(used for variant description)
(last modified August 14, 2022)
This file was created to facilitate the description of sequence variants on transcript NM_021828.4 in the HPSE2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000010.10, covering HPSE2 transcript NM_021828.4.
(upstream sequence)
. g.5013
acacactttagat c.-61
. . . . . . g.5073
aaggacaattagtcactagcgagacccagtaggaagagaggtttaaatcagagggattga c.-1
. . . . . . g.5133
ATGAGGGTGCTTTGTGCCTTCCCTGAAGCCATGCCCTCCAGCAACTCCCGCCCCCCCGCG c.60
M R V L C A F P E A M P S S N S R P P A p.20
. . . . . . g.5193
TGCCTAGCCCCGGGGGCTCTCTACTTGGCTCTGTTGCTCCATCTCTCCCTTTCCTCCCAG c.120
C L A P G A L Y L A L L L H L S L S S Q p.40
. . . . . . g.5253
GCTGGAGACAGGAGACCCTTGCCTGTAGACAGAGCTGCAGGTTTGAAGGAAAAGACCCTG c.180
A G D R R P L P V D R A A G L K E K T L p.60
. . . . . . g.5313
ATTCTACTTGATGTGAGCACCAAGAACCCAGTCAGGACAGTCAATGAGAACTTCCTCTCT c.240
I L L D V S T K N P V R T V N E N F L S p.80
. . . . . | 02 . g.8380
CTGCAGCTGGATCCGTCCATCATTCATGATGGCTGGCTCGATTTCCTAAG | CTCCAAGCGC c.300
L Q L D P S I I H D G W L D F L S | S K R p.100
. . . . . . g.8440
TTGGTGACCCTGGCCCGGGGACTTTCGCCCGCCTTTCTGCGCTTCGGGGGCAAAAGGACC c.360
L V T L A R G L S P A F L R F G G K R T p.120
. . . . . . g.8500
GACTTCCTGCAGTTCCAGAACCTGAGGAACCCGGCGAAAAGCCGCGGGGGCCCGGGCCCG c.420
D F L Q F Q N L R N P A K S R G G P G P p.140
. . | 03 . . . g.96508
GATTACTATCTCAAAAACTATGAGGATG | ACATTGTTCGAAGTGATGTTGCCTTAGATAAA c.480
D Y Y L K N Y E D D | I V R S D V A L D K p.160
. . . . . . g.96568
CAGAAAGGCTGCAAGATTGCCCAGCACCCTGATGTTATGCTGGAGCTCCAAAGGGAGAAG c.540
Q K G C K I A Q H P D V M L E L Q R E K p.180
. . . . . . g.96628
GCAGCTCAGATGCATCTGGTTCTTCTAAAGGAGCAATTCTCCAATACTTACAGTAATCTC c.600
A A Q M H L V L L K E Q F S N T Y S N L p.200
. | 04 . . . . . g.496869
ATATTAACAG | CCAGGTCTCTAGACAAACTTTATAACTTTGCTGATTGCTCTGGACTCCAC c.660
I L T A | R S L D K L Y N F A D C S G L H p.220
. . . . . . g.496929
CTGATATTTGCTCTAAATGCACTGCGTCGTAATCCCAATAACTCCTGGAACAGTTCTAGT c.720
L I F A L N A L R R N P N N S W N S S S p.240
. . . . . . g.496989
GCCCTGAGTCTGTTGAAGTACAGCGCCAGCAAAAAGTACAACATTTCTTGGGAACTGGGT c.780
A L S L L K Y S A S K K Y N I S W E L G p.260
| 05 . . . . . . g.519103
AATG | AGCCAAATAACTATCGGACCATGCATGGCCGGGCAGTAAATGGCAGCCAGTTGGGA c.840
N E | P N N Y R T M H G R A V N G S Q L G p.280
. . . . . . g.519163
AAGGATTACATCCAGCTGAAGAGCCTGTTGCAGCCCATCCGGATTTATTCCAGAGCCAGC c.900
K D Y I Q L K S L L Q P I R I Y S R A S p.300
. . . . . | 06 . g.546932
TTATATGGCCCTAATATTGGGCGGCCGAGGAAGAATGTCATCGCCCTCCTAGATGG | ATTC c.960
L Y G P N I G R P R K N V I A L L D G | F p.320
. . . . | 07 . . g.598951
ATGAAGGTGGCAGGAAGTACAGTAGATGCAGTTACCTGGCAACA | TTGCTACATTGATGGC c.1020
M K V A G S T V D A V T W Q H | C Y I D G p.340
. . . . . . g.599011
