(used for variant description)
(last modified November 26, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_001122606.1 in the LAMP2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_007995.1, covering LAMP2 transcript NM_001122606.1.
(upstream sequence)
. . . . . . g.5060
aagaaagagccccgcccctagtcttatgactcgcactgaagcgccgattcctggcttttg c.-121
. . . . . . g.5120
caaggctgtggtcggtggtcatcagtgctcttgacccaggtccagcgagccttttccctg c.-61
. . . . . . g.5180
gtgttgcagctgttgttgtaccgccgccgtcgccgccgtcgccgcctgctctgcggggtc c.-1
. . . . . . g.5240
ATGGTGTGCTTCCGCCTCTTCCCGGTTCCGGGCTCAGGGCTCGTTCTGGTCTGCCTAGTC c.60
M V C F R L F P V P G S G L V L V C L V p.20
| 02 . . . . . . g.17636
CTGG | GAGCTGTGCGGTCTTATGCATTGGAACTTAATTTGACAGATTCAGAAAATGCCACT c.120
L G | A V R S Y A L E L N L T D S E N A T p.40
. . . . . . g.17696
TGCCTTTATGCAAAATGGCAGATGAATTTCACAGTACGCTATGAAACTACAAATAAAACT c.180
C L Y A K W Q M N F T V R Y E T T N K T p.60
| 03 . . . . . . g.18836
TAT | AAAACTGTAACCATTTCAGACCATGGCACTGTGACATATAATGGAAGCATTTGTGGG c.240
Y | K T V T I S D H G T V T Y N G S I C G p.80
. . . . . . g.18896
GATGATCAGAATGGTCCCAAAATAGCAGTGCAGTTCGGACCTGGCTTTTCCTGGATTGCG c.300
D D Q N G P K I A V Q F G P G F S W I A p.100
. . . . . . g.18956
AATTTTACCAAGGCAGCATCTACTTATTCAATTGACAGCGTCTCATTTTCCTACAACACT c.360
N F T K A A S T Y S I D S V S F S Y N T p.120
. . . | 04. . . g.25244
GGTGATAACACAACATTTCCTGATGCTGAAGATAAAG | GAATTCTTACTGTTGATGAACTT c.420
G D N T T F P D A E D K G | I L T V D E L p.140
. . . . . . g.25304
TTGGCCATCAGAATTCCATTGAATGACCTTTTTAGATGCAATAGTTTATCAACTTTGGAA c.480
L A I R I P L N D L F R C N S L S T L E p.160
. . . . . . g.25364
AAGAATGATGTTGTCCAACACTACTGGGATGTTCTTGTACAAGCTTTTGTCCAAAATGGC c.540
K N D V V Q H Y W D V L V Q A F V Q N G p.180
. | 05 . . . . . g.26368
ACAGTGAGCACAAATG | AGTTCCTGTGTGATAAAGACAAAACTTCAACAGTGGCACCCACC c.600
T V S T N E | F L C D K D K T S T V A P T p.200
. . . . . . g.26428
ATACACACCACTGTGCCATCTCCTACTACAACACCTACTCCAAAGGAAAAACCAGAAGCT c.660
I H T T V P S P T T T P T P K E K P E A p.220
. . . . . . g.26488
GGAACCTATTCAGTTAATAATGGCAATGATACTTGTCTGCTGGCTACCATGGGGCTGCAG c.720
G T Y S V N N G N D T C L L A T M G L Q p.240
. . | 06 . . . . g.27961
CTGAACATCACTCAGGATAAG | GTTGCTTCAGTTATTAACATCAACCCCAATACAACTCAC c.780
L N I T Q D K | V A S V I N I N P N T T H p.260
. . . . . . g.28021
TCCACAGGCAGCTGCCGTTCTCACACTGCTCTACTTAGACTCAATAGCAGCACCATTAAG c.840
S T G S C R S H T A L L R L N S S T I K p.280
. . | 07 . . . . g.31723
TATCTAGACTTTGTCTTTGCTGTG | AAAAATGAAAACCGATTTTATCTGAAGGAAGTGAAC c.900
Y L D F V F A V | K N E N R F Y L K E V N p.300
. . | 08 . . . g.32487
ATCAGCATGTATTTGGTTAATGGCTCCG | TTTTCAGCATTGCAAATAACAATCTCAGCTAC c.960
I S M Y L V N G S V | F S I A N N N L S Y p.320
. . . . . . g.32547
TGGGATGCCCCCCTGGGAAGTTCTTATATGTGCAACAAAGAGCAGACTGTTTCAGTGTCT c.1020
W D A P L G S S Y M C N K E Q T V S V S p.340
. . . . . . g.32607
GGAGCATTTCAGATAAATACCTTTGATCTAAGGGTTCAGCCTTTCAATGTGACACAAGGA c.1080
G A F Q I N T F D L R V Q P F N V T Q G p.360
. | 09 . . . . . g.45770
AAGTATTCTACAG | CTGAAGAATGTTCTGCTGACTCTGACCTCAACTTTCTTATTCCTGTT c.1140
K Y S T A | E E C S A D S D L N F L I P V p.380
. . . . . . g.45830
GCAGTGGGTGTGGCCTTGGGCTTCCTTATAATTGTTGTCTTTATCTCTTATATGATTGGA c.1200
A V G V A L G F L I I V V F I S Y M I G p.400
. . . g.45866
AGAAGGAAAAGTCGTACTGGTTATCAGTCTGTGTAA c.1236
R R K S R T G Y Q S V X p.411
. . . . . . g.45926
tcagttaaatctagtgtttgtttgtttttttcaattagaagttacgtttccattggctaa c.*60
