KDEL endoplasmic reticulum protein retention receptor 2 (KDELR2) - coding DNA reference sequence

(used for variant description)

(last modified May 16, 2021)

This file was created to facilitate the description of sequence variants on transcript NM_006854.3 in the KDELR2 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000007.13, covering KDELR2 transcript NM_006854.3.

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

 (upstream sequence)
                     .         .         .         .                g.5041
                    agggtgccccgcgcgcgcgcgcgccggcagttcggccacgt       c.-121

 .         .         .         .         .         .                g.5101
 ccctggccacgtcgcgggcgatctcgccatcttcgccgcttcctctcaggggccgccgcc       c.-61

 .         .         .         .         .         .                g.5161
 tcctgagccgcccagccccggggccgccgcgctgcgccgaccgccaccgccgccgccgcc       c.-1

          .         .         .         .         .         .       g.5221
 ATGAACATTTTCCGGCTGACTGGGGACCTGTCCCACCTGGCGGCCATCGTCATCCTGCTG       c.60
 M  N  I  F  R  L  T  G  D  L  S  H  L  A  A  I  V  I  L  L         p.20

          .         .         .  | 02      .         .         .    g.14963
 CTGAAGATCTGGAAGACGCGCTCCTGCGCCG | GTATTTCTGGGAAAAGCCAGCTTCTGTTT    c.120
 L  K  I  W  K  T  R  S  C  A  G |   I  S  G  K  S  Q  L  L  F      p.40

          .         .         .         .         .         .       g.15023
 GCACTGGTCTTCACAACTCGTTACCTGGATCTTTTTACTTCATTTATTTCATTGTATAAC       c.180
 A  L  V  F  T  T  R  Y  L  D  L  F  T  S  F  I  S  L  Y  N         p.60

          .   | 03     .         .         .         .         .    g.19512
 ACATCTATGAAG | GTTATCTACCTTGCCTGCTCCTATGCCACAGTGTACCTGATCTACCTG    c.240
 T  S  M  K   | V  I  Y  L  A  C  S  Y  A  T  V  Y  L  I  Y  L      p.80

          .         .         .         .         .         .       g.19572
 AAATTTAAGGCAACCTACGATGGAAATCATGATACCTTCCGAGTGGAGTTTCTGGTGGTC       c.300
 K  F  K  A  T  Y  D  G  N  H  D  T  F  R  V  E  F  L  V  V         p.100

          .         .         .         .         .  | 04      .    g.22904
 CCTGTGGGAGGCCTCTCATTTTTAGTTAATCACGATTTCTCTCCTCTTGAG | ATCCTCTGG    c.360
 P  V  G  G  L  S  F  L  V  N  H  D  F  S  P  L  E   | I  L  W      p.120

          .         .         .         .         .         .       g.22964
 ACCTTCTCCATCTACCTGGAGTCCGTGGCTATCCTTCCGCAGCTATTTATGATCAGCAAG       c.420
 T  F  S  I  Y  L  E  S  V  A  I  L  P  Q  L  F  M  I  S  K         p.140

          .         .         .         .         .         .       g.23024
 ACTGGGGAGGCCGAGACCATCACCACCCACTACCTGTTCTTCCTGGGCCTCTATCGTGCT       c.480
 T  G  E  A  E  T  I  T  T  H  Y  L  F  F  L  G  L  Y  R  A         p.160

          .         .         .         .         .         .       g.23084
 TTGTATCTTGTCAACTGGATCTGGCGCTTCTACTTTGAGGGCTTCTTTGACCTCATTGCT       c.540
 L  Y  L  V  N  W  I  W  R  F  Y  F  E  G  F  F  D  L  I  A         p.180

          .         .         .         .         .         .       g.23144
 GTGGTGGCCGGCGTAGTCCAGACCATCCTATACTGTGACTTCTTCTACTTGTACATTACA       c.600
 V  V  A  G  V  V  Q  T  I  L  Y  C  D  F  F  Y  L  Y  I  T         p.200

      | 05   .         .         .                                  g.26099
 AAAG | TACTCAAGGGAAAGAAGCTCAGTTTGCCAGCATAA                         c.639
 K  V |   L  K  G  K  K  L  S  L  P  A  X                           p.212

          .         .         .         .         .         .       g.26159
 gtgccaaagaccatcaccagcatctgtccttcagggtgctcggacagaattcttaccaca       c.*60

          .         .         .         .         .         .       g.26219
 gcaaaggcataagatgcttgatacggaaaatcagaaacttaactcttttgttgcagatag       c.*120

          .         .         .         .         .         .       g.26279
 tcatcagtggctctgtaaaaacgcagaggaaaagagccagaaggtttctgtttaatgcat       c.*180

          .         .         .         .         .         .       g.26339
 cttgccttatctttttttattactgtgtacaaagatttttttacacaaagaaacttaatg       c.*240