CGGGTGGTCAAGGTGATGGACTTCCTGAAAACTCGCCTGTTAGACACACTCTCTGACCAG c.1080
R V V K V M D F L K T R L L D T L S D Q p.360
. | 08 . . . . g.620209
ATTAGGAAAATTCAGAAA | GTGGTTAATACATACACTCCAGGAAAGAAGATTTGGCTTGAA c.1140
I R K I Q K | V V N T Y T P G K K I W L E p.380
. . . . . . g.620269
GGTGTGGTGACCACCTCAGCTGGAGGCACAAACAATCTATCCGATTCCTATGCTGCAGGA c.1200
G V V T T S A G G T N N L S D S Y A A G p.400
| 09 . . . . . . g.625912
TTCTT | ATGGTTGAACACTTTAGGAATGCTGGCCAATCAGGGCATTGATGTCGTGATACGG c.1260
F L | W L N T L G M L A N Q G I D V V I R p.420
. . . . . . g.625972
CACTCATTTTTTGACCATGGATACAATCACCTCGTGGACCAGAATTTTAACCCATTACCA c.1320
H S F F D H G Y N H L V D Q N F N P L P p.440
| 10 . . . . . . g.750739
| GACTACTGGCTCTCTCTCCTCTACAAGCGCCTGATCGGCCCCAAAGTCTTGGCTGTGCAT c.1380
| D Y W L S L L Y K R L I G P K V L A V H p.460
. . . . . . g.750799
GTGGCTGGGCTCCAGCGGAAGCCACGGCCTGGCCGAGTGATCCGGGACAAACTAAGGATT c.1440
V A G L Q R K P R P G R V I R D K L R I p.480
. . | 11 . . . . g.758127
TATGCTCACTGCACAAACCACCACAA | CCACAACTACGTTCGTGGGTCCATTACACTTTTT c.1500
Y A H C T N H H N | H N Y V R G S I T L F p.500
. . . . . . g.758187
ATCATCAACTTGCATCGATCAAGAAAGAAAATCAAGCTGGCTGGGACTCTCAGAGACAAG c.1560
I I N L H R S R K K I K L A G T L R D K p.520
. . . . . | 12 . g.781143
CTGGTTCACCAGTACCTGCTGCAGCCCTATGGGCAGGAGGGCCTAAAGTCCAA | GTCAGTG c.1620
L V H Q Y L L Q P Y G Q E G L K S K | S V p.540
. . . . . . g.781203
CAACTGAATGGCCAGCCCTTAGTGATGGTGGACGACGGGACCCTCCCAGAATTGAAGCCC c.1680
Q L N G Q P L V M V D D G T L P E L K P p.560
. . . . . . g.781263
CGCCCCCTTCGGGCCGGCCGGACATTGGTCATCCCTCCAGTCACCATGGGCTTTTATGTG c.1740
R P L R A G R T L V I P P V T M G F Y V p.580
. . . g.781302
GTCAAGAATGTCAATGCTTTGGCCTGCCGCTACCGATAA c.1779
V K N V N A L A C R Y R X p.592
. . . . . . g.781362
gctatcctcacactcacggctaccagtgggcctgctgggctgcttccactcctccactcc c.*60
. . . . . . g.781422
agtagtatcctctgttttcagacatcctagcaaccagcccctgctgccccatcctgctgg c.*120
. . . . . . g.781482
aatcaacacagacttgctctccaaagagactaaatgtcatagcgtgatcttagcctaggt c.*180
. . . . . . g.781542
aggccacatccatcccaaaggaaaatgtagacatcacctgtacctatataaggataaagg c.*240
. . . . . . g.781602
catgtgtatagagcagaatgtttcccttcatgtgcactatgaaaacgagctgacagcaca c.*300
. . . . . . g.781662
ctcccaggagaaatgtttccagacaactccccatgatcctgtcacacagcattataacca c.*360
. . . . . . g.781722
caaatccaaaccttagcctgctgctgctgctgccctcagaggaagatgaggaaggaaaaa c.*420
. . . . . . g.781782
aactgggtggacctacaaaaacccatcctctcccaactccttcttctctgcctctttctt c.*480
. . . . . . g.781842
gctgctgccctgagttttttgacacatctctttccataggggagtaatgggtgtgtcagc c.*540
. . . . . . g.781902
cctggcctgctgggagagctgtttgtatgatttcccggctgatgtatgagcgtgcgcatc c.*600
. . . . . . g.781962
tgggttcctgacagtggcatccatcactggcagttcttctgggaagcgggtgcttcaaaa c.*660
. . . . . . g.782022
gtaaaattacaatcacactccagatttggtaagaaggttctattcctctgtgaatccaga c.*720
