(used for variant description)
(last modified January 10, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_032564.4 in the DGAT2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000011.9, covering DGAT2 transcript NM_032564.4.
(upstream sequence)
. g.5019
tgccccgttgtgaggtgat c.-241
. . . . . . g.5079
aaagtgttgcgctccgggacgccagcgccgcggctgccgcctctgctggggtctaggctg c.-181
. . . . . . g.5139
tttctctcgcgccaccactggccgccggccgcagctccaggtgtcctagccgcccagcct c.-121
. . . . . . g.5199
cgacgccgtcccgggacccctgtgctctgcgcgaagccctggccccgggggccggggcat c.-61
. . . . . . g.5259
gggccaggggcgcggggtgaagcggcttcccgcggggccgtgactgggcgggcttcagcc c.-1
. . . . . . g.5319
ATGAAGACCCTCATAGCCGCCTACTCCGGGGTCCTGCGCGGCGAGCGTCAGGCCGAGGCT c.60
M K T L I A A Y S G V L R G E R Q A E A p.20
. . . . . . g.5379
GACCGGAGCCAGCGCTCTCACGGAGGACCTGCGCTGTCGCGCGAGGGGTCTGGGAGATGG c.120
D R S Q R S H G G P A L S R E G S G R W p.40
| 02 . . . . . . g.20944
G | GCACTGGATCCAGCATCCTCTCCGCCCTCCAGGACCTCTTCTCTGTCACCTGGCTCAAT c.180
G | T G S S I L S A L Q D L F S V T W L N p.60
. . . . . . g.21004
AGGTCCAAGGTGGAAAAGCAGCTACAGGTCATCTCAGTGCTCCAGTGGGTCCTGTCCTTC c.240
R S K V E K Q L Q V I S V L Q W V L S F p.80
. | 03 . . . . . g.26505
CTTGTACTGG | GAGTGGCCTGCAGTGCCATCCTCATGTACATATTCTGCACTGATTGCTGG c.300
L V L G | V A C S A I L M Y I F C T D C W p.100
. . . . . | 04 g.26930
CTCATCGCTGTGCTCTACTTCACTTGGCTGGTGTTTGACTGGAACACACCCAAGAAAG | GT c.360
L I A V L Y F T W L V F D W N T P K K G | p.120
. . . . . . g.26990
GGCAGGAGGTCACAGTGGGTCCGAAACTGGGCTGTGTGGCGCTACTTTCGAGACTACTTT c.420
G R R S Q W V R N W A V W R Y F R D Y F p.140
| 05 . . . . . g.32646
CCCATCCAG | CTGGTGAAGACACACAACCTGCTGACCACCAGGAACTATATCTTTGGATAC c.480
P I Q | L V K T H N L L T T R N Y I F G Y p.160
. . . . . . g.32706
CACCCCCATGGTATCATGGGCCTGGGTGCCTTCTGCAACTTCAGCACAGAGGCCACAGAA c.540
H P H G I M G L G A F C N F S T E A T E p.180
. . . . . . g.32766
GTGAGCAAGAAGTTCCCAGGCATACGGCCTTACCTGGCTACACTGGCAGGCAACTTCCGA c.600
V S K K F P G I R P Y L A T L A G N F R p.200
. . . | 06 . . . g.33451
ATGCCTGTGTTGAGGGAGTACCTGATGTCTGGAG | GTATCTGCCCTGTCAGCCGGGACACC c.660
M P V L R E Y L M S G G | I C P V S R D T p.220
. . . . . . g.33511
ATAGACTATTTGCTTTCAAAGAATGGGAGTGGCAATGCTATCATCATCGTGGTCGGGGGT c.720
I D Y L L S K N G S G N A I I I V V G G p.240
. . . . . . g.33571
GCGGCTGAGTCTCTGAGCTCCATGCCTGGCAAGAATGCAGTCACCCTGCGGAACCGCAAG c.780
A A E S L S S M P G K N A V T L R N R K p.260
. . | 07 . . . g.34525
