(used for variant description)
(last modified May 23, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_000408.4 in the GPD2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_016606.1, covering GPD2 transcript NM_000408.4.
(upstream sequence)
. g.5949
ccccgcgcgcctcg c.-121
. . . . . . g.6009
ctgggagcacccgggccgaggctctgattctggggggaggccgactccaccctggctgga c.-61
. . . . . . | 02 g.45653
ggaactgggtgctcctgcccgctggcccctcgcgcgtgaggatctatctcag | gctaagaa c.-1
. . . . . . g.45713
ATGGCATTTCAAAAGGCAGTGAAAGGGACGATTCTTGTTGGAGGAGGTGCTCTTGCAACT c.60
M A F Q K A V K G T I L V G G G A L A T p.20
. . . . | 03 . . g.65609
GTTTTAGGACTTTCTCAGTTTGCTCATTACAGAAGGAAACAA | ATGAACCTGGCCTATGTT c.120
V L G L S Q F A H Y R R K Q | M N L A Y V p.40
. . . . . . g.65669
AAAGCAGCAGACTGCATTTCAGAACCAGTTAACAGGGAGCCTCCTTCCAGAGAAGCTCAG c.180
K A A D C I S E P V N R E P P S R E A Q p.60
. . . . . . g.65729
CTACTGACTTTGCAAAACACATCTGAATTTGATATCCTTGTTATTGGAGGAGGAGCAACA c.240
L L T L Q N T S E F D I L V I G G G A T p.80
. . . | 04 . . . g.80369
GGAAGTGGCTGTGCGCTAGATGCTGTCACCAGAG | GACTAAAAACAGCCCTTGTAGAAAGA c.300
G S G C A L D A V T R G | L K T A L V E R p.100
. . . . . . g.80429
GATGATTTCTCATCAGGGACCAGCAGCAGAAGCACTAAATTGATCCATGGTGGTGTGAGA c.360
D D F S S G T S S R S T K L I H G G V R p.120
. . . | 05 . . g.81788
TATCTGCAGAAGGCCATCATGAAGTTGGATATTGAGCAG | TATAGGATGGTAAAAGAAGCC c.420
Y L Q K A I M K L D I E Q | Y R M V K E A p.140
. . . . . . g.81848
CTTCATGAGCGTGCCAACCTGCTAGAAATTGCTCCCCATTTATCAGCTCCATTGCCTATA c.480
L H E R A N L L E I A P H L S A P L P I p.160
. | 06. . . . . g.82923
ATGCTTCCAGTTTACAA | GTGGTGGCAGTTACCTTACTACTGGGTAGGAATCAAGCTGTAT c.540
M L P V Y K | W W Q L P Y Y W V G I K L Y p.180
. . . . . . g.82983
GATTTGGTTGCAGGAAGCAATTGCCTAAAAAGCAGTTATGTCCTCAGCAAATCAAGAGCC c.600
D L V A G S N C L K S S Y V L S K S R A p.200
. . . . . . g.83043
CTTGAACATTTCCCAATGCTCCAGAAGGACAAACTGGTAGGAGCAATTGTCTACTATGAC c.660
L E H F P M L Q K D K L V G A I V Y Y D p.220
| 07 . . . . . . g.119214
G | GACAACATAACGATGCACGGATGAACCTTGCCATTGCTCTGACTGCTGCCAGGTATGGG c.720
G | Q H N D A R M N L A I A L T A A R Y G p.240
. . . . . . g.119274
GCTGCCACAGCCAATTACATGGAGGTAGTGAGCTTGCTCAAGAAGACAGACCCCCAGACA c.780
A A T A N Y M E V V S L L K K T D P Q T p.260
. . . . | 08 . . g.120163
GGGAAAGTGCGTGTGAGCGGCGCACGGTGCAAGGATGTCCTCACAG | GGCAGGAATTTGAC c.840
G K V R V S G A R C K D V L T G | Q E F D p.280
. . . . . . g.120223
GTGAGAGCCAAATGTGTTATCAATGCCACGGGACCTTTCACGGACTCTGTGCGCAAAATG c.900
V R A K C V I N A T G P F T D S V R K M p.300
. . . . . . g.120283
GATGATAAAGACGCAGCAGCTATCTGCCAGCCAAGTGCTGGTGTCCATATTGTGATGCCT c.960
D D K D A A A I C Q P S A G V H I V M P p.320
. | 09 . . . . . g.126985
