(used for variant description)
(last modified November 8, 2024)
This file was created to facilitate the description of sequence variants on transcript NM_017852.3 in the NLRP2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000019.9, covering NLRP2 transcript NM_017852.3.
(upstream sequence)
. . g.6081
agtgctcagcaacgattacgcc c.-121
. . . . . . g.6141
ccgagggccaatcacagggctgcggccgagagagaagccttattagagctttctcaacct c.-61
. . . . . | 02 . g.9732
gcagccctcatctccgccggcgagtagggccaggtgttgggag | ctcccacgtgggacaag c.-1
. . . . . . g.9792
ATGGTGTCTTCGGCGCAGATGGGCTTCAACCTGCAGGCTCTCCTGGAGCAGCTCAGCCAG c.60
M V S S A Q M G F N L Q A L L E Q L S Q p.20
. . . . . . g.9852
GATGAGTTGAGCAAGTTCAAGTATCTGATCACGACCTTCTCCCTGGCACACGAGCTCCAG c.120
D E L S K F K Y L I T T F S L A H E L Q p.40
. . . . . . g.9912
AAGATCCCCCACAAGGAGGTAGACAAGGCTGATGGGAAGCAACTGGTAGAAATCCTCACC c.180
K I P H K E V D K A D G K Q L V E I L T p.60
. . . . . . g.9972
ACCCATTGTGACAGCTACTGGGTGGAGATGGCGAGCCTCCAGGTCTTTGAAAAGATGCAC c.240
T H C D S Y W V E M A S L Q V F E K M H p.80
. . . . | 03 . . g.14236
CGAATGGATCTGTCTGAGAGAGCAAAGGATGAAGTCAGAG | AAGCAGCTTTGAAATCCTTT c.300
R M D L S E R A K D E V R E | A A L K S F p.100
. . | 04 . . . . g.17503
AATAAAAGGAAGCCTCTATCATTAG | GGATAACACGGAAAGAACGACCACCTCTAGACGTG c.360
N K R K P L S L G | I T R K E R P P L D V p.120
. . . | 05. . . g.21356
GACGAAATGCTGGAGCGCTTCAAAACAGAAGCACAAG | CGTTTACAGAAACGAAAGGAAAT c.420
D E M L E R F K T E A Q A | F T E T K G N p.140
. . . . | 06 . . g.21895
GTCATCTGCCTGGGTAAAGAAGTCTTTAAAGGAAAAAAGCCAG | ACAAAGACAATAGGTGC c.480
V I C L G K E V F K G K K P D | K D N R C p.160
. . . . . . g.21955
AGGTATATATTGAAGACGAAGTTCCGGGAGATGTGGAAGAGCTGGCCTGGAGATAGCAAA c.540
R Y I L K T K F R E M W K S W P G D S K p.180
. . . . . . g.22015
GAGGTCCAGGTTATGGCTGAGAGATACAAGATGCTGATCCCATTCAGCAACCCCAGGGTG c.600
E V Q V M A E R Y K M L I P F S N P R V p.200
. . . . . . g.22075
CTTCCCGGGCCCTTCTCATACACGGTGGTGCTGTATGGTCCTGCAGGCCTTGGGAAAACC c.660
L P G P F S Y T V V L Y G P A G L G K T p.220
. . . . . . g.22135
ACGCTGGCCCAGAAACTAATGCTAGACTGGGCAGAGGACAACCTCATCCACAAATTCAAA c.720
T L A Q K L M L D W A E D N L I H K F K p.240
. . . . . . g.22195
TATGCGTTCTACCTCAGCTGCAGGGAGCTCAGCCGCCTGGGCCCGTGCAGTTTTGCAGAG c.780
Y A F Y L S C R E L S R L G P C S F A E p.260
. . . . . . g.22255
CTGGTCTTCAGGGACTGGCCTGAATTGCAGGATGACATTCCACACATCCTAGCCCAAGCA c.840
L V F R D W P E L Q D D I P H I L A Q A p.280
. . . . . . g.22315
CGGAAAATCTTGTTCGTGATTGACGGCTTTGATGAGCTGGGAGCCGCACCTGGGGCGCTG c.900
R K I L F V I D G F D E L G A A P G A L p.300
. . . . . . g.22375
ATCGAGGACATCTGCGGGGACTGGGAGAAGAAGAAGCCGGTGCCCGTCCTCCTGGGGAGT c.960
I E D I C G D W E K K K P V P V L L G S p.320
. . . . . . g.22435
