(used for variant description)
(last modified March 20, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_002408.3 in the MGAT2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008920.1, covering MGAT2 transcript NM_002408.3.
(upstream sequence)
. g.5018
gggccggagggccgcggt c.-481
. . . . . . g.5078
gtgccgcggggcagttgcgggttgtcataacggtccccgccggagtgaggcgaggccgcg c.-421
. . . . . . g.5138
tcgctcagttctggccgtctagggcccctgtaaggatgagagcgcagaggacgcagggcc c.-361
. . . . . . g.5198
gctggaggcgcaggtaacgaagctagggtgcggttgggaccgcggctgagctttttccgg c.-301
. . . . . . g.5258
gacccgtggtgctgaatggagaggacggagacgaagccgagccgcggctcctagcggcgg c.-241
. . . . . . g.5318
cgccgatgctcgagctgtagctgccaggcgaggatgtgtggagcgcaggcggcgcggggt c.-181
. . . . . . g.5378
aaatgagaggtctcgggccccaggacccccggggcccgggatgagttagcgagggcagcc c.-121
. . . . . . g.5438
gcgggggccagttccgaccgtgacaggccaaggcgacggccgccgcccgcccgccccttc c.-61
. . . . . . g.5498
cgtgcagaagcagctgctcctttccgcgcccgcccgcctgcgctcccggccctggagacc c.-1
. . . . . . g.5558
ATGAGGTTCCGCATCTACAAACGGAAGGTGCTAATCCTGACGCTCGTGGTGGCCGCCTGC c.60
M R F R I Y K R K V L I L T L V V A A C p.20
. . . . . . g.5618
GGCTTCGTCCTCTGGAGCAGCAATGGGCGACAAAGGAAGAACGAGGCCCTCGCCCCACCG c.120
G F V L W S S N G R Q R K N E A L A P P p.40
. . . . . . g.5678
TTGCTGGACGCCGAACCCGCGCGGGGTGCCGGCGGCCGCGGTGGGGACCACCCCTCTGTG c.180
L L D A E P A R G A G G R G G D H P S V p.60
. . . . . . g.5738
GCTGTGGGCATCCGCAGGGTCTCCAACGTGTCGGCGGCTTCCCTGGTCCCGGCGGTCCCC c.240
A V G I R R V S N V S A A S L V P A V P p.80
. . . . . . g.5798
CAGCCCGAGGCGGACAACCTGACGCTGCGGTACCGGTCCCTGGTGTACCAGCTGAACTTT c.300
Q P E A D N L T L R Y R S L V Y Q L N F p.100
. . . . . . g.5858
GATCAGACCCTGAGGAATGTAGATAAGGCTGGCACCTGGGCCCCCCGGGAGCTGGTGCTG c.360
D Q T L R N V D K A G T W A P R E L V L p.120
. . . . . . g.5918
GTGGTCCAGGTGCATAACCGGCCCGAATACCTCAGACTGCTGCTGGACTCACTTCGAAAA c.420
V V Q V H N R P E Y L R L L L D S L R K p.140
. . . . . . g.5978
GCCCAGGGAATTGACAACGTCCTCGTCATCTTTAGCCATGACTTCTGGTCGACCGAGATC c.480
A Q G I D N V L V I F S H D F W S T E I p.160
. . . . . . g.6038
AATCAGCTGATCGCCGGGGTGAATTTCTGTCCGGTTCTGCAGGTGTTCTTTCCTTTCAGC c.540
N Q L I A G V N F C P V L Q V F F P F S p.180
. . . . . . g.6098
ATTCAGTTGTACCCTAACGAGTTTCCAGGTAGTGACCCTAGAGATTGTCCCAGAGACCTG c.600
I Q L Y P N E F P G S D P R D C P R D L p.200
. . . . . . g.6158
CCGAAGAATGCCGCTTTGAAATTGGGGTGCATCAATGCTGAGTATCCCGACTCCTTCGGC c.660
P K N A A L K L G C I N A E Y P D S F G p.220
. . . . . . g.6218
CATTATAGAGAGGCCAAATTCTCCCAGACCAAACATCACTGGTGGTGGAAGCTGCATTTT c.720
H Y R E A K F S Q T K H H W W W K L H F p.240
. . . . . . g.6278
GTGTGGGAAAGAGTGAAAATTCTTCGAGATTATGCTGGCCTTATACTTTTCCTAGAAGAG c.780
