(used for variant description)
(last modified October 13, 2013)
This file was created to facilitate the description of sequence variants on transcript NM_145649.4 in the GCNT2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_007469.2, covering GCNT2 transcript NM_145649.4.
(upstream sequence)
. g.5011
aaactgcgttt c.-541
. . . . . . g.5071
accttaaacaggcttactgtgttcactgctggacgcctctgggcaatcttaccctcctgg c.-481
. . | 02 . . . . g.11187
gaactgagagag | acaatgctaggagccagaaacatgaggaatacatgagctcggcgccaa c.-421
. . . . . . g.11247
tggaacatgctttcacaccgggtgcagctaaccaccacatcatacaaaactcgtcgctga c.-361
. . . . . . g.11307
cgttttagatgtataatctgattggcatggactcacagaggagggagtaagggaagagta c.-301
. . | 03 . . . g.12337
agaagatttcaaaggagag | acacaggttgcaggttagcaggagaacaggcaagccaaatg c.-241
. . . . . . g.12397
caaaggagccacttcagaaatgtgtcacagaaaagtgaaaatgcaacctagtggtaagtg c.-181
. . . . . . g.12457
aagaggggaagaagaaagaaaaaggaccagaaccgtgaactgaagggacagggaacagcc c.-121
. . . . . . g.12517
agacgagagcttcagccatcacgaggatgatttcggaacctggagaaaatgtaagttaaa c.-61
. . . . . . g.12577
tatatctacactctgatcctatctcaagagagagatattttactcatttcctggttgtga c.-1
. . . . . . g.12637
ATGATGGGCTCTTGGAAGCACTGTCTTTTTAGCGCGTCTCTTATCTCTGCCCTGATTTTT c.60
M M G S W K H C L F S A S L I S A L I F p.20
. . . . . . g.12697
GTATTTGTTTACAATACTGAGTTATGGGAGAATAAACGTTTTCTGAGGGCAGCTCTGTCC c.120
V F V Y N T E L W E N K R F L R A A L S p.40
. . . . . . g.12757
AATGCTTCACTGTTAGCAGAAGCCTGTCATCAGATTTTTGAGGGGAAAGTTTTTTACCCA c.180
N A S L L A E A C H Q I F E G K V F Y P p.60
. . . . . . g.12817
ACAGAAAATGCATTGAAAACTACCCTTGATGAAGCTACCTGCTATGAGTACATGGTTCGA c.240
T E N A L K T T L D E A T C Y E Y M V R p.80
. . . . . . g.12877
AGCCACTATGTAACAGAAACACTCTCTGAAGAAGAGGCTGGGTTCCCTTTAGCTTACACA c.300
S H Y V T E T L S E E E A G F P L A Y T p.100
. . . . . . g.12937
GTGACCATCCACAAAGACTTCGGCACTTTTGAGAGGCTCTTCAGGGCGATTTATATGCCC c.360
V T I H K D F G T F E R L F R A I Y M P p.120
. . . . . . g.12997
CAAAATGTCTACTGTGTGCACCTGGATCAGAAGGCGACGGATGCCTTTAAAGGTGCAGTG c.420
Q N V Y C V H L D Q K A T D A F K G A V p.140
. . . . . . g.13057
AAACAGTTACTCAGCTGCTTCCCAAATGCTTTTCTGGCTTCCAAGAAGGAGTCGGTTGTC c.480
K Q L L S C F P N A F L A S K K E S V V p.160
. . . . . . g.13117
TATGGGGGGATCTCCAGGCTCCAGGCTGACCTGAACTGCCTGGAAGACCTTGTGGCCTCT c.540
Y G G I S R L Q A D L N C L E D L V A S p.180
. . . . . . g.13177
GAAGTTCCCTGGAAGTATGTCATCAACACCTGCGGGCAAGACTTTCCCCTGAAAACCAAC c.600
E V P W K Y V I N T C G Q D F P L K T N p.200
. . . . . . g.13237
AGGGAAATAGTTCAGTATCTGAAGGGATTTAAAGGGAAAAATATCACCCCCGGAGTGCTG c.660
R E I V Q Y L K G F K G K N I T P G V L p.220
. . . . . . g.13297
CCTCCTGACCACGCTGTTGGACGGACTAAATACGTCCACCAAGAACTGTTAAACCACAAA c.720
