Canonical Allele Identifier: CA1139659244
Gene: GABRG2 HGNC NCBI

Linked Data

ClinVar Variation Id: 953695
ClinVar RCV Id: RCV001226027
dbSNP Id: rs1761620237

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.162103954del , CM000667.2:g.162103954del GRCh38
NC_000005.9:g.161530960del , CM000667.1:g.161530960del GRCh37
NC_000005.8:g.161463538del NCBI36
NG_009290.1:g.41313del

Transcript Alleles

HGVS Amino-acid change
ENST00000356592.8:c.659del
ENST00000361925.9:c.817del ENSP00000354651.5:p.Arg273AspfsTer13
ENST00000522053.2:n.588del
ENST00000523372.2:c.780del
ENST00000638552.1:c.412del ENSP00000491763.1:p.Arg138AspfsTer13
ENST00000638660.1:c.412del ENSP00000492869.1:p.Arg138AspfsTer13
ENST00000638772.1:c.697del ENSP00000491557.1:p.Arg233AspfsTer13
ENST00000638782.1:n.759del
ENST00000638877.1:c.574del
ENST00000639046.1:c.88del ENSP00000492659.1:p.Arg30AspfsTer13
ENST00000639111.2:c.697del ENSP00000492125.2:p.Arg233AspfsTer13
ENST00000639213.2:c.697del MANE Select ENSP00000491909.2:p.Arg233AspfsTer13
ENST00000639278.1:c.625del ENSP00000491958.1:p.Arg209AspfsTer13
ENST00000639384.1:c.697del ENSP00000491240.1:p.Arg233AspfsTer13
ENST00000639424.1:c.107+35848del ENSP00000491245.1:n.107+35848del
ENST00000639683.1:c.631del ENSP00000492581.1:p.Arg211AspfsTer13
ENST00000639975.1:c.631del ENSP00000492096.1:p.Arg211AspfsTer13
ENST00000640574.1:c.412del ENSP00000491582.1:p.Arg138AspfsTer13
ENST00000640739.1:n.3228del
ENST00000640910.1:c.135del
ENST00000640985.1:c.610del ENSP00000492293.1:p.Arg204AspfsTer13
ENST00000641017.1:c.697del ENSP00000493461.1:p.Arg233AspfsTer13
ENST00000356592.7:c.697del ENSP00000349000.3:p.Arg233AspfsTer13
ENST00000361925.8:c.697del ENSP00000354651.4:p.Arg233AspfsTer13
ENST00000414552.6:c.817del ENSP00000410732.2:p.Arg273AspfsTer13
ENST00000522053.1:c.412del ENSP00000430182.1:p.Arg138AspfsTer13
ENST00000522990.5:c.*299del ENSP00000430732.1:n.*299del
ENST00000523372.1:c.818del ENSP00000430124.1:n.818del
NM_000816.3:c.697del NP_000807.2:p.Arg233AspfsTer13
NM_198903.2:c.817del NP_944493.2:p.Arg273AspfsTer13
NM_198904.2:c.697del NP_944494.1:p.Arg233AspfsTer13
NM_001375339.1:c.688del NP_001362268.1:p.Arg230AspfsTer13
NM_001375340.1:c.697del NP_001362269.1:p.Arg233AspfsTer13
NM_001375341.1:c.697del NP_001362270.1:p.Arg233AspfsTer13
NM_001375342.1:c.697del NP_001362271.1:p.Arg233AspfsTer13
NM_001375343.1:c.817del NP_001362272.1:p.Arg273AspfsTer13
NM_001375344.1:c.697del NP_001362273.1:p.Arg233AspfsTer13
NM_001375345.1:c.631del NP_001362274.1:p.Arg211AspfsTer13
NM_001375346.1:c.631del NP_001362275.1:p.Arg211AspfsTer13
NM_001375347.1:c.610del NP_001362276.1:p.Arg204AspfsTer13
NM_001375348.1:c.277del NP_001362277.1:p.Arg93AspfsTer13
NM_001375349.1:c.412del NP_001362278.1:p.Arg138AspfsTer13
NM_001375350.1:c.277del NP_001362279.1:p.Arg93AspfsTer13
NM_198904.3:c.697del NP_944494.1:p.Arg233AspfsTer13
NM_198904.4:c.697del MANE Select NP_944494.1:p.Arg233AspfsTer13