GABRB2 gamma-aminobutyric acid type A receptor subunit beta2

Information
Symbol
GABRB2
Type
protein-coding
Description
gamma-aminobutyric acid type A receptor subunit beta2
Entrez Gene ID
2561
Genome
hg19
Position
chr5:160,715,436-160,974,918
Genome
hg38
Position
chr5:161,288,429-161,547,912
MIM
600232 OMIM
HGNC
HGNC:4082 HGNC
Ensembl
ENSG00000145864 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 1 40
Likely pathogenic 0 62
Benign 0 144
Likely benign 0 442
Conflicting classifications of pathogenicity 0 36
not provided 0 2
Uncertain significance 0 320
Ranking
ClinVar
0
0
134
828
10
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
TypeID
SYNONYM DEE92
SYNONYM ICEE2
MIM 600232 OMIM
HGNC HGNC:4082 HGNC
Ensembl ENSG00000145864 Ensembl
AllianceGenome HGNC:4082
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000520240.5 hg38 chr5 161,293,864 161,548,124 254,261
ENST00000517901.5 hg38 chr5 161,293,864 161,548,135 254,272
ENST00000675303.1 hg38 chr5 161,290,307 161,547,032 256,726
ENST00000675773.1 hg38 chr5 161,289,458 161,547,766 258,309
ENST00000675381.1 hg38 chr5 161,290,377 161,534,606 244,230
ENST00000274547.7 hg38 chr5 161,288,429 161,547,912 259,484
ENST00000353437.10 hg38 chr5 161,293,864 161,548,227 254,364
ENST00000517547.5 hg38 chr5 161,293,898 161,546,697 252,800
ENST00000393959.6 hg38 chr5 161,288,436 161,546,725 258,290
ENST00000274547.7 hg19 chr5 160,715,436 160,974,918 259,483
ENST00000393959.6 hg19 chr5 160,715,443 160,973,731 258,289
ENST00000353437.10 hg19 chr5 160,720,871 160,975,233 254,363
ENST00000517547.5 hg19 chr5 160,720,905 160,973,703 252,799
ENST00000517901.5 hg19 chr5 160,720,871 160,975,141 254,271
ENST00000520240.5 hg19 chr5 160,720,871 160,975,130 254,260
ENST00000675303.1 hg19 chr5 160,717,314 160,974,038 256,725
ENST00000675381.1 hg19 chr5 160,717,384 160,961,612 244,229
ENST00000675773.1 hg19 chr5 160,716,465 160,974,772 258,308
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