Canonical Allele Identifier: CA10582412
Gene: GABRG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.162097840del , CM000667.2:g.162097840del GRCh38
NC_000005.9:g.161524846del , CM000667.1:g.161524846del GRCh37
NC_000005.8:g.161457424del NCBI36
NG_009290.1:g.35199del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356592.8:c.492del
ENST00000361925.9:c.530del ENSP00000354651.5:p.Arg177GlnfsTer6
ENST00000522053.2:n.421del
ENST00000523372.2:c.613del
ENST00000638552.1:c.245del ENSP00000491763.1:p.Arg82GlnfsTer6
ENST00000638660.1:c.245del ENSP00000492869.1:p.Arg82GlnfsTer6
ENST00000638772.1:c.530del ENSP00000491557.1:p.Arg177GlnfsTer6
ENST00000638782.1:n.592del
ENST00000638877.1:c.407del
ENST00000639046.1:c.23-6049del ENSP00000492659.1:n.23-6049del
ENST00000639111.2:c.530del ENSP00000492125.2:p.Arg177GlnfsTer6
ENST00000639213.2:c.530del MANE Select ENSP00000491909.2:p.Arg177GlnfsTer6
ENST00000639278.1:c.458del ENSP00000491958.1:p.Arg153GlnfsTer6
ENST00000639384.1:c.530del ENSP00000491240.1:p.Arg177GlnfsTer6
ENST00000639424.1:c.107+29734del ENSP00000491245.1:n.107+29734del
ENST00000639554.1:n.490del
ENST00000639683.1:c.464del ENSP00000492581.1:p.Arg155GlnfsTer6
ENST00000639975.1:c.464del ENSP00000492096.1:p.Arg155GlnfsTer6
ENST00000640574.1:c.245del ENSP00000491582.1:p.Arg82GlnfsTer6
ENST00000640739.1:n.490del
ENST00000640910.1:c.70-6049del
ENST00000640985.1:c.443del ENSP00000492293.1:p.Arg148GlnfsTer6
ENST00000641017.1:c.530del ENSP00000493461.1:p.Arg177GlnfsTer6
ENST00000356592.7:c.530del ENSP00000349000.3:p.Arg177GlnfsTer6
ENST00000361925.8:c.530del ENSP00000354651.4:p.Arg177GlnfsTer6
ENST00000414552.6:c.530del ENSP00000410732.2:p.Arg177GlnfsTer6
ENST00000522053.1:c.245del ENSP00000430182.1:p.Arg82GlnfsTer6
ENST00000522990.5:c.*132del ENSP00000430732.1:n.*132del
ENST00000523372.1:c.651del ENSP00000430124.1:n.651del
NM_000816.3:c.530del NP_000807.2:p.Arg177GlnfsTer6
NM_198903.2:c.530del NP_944493.2:p.Arg177GlnfsTer6
NM_198904.2:c.530del NP_944494.1:p.Arg177GlnfsTer6
NM_001375339.1:c.521del NP_001362268.1:p.Arg174GlnfsTer6
NM_001375340.1:c.530del NP_001362269.1:p.Arg177GlnfsTer6
NM_001375341.1:c.530del NP_001362270.1:p.Arg177GlnfsTer6
NM_001375342.1:c.530del NP_001362271.1:p.Arg177GlnfsTer6
NM_001375343.1:c.530del NP_001362272.1:p.Arg177GlnfsTer6
NM_001375344.1:c.530del NP_001362273.1:p.Arg177GlnfsTer6
NM_001375345.1:c.464del NP_001362274.1:p.Arg155GlnfsTer6
NM_001375346.1:c.464del NP_001362275.1:p.Arg155GlnfsTer6
NM_001375347.1:c.443del NP_001362276.1:p.Arg148GlnfsTer6
NM_001375348.1:c.110del NP_001362277.1:p.Arg37GlnfsTer6
NM_001375349.1:c.245del NP_001362278.1:p.Arg82GlnfsTer6
NM_001375350.1:c.110del NP_001362279.1:p.Arg37GlnfsTer6
NM_198904.3:c.530del NP_944494.1:p.Arg177GlnfsTer6
NM_198904.4:c.530del MANE Select NP_944494.1:p.Arg177GlnfsTer6