. . . . . . g.45986
aagccaggacatgctgtgcaatagattgtttaagatatgcagactaacttcagtgagttc c.*120
. . . . . . g.46046
ctagctaacttgggcatgagtacacttatttaagacaaaatatattaggaccaatttttt c.*180
. . . . . . g.46106
tctgttttttttcttcctttgttaaagtataattaaaagaaaaattgtggcttagaattt c.*240
. . . . . . g.46166
tttaagtaaataatgattttaagcccctggatccaattatgaaagcatttttgctgatgt c.*300
. . . . . . g.46226
gtaattttatatgttacagttacttatattttactactttgatgttatttgcaaaatcaa c.*360
. . . . . . g.46286
aggtgttaaagaatttaacttgcttcaggaaataaattcaagaacatagtggattcattt c.*420
. . . . . . g.46346
tcattggtggcagacacgaaatttggttcatgataagacttcctttccccacctcctgat c.*480
. . . . . . g.46406
cagcattatttaaatctgtatttttctgttagttaagaaagaaatggcttcatgatattg c.*540
. . . . . . g.46466
tatttaatagcaaaagtttggctgtcttcttcattactgttaatagctactatattttaa c.*600
. . . . . . g.46526
caaggagatttctttttttgttgttgttgttctagagtttggaatatactgattatctca c.*660
. . . . . . g.46586
gacttgacatttatactgaaggatgaagtaagacctccagctttttttaaaaaaggtgtt c.*720
. . . . . . g.46646
gatttggaacacctgtatgggttatggtttattaaggttatggtttagaaagtttttttc c.*780
. . . . . . g.46706
cctcagagccttaacttgttaagaaggttcatttatcctgcactgaaaacaaaaactcta c.*840
. . . . . . g.46766
tatactttgtttgtgtgcctcctgcactctcccattccctatgtgaatatgctctagttg c.*900
. . . . . . g.46826
atatttttaatatattgatttcttttttctcacagcaacaagtgcttactctagaggtta c.*960
. . . . . . g.46886
gtgggccctgatatgtcatcagtcagatgcctgcctagccaaagctggactaagattatt c.*1020
. . . . . . g.46946
ctgtacatttgttgatcttgatatagacttatatccctgtagggactgctaatggctccg c.*1080
. . . . . . g.47006
gcttctggagtaaggtactggagaccactcatccctgtgtctgcttgattggttcagctg c.*1140
. . . . . . g.47066
ttgaattgcccttttatttggaagcagtgttgaagttgtctagggttcaaatggctgctt c.*1200
. . . . . . g.47126
tgtacacctgtcattagtataaggcagatgtttattttatcaagctattttatctctaca c.*1260
. . . . . . g.47186
tttaactaaaaacaaaagttcccaaagatctgccttcacttcagaaattttttttggatt c.*1320
. . . . . . g.47246
aaaaaaattaagcctgaaccttaaataaagtgagttggttattcattccaaggattaagt c.*1380
. . . . . . g.47306
cccaatctacctctcagcacaatgcagaagctcaccactgtattgctgccattaactcat c.*1440
. . . . . . g.47366
gccagaaccctttgccaataactggaattacaaatttttgttaaagaaaatttatcaaga c.*1500
. . . . . . g.47426
tctttctttactgccttctctatatgtacatctcaaaaacatgtacatctcaaaaactgg c.*1560
. . . . . . g.47486
agtagaaagttagattgctcaactacaactcctctagaactctatagctctgacatacag c.*1620
. . . . . . g.47546
attcacactctcctctatttgctaagtatgtaaagaatgttttcttttaaaatgttctct c.*1680
. . . . . . g.47606
tttgagaacaactgcttatttgttataaaagcatttggttaaaatgatgtcatcataaaa c.*1740
. . . . . . g.47666
aacagtggctttgtttcaatacatatttttgagatgattatctagaagccagattaataa c.*1800
. . . . . . g.47726
aatcagcttgtgaccttgctaagcatataaactggaaattcagatacattcaaaattatg c.*1860
. . . . . . g.47786
ggttcatttaaaagtgttctaccttttgggtatgagactaatatcactaattcctcaata c.*1920
. . . . . . g.47846
gttatcatggctctatcttaattaattagaaaatatgtgtgtttaattctttgagaatta c.*1980
. . . . . . g.47906
aaatagagaatattaacagagggttaaaaactgcttcaactccaataagataaaggaagc c.*2040
. . . . . . g.47966
tcaaaatctatgagctgagtgttcaattagctttgcctactgagttcaattttatgtcaa c.*2100
. . . . . . g.48026
tacaacagtggatcagacagtacgactttgaactggtgaatgtaaacaattgtttttcac c.*2160
. . . . . . g.48086
ctaagctgctttggaagaactgatgcttgctgctaactaaagttttggatgtatcgattt c.*2220
. . . . . . g.48146
agagaaccaattaatacctgcaaaataaagcatactgtggtacttctgtttgatctagta c.*2280
. . . . . g.48202
tgtgtgattttagattgatggattaaaaattaataaagatcatacattccatacca c.*2336
(downstream sequence)
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