(used for variant description)
(last modified November 16, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_024884.2 in the L2HGDH gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008092.1, covering L2HGDH transcript NM_024884.2.
(upstream sequence)
. g.5019
gctaaagagcgcgggtcct c.-61
. . . . . . g.5079
cggccgtggagggtcaagtggcttcttctgagcgctgagggaggggagcgtgcgtagggg c.-1
. . . . . . g.5139
ATGGTGCCAGCGCTGCGTTATTTGGTTGGTGCCTGCGGACGGGCCCGCGGGCTTTTCGCC c.60
M V P A L R Y L V G A C G R A R G L F A p.20
. . . . . . g.5199
GGTGGCTCCCCTGGGGCGTGCGGGTTCGCGTCTGGGAGGCCAAGACCGCTGTGTGGAGGT c.120
G G S P G A C G F A S G R P R P L C G G p.40
. . | 02 . . . . g.14252
AGCCGCAGCGCCAGCACCAG | CTCATTTGATATAGTCATCGTTGGTGGCGGAATTGTGGGG c.180
S R S A S T S | S F D I V I V G G G I V G p.60
. . . . . . g.14312
CTTGCCTCTGCCAGAGCACTCATCCTGCGACATCCATCACTTTCTATTGGTGTTCTGGAA c.240
L A S A R A L I L R H P S L S I G V L E p.80
. | 03 . . . . . g.15105
AAGGAGAAAGATTTAG | CTGTTCACCAGACTGGACATAACAGTGGTGTCATACATAGTGGA c.300
K E K D L A | V H Q T G H N S G V I H S G p.100
. . . . . . g.15165
ATTTATTATAAACCTGAGTCTCTGAAAGCCAAATTATGTGTACAAGGTGCAGCCCTCCTC c.360
I Y Y K P E S L K A K L C V Q G A A L L p.120
. . . . | 04 . g.22995
TATGAGTACTGTCAGCAAAAGGGAATTTCCTACAAGCAGTGTGGCAAG | CTTATAGTAGCT c.420
Y E Y C Q Q K G I S Y K Q C G K | L I V A p.140
. . . . . . g.23055
GTTGAACAAGAAGAAATTCCCAGACTTCAGGCCCTATATGAGAAAGGCCTCCAGAATGGT c.480
V E Q E E I P R L Q A L Y E K G L Q N G p.160
. . . . . . g.23115
GTCCCGGGCCTGAGGCTGATCCAGCAGGAGGATATAAAAAAGAAGGAGCCATATTGTAGG c.540
V P G L R L I Q Q E D I K K K E P Y C R p.180
| 05 . . . . . . g.33256
| GGTCTAATGGCTATTGATTGTCCACATACTGGCATTGTGGACTATCGGCAGGTGGCTTTG c.600
| G L M A I D C P H T G I V D Y R Q V A L p.200
. . . . . . g.33316
TCATTTGCCCAGGATTTCCAAGAAGCAGGTGGCTCTGTCTTGACCAATTTTGAAGTAAAA c.660
S F A Q D F Q E A G G S V L T N F E V K p.220
. . . . | 06 . . g.38692
GGTATTGAAATGGCTAAAGAAAGTCCTTCAAGAAGTATAGATG | GAATGCAATATCCAATT c.720
G I E M A K E S P S R S I D G | M Q Y P I p.240
. | 07 . . . . g.47941
GTTATAAAGAATACAAAG | GGAGAGGAAATTCGATGTCAGTATGTTGTGACATGTGCAGGA c.780
V I K N T K | G E E I R C Q Y V V T C A G p.260
. . . . . . g.48001
CTTTACTCAGACCGTATTTCAGAGTTGAGTGGCTGCACTCCTGATCCTCGAATTGTACCA c.840
L Y S D R I S E L S G C T P D P R I V P p.280
. . . . . . g.48061
TTCCGGGGAGATTACCTGCTTTTGAAGCCAGAAAAATGTTATCTTGTAAAAGGAAATATT c.900
F R G D Y L L L K P E K C Y L V K G N I p.300
| 08 . . . . . . g.49373
TATCCG | GTCCCAGATAGCCGGTTTCCTTTCCTAGGAGTTCACTTCACACCAAGGATGGAT c.960
Y P | V P D S R F P F L G V H F T P R M D p.320
. . . . . . g.49433
GGCAGTATTTGGCTAGGGCCTAATGCAGTTCTTGCCTTTAAACGAGAGGGTTACAGACCC c.1020