          .         .         .         .         .         .       g.26399
 ctgtattaataaattcagtgtgtagcttcaattgggatagttccaaaagtgaagattttg       c.*300

          .         .         .         .         .         .       g.26459
 tgaggaataagtgcaaattttttttttattttaaaaaattctttgaaactcttaagtctt       c.*360

          .         .         .         .         .         .       g.26519
 tgtgtctgcaatgaaattgtactccttgacagttgatagattatatattcttccatccct       c.*420

          .         .         .         .         .         .       g.26579
 caaacttgcattccactatatttattttttggcaaaagatgagctgtatttgtttgaaat       c.*480

          .         .         .         .         .         .       g.26639
 ctgagacactatgttcaattggatgtatctgttcaaatttattcccacgtgacgtggaag       c.*540

          .         .         .         .         .         .       g.26699
 tccttcgttggatgtcacaacactacatttaaggttggtaaggatgacttggaggtccat       c.*600

          .         .         .         .         .         .       g.26759
 ggttttcattaccaacattttaagattctgaatgtcgatggagtctcactgaagagtcac       c.*660

          .         .         .         .         .         .       g.26819
 caaaggtgcctgccctcctcccctgctgggaagtgtcagttggagactgtcccaagggtg       c.*720

          .         .         .         .         .         .       g.26879
 ctgaagaatccagtggcaggggttctggctgctttccatctgagtgtgggatgggagggg       c.*780

          .         .         .         .         .         .       g.26939
 tgttcatgatcatttggatatagcaatctactctgagaaatggaacacaaggagttacct       c.*840

          .         .         .         .         .         .       g.26999
 atcactttcacttataattccaaaagatgactacaaccatgtccatgctcagattcaaac       c.*900

          .         .         .         .         .         .       g.27059
 agttttccatatcacttttgggtggtaagatgatttaattacagttttttttttaattgg       c.*960

          .         .         .         .         .         .       g.27119
 cagcaccactaaccattccttacattcttttttgtatgtgtggttttctttttatttaac       c.*1020

          .         .         .         .         .         .       g.27179
 ccgcagccgacatcgtagtttcttgttttgttttgttttacagagctgttgcatgactta       c.*1080

          .         .         .         .         .         .       g.27239
 tgttaccatcctaaaaaacactatattaaacatggaataaattgtctttttatgaattag       c.*1140

          .         .         .         .         .         .       g.27299
 gctttttgaacatcctgtgttgggatttttttgtttttcaattggcaacaaaagctctgt       c.*1200

          .         .         .         .         .         .       g.27359
 agggctgcagacatttaaagttcacataatcatctgtaagacattatgtattttgtggaa       c.*1260

          .         .         .         .         .         .       g.27419
 atactagaatttttttcctgattttgccattatatggatttgctattttttgattaatgc       c.*1320

          .         .         .         .         .         .       g.27479
 aaaagtatatgactttgttttttatgtgatacaccataaatattaaagtgttgaatacta       c.*1380

          .         .         .         .         .         .       g.27539
 acagtgctgactacaagaaggatgtagtattttggctttctgcattacaacgtcttctgg       c.*1440

          .         .         .         .         .         .       g.27599
 aggaagggagcaggatgggtttcatttgtatctagtgtgtgtcttaacatctttctaaat       c.*1500

          .         .         .         .         .         .       g.27659
 cggcagtgtaactgcatagtttaacttcctgtctgtctccctcattttactcttccctcc       c.*1560

          .         .         .         .         .         .       g.27719
 ttgtcttatgttttggcttttgtgtatcagagcatctttctttgcagcatcctagtcttg       c.*1620

          .         .         .         .         .         .       g.27779
 cttcagtttctgtggtctcttttcatcctgcttgaagattcggagtgtggaaggaggcta       c.*1680

          .         .         .         .         .         .       g.27839
 ggaagtctggtgcagtaggtgagcagacctcttgctgcccagcccagggtgggtggggcg       c.*1740

          .         .         .         .         .         .       g.27899
 cacacctgtctttgtgcatgcaaatctgatacacctggcgcatcctctggagagcacaac       c.*1800

          .         .         .         .         .         .       g.27959
 gcatggaaaggtctggaagctctgtgtagccattccttctgcagtcatcctacccaagta       c.*1860

          .         .         .         .         .         .       g.28019
 aaagtaaccttggctatgttaccaccgttttggtcacccaggaggacatcttagcaaggg       c.*1920

          .         .         .         .         .         .       g.28079
 tgcctgcgagggagtgtgggactgggcctcatcctcgccggcgttggaaaccaaggcctt       c.*1980

          .         .         .         .         .         .       g.28139
 gtatgccacgccttatgaagcactgtttcacagttactttcacttcccgaataaaggtta       c.*2040

          .         .                                               g.28159
 ccaggtaattaatattttta                                               c.*2060

 (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 KDEL endoplasmic reticulum protein retention receptor 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 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.