .         .         .       g.7539
 atttgttattcttcaatgacccttccacatcaacagtatttatcatgtgttaaagtcatg       c.*840

          .         .         .         .         .         .       g.7599
 ggtcttatgtgcagatttttttaatgcctctaaaattgttttatagattacttatgctgt       c.*900

          .         .         .         .         .         .       g.7659
 gtgccaagtgtttaaaggtttatttgccaacaagtatgaagagaaatattgatgtatctg       c.*960

          .         .         .         .         .         .       g.7719
 agctgcttaggtttatgaaaggtcacctggatattttcagttgcatcatccctgtattta       c.*1020

          .         .         .         .         .         .       g.7779
 aattgagctttaataaattgcttcagtccaaaaattacaggaaaggtgtattcttaattg       c.*1080

          .         .         .         .         .         .       g.7839
 atgaatgaattgatctcttttttgaaaggggactcctttacattccaaaagggaaaaaca       c.*1140

          .         .         .         .         .         .       g.7899
 tcacagcaatagttgctatacgtaagaacatgctaagcaaatatttttccaggctgtgct       c.*1200

          .         .         .         .         .         .       g.7959
 gtgcatttttaaaaggtctaatttaattgcttttaatatatatgtacatatatgttattt       c.*1260

          .         .         .         .         .         .       g.8019
 taactgtggagaattatttaagttaaaagactggtttgatttgcctatggtgtgaaatcc       c.*1320

          .         .         .         .         .         .       g.8079
 tttgttatttttctaaaaaaataaaatttaaaaagaaagaaaactaaggaagaacaagaa       c.*1380

          .         .         .         .         .         .       g.8139
 gctatttacccaaagtgagctttcagttttagttttgcatggctgtttgactgcctttcc       c.*1440

          .         .         .         .         .         .       g.8199
 gccctatgaaaatcaagaaaatcttttttaaaaatggagtcctgctattttccactcctt       c.*1500

          .         .         .         .         .         .       g.8259
 gcagataatacaaattcagtttgtcaggttggatggtgagttgggagctgtgatggatct       c.*1560

          .         .         .         .         .         .       g.8319
 gttggcgggttttggatgtgtaaagaatgatatatatattaaataggtcaatcagactat       c.*1620

          .         .         .         .         .         .       g.8379
 gacagctatgtacgaccatttgtatgtgtatctatgtcagaaagaatctttattaaaata       c.*1680

          .                                                         g.8397
 ttttgatcaaacatttta                                                 c.*1698

 (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 10^th nucleotide is indicated by a "." above the sequence. The Basic helix-loop-helix family, member e22 protein sequence is shown below the coding DNA sequence, with numbering indicated at the right starting with 1 for the translation initiating Methionine. Every 10^th 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.