GGTTATTACAG | CCCAGAGAGCATGGGACTTCTTGACCCAGCGACCAGTGATGGGCGAGTT c.1020
G Y Y S | P E S M G L L D P A T S D G R V p.340
. . . . . . g.127045
ATTTTCTTCTTACCCTGGCAAAAGATGACGATCGCTGGCACTACTGATACTCCAACTGAT c.1080
I F F L P W Q K M T I A G T T D T P T D p.360
. . . . . . g.127105
GTTACACACCATCCAATTCCTTCAGAAGAAGATATCAACTTCATTTTGAATGAAGTGCGT c.1140
V T H H P I P S E E D I N F I L N E V R p.380
. . | 10 . . . . g.138407
AATTACCTGAGTTGTGATGTTGAAG | TGAGAAGAGGGGATGTCCTGGCAGCATGGAGTGGA c.1200
N Y L S C D V E V | R R G D V L A A W S G p.400
. . . . . . g.138467
ATCCGTCCTCTTGTTACAGACCCCAAATCTGCAGATACTCAGTCTATCTCCCGAAATCAT c.1260
I R P L V T D P K S A D T Q S I S R N H p.420
. . . . | 11 . . g.138930
GTTGTTGATATCAGTGAGAGTGGCCTTATTACTATAGCAG | GTGGAAAGTGGACAACTTAT c.1320
V V D I S E S G L I T I A G | G K W T T Y p.440
. . . . . . g.138990
CGGTCTATGGCAGAAGATACCATAAATGCTGCTGTCAAAACTCATAATTTAAAAGCAGGA c.1380
R S M A E D T I N A A V K T H N L K A G p.460
. . . . . . g.139050
CCAAGTAGAACAGTTGGGCTTTTCCTTCAAGGGGGTAAAGATTGGAGCCCCACACTCTAC c.1440
P S R T V G L F L Q G G K D W S P T L Y p.480
. . . | 12 . . . g.139658
ATTAGGCTTGTGCAGGATTATGGACTTGAAAGCGAG | GTGGCACAGCATCTTGCCGCCACC c.1500
I R L V Q D Y G L E S E | V A Q H L A A T p.500
. . . . . . g.139718
TATGGTGATAAGGCCTTTGAGGTGGCCAAAATGGCAAGTGTGACTGGCAAAAGGTGGCCT c.1560
Y G D K A F E V A K M A S V T G K R W P p.520
. . . . | 13 . g.140693
ATTGTTGGAGTACGTCTTGTGTCAGAATTTCCATATATTGAAGCAGAG | GTGAAATATGGG c.1620
I V G V R L V S E F P Y I E A E | V K Y G p.540
. . . . . . g.140753
ATTAAGGAGTATGCCTGCACTGCTGTGGATATGATTTCACGTCGTACTCGCCTGGCCTTT c.1680
I K E Y A C T A V D M I S R R T R L A F p.560
. . . . . . g.140813
CTAAATGTCCAGGCAGCAGAGGAAGCCCTACCCAGGATTGTTGAACTGATGGGCAGGGAA c.1740
L N V Q A A E E A L P R I V E L M G R E p.580
. . | 14. . . . g.148469
CTGAATTGGGATGATTATAAGAAGCAG | GAACAACTTGAAACAGCCAGGAAGTTTCTATAT c.1800
L N W D D Y K K Q | E Q L E T A R K F L Y p.600
. . . . . . g.148529
TATGAAATGGGCTATAAATCTCGATCAGAACAGTTAACAGATCGCTCTGAAATTAGCCTA c.1860
Y E M G Y K S R S E Q L T D R S E I S L p.620
. . | 15 . . . . g.148673
CTGCCTTCAGACATTGACAG | GTATAAGAAGAGATTTCATAAGTTTGATGCAGACCAGAAA c.1920
L P S D I D R | Y K K R F H K F D A D Q K p.640
. . . | 16 . . g.149258
GGCTTTATTACCATTGTTGATGTTCAGCGTGTATTAGAG | AGTATCAATGTCCAAATGGAT c.1980
G F I T I V D V Q R V L E | S I N V Q M D p.660
. . . . . . g.149318
GAAAATACACTCCATGAAATTCTAAATGAAGTTGATTTGAATAAAAATGGACAGGTTGAA c.2040
E N T L H E I L N E V D L N K N G Q V E p.680
. | 17 . . . . g.152382
CTCAATGAATTTTTGCAG | CTGATGAGTGCTATTCAAAAAGGAAGGGTATCTGGAAGCCGG c.2100
L N E F L Q | L M S A I Q K G R V S G S R p.700
. . . . . . g.152442
CTTGCTATACTAATGAAAACTGCAGAAGAGAACCTCGACAGAAGAGTTCCAATTCCAGTG c.2160
