purinergic receptor P2X, ligand-gated ion channel, 2 [Source:HGNC Symbol;Acc:15459]
12
133195366
133198972
1
q24.33
133195366
133198972
P2RX2
P2RX2-006
HGNC Symbol
HGNC transcript name
10
67.15
protein_coding
protein_coding
ensembl_hava
ensembl_hava
KNOWN
KNOWN
22953
15459
P2RX2
NM_170682
27519
MSeqDR Master Exome Data Set M1: 273 entries from same gene
No.
Chr
Position
Reference
Variant
EnsemblTranscriptID
EnsemblGeneID
Gene_Start
Gene_End
EnsemblProteinID
Gene
strand
Uniprot
cChange
pChange
Nature
dbSNP
Freq
EVS
phastCons
SIFT
Polyphen
HGMD
type
samples
1
12
133195367
T
C
ENST00000389110
ENSG00000187848
133195366
133198972
ENSP00000373762
P2RX2
1
P2RX2_HUMAN
-
-
5'_UTR
rs7314492
0.0677
-
-
-
-
-
het
72
2
12
133195367
T
C
ENST00000389110
ENSG00000187848
133195366
133198972
ENSP00000373762
P2RX2
1
P2RX2_HUMAN
-
-
5'_UTR
rs7314492
0.0677
-
-
-
-
-
hom
6
3
12
133195393
C
T
ENST00000389110
ENSG00000187848
133195366
133198972
ENSP00000373762
P2RX2
1
P2RX2_HUMAN
-
-
5'_UTR
NA
-
-
-
-
-
-
het
1
4
12
133195411
C
T
ENST00000343948
ENSG00000187848
133195366
133198972
ENSP00000343339
P2RX2
1
P2RX2_HUMAN
c.9C>T
p.A3A
syn
rs186684886
0.043
T=7/C=6795;T=223/C=3133;T=230/C=9928
-
-
-
-
het
7
5
12
133195411
C
T
ENST00000348800
ENSG00000187848
133195366
133198972
ENSP00000345095
P2RX2
1
P2RX2_HUMAN
c.9C>T
p.A3A
syn
rs186684886
0.043
T=7/C=6795;T=223/C=3133;T=230/C=9928
-
-
-
-
het
7
6
12
133195411
C
T
ENST00000350048
ENSG00000187848
133195366
133198972
ENSP00000343904
P2RX2
1
P2RX2_HUMAN
c.9C>T
p.A3A
syn
rs186684886
0.043
T=7/C=6795;T=223/C=3133;T=230/C=9928
-
-
-
-
het
7
7
12
133195411
C
T
ENST00000351222
ENSG00000187848
133195366
133198972
ENSP00000344502
P2RX2
1
P2RX2_HUMAN
c.9C>T
p.A3A
syn
rs186684886
0.043
T=7/C=6795;T=223/C=3133;T=230/C=9928
-
-
-
-
het
7
8
12
133195411
C
T
ENST00000352418
ENSG00000187848
133195366
133198972
ENSP00000341419
P2RX2
1
P2RX2_HUMAN
c.9C>T
p.A3A
syn
rs186684886
0.043
T=7/C=6795;T=223/C=3133;T=230/C=9928
-
-
-
-
het
7
9
12
133195411
C
T
ENST00000389110
ENSG00000187848
133195366
133198972
ENSP00000373762
P2RX2
1
P2RX2_HUMAN
c.9C>T
p.A3A
syn
rs186684886
0.043
T=7/C=6795;T=223/C=3133;T=230/C=9928
-
-
-
-
het
7
10
12
133195411
C
T
ENST00000449132
ENSG00000187848
133195366
133198972
ENSP00000405531
P2RX2
1
P2RX2_HUMAN
c.9C>T
p.A3A
syn
rs186684886
0.043
T=7/C=6795;T=223/C=3133;T=230/C=9928
-
-
-
-
het
7
11
12
133195411
C
T
ENST00000542301
ENSG00000187848
133195366
133198972
ENSP00000444477
P2RX2
1
-
c.5C>T
p.P2L
non-syn
rs186684886
0.043
T=7/C=6795;T=223/C=3133;T=230/C=9928
-
-
-
-
het
7
12
12
133195464
G
A
ENST00000343948
ENSG00000187848
133195366
133198972
ENSP00000343339
P2RX2
1
P2RX2_HUMAN
c.62G>A
p.C21Y
non-syn
NA
-
-
lod=46:378
DAMAGING
D
-
het
1
13
12
133195464
G
A
ENST00000348800
ENSG00000187848
133195366
133198972
ENSP00000345095
P2RX2
1
P2RX2_HUMAN
c.62G>A
p.C21Y
non-syn
NA
-
-
lod=46:378
DAMAGING
D
-
het
1
14
12
133195464
G
A
ENST00000350048
ENSG00000187848
133195366
133198972
ENSP00000343904
P2RX2
1
P2RX2_HUMAN
c.62G>A
p.C21Y
non-syn
NA
-
-
lod=46:378
DAMAGING
D
-
het
1
15
12
133195464
G
A
ENST00000351222
ENSG00000187848
133195366
133198972
ENSP00000344502
P2RX2
1
P2RX2_HUMAN
c.62G>A
p.C21Y
non-syn
NA
-
-
lod=46:378
DAMAGING
D
-
het
1
16
12
133195464
G
A
ENST00000352418
ENSG00000187848
133195366
133198972
ENSP00000341419
P2RX2
1
P2RX2_HUMAN
c.62G>A
p.C21Y
non-syn
NA
-
-
lod=46:378
DAMAGING
D
-
het
1
17
12
133195464
G
A
ENST00000389110
ENSG00000187848
133195366
133198972
ENSP00000373762
P2RX2
1
P2RX2_HUMAN
c.62G>A
p.C21Y
non-syn
NA
-
-
lod=46:378
DAMAGING
D
-
het
1
18
12
133195464
G
A
ENST00000449132
ENSG00000187848
133195366
133198972
ENSP00000405531
P2RX2
1
P2RX2_HUMAN
c.62G>A
p.C21Y
non-syn
NA
-
-
lod=46:378
DAMAGING
D
-
het
1
19
12
133195464
G
A
ENST00000536121
ENSG00000187848
133195366
133198972
ENSP00000444853
P2RX2
1
-
c.38G>A
p.C13Y
non-syn
NA
-
-
lod=46:378
DAMAGING
D
-
het
1
20
12
133195464
G
A
ENST00000542301
ENSG00000187848
133195366
133198972
ENSP00000444477
P2RX2
1
-
c.58G>A
p.A20T
non-syn
NA
-
-
lod=46:378
DAMAGING
D
-
het
1
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