TTGCTGAACAGGGTGATGTTACCCAAGGCCGCCCTGCTGGTCACCACGCGGCCCAGGGCC c.1020
L L N R V M L P K A A L L V T T R P R A p.340
. . . . . . g.22495
CTGAGGGACCTCCGGATCCTGGCGGAGGAGCCGATCTACATAAGGGTGGAGGGCTTCCTG c.1080
L R D L R I L A E E P I Y I R V E G F L p.360
. . . . . . g.22555
GAGGAGGACAGGAGGGCCTATTTCCTGAGACACTTTGGAGACGAGGACCAAGCCATGCGT c.1140
E E D R R A Y F L R H F G D E D Q A M R p.380
. . . . . . g.22615
GCCTTTGAGCTAATGAGGAGCAACGCGGCCCTGTTCCAGCTGGGCTCGGCCCCCGCGGTG c.1200
A F E L M R S N A A L F Q L G S A P A V p.400
. . . . . . g.22675
TGCTGGATCGTGTGCACGACTCTGAAGCTGCAGATGGAGAAGGGGGAGGACCCGGTCCCC c.1260
C W I V C T T L K L Q M E K G E D P V P p.420
. . . . . . g.22735
ACCTGCCTCACCCGCACGGGGCTGTTCCTGCGTTTCCTCTGCAGCCGGTTCCCGCAGGGC c.1320
T C L T R T G L F L R F L C S R F P Q G p.440
. . . . . . g.22795
GCACAGCTGCGGGGCGCGCTGCGGACGCTGAGCCTCCTGGCCGCGCAGGGCCTGTGGGCG c.1380
A Q L R G A L R T L S L L A A Q G L W A p.460
. . . . . . g.22855
CAGACGTCCGTGCTTCACCGAGAGGATCTGGAAAGGCTCGGGGTGCAGGAGTCCGACCTC c.1440
Q T S V L H R E D L E R L G V Q E S D L p.480
. . . . . . g.22915
CGTCTGTTCCTGGACGGAGACATCCTCCGCCAGGACAGAGTCTCCAAAGGCTGCTACTCC c.1500
R L F L D G D I L R Q D R V S K G C Y S p.500
. . . . . . g.22975
TTCATCCACCTCAGCTTCCAGCAGTTTCTCACTGCCCTGTTCTACACCCTGGAGAAGGAG c.1560
F I H L S F Q Q F L T A L F Y T L E K E p.520
. . . . . . g.23035
GAGGAAGAGGATAGGGACGGCCACACCTGGGACATTGGGGACGTACAGAAGCTGCTTTCC c.1620
E E E D R D G H T W D I G D V Q K L L S p.540
. . . . . . g.23095
GGAGTAGAAAGACTCAGGAACCCCGACCTGATCCAAGCAGGCTACTACTCCTTTGGCCTC c.1680
G V E R L R N P D L I Q A G Y Y S F G L p.560
. . . . . . g.23155
GCTAACGAGAAGAGAGCCAAGGAGTTGGAGGCCACTTTTGGCTGCCGGATGTCACCGGAC c.1740
A N E K R A K E L E A T F G C R M S P D p.580
. . . . . . g.23215
ATCAAACAGGAATTGCTGCGATGCGACATAAGTTGTAAGGGTGGACATTCAACGGTGACA c.1800
I K Q E L L R C D I S C K G G H S T V T p.600
. . . . . . g.23275
GACCTGCAGGAGCTCCTCGGCTGTCTGTACGAGTCTCAGGAGGAGGAGCTGGTGAAGGAG c.1860
D L Q E L L G C L Y E S Q E E E L V K E p.620
. . . . . . g.23335
GTGATGGCTCAGTTCAAAGAAATATCCCTGCACTTAAATGCAGTAGACGTTGTGCCATCT c.1920
V M A Q F K E I S L H L N A V D V V P S p.640
. . . . . . g.23395
TCATTCTGCGTCAAGCACTGTCGAAACCTGCAGAAAATGTCACTGCAGGTAATAAAGGAG c.1980
S F C V K H C R N L Q K M S L Q V I K E p.660
. . . . . | 07 . g.24773
AATCTCCCGGAGAATGTCACTGCGTCTGAATCAGACGCCGAGGTTGAGAG | ATCCCAGGAT c.2040
N L P E N V T A S E S D A E V E R | S Q D p.680
. . . . . . g.24833
GATCAGCACATGCTTCCTTTCTGGACGGACCTTTGTTCCATATTTGGATCAAATAAGGAT c.2100
D Q H M L P F W T D L C S I F G S N K D p.700
. . . . . . g.24893
CTGATGGGTCTAGCAATCAATGATAGCTTTCTCAGTGCCTCCCTAGTAAGGATCCTGTGT c.2160
L M G L A I N D S F L S A S L V R I L C p.720
. . . . | 08 . . g.25886
GAACAAATAGCCTCTGACACCTGTCATCTCCAGAGAGTGGT | GTTCAAAAACATTTCCCCA c.2220