L A I L M K T A E E N L D R R V P I P V p.720
. . g.152466
GACCGTAGTTGTGGAGGATTGTGA c.2184
D R S C G G L X p.727
. . . . . . g.152526
gtctgggcagtaaatccacagccaacaaacatagaaacgacaaatcaccatgtaacaacc c.*60
. . . . . . g.152586
agagatgactgaaaccactctgaaataatgaatgtggatagctgccttttttaacactag c.*120
. . . . . . g.152646
aaaacattccaaaactttaaggtgttggtgtatttgccagctttatttgctgtactttat c.*180
. . . . . . g.152706
ttgtatttgccattcagtctagcttttaagtatatttttttctttttctcattttcaatg c.*240
. . . . . . g.152766
cacattagttttgcatctgttttgtgacctgttagatgtgacacattctctttttgttta c.*300
. . . . . . g.152826
ttcccttattctaaatgagttctaaaaacataatattttggcaaaaattgaaaaaagctg c.*360
. . . . . . g.152886
gagacattttgtgacatgcatacagatagcatgtgttattaaaaagagttgcctattgaa c.*420
. . . . . . g.152946
atgatcatgtttctggagaaattaagcttatagacagcatgtgttattaaaaagagttac c.*480
. . . . . . g.153006
ctattgaaatgatagtgtttctggagatttctcagccccatcttcctccagcttgtctac c.*540
. . . . . . g.153066
cttcctcatgcaaacaatattccacatttttatatctagagcatgactggctaactggag c.*600
. . . . . . g.153126
agggaaggaaaagtttagatctggttactggagcaagtctcaaagagaaactctgaaagc c.*660
. . . . . . g.153186
ttccagaatcacaggtataagataaggatagcattgacatttgctgggagttacagtgat c.*720
. . . . . . g.153246
agtttcatctcagcagttcatttttttcttcagtcactgctggttttctttgactattat c.*780
. . . . . . g.153306
agttgccaggaagatccttgctcttcttactttaaaaccagcatttaagtggcaatttgg c.*840
. . . . . . g.153366
atgtaataggatgagaccaaatttatctaattattacagtagtaatacatttaagagtta c.*900
. . . . . . g.153426
aaaatgtgtttttatatatccacatatgataacaaaagattcaattcccaagcctaaatt c.*960
. . . . . . g.153486
ttgaagcatgtggtattgtcaaatctagcttaccatcttttttgggggtacttgcaacca c.*1020
. . . . . . g.153546
tagtaaaggaagatggaatagactttagttaactttaattataattatatgttaaataag c.*1080
. . . . . . g.153606
gcacataaccagtttccaaggtcatcatggttgcttaaagtctttccccttctgtactcc c.*1140
. . . . . . g.153666
atggaaatattctcagtaaaccaaaaacaaaaatggaaaaataatcaccaacccccatcc c.*1200
. . . . . . g.153726
cgacacacacacagagtccaaagcaaaagtcagtgtgtattgaatttaacaagtaatgca c.*1260
. . . . . . g.153786
gtttgggatgcttttgctacattttggtggcattttaactagttatctgaatatttatta c.*1320
. . . . . . g.153846
atcgtacttcctcttgtaaagttaactacttacttttttgttgttgtttttttaacatca c.*1380
. . . . . . g.153906
ggttctgtatctaataggagatgtaacactttatttcatggcaggtttttattgcagaga c.*1440
. . . . . . g.153966
cttgaagtcttagttttttaaactggcacataaaacactttttgctgttatttttattta c.*1500
. . . . . . g.154026
tgtcaatactgcagagtatctttatgccttattcaagtggattctgagcctgtatgtcac c.*1560
. . . . . . g.154086
aatgtaaacactggaggttcactcacctacgcactcacccaccacctctgaaagaaacag c.*1620
. . . . . . g.154146
aaactgcagagaaagacagcatcttagctcattttgtttttaaatgaggttttagacgct c.*1680
. . . . . . g.154206
tgccacttcctaagggaaatcctaaaacagagcaagtgatgctcccaggtatcactgtga c.*1740