G S I W L G P N A V L A F K R E G Y R P p.340
. . . . | 09 . . g.51756
TTTGACTTCAGTGCCACAGATGTTATGGATATAATTATCAATAG | TGGCTTGATTAAACTG c.1080
F D F S A T D V M D I I I N S | G L I K L p.360
. . . . . . g.51816
GCATCCCAGAATTTTTCCTATGGAGTTACTGAAATGTATAAAGCATGTTTTCTTGGTGCA c.1140
A S Q N F S Y G V T E M Y K A C F L G A p.380
. . . . . | 10 . g.69980
ACAGTGAAGTATCTTCAAAAATTCATCCCTGAAATTACTATCAGTGATATACTTAG | GGGC c.1200
T V K Y L Q K F I P E I T I S D I L R | G p.400
. . . . . . g.70040
CCAGCTGGAGTAAGAGCCCAGGCCCTGGATAGAGATGGAAATCTGGTAGAAGATTTTGTA c.1260
P A G V R A Q A L D R D G N L V E D F V p.420
. . . . . . g.70100
TTTGATGCAGGAGTTGGGGATATTGGAAATCGCATTCTTCATGTGAGAAATGCACCTTCT c.1320
F D A G V G D I G N R I L H V R N A P S p.440
. . . . . . g.70160
CCTGCTGCTACTTCTTCCATTGCAATTTCTGGAATGATTGCAGATGAAGTACAACAAAGA c.1380
P A A T S S I A I S G M I A D E V Q Q R p.460
. g.70172
TTTGAATTATAA c.1392
F E L X p.463
. . . . . . g.70232
ataatgaaaggagctaggtatgcactgtaatcttcatgtcagcaacaagaatgtactaat c.*60
. . . . . . g.70292
tgcattctttaatttaaaaaatggtttttaaactttagtttttaggtcaaagataaccac c.*120
. . . . . . g.70352
tgcattgttaaaatgatgtaacatagaaataataattttctacaaaaattagccaggcat c.*180
. . . . . . g.70412
ggtggcgcatgcctgtaatctcagctactcaggaggctgaggcaggagaatcaattgaac c.*240
. . . . . . g.70472
cgagcagacggaggtgagctgagagctgagattgcaccactgcactccagcctgggtgac c.*300
. . . . . . g.70532
agagcaagaaaataataataataataattttcaaaatgttaggctgggggccgtggccag c.*360
. . . . . . g.70592
cactttgggaagccaaggcaggtagattgtagcccaggagtttgagaacagcctgggcaa c.*420
. . . . . . g.70652
catggcaaaaccctgtttctacacaaagttagctgggtctggtgcctctgtagttccagc c.*480
. . . . . . g.70712
tcctcagtaggctgaggtgagaggatcacttgagcccaggaggtctaggctgcagtgagc c.*540
. . . . . . g.70772
ttatgttcatgacactgcattccaggctggatgatagagcaagatcttgtctcaaaaaaa c.*600
. . . . . . g.70832
aaaaaaaaaaaaaaaaaaatccagcctgggcaacatagtgaatgaaaccccatctctaca c.*660
. . . . . . g.70892
aaaaatacaaaaattagctgggcatgatggtgtgtgcctgtagtcccagctacttggggg c.*720
. . . . . . g.70952
ctgaggcaggaggatcgcttgagcccgggagatcaaggctacagtgagctgtgttcatgc c.*780
. . . . . . g.71012
cactataccccagcctgggcaacaaagtgagtccctgactcaaaaaataaaaacaacaac c.*840
. . . . . . g.71072
aaaaaataaattccatgcttatttactttgcgaataaagaggcaaggtacagttttatct c.*900
. . . . . . g.71132
gtccgaatccctgacttttatttattttttttttcagacggagtttcactcttgttgccc c.*960
. . . . . . g.71192
aggcttgagtgcaatggtacgatcttggctcactgcaacctctgcctcccgggttccagc c.*1020
. . . . . . g.71252
gattctcttgcctcaacctcctgagtagctgggattacaggcgcccaccaccatgcctgg c.*1080
. . . . . . g.71312
ctaattttttgtatttttagtagagacggggttttgccatgttggccaggctggtctcga c.*1140