. . . . . . g.782082
ttcccccagagttgtaatgggagtcaagtaacaatattcattgagtggagagcagtttat c.*780
. . . . . . g.782142
taggcacaacaaaaagtagtcatcattcttcatgttgctatgagggagagtttgagtaca c.*840
. . . . . . g.782202
aagagaaagcatactgaaacatcaggtacacacacacaccccaactggacaaagcaaatt c.*900
. . . . . . g.782262
agacctctccaaaattaagagaatattaggggctctatagggtaagcccttaattgtttg c.*960
. . . . . . g.782322
gttaactcaaatcattatttttaaaaaagaagaaaaaagtgtgaatcaaggtcatcactg c.*1020
. . . . . . g.782382
gaagacacaactgaatctaacctttttgcctcttcccaagtagcctatttgagctagaac c.*1080
. . . . . . g.782442
aaaactttgttagccattttgggagagaatagggaatctagagaatgaagatctggccaa c.*1140
. . . . . . g.782502
aactatggaatggtaggtaggaagcttctgagttgggcaggtgtgaagtgggggatgagg c.*1200
. . . . . . g.782562
acgttctatatgattcaaggggcatgagggtctttgccaatgagctacagctgaaatgac c.*1260
. . . . . . g.782622
tttcttttctgtggatgtgattttctttctcaggataaatgacaggaatgatgcttttgt c.*1320
. . . . . . g.782682
tagaaggaggagagatttgacactgttccaagtgagacggtgatacaatttctgctgttt c.*1380
. . . . . . g.782742
gtgaaaggacaggaatggggcgggggcaaggcagggttgcctagggcagagactagggag c.*1440
. . . . . . g.782802
gctgcctaagacgcacacggagttaaggatttgggccaagtctgcaaagtgagagatgga c.*1500
. . . . . . g.782862
agggagattagaccaaagaggagggagagaattctgagcttggagaacggtggatttggg c.*1560
. . . . . . g.782922
agagggaagctgactacctaattccaggaagcgaggggaccgggttttgacatgcttatc c.*1620
. . . . . . g.782982
attaagcacaggaggaacagcatacagcagatgtactacagcgagcaagaaagggagagc c.*1680
. . . . . . g.783042
ccgaggaccaggctgcaccaggtcagtggctgtgctcagcatggaagcaactggagagag c.*1740
. . . . . . g.783102
aggggcagaccctgagaccgccctgcaaggctgcccagaagggacccgtttctctgggac c.*1800
. . . . . . g.783162
caggcacctcccactgaggcttcagctctgagagggcaggaaagtgaagtaccaagatgg c.*1860
. . . . . . g.783222
gggcggggcggggggtaggaaataagagaaagaagaaacagattgacaggccaaagtgag c.*1920
. . . . . . g.783282
gaaaagagaggaaaagagaaatgagactaaaaggtcgttcccccaactgttaaaaatgtg c.*1980
. . . . . . g.783342
tgcagatatcaacgtctcttctacatactggtacaggtgcgactgcagggccccctgata c.*2040
. . . . . . g.783402
taacaagagtaaccaaaggtccctaagagcctggccctggggacctatggtttgctttgc c.*2100
. . . . . . g.783462
gtccttagtaaccccatgataaaggggtactactgttatccccatttttcctacgaggca c.*2160
. . . . . . g.783522
tggagaggatccatggctcgcccaggggcacccggggaaatgggttgccgagcgcgaaat c.*2220
. . . . . . g.783582
aatccagagcctgcccactcagccacaaggctcagcggctccacaggtccagacacctcc c.*2280
. . . . . . g.783642
ttcacatctttgtaggttctgctcattcagaacagccagaactccactcaaacacacttt c.*2340
. . . . . . g.783702
ctgtaaataagtgttgatttttttttactaaaccttgcagaatatgggtaattcctgctt c.*2400
. . . . . . g.783762
cttttatctttctctgtgtattaaatgctgctctcacgagatttaagttttgtttatttt c.*2460
. . . g.783799
ttagttaataaaaggaagagggaattactgaaattta c.*2497
(downstream sequence)
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