P P D H A V G R T K Y V H Q E L L N H K p.240
. . . . . . g.13357
AATTCCTACGTGATTAAAACAACAAAATTAAAAACTCCTCCTCCTCATGACATGGTGATT c.780
N S Y V I K T T K L K T P P P H D M V I p.260
. . . . . . g.13417
TACTTTGGCACGGCCTACGTGGCTCTCACAAGGGACTTTGCTAACTTCGTCCTCCAAGAC c.840
Y F G T A Y V A L T R D F A N F V L Q D p.280
. . . . . . g.13477
CAGCTCGCACTTGACTTACTCTCCTGGTCCAAGGACACCTACAGCCCCGACGAACATTTC c.900
Q L A L D L L S W S K D T Y S P D E H F p.300
. . | 04 . . . . g.105051
TGGGTGACACTCAACAGGATTCCCG | GTGTTCCTGGCTCTATGCCAAATGCATCCTGGACT c.960
W V T L N R I P G | V P G S M P N A S W T p.320
. . . . . | 05 g.110084
GGAAACCTCAGAGCTATAAAGTGGAGTGACATGGAAGACAGACACGGAGGCTGCCACG | GC c.1020
G N L R A I K W S D M E D R H G G C H G | p.340
. . . . . . g.110144
CACTATGTACATGGTATTTGTATCTATGGAAACGGAGACTTAAAGTGGCTGGTTAATTCA c.1080
H Y V H G I C I Y G N G D L K W L V N S p.360
. . . . . . g.110204
CCAAGCCTGTTTGCTAACAAGTTTGAGCTTAATACCTACCCCCTTACTGTGGAATGCCTA c.1140
P S L F A N K F E L N T Y P L T V E C L p.380
. . . . . . g.110264
GAACTGAGGCATCGCGAAAGAACCCTCAATCAGAGTGAAACTGCGATACAACCCAGCTGG c.1200
E L R H R E R T L N Q S E T A I Q P S W p.400
g.110273
TATTTTTGA c.1209
Y F X p.402
. . . . . . g.110333
gctattcatgagctactcatgactgaagggaaactgcagctgggaagaggagcctgtttt c.*60
. . . . . . g.110393
tgtgagagacttttgccttcgtaatgttaaccgtttcaggaccacgtttatagcttcagg c.*120
. . . . . . g.110453
acctggctacgtaattatacttaaaatatccactggacactgtgaaatacactaacagga c.*180
. . . . . . g.110513
tggctgggtagagcaatctgggcactttggccaattttagtcttgctgtttcttgatgct c.*240
. . . . . . g.110573
cacctctatattagtttattgttaggatcaatgataaatttaaatgacctcagatctttg c.*300
. . . . . . g.110633
caccagatactcatcatatacaaatgttttagtaaaaaagagaattgtagataatactgt c.*360
. . . . . . g.110693
ctaggaaaataagaattaggtttctttgaagaaggaatcttttataacaccttaacagtc c.*420
. . . . . . g.110753
accactgtgctcaaccagacagatagtgaaacagctttctgggtaattcaccaatttcct c.*480
. . . . . . g.110813
ttaaaacataagctacctgaatggagaatacatcttgtttctgagtttcaacactagcat c.*540
. . . . . . g.110873
ttttggcttactcatggacaaagttctgtatatagtataaagtcattaacaagaaacagg c.*600
. . . . . . g.110933
atatgctttaagacagaattcactgtctgttgcttcagtaaaaggacctcggggaataaa c.*660
. . . . . . g.110993
acatttctctcttatatgccagaatgtaggctggtccctatgtcatgtcttccattaaga c.*720
. . . . . . g.111053
acactaaaaagtccttgcaagaatggagatatgcattcaagagaggtgctatcacataga c.*780
. . . . . . g.111113
tctagtctgaagtctggaacactttcctcttctatgacccctctctccccagtattatct c.*840
. . . . . . g.111173
tacttgcaaaatggagaccaaattctatcctgtgaggcttttaattgcaccatagtatgc c.*900
. . . . . . g.111233
tctgagtagctttacactgcctggtactgatagtagtggctcgatttttaagagccttca c.*960
. . . . . . g.111293
attgtagatgaacatctctgttatttatccctcattcatccatccgttcattcattcagc c.*1020
. . . . . . g.111353