. . . . . . g.71372
attcctgacctcaggtgatccacctgcctcagcctcccaaaatgctgggattacaggtgc c.*1200
. . . . . . g.71432
gagccatcatgctcagccctgaatccctgactttgttaatgacctgtccttaccaaccat c.*1260
. . . . . . g.71492
gacctagagaagatttggctttttaagagttttggagaaagatggcataaaaatagatta c.*1320
. . . . . . g.71552
tttccttaaatcaattttttagcattacgctacctaagctcgtttggtctctcatagaca c.*1380
. . . . . . g.71612
agaaaatacattatattgtaggttacattcttttaattttgaagagtcacaaaactcaca c.*1440
. . . . . . g.71672
ttatttagagcaacaatatttgtatttggaaattaaaaattcatgatttcaagaaaatac c.*1500
. . . . . . g.71732
ataaaatttacatttttgagtagtttgaataagtttctatcttaattataatatttgtag c.*1560
. . . . . . g.71792
gaaataacaaaacaaactcaaagcctttattatttccagtctctttgtaactgatgtggt c.*1620
. . . . . . g.71852
atggtatcatcatgaaatctaaacagtggtacactgagtggttgtcctgttcttcaatct c.*1680
. . . . . . g.71912
ctgtggctgagaactgaaataacttagaagagacagatttttatgagagcagttttagaa c.*1740
. . . . . . g.71972
tcctgacactgatgtatagaactccaatttaaaaaagttatttatctattatatctctga c.*1800
. . . . . . g.72032
tctttagtcacactaaggctctcaaaatgttggccaagattggtaatgattcatacgtac c.*1860
. . . . . . g.72092
ttgatttttcagggctcctataaacttgtatagggatatttttccatttttgataaatat c.*1920
. . . . . . g.72152
ctaactttgaggcattcacttttgtaaaccgcgaaagtgccttacattcacctcatgagt c.*1980
. . . . . . g.72212
attttaagttgatgcccagtgctgtggtatatcctgtatatatgtgttttgtggtatcta c.*2040
. . . . . . g.72272
tcgaaattattcttataatttagaaagttagaaaatagaaattgtaaatgaaaatgtggc c.*2100
. . . . . . g.72332
gacctgactgcagaactttgagtactgaaccacatttaggtgaggcattttcatccattc c.*2160
. . . . . . g.72392
tctctgatttgctctctcaggattcatcttctactgtgtatgtcttctttcctcttagct c.*2220
. . . . . . g.72452
ctccaaagctgtatgatggatgggtgagaaggatgtgcattttggttgataggaaaaatg c.*2280
. . . . . . g.72512
tttctgttttcttccttttcccctcacttcaagcattgatgattacattgattgagctac c.*2340
. . . . . . g.72572
ctcatccattaatttgaaaggctacacttcatcagctcatgtttaagaagtagcacatcc c.*2400
. . . . . . g.72632
caggtaaacagagtaggccattattcaactcttaggatgagtatattaaaagcattcaga c.*2460
. . . . . . g.72692
tatcaatgacagaagaaacaagccctaatgtttctttataacagctgattcctgcaagaa c.*2520
. . . . . . g.72752
atgcaaacacaggatatttttctgttccattacaagattactaagagatggaaaatatta c.*2580
. . . . . . g.72812
tcattctgtattttgtcagtagtacgattgcatacatactaagttgtaaacattgaatta c.*2640
. . . . . . g.72872
caaaaaatgattgtcctaattgaagcagtcctcaatccatttgagtctgtacaataccct c.*2700
. . . . . . g.72932
gaaaaggaaacaacaggtgctggagaggatgtggagaaataggaacacttttacactgtt c.*2760
. . . . . . g.72992
ggtgggactgtaaactagttcaaccattgtggaagtcagtgtggcgattcctcagggatc c.*2820
. . . . . . g.73052
tggaactagaaataccatttgacccagccatcccattactgggtatatacccaagggact c.*2880
. . . . . . g.73112
