(used for variant description)
(last modified May 16, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_000098.2 in the CPT2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008035.1, covering CPT2 transcript NM_000098.2.
(upstream sequence)
. . . g.5035
ctcatatctagaattttgggaggtactttgaatca c.-481
. . . . . . g.5095
ttacgatctatctacttcttaggtgaggaaatagaggtttaaaatttagtccacagtctc c.-421
. . . . . . g.5155
gcaaggatggagcctggatcaaattttgggttatcagattccaatcacgtttcttagctt c.-361
. . . . . . g.5215
ttcttttttttttccaactccagtttctgtcttgctccaaaaaaggggaaggagcggctg c.-301
. . . . . . g.5275
cggcgctcggtttcccgcctcctagggaagggaagggagacgagcagcgcggaggctggg c.-241
. . . . . . g.5335
gcccccttccgggcggggcctactagtgggcggggcctgtcagtgagcggcccctgcccg c.-181
. . . . . . g.5395
gaaggagccagtccggggcggagccgatggccttacaggggccggaagtggcctgcgggc c.-121
. . . . . . g.5455
ggagaagtgcctcaggagtcctgacgcagtgtcttgggcgctaacggcggcggcggcctt c.-61
. . . . . . g.5515
gtgtttagactccagaactccccacttgccgcgttctcgccgccgcaggctcccgggacg c.-1
. . . . . . g.5575
ATGGTGCCCCGCCTGCTGCTGCGCGCCTGGCCCCGGGGCCCCGCGGTTGGTCCGGGAGCC c.60
M V P R L L L R A W P R G P A V G P G A p.20
. . . . . . g.5635
CCCAGTCGGCCCCTCAGCGCCGGCTCCGGGCCCGGCCAGTACCTGCAGCGCAGCATCGTG c.120
P S R P L S A G S G P G Q Y L Q R S I V p.40
. . . | 02 . . . g.9318
CCCACCATGCACTACCAGGACAGCCTGCCCAG | GCTGCCTATTCCCAAACTTGAAGACACC c.180
P T M H Y Q D S L P R | L P I P K L E D T p.60
. . . . . | 03 . g.10901
ATTAGGAGATACCTCAGTGCACAGAAGCCTCTCTTGAATGATGGCCAGTTCAG | GAAAACA c.240
I R R Y L S A Q K P L L N D G Q F R | K T p.80
. . . . . . g.10961
GAACAATTTTGCAAGAGTTTTGAAAATGGGATTGGAAAAGAACTGCATGAGCAGCTGGTT c.300
E Q F C K S F E N G I G K E L H E Q L V p.100
. . . . | 04 . . g.18606
GCTCTGGACAAACAGAATAAACATACAAGCTACATTTCGG | GACCCTGGTTTGATATGTAC c.360
A L D K Q N K H T S Y I S G | P W F D M Y p.120
. . . . . . g.18666
CTATCTGCTCGAGACTCCGTTGTTCTGAACTTTAATCCATTTATGGCTTTCAATCCTGAC c.420
L S A R D S V V L N F N P F M A F N P D p.140
. . . . . . g.18726
CCAAAATCTGAGTATAATGACCAGCTCACCCGGGCAACCAACATGACTGTTTCTGCCATC c.480
P K S E Y N D Q L T R A T N M T V S A I p.160
. . . . . . g.18786
CGGTTTCTGAAGACACTCCGGGCTGGCCTTCTGGAGCCAGAAGTGTTCCACTTGAACCCT c.540
R F L K T L R A G L L E P E V F H L N P p.180
. . . . . . g.18846
GCAAAAAGTGACACTATCACCTTCAAGAGACTCATACGCTTTGTGCCTTCCTCTCTGTCC c.600
A K S D T I T F K R L I R F V P S S L S p.200
. . . . . . g.18906
TGGTATGGGGCCTACCTGGTCAATGCGTATCCCCTGGATATGTCCCAGTATTTTCGGCTT c.660
W Y G A Y L V N A Y P L D M S Q Y F R L p.220
. . . . . . g.18966
TTCAACTCAACTCGTTTACCCAAACCCAGTCGGGATGAACTCTTCACTGATGACAAGGCC c.720
F N S T R L P K P S R D E L F T D D K A p.240
. . . . . . g.19026
AGACACCTCCTGGTCCTAAGGAAAGGAAATTTTTATATCTTTGATGTCCTGGATCAAGAT c.780
R H L L V L R K G N F Y I F D V L D Q D p.260
. . . . . . g.19086
GGGAACATTGTGAGCCCCTCGGAAATCCAGGCACATCTGAAGTACATTCTCTCAGACAGC c.840
G N I V S P S E I Q A H L K Y I L S D S p.280
. . . . . . g.19146
AGCCCCGCCCCCGAGTTTCCCCTGGCATACCTGACCAGTGAGAACCGAGACATCTGGGCA c.900
S P A P E F P L A Y L T S E N R D I W A p.300
. . . . . . g.19206
GAGCTCAGGCAGAAGCTGATGAGTAGTGGCAATGAGGAGAGCCTGAGGAAAGTGGACTCG c.960
E L R Q K L M S S G N E E S L R K V D S p.320
. . . . . . g.19266
