gamma-aminobutyric acid (GABA) A receptor, alpha 2 [Source:HGNC Symbol;Acc:4076]
4
46250444
46477247
-1
p12
46250444
46477247
GABRA2
GABRA2-005
HGNC Symbol
HGNC transcript name
15
35.63
protein_coding
protein_coding
ensembl_hava
havana
KNOWN
KNOWN
2555
4076
GABRA2
27524
MSeqDR Master Exome Data Set M1: 283 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
4
46250558
G
A
ENST00000510861
ENSG00000151834
46250444
46477247
ENSP00000421828
GABRA2
-1
GBRA2_HUMAN
-
-
3'_UTR
rs187381142
0.00189
-
-
-
-
-
het
7
2
4
46250558
G
A
ENST00000514090
ENSG00000151834
46250444
46477247
ENSP00000421300
GABRA2
-1
GBRA2_HUMAN
-
-
3'_UTR
rs187381142
0.00189
-
-
-
-
-
het
7
3
4
46250562
A
G
ENST00000510861
ENSG00000151834
46250444
46477247
ENSP00000421828
GABRA2
-1
GBRA2_HUMAN
-
-
3'_UTR
NA
-
-
lod=100:461
-
-
-
het
1
4
4
46250562
A
G
ENST00000514090
ENSG00000151834
46250444
46477247
ENSP00000421300
GABRA2
-1
GBRA2_HUMAN
-
-
3'_UTR
NA
-
-
lod=100:461
-
-
-
het
1
5
4
46250605
C
T
ENST00000510861
ENSG00000151834
46250444
46477247
ENSP00000421828
GABRA2
-1
GBRA2_HUMAN
-
-
3'_UTR
rs16859227
0.24234
-
lod=100:461
-
-
-
hom
23
6
4
46250605
C
T
ENST00000510861
ENSG00000151834
46250444
46477247
ENSP00000421828
GABRA2
-1
GBRA2_HUMAN
-
-
3'_UTR
rs16859227
0.24234
-
lod=100:461
-
-
-
het
201
7
4
46250605
C
T
ENST00000514090
ENSG00000151834
46250444
46477247
ENSP00000421300
GABRA2
-1
GBRA2_HUMAN
-
-
3'_UTR
rs16859227
0.24234
-
lod=100:461
-
-
-
hom
23
8
4
46250605
C
T
ENST00000514090
ENSG00000151834
46250444
46477247
ENSP00000421300
GABRA2
-1
GBRA2_HUMAN
-
-
3'_UTR
rs16859227
0.24234
-
lod=100:461
-
-
-
het
201
9
4
46250620
C
A
ENST00000510861
ENSG00000151834
46250444
46477247
ENSP00000421828
GABRA2
-1
GBRA2_HUMAN
-
-
3'_UTR
rs192121332
0.00479
-
lod=100:461
-
-
-
het
9
10
4
46250620
C
A
ENST00000514090
ENSG00000151834
46250444
46477247
ENSP00000421300
GABRA2
-1
GBRA2_HUMAN
-
-
3'_UTR
rs192121332
0.00479
-
lod=100:461
-
-
-
het
9
11
4
46250677
G
A
ENST00000510861
ENSG00000151834
46250444
46477247
ENSP00000421828
GABRA2
-1
GBRA2_HUMAN
-
-
3'_UTR
rs497068
0.51813
-
-
-
-
-
het
287
12
4
46250677
G
A
ENST00000510861
ENSG00000151834
46250444
46477247
ENSP00000421828
GABRA2
-1
GBRA2_HUMAN
-
-
3'_UTR
rs497068
0.51813
-
-
-
-
-
hom
278
13
4
46250677
G
A
ENST00000514090
ENSG00000151834
46250444
46477247
ENSP00000421300
GABRA2
-1
GBRA2_HUMAN
-
-
3'_UTR
rs497068
0.51813
-
-
-
-
-
het
287
14
4
46250677
G
A
ENST00000514090
ENSG00000151834
46250444
46477247
ENSP00000421300
GABRA2
-1
GBRA2_HUMAN
-
-
3'_UTR
rs497068
0.51813
-
-
-
-
-
hom
278
15
4
46250719
A
G
ENST00000510861
ENSG00000151834
46250444
46477247
ENSP00000421828
GABRA2
-1
GBRA2_HUMAN
-
-
3'_UTR
rs75471058
0.0086
-
lod=339:592
-
-
-
het
3
16
4
46250719
A
G
ENST00000514090
ENSG00000151834
46250444
46477247
ENSP00000421300
GABRA2
-1
GBRA2_HUMAN
-
-
3'_UTR
rs75471058
0.0086
-
lod=339:592
-
-
-
het
3
17
4
46250719
A
T
ENST00000510861
ENSG00000151834
46250444
46477247
ENSP00000421828
GABRA2
-1
GBRA2_HUMAN
-
-
3'_UTR
NA
0.0086
-
lod=339:592
-
-
-
het
6
18
4
46250719
A
T
ENST00000514090
ENSG00000151834
46250444
46477247
ENSP00000421300
GABRA2
-1
GBRA2_HUMAN
-
-
3'_UTR
NA
0.0086
-
lod=339:592
-
-
-
het
6
19
4
46250769
T
C
ENST00000510861
ENSG00000151834
46250444
46477247
ENSP00000421828
GABRA2
-1
GBRA2_HUMAN
-
-
3'_UTR
rs149115766
0.01206
-
lod=339:592
-
-
-
het
3
20
4
46250769
T
C
ENST00000514090
ENSG00000151834
46250444
46477247
ENSP00000421300
GABRA2
-1
GBRA2_HUMAN
-
-
3'_UTR
rs149115766
0.01206
-
lod=339:592
-
-
-
het
3
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