ataaatcatgctgctataaagacacatgcacacgtatgtttattgtggcactattcacaa c.*2940
. . . . . . g.73172
tagtaaagacttggaaccaacccaaatgtccaacaacgatagactggattaagaaaatgt c.*3000
. . . . . . g.73232
ggcacatatacaccatggaatactatgcagccataaaaaatgatgagttcatgtcctttg c.*3060
. . . . . . g.73292
tagggacatggatgaaattggaaatcatcattctcagtaaactatcgcaagaacaaaaaa c.*3120
. . . . . . g.73352
ccaaacaccgcatgttctcactcatagatgggaattgaacaatgagaacacatggacaca c.*3180
. . . . . . g.73412
ggaaggggaacatcacactctggggactgttgtggggtggggggaggggggagggatagc c.*3240
. . . . . . g.73472
attaggagatatacctaatgctaaatgacgagttaatgggtgcagcacaccagcacggca c.*3300
. . . . . . g.73532
catgtatacatatgtaactaacctgcacattgtgcacatgtaccctaaaacttaaagtat c.*3360
. . . . . . g.73592
aataataaacaatatatatatatatatatatataaaataccctgaaaaataaaaatgaaa c.*3420
. . . . . . g.73652
aatttgttgaaagtgttttgaatatgtaggttattctgcttgtaaaacgttttatatgta c.*3480
. . . . . . g.73712
tgtcaatagggtttttttgtttaatactgatataataaagttttatgtatttctgacaga c.*3540
. . . . . . g.73772
agaaatgtatattaatatttaaaatattttaatgagccttggtgttgtagagaacatatt c.*3600
. . . . . . g.73832
ttttagttccataaaaacttttatgcaaataaatttttttatgtgtaaaacataaactgt c.*3660
. . . . . . g.73892
ttgctttagatagatagcagccaacctttttaaaaaactcatttctgtgttagtatataa c.*3720
. . . . . . g.73952
tacaaaatgaggttgagtcatttatattttgggtaaaaagtggagcattttagattttaa c.*3780
. . . . . . g.74012
cttcagagtgtttgtgaggaactcttgatgtaccagcaagtatatttttggtgtttcatg c.*3840
. . . . . . g.74072
ttacgtagcttaactcttttatccatacatatatgtgtatatcaaagtccttcccttgat c.*3900
. . . . . . g.74132
cctctcagcattagcactgtttggggagttgcctttactgttggcagaattccactttcc c.*3960
. . . . . . g.74192
ctgaggccatttggaaatctacctagtagcctgtgggataaccttaactcttagaacttt c.*4020
. . . . . . g.74252
cttcaaaggatggtggtgagaatggggtatactgccaggccctggcctacgggagtttgt c.*4080
. . . . . . g.74312
agggcctacttttggaggcaatccaaccctgatggctgtacctatgagctatccctgtaa c.*4140
. . . . . . g.74372
acacaggagacatggtgtctatattgtttaaggactggctctgccctcctgggcccttaa c.*4200
. . . . . . g.74432
tctgtgtctagacttcttggtcagaggtttcctcatctttctgcgcatacactattatct c.*4260
. . . . . . g.74492
aaagatcttgtaaacatttttgagttgtaatcgtaaagtcagtttctaagcttttctaac c.*4320
. . . . . . g.74552
acactcaaagggagtttttgaaatctcttcatcagggcttaaggtagaaggacagggtga c.*4380
. . . . . . g.74612
aatggttgggaaagcaaaagctgcctcgagatgttttcaaatagtttgtactcattaaat c.*4440
. . . . . . g.74672
agcttaagaatggaaataaaccctgaagccctgaagggaagaacagtgttgataccaacc c.*4500
. . . . . . g.74732
aactctacttttctggcctcaaatcctagaaagtattgtgggtttgttgttgttgttgat c.*4560
. . . . . . g.74792
gttgttaattgcttgtattttctgcttatgggaaggatctcacattaaagttatcttatt c.*4620
g.74796
ttaa c.*4624
(downstream sequence)
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