GGCTTTGTGAAACTGGCCCTGCGTCATGG | AGCTGACCTGGTTCCCATCTACTCCTTTGGA c.840
G F V K L A L R H G | A D L V P I Y S F G p.280
. . . . . . g.34585
GAGAATGAAGTGTACAAGCAGGTGATCTTCGAGGAGGGCTCCTGGGGCCGATGGGTCCAG c.900
E N E V Y K Q V I F E E G S W G R W V Q p.300
. . . . . . g.34645
AAGAAGTTCCAGAAATACATTGGTTTCGCCCCATGCATCTTCCATGGTCGAGGCCTCTTC c.960
K K F Q K Y I G F A P C I F H G R G L F p.320
. . . . . | 08 . g.36629
TCCTCCGACACCTGGGGGCTGGTGCCCTACTCCAAGCCCATCACCACTGTTG | TGGGAGAG c.1020
S S D T W G L V P Y S K P I T T V V | G E p.340
. . . . . . g.36689
CCCATCACCATCCCCAAGCTGGAGCACCCAACCCAGCAAGACATCGACCTGTACCACACC c.1080
P I T I P K L E H P T Q Q D I D L Y H T p.360
. . . . . . g.36749
ATGTACATGGAGGCCCTGGTGAAGCTCTTCGACAAGCACAAGACCAAGTTCGGCCTCCCG c.1140
M Y M E A L V K L F D K H K T K F G L P p.380
. . g.36776
GAGACTGAGGTCCTGGAGGTGAACTGA c.1167
E T E V L E V N X p.388
. . . . . . g.36836
gccagccttcggggccaattccctggaggaaccagctgcaaatcacttttttgctctgta c.*60
. . . . . . g.36896
aatttggaagtgtcatgggtgtctgtgggttatttaaaagaaattataacaattttgcta c.*120
. . . . . . g.36956
aaccattacaatgttaggtcttttttaagaaggaaaaagtcagtatttcaagttctttca c.*180
. . . . . . g.37016
cttccagcttgccctgttctaggtggtggctaaatctgggcctaatctgggtggctcagc c.*240
. . . . . . g.37076
taacctctcttcttcccttcctgaagtgacaaaggaaactcagtcttcttggggaagaag c.*300
. . . . . . g.37136
gattgccattagtgacttggaccagttagatgattcactttttgcccctagggatgagag c.*360
. . . . . . g.37196
gcgaaagccacttctcatacaagcccctttattgccactaccccacgctcgtctagtcct c.*420
. . . . . . g.37256
gaaactgcaggaccagtttctctgccaaggggaggagttggagagcacagttgccccgtt c.*480
. . . . . . g.37316
gtgtgagggcagtagtaggcatctggaatgctccagtttgatctcccttctgccacccct c.*540
. . . . . . g.37376
acctcacccctagtcactcatatcggagcctggactggcctccaggatgaggatgggggt c.*600
. . . . . . g.37436
ggcaatgacaccctgcaggggaaaggactgccccccatgcaccattgcagggaggatgcc c.*660
. . . . . . g.37496
gccaccatgagctaggtggagtaactggtttttcttgggtggctgatgacatggatgcag c.*720
. . . . . . g.37556
cacagactcagccttggcctggagcacatgcttactggtggcctcagtttaccttcccca c.*780
. . . . . . g.37616
gatcctagattctggatgtgaggaagagatccctcttcagaaggggcctggccttctgag c.*840
. . . . . . g.37676
cagcagattagttccaaagcaggtggcccccgaacccaagcctcacttttctgtgccttc c.*900
. . . . . . g.37736
ctgagggggttgggccggggaggaaacccaaccctctcctgtgtgttctgttatctcttg c.*960
. . . . . . g.37796
atgagatcattgcaccatgtcagacttttgtatatgccttgaaaataaatgaaagtgaga c.*1020
g.37804
atcctcta c.*1028
(downstream sequence)
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