E Q I A S D T C H L Q R V V | F K N I S P p.740
. . . . . . g.25946
GCTGATGCTCATCGGAACCTCTGCCTAGCTCTTCGAGGTCACAAGACTGTAACGTATCTG c.2280
A D A H R N L C L A L R G H K T V T Y L p.760
. . . . . . g.26006
ACCCTTCAAGGCAATGACCAGGATGATATGTTTCCCGCATTGTGTGAGGTCTTGAGACAT c.2340
T L Q G N D Q D D M F P A L C E V L R H p.780
. . | 09 . . . . g.29772
CCAGAATGTAACCTGCGATATCTCGG | GTTGGTGTCTTGTTCCGCTACCACTCAGCAGTGG c.2400
P E C N L R Y L G | L V S C S A T T Q Q W p.800
. . . . . . g.29832
GCTGATCTCTCCTTGGCCCTTGAAGTCAACCAGTCCCTGACGTGCGTAAACCTCTCCGAC c.2460
A D L S L A L E V N Q S L T C V N L S D p.820
. . . . . . g.29892
AATGAGCTTCTGGATGAGGGTGCTAAGTTGCTGTACACAACTTTGAGACACCCCAAGTGC c.2520
N E L L D E G A K L L Y T T L R H P K C p.840
. | 10. . . . . g.30261
TTTCTGCAGAGGTTGTC | GTTGGAAAACTGTCACCTTACAGAAGCCAATTGCAAGGACCTT c.2580
F L Q R L S | L E N C H L T E A N C K D L p.860
. . . . . . g.30321
GCTGCTGTGTTGGTTGTCAGCCGGGAGCTGACACACCTGTGCTTGGCCAAGAACCCCATT c.2640
A A V L V V S R E L T H L C L A K N P I p.880
. . . . . . g.30381
GGGAATACAGGGGTGAAGTTTCTGTGTGAGGGCTTGAGGTACCCCGAGTGTAAACTGCAG c.2700
G N T G V K F L C E G L R Y P E C K L Q p.900
| 11 . . . . . g.34037
ACCTTGGT | GCTTTGGAACTGCGACATAACTAGCGATGGCTGCTGCGATCTCACAAAGCTT c.2760
T L V | L W N C D I T S D G C C D L T K L p.920
. . . . . . g.34097
CTCCAAGAAAAATCAAGCCTGTTGTGTTTGGATCTGGGGCTGAATCACATAGGAGTTAAG c.2820
L Q E K S S L L C L D L G L N H I G V K p.940
. . . . . | 12 g.37034
GGAATGAAGTTCCTGTGTGAGGCTTTGAGGAAACCACTGTGCAACTTGAGATGTCTGTG | G c.2880
G M K F L C E A L R K P L C N L R C L W | p.960
. . . . . . g.37094
TTGTGGGGATGTTCCATCCCTCCGTTCAGTTGTGAAGACCTCTGCTCTGCCCTCAGCTGC c.2940
L W G C S I P P F S C E D L C S A L S C p.980
. . . . . . g.37154
AACCAGAGCCTCGTCACTCTGGACCTGGGTCAGAATCCCTTGGGGTCTAGTGGAGTGAAG c.3000
N Q S L V T L D L G Q N P L G S S G V K p.1000
. . . . . | 13 . g.40486
ATGCTGTTTGAAACCTTGACATGTTCCAGTGGCACCCTCCGGACACTCAG | GTTGAAAATC c.3060
M L F E T L T C S S G T L R T L R | L K I p.1020
. . . . . . g.40546
GATGACTTTAATGATGAACTCAATAAGCTGCTGGAAGAAATAGAAGAAAAAAACCCACAA c.3120
D D F N D E L N K L L E E I E E K N P Q p.1040
. . . . . . g.40606
CTGATTATTGATACTGAGAAACATCATCCCTGGGCAGAAAGGCCTTCTTCTCATGACTTC c.3180
L I I D T E K H H P W A E R P S S H D F p.1060
g.40615
ATGATCTGA c.3189
M I X p.1062
. . . . . . g.40675
atccccccgagtcattcattctccatgaagtcatcgattttccaggtgttggtgaactgc c.*60
. . . . . . g.40735
ctgtgactcctctcctccccggcccctacccctcagggataatgagttcattgctgggct c.*120
. . . . . . g.40795
agatgttttagccatgattctgcctctgttttatacctgcacacatccttatctttgtta c.*180
. . . . . . g.40855
catatgaaatatctgtatcacgggtatattgagagaaataaaggtgagagcattcacaaa c.*240
g.40859
tgaa c.*244
(downstream sequence)
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