cttcaatcaacatctcttgagtgtctattatgtacaggacatgtactgagacaaaaagga c.*1080
. . . . . . g.111413
aacataagagctttttcactctaaaaatcttggcaataatgtcaacaccagaaagcctcc c.*1140
. . . . . . g.111473
tctggagaatcttacagagtgattgtagtttaatacaggaacacacagggctgtgtagca c.*1200
. . . . . . g.111533
tgataccaggcccaggagatcagtaattacaaattaagggttaaatcagagattattcaa c.*1260
. . . . . . g.111593
cagagagggagaaaggaggagacagagggaggacctgttgtgttccagccattctggtat c.*1320
. . . . . . g.111653
tcctttatgtatctaatttcattcaaacctcacaacagtcttgtgaggcccttatataat c.*1380
. . . . . . g.111713
tactcccattttgcagatgaagtaactgaggcttagaaaggttaatagcaccggggaaca c.*1440
. . . . . . g.111773
atttctctgggtgagaattgggactctgttgctggtcttctcagttcatttcctgaggtg c.*1500
. . . . . . g.111833
gatttactgagagaaggtgaaataaagccatatttagtataccagagaaggtagatttta c.*1560
. . . . . . g.111893
agaatggtctcagtgttaatactgagaaaaagtcctgtcagttcagaaaaaatgtgaagt c.*1620
. . . . . . g.111953
ctactttagtattcctgtaatactaaaccgttgagtttctaaatatttatttattctaac c.*1680
. . . . . . g.112013
aaaaagcaattactacaaatggatgacacatttaatgaacacaattttattttttttctg c.*1740
. . . . . . g.112073
taactgtgcttgttgaatgtcaatcatatttaaagggaatgactttgaagtaaaaccttt c.*1800
. . . . . . g.112133
tttcttgctactgaaaaaaatggagttgttttgggtggtaaagtgttaaggaatagggac c.*1860
. . . . . . g.112193
agctggtcacacaaggaactcttgaaggccacatgtgaaaacctgtcacttgcacagagg c.*1920
. . . . . . g.112253
ccagtcccactaaggtgaccagagtgggctccaagcacaaactgccattggctatagatg c.*1980
. . . . . . g.112313
ggactgtgtccccccaaaattcatgtgttggagccttaaccctcaatgtgatggtatttg c.*2040
. . . . . . g.112373
agatggggcctttggtaagggaagtttagatgaggtcacgagggtaggaccctcatgatg c.*2100
. . . . . . g.112433
ggatgagtccccttacaagacctctggcttgggccgggcgtggtggctcacacctgtaat c.*2160
. . . . . . g.112493
cccaacactttgggaggccaaggcaggtagatcacttgatgccaggagttccagaccagg c.*2220
. . . . . . g.112553
ctggccgacatggtgaaaccccatctctactaaaaaatataaaaattagccgggctttgt c.*2280
. . . . . . g.112613
ggcatgtgcctgtaatcccagctatttggcaggctgaggcatgagaatcgcttgaaccca c.*2340
. . . . . . g.112673
ggaggtggaggttacagtgagctgagagtgccccactgcactccagcctgggtgacagag c.*2400
. . . . . . g.112733
cgagactttgtcccaaaacaaaataggtgaggggatagcgaatgcactcagggtcagcag c.*2460
. . . . . . g.112793
tggagtttaaaaattgtctcttttcaacttatttaaatgacagcacctgagaagaggaac c.*2520
. . . . . . g.112853
cgttttacactggatgtttctcatgtagaacaagaaatctttctggaattgatgtttaca c.*2580
. . . . . . g.112913
tgtctgttgttggtcatctctcctgtgtcttaaatactttaatgttggaagagcatagtg c.*2640
. . . . . . g.112973
tttgggctagtgggtttctgacagcccatgggaatgccctgaaactactgtatctgatgt c.*2700
. . . . . . g.113033
ttgttttcgatgaggttccatgttttgttttcttgggaataaattaatatattgttttcc c.*2760
g.113034
a c.*2761
(downstream sequence)
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