V W E R V K I L R D Y A G L I L F L E E p.260
. . . . . . g.6338
GATCACTACTTAGCCCCAGACTTTTACCATGTCTTCAAAAAGATGTGGAAACTGAAGCAG c.840
D H Y L A P D F Y H V F K K M W K L K Q p.280
. . . . . . g.6398
CAAGAGTGCCCTGAATGTGATGTTCTCTCCCTGGGGACCTATAGTGCCAGTCGCAGTTTC c.900
Q E C P E C D V L S L G T Y S A S R S F p.300
. . . . . . g.6458
TATGGCATGGCTGACAAGGTAGATGTGAAAACTTGGAAATCCACAGAGCACAATATGGGT c.960
Y G M A D K V D V K T W K S T E H N M G p.320
. . . . . . g.6518
CTAGCCTTGACCCGGAATGCCTATCAGAAGCTGATCGAGTGCACAGACACTTTCTGTACT c.1020
L A L T R N A Y Q K L I E C T D T F C T p.340
. . . . . . g.6578
TATGATGATTATAACTGGGACTGGACTCTTCAATACTTGACTGTATCTTGTCTTCCAAAA c.1080
Y D D Y N W D W T L Q Y L T V S C L P K p.360
. . . . . . g.6638
TTCTGGAAAGTGCTGGTTCCTCAAATTCCTAGGATCTTTCATGCTGGAGACTGTGGTATG c.1140
F W K V L V P Q I P R I F H A G D C G M p.380
. . . . . . g.6698
CATCACAAGAAAACCTGTAGACCATCCACTCAGAGTGCCCAAATTGAGTCACTCTTAAAT c.1200
H H K K T C R P S T Q S A Q I E S L L N p.400
. . . . . . g.6758
AATAACAAACAATACATGTTTCCAGAAACTCTAACTATCAGTGAAAAGTTTACTGTGGTA c.1260
N N K Q Y M F P E T L T I S E K F T V V p.420
. . . . . . g.6818
GCCATTTCCCCACCTAGAAAAAATGGAGGGTGGGGAGATATTAGGGACCATGAACTCTGT c.1320
A I S P P R K N G G W G D I R D H E L C p.440
. . g.6842
AAAAGTTATAGAAGACTGCAGTGA c.1344
K S Y R R L Q X p.447
. . . . . . g.6902
aaatcacagttacaaaagcgacagtcttctatttttgatatttgtccaaacaggacatac c.*60
. . . . . . g.6962
aattgaataaaagagtttaggaactggtttctgctttaatacaaaaacaaaatcttgtaa c.*120
. . . . . . g.7022
aaggtgtccaaatacatagtaatcttttccagttatgtctgattaagatttaaaactgaa c.*180
. . . . . . g.7082
ggtttcattttgggagtagggttttaaagctcaatctgttatctgctaaaattgattatt c.*240
. . . . . . g.7142
gttgatatgagagaagaggggaaattttatttaaattgcatttattaatctttttatctg c.*300
. . . . . . g.7202
aaactttgtacacttttccactttcaaaacctattttaagtacagcaaaatttatttaaa c.*360
. . . . . . g.7262
actgtcatagcagtaaaaagtattacgatgaaattgttagggtattaatggaacaaaccc c.*420
. . . . . . g.7322
agtttcactctcttgacacacttattaggaagggattgcttcactggtttaataatttaa c.*480
. . . . . . g.7382
aagttatgtttgttaaacaccctgtcagaacagtcattttcagtattagattcctgtact c.*540
. . . . . . g.7442
attgtgttttgagtgtgttttggaaccttcatagaacacactttcttttggaatgtattt c.*600
. . . . . . g.7502
gattgataagaaagtttaaacattgttttcacctcaatgtagaaatacagtggttttgtt c.*660
. . . . . . g.7562
tttttttttcttttagtgctgacaaaataaaatactcatttttgcataaaaaggttccta c.*720
. . . . . . g.7622
atccttttgcagaataagttttgtttactctttataccaaaattcagtgaaggcattcta c.*780
. . . . . . g.7682
caagttttgagttagcattacattttaatatttactattgctacattgtataattgagtt c.*840
. . g.7711
tgaaataaaacccagcttatgacaatgca c.*869
(downstream sequence)
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