. . . . . . g.154266
acttttttctttcaaagtgtgaatttttacactggctttttcatttttttaaagtaattg c.*1800
. . . . . . g.154326
aagcttgtggctttacaacttagtgttttttgctatccagataacaagtttcattgttta c.*1860
. . . . . . g.154386
gaacccagtgacacttaataggtagataaattgtcctttaaaatatcccagatgatatac c.*1920
. . . . . . g.154446
acaatatggtacatttgtgctctctctctctgtttttctctctttctctttctagttaga c.*1980
. . . . . . g.154506
tcaagataacgatgacttgtaccctccctgattctgttacagtagggcccgggcagatct c.*2040
. . . . . . g.154566
gtgtttgttaaacaggccttgtttgtgcatgctttgctatgaatgaagttcctttaagga c.*2100
. . . . . . g.154626
caaagaaaagcacacttttcttcttttgagcatatctgcttttactttaaatctgctaat c.*2160
. . . . . . g.154686
ttctaaaatgtagagtccttcaccaatcccagagactcaatttggaaatgaactgatttc c.*2220
. . . . . . g.154746
aagccgttactgtgaataaagcaccccagcattttgtataagctcttaattaaacctgta c.*2280
. . . . . . g.154806
cagcttctttacctgatttaagaaagggagacaagcaataggggggaataagcttcttca c.*2340
. . . . . . g.154866
aaattcattccaagcacaaaagaaattttttccctttgcatataaacttgacatcagttg c.*2400
. . . . . . g.154926
attctgttggggtcggggtgggtatgcagggattgccttttattatcaagtgatttattt c.*2460
. . . . . . g.154986
caagagcctttgaggggattcaggtgaaggaacccccatctgtgctggagagttggatac c.*2520
. . . . . . g.155046
tcctttaaatagcccccaccacagtcataacaataatgataatgctggattatttgttaa c.*2580
. . . . . . g.155106
gccaaggttgtctgcctcatatccatcatgctgtttgcaatattcttgctttcaatcaat c.*2640
. . . . . . g.155166
ttatactgagtgtaactttaggatttctgctattaaatgcatgctctctatcctgcttca c.*2700
. . . . . . g.155226
gtttctggctttgctttgtctgtttcaaaatatgtagcttcctcttttgtacaacaaaaa c.*2760
. . . . . . g.155286
actcattctcacttttactaaatatactgtaggagtcatcattgatgttatttttctctt c.*2820
. . . . . . g.155346
atgtatctgtaaagatttttggcatatgaatgtaatattaaagtcaatgatgctataact c.*2880
. . . . . . g.155406
tgcgatgtttgcatcatgtcaacctttttgaaggagtgaaaaagccctactatgttttta c.*2940
. . . . . . g.155466
aatagcaagtgtaagctcagtgctagagtggatatacacaccgcatgttttcatatgtgg c.*3000
. . . . . . g.155526
cacttttatgtatcatgttgggttattgttctagactggactgttaaatactatgtttga c.*3060
. . . . . . g.155586
ggctgggttgtcatttttataactgtcttggtgttttatggccattatttattacttttg c.*3120
. . . . . . g.155646
atacacagaatgagctgcatgcatttatagagcaataagaggatgtatttaatgtgcctt c.*3180
. . . . . . g.155706
gtttttaactgaataagaactggaagcatgaatcaataaaactgattaaaatggtctatt c.*3240
. . . . . . g.155766
tgctagcattttgatgttacttgcagtcagataactttgattactgttgaagtttaaaaa c.*3300
. . . . . . g.155826
aagtttgaaaatatttttacaaactgtgtttttgatgacacaaaagtgaaatatctacag c.*3360
. . . . . . g.155886
agatagatgtaattttataagactgccagaattatttgtattaatttgttgctgtagcct c.*3420
. . . . . . g.155946
ttagggcatgacttctgtatttgtgcaatcctattctacaattacattcatcctattaca c.*3480
g.155951
actca c.*3485
(downstream sequence)
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