1-acylglycerol-3-phosphate O-acyltransferase 2 (AGPAT2) - coding DNA reference sequence

(used for variant description)

(last modified June 21, 2018)

This file was created to facilitate the description of sequence variants on transcript NM_006412.3 in the AGPAT2 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_008090.1, covering AGPAT2 transcript NM_006412.3.

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

 (upstream sequence)
                     .         .         .         .                g.5042
                   ccagccccgccgccctcgcaataaggggcctgagcgcgcggg       c.-61

 .         .         .         .         .         .                g.5102
 ggagaagcgggagcgggagcgggagcgagctggcggcgccgtcgggcgccgggccgggcc       c.-1

          .         .         .         .         .         .       g.5162
 ATGGAGCTGTGGCCGTGTCTGGCCGCGGCGCTGCTGTTGCTGCTGCTGCTGGTGCAGCTG       c.60
 M  E  L  W  P  C  L  A  A  A  L  L  L  L  L  L  L  V  Q  L         p.20

          .         .         .         .         .         .       g.5222
 AGCCGCGCGGCCGAGTTCTACGCCAAGGTCGCCCTGTACTGCGCGCTGTGCTTCACGGTG       c.120
 S  R  A  A  E  F  Y  A  K  V  A  L  Y  C  A  L  C  F  T  V         p.40

          .         .         .         .         .         .       g.5282
 TCCGCCGTGGCCTCGCTCGTCTGCCTGCTGCGCCACGGCGGCCGGACGGTGGAGAACATG       c.180
 S  A  V  A  S  L  V  C  L  L  R  H  G  G  R  T  V  E  N  M         p.60

    | 02     .         .         .         .         .         .    g.14961
 AG | CATCATCGGCTGGTTCGTGCGAAGCTTCAAGTACTTTTACGGGCTCCGCTTCGAGGTG    c.240
 S  |  I  I  G  W  F  V  R  S  F  K  Y  F  Y  G  L  R  F  E  V      p.80

          .         .         .         .         .         .       g.15021
 CGGGACCCGCGCAGGCTGCAGGAGGCCCGTCCCTGTGTCATCGTCTCCAACCACCAGAGC       c.300
 R  D  P  R  R  L  Q  E  A  R  P  C  V  I  V  S  N  H  Q  S         p.100

          .       | 03 .         .         .         .         .    g.15367
 ATCCTGGACATGATGG | GCCTCATGGAGGTCCTTCCGGAGCGCTGCGTGCAGATCGCCAAG    c.360
 I  L  D  M  M  G |   L  M  E  V  L  P  E  R  C  V  Q  I  A  K      p.120

          .         .         .         .         .         .       g.15427
 CGGGAGCTGCTCTTCCTGGGGCCCGTGGGCCTCATCATGTACCTCGGGGGCGTCTTCTTC       c.420
 R  E  L  L  F  L  G  P  V  G  L  I  M  Y  L  G  G  V  F  F         p.140

          .         .         .         .         .         .       g.15487
 ATCAACCGGCAGCGCTCTAGCACTGCCATGACAGTGATGGCCGACCTGGGCGAGCGCATG       c.480
 I  N  R  Q  R  S  S  T  A  M  T  V  M  A  D  L  G  E  R  M         p.160

          .   | 04     .         .         .         .         .    g.15827
 GTCAGGGAGAAC | CTCAAAGTGTGGATCTATCCCGAGGGTACTCGCAACGACAATGGGGAC    c.540
 V  R  E  N   | L  K  V  W  I  Y  P  E  G  T  R  N  D  N  G  D      p.180

          .         .         .         .         | 05         .    g.17664
 CTGCTGCCTTTTAAGAAGGGCGCCTTCTACCTGGCAGTCCAGGCACAG | GTGCCCATCGTC    c.600
 L  L  P  F  K  K  G  A  F  Y  L  A  V  Q  A  Q   | V  P  I  V      p.200

          .         .         .         .         .         .       g.17724
 CCCGTGGTGTACTCTTCCTTCTCCTCCTTCTACAACACCAAGAAGAAGTTCTTCACTTCA       c.660
 P  V  V  Y  S  S  F  S  S  F  Y  N  T  K  K  K  F  F  T  S         p.220

   | 06      .         .         .         .         .         .    g.18591
 G | GAACAGTCACAGTGCAGGTGCTGGAAGCCATCCCCACCAGCGGCCTCACTGCGGCGGAC    c.720
 G |   T  V  T  V  Q  V  L  E  A  I  P  T  S  G  L  T  A  A  D      p.240

          .         .         .         .         .         .       g.18651
 GTCCCTGCGCTCGTGGACACCTGCCACCGGGCCATGAGGACCACCTTCCTCCACATCTCC       c.780
 V  P  A  L  V  D  T  C  H  R  A  M  R  T  T  F  L  H  I  S         p.260

          .         .         .         .         .                 g.18708
 AAGACCCCCCAGGAGAACGGGGCCACTGCGGGGTCTGGCGTGCAGCCGGCCCAGTAG          c.837
 K  T  P  Q  E  N  G  A  T  A  G  S  G  V  Q  P  A  Q  X            p.278

          .         .         .         .         .         .       g.18768
 cccagaccacggcagggcatgacctggggagggcaggtggaagccgatggctggaggatg       c.*60

          .         .         .         .         .         .       g.18828
 ggcagaggggactcctcccggcttccaaataccactctgtccggctcccccagctctcac       c.*120

          .         .         .         .         .         .       g.18888
 tcagcccgggaagcaggaagccccttctgtcactggcctcagacacaggcccctggtgtc       c.*180

          .         .         .         .         .         .       g.18948
 ccctgcagggggctcagctggaccctccccgggctcgagggcagggactcgcgcccacgg       c.*240

          .         .         .         .         .         .       g.19008
 cacctctgggagctgggatgataaagatgaggcttgcggctgtggcccgctggtgggctg       c.*300

          .         .         .         .         .         .       g.19068
 agccacaaggcccccgatggcccaggagcagatgggaggaccccgaggccagacgcacac       c.*360

          .         .         .         .         .         .       g.19128
 tgtccgagccctctgctcagccgcctgggacccaccagggtgcagctgggctccagggtc       c.*420

          .         .         .         .         .         .       g.19188
 cagcccacaagctgcatcaggctctctgggagaggaggggcctggagggccaggagtccc       c.*480

          .         .         .         .         .         .       g.19248
 agactcacgcaccctgggccacagggagccgggaatcggggcctgctgctcctgctggcc       c.*540

          .         .         .         .         .         .       g.19308
 tggaagactctgtggggtcagcactgtactccgttgctgtttttttataaacacactctt       c.*600

                                                                    g.19317
 ggaagtggc                                                          c.*609

 (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 1-acylglycerol-3-phosphate O-acyltransferase 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.