GCAGTGTTCTGTCTCTGCCTAGATGACTTCCCCATTAAGGACCTTGTCCACTTGTCCCAC c.1020
A V F C L C L D D F P I K D L V H L S H p.340
. . . . . . g.19326
AATATGCTGCATGGGGATGGCACAAACCGCTGGTTTGATAAATCCTTTAACCTCATTATC c.1080
N M L H G D G T N R W F D K S F N L I I p.360
. . . . . . g.19386
GCCAAGGATGGCTCTACTGCCGTCCACTTTGAGCACTCTTGGGGTGATGGTGTGGCAGTG c.1140
A K D G S T A V H F E H S W G D G V A V p.380
. . . . . . g.19446
CTCAGATTTTTTAATGAAGTATTTAAAGACAGCACTCAGACCCCTGCCGTCACTCCACAG c.1200
L R F F N E V F K D S T Q T P A V T P Q p.400
. . . . . . g.19506
AGCCAGCCAGCTACCACTGACTCTACTGTCACGGTGCAGAAACTCAACTTCGAGCTGACT c.1260
S Q P A T T D S T V T V Q K L N F E L T p.420
. . . . . . g.19566
GATGCCTTAAAGACTGGCATCACAGCTGCTAAGGAAAAGTTTGATGCCACCATGAAAACC c.1320
D A L K T G I T A A K E K F D A T M K T p.440
. . . . . . g.19626
CTCACTATTGACTGCGTCCAGTTTCAGAGAGGAGGCAAAGAATTCCTGAAGAAGCAAAAG c.1380
L T I D C V Q F Q R G G K E F L K K Q K p.460
. . . . . . g.19686
CTGAGCCCTGACGCAGTTGCCCAGCTGGCATTCCAGATGGCCTTCCTGCGGCAGTACGGG c.1440
L S P D A V A Q L A F Q M A F L R Q Y G p.480
. . . . . . g.19746
CAGACAGTGGCCACCTACGAGTCCTGTAGCACTGCCGCATTCAAGCACGGCCGCACTGAG c.1500
Q T V A T Y E S C S T A A F K H G R T E p.500
. . . . . . g.19806
ACCATCCGCCCGGCCTCCGTCTATACAAAGAGGTGCTCTGAGGCCTTTGTCAGGGAGCCC c.1560
T I R P A S V Y T K R C S E A F V R E P p.520
. . . . . . g.19866
TCCAGGCACAGTGCTGGTGAGCTTCAGCAGATGATGGTTGAGTGCTCCAAGTACCATGGC c.1620
S R H S A G E L Q Q M M V E C S K Y H G p.540
. . | 05 . . . . g.21870
CAGCTGACCAAAGAAGCAGCAATGG | GCCAGGGCTTTGACCGACACTTGTTTGCTCTGCGG c.1680
Q L T K E A A M G | Q G F D R H L F A L R p.560
. . . . . . g.21930
CATCTGGCAGCAGCCAAAGGGATCATCTTGCCTGAGCTCTACCTGGACCCTGCATACGGG c.1740
H L A A A K G I I L P E L Y L D P A Y G p.580
. . . . . . g.21990
CAGATAAACCACAATGTCCTGTCCACGAGCACACTGAGCAGCCCAGCAGTGAACCTTGGG c.1800
Q I N H N V L S T S T L S S P A V N L G p.600
. . . . . . g.22050
GGCTTTGCCCCTGTGGTCTCTGATGGCTTTGGTGTTGGGTATGCTGTTCATGACAACTGG c.1860
G F A P V V S D G F G V G Y A V H D N W p.620
. . . . . . g.22110
ATAGGCTGCAATGTCTCTTCCTACCCAGGCCGCAATGCCCGGGAGTTTCTCCAATGTGTG c.1920
I G C N V S S Y P G R N A R E F L Q C V p.640
. . . . . g.22167
GAGAAGGCCTTAGAAGACATGTTTGATGCCTTAGAAGGCAAATCCATCAAAAGTTAA c.1977
E K A L E D M F D A L E G K S I K S X p.658
. . . . . . g.22227
cttctgggcagatgaaaagctaccatcacttcctcatcatgaaaactgggaggccgggca c.*60
. . . . . . g.22287
tggtggctcatgcctgtaatcccagcattttgagaggctgaggcgggtggatcacttgag c.*120
. . . . . . g.22347
gtcaggagtttgagaccaacctggccaacatggtgaaaccttgtctctactaaaaataca c.*180
. . . . . . g.22407
aaaattagctgggtgtggtggcatgtgcctataatcccagctacttgggaggttgaagca c.*240
. . . . . . g.22467
gaattgcttgaacccaggaggtggaggttgcagtgagctgagatcacaccactgcactcc c.*300
. . . . . . g.22527
ggcctgggcgacagagcgagactgtctcaaaaaaacaaaaaagaaaaaaaaactggggcc c.*360
. . . . . . g.22587
tgtgtagccagtgggtgctattctgtgaaactaatcataagctgcctaggcagccagcta c.*420
. . . . . . g.22647
caggcttgagctttaaattcatggttttaaagctaaacgtaatttccacttgggactaga c.*480
. . . . . . g.22707
tcacaactgaagataacaagagatttaagttttaagggcatttaatcaggaggaaaggtt c.*540
. . . . . . g.22767
tggaaaactaactcaggtgtatttattgtttaagcagaaataaagtttaatttttgcttg c.*600
g.22769
aa c.*602
(downstream sequence)
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