Canonical Allele Identifier: CA2740094171

Gene: GABRG2

Linked Data

• ClinVar Variation Id: 2951015
• ClinVar RCV Id: RCV003802277

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162103911_162103921del , CM000667.2:g.162103911_162103921del	GRCh38
NC_000005.9:g.161530917_161530927del , CM000667.1:g.161530917_161530927del	GRCh37
NC_000005.8:g.161463495_161463505del	NCBI36
NG_009290.1:g.41270_41280del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.616_626del
ENST00000361925.9:c.774_784del	ENSP00000354651.5:p.Ile258MetfsTer7
ENST00000522053.2:n.545_555del
ENST00000523372.2:c.737_747del
ENST00000638552.1:c.369_379del	ENSP00000491763.1:p.Ile123MetfsTer7
ENST00000638660.1:c.369_379del	ENSP00000492869.1:p.Ile123MetfsTer7
ENST00000638772.1:c.654_664del	ENSP00000491557.1:p.Ile218MetfsTer7
ENST00000638782.1:n.716_726del
ENST00000638877.1:c.531_541del
ENST00000639046.1:c.45_55del	ENSP00000492659.1:p.Ile15MetfsTer7
ENST00000639111.2:c.654_664del	ENSP00000492125.2:p.Ile218MetfsTer7
ENST00000639213.2:c.654_664del MANE Select	ENSP00000491909.2:p.Ile218MetfsTer7
ENST00000639278.1:c.582_592del	ENSP00000491958.1:p.Ile194MetfsTer7
ENST00000639384.1:c.654_664del	ENSP00000491240.1:p.Ile218MetfsTer7
ENST00000639424.1:c.107+35805_107+35815del	ENSP00000491245.1:n.107+35805_107+35815del
ENST00000639683.1:c.588_598del	ENSP00000492581.1:p.Ile196MetfsTer7
ENST00000639975.1:c.588_598del	ENSP00000492096.1:p.Ile196MetfsTer7
ENST00000640574.1:c.369_379del	ENSP00000491582.1:p.Ile123MetfsTer7
ENST00000640739.1:n.3185_3195del
ENST00000640910.1:c.92_102del
ENST00000640985.1:c.567_577del	ENSP00000492293.1:p.Ile189MetfsTer7
ENST00000641017.1:c.654_664del	ENSP00000493461.1:p.Ile218MetfsTer7
ENST00000356592.7:c.654_664del	ENSP00000349000.3:p.Ile218MetfsTer7
ENST00000361925.8:c.654_664del	ENSP00000354651.4:p.Ile218MetfsTer7
ENST00000414552.6:c.774_784del	ENSP00000410732.2:p.Ile258MetfsTer7
ENST00000522053.1:c.369_379del	ENSP00000430182.1:p.Ile123MetfsTer7
ENST00000522990.5:c.*256_*266del	ENSP00000430732.1:n.*256_*266del
ENST00000523372.1:c.775_785del	ENSP00000430124.1:n.775_785del
NM_000816.3:c.654_664del	NP_000807.2:p.Ile218MetfsTer7
NM_198903.2:c.774_784del	NP_944493.2:p.Ile258MetfsTer7
NM_198904.2:c.654_664del	NP_944494.1:p.Ile218MetfsTer7
NM_001375339.1:c.645_655del	NP_001362268.1:p.Ile215MetfsTer7
NM_001375340.1:c.654_664del	NP_001362269.1:p.Ile218MetfsTer7
NM_001375341.1:c.654_664del	NP_001362270.1:p.Ile218MetfsTer7
NM_001375342.1:c.654_664del	NP_001362271.1:p.Ile218MetfsTer7
NM_001375343.1:c.774_784del	NP_001362272.1:p.Ile258MetfsTer7
NM_001375344.1:c.654_664del	NP_001362273.1:p.Ile218MetfsTer7
NM_001375345.1:c.588_598del	NP_001362274.1:p.Ile196MetfsTer7
NM_001375346.1:c.588_598del	NP_001362275.1:p.Ile196MetfsTer7
NM_001375347.1:c.567_577del	NP_001362276.1:p.Ile189MetfsTer7
NM_001375348.1:c.234_244del	NP_001362277.1:p.Ile78MetfsTer7
NM_001375349.1:c.369_379del	NP_001362278.1:p.Ile123MetfsTer7
NM_001375350.1:c.234_244del	NP_001362279.1:p.Ile78MetfsTer7
NM_198904.3:c.654_664del	NP_944494.1:p.Ile218MetfsTer7
NM_198904.4:c.654_664del MANE Select	NP_944494.1:p.Ile218MetfsTer7