Canonical Allele Identifier: CA2676329347

Gene: GABRG2

Linked Data

• gnomAD v4: 5-162149272-C-CGGA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162149273_162149275dup , CM000667.2:g.162149273_162149275dup	GRCh38
NC_000005.9:g.161576279_161576281dup , CM000667.1:g.161576279_161576281dup	GRCh37
NC_000005.8:g.161508857_161508859dup	NCBI36
NG_009290.1:g.86632_86634dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1089_1091dup
ENST00000361925.9:c.1208_1210dup	ENSP00000354651.5:p.Arg403_Lys404insArg
ENST00000523372.2:c.1171_1173dup
ENST00000638253.1:n.342_344dup
ENST00000638552.1:c.803_805dup	ENSP00000491763.1:p.Arg268_Lys269insArg
ENST00000638660.1:c.803_805dup	ENSP00000492869.1:p.Arg268_Lys269insArg
ENST00000638772.1:c.1088_1090dup	ENSP00000491557.1:p.Arg363_Lys364insArg
ENST00000638877.1:c.965_967dup
ENST00000639046.1:c.479_481dup	ENSP00000492659.1:p.Arg160_Lys161insArg
ENST00000639111.2:c.1088_1090dup	ENSP00000492125.2:p.Arg363_Lys364insArg
ENST00000639213.2:c.1088_1090dup MANE Select	ENSP00000491909.2:p.Arg363_Lys364insArg
ENST00000639278.1:c.1016_1018dup	ENSP00000491958.1:p.Arg339_Lys340insArg
ENST00000639384.1:c.1088_1090dup	ENSP00000491240.1:p.Arg363_Lys364insArg
ENST00000639424.1:c.*288_*290dup	ENSP00000491245.1:n.*288_*290dup
ENST00000639683.1:c.1022_1024dup	ENSP00000492581.1:p.Arg341_Lys342insArg
ENST00000639975.1:c.1022_1024dup	ENSP00000492096.1:p.Arg341_Lys342insArg
ENST00000640500.1:n.386_388dup
ENST00000640574.1:c.803_805dup	ENSP00000491582.1:p.Arg268_Lys269insArg
ENST00000640739.1:n.3619_3621dup
ENST00000640910.1:c.526_528dup
ENST00000640985.1:c.1001_1003dup	ENSP00000492293.1:p.Arg334_Lys335insArg
ENST00000641017.1:c.1088_1090dup	ENSP00000493461.1:p.Arg363_Lys364insArg
ENST00000356592.7:c.1088_1090dup	ENSP00000349000.3:p.Arg363_Lys364insArg
ENST00000361925.8:c.1088_1090dup	ENSP00000354651.4:p.Arg363_Lys364insArg
ENST00000414552.6:c.1208_1210dup	ENSP00000410732.2:p.Arg403_Lys404insArg
ENST00000522990.5:c.*690_*692dup	ENSP00000430732.1:n.*690_*692dup
ENST00000523372.1:c.1209_1211dup	ENSP00000430124.1:n.1209_1211dup
NM_000816.3:c.1088_1090dup	NP_000807.2:p.Arg363_Lys364insArg
NM_198903.2:c.1208_1210dup	NP_944493.2:p.Arg403_Lys404insArg
NM_198904.2:c.1088_1090dup	NP_944494.1:p.Arg363_Lys364insArg
NM_001375339.1:c.1079_1081dup	NP_001362268.1:p.Arg360_Lys361insArg
NM_001375340.1:c.923-2457_923-2455dup	NP_001362269.1:n.923-2457_923-2455dup
NM_001375341.1:c.1085_1087dup	NP_001362270.1:p.Arg362_Lys363insArg
NM_001375342.1:c.1085_1087dup	NP_001362271.1:p.Arg362_Lys363insArg
NM_001375343.1:c.1208_1210dup	NP_001362272.1:p.Arg403_Lys404insArg
NM_001375344.1:c.1127_1129dup	NP_001362273.1:p.Arg376_Lys377insArg
NM_001375345.1:c.1022_1024dup	NP_001362274.1:p.Arg341_Lys342insArg
NM_001375346.1:c.1022_1024dup	NP_001362275.1:p.Arg341_Lys342insArg
NM_001375347.1:c.1001_1003dup	NP_001362276.1:p.Arg334_Lys335insArg
NM_001375348.1:c.668_670dup	NP_001362277.1:p.Arg223_Lys224insArg
NM_001375349.1:c.803_805dup	NP_001362278.1:p.Arg268_Lys269insArg
NM_001375350.1:c.668_670dup	NP_001362279.1:p.Arg223_Lys224insArg
NM_198904.3:c.1088_1090dup	NP_944494.1:p.Arg363_Lys364insArg
NM_198904.4:c.1088_1090dup MANE Select	NP_944494.1:p.Arg363_Lys364insArg