Canonical Allele Identifier: CA2676329346

Gene: GABRG2

Linked Data

• gnomAD v4: 5-162149265-CAGCAACCGGAAACCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162149271_162149285del , CM000667.2:g.162149271_162149285del	GRCh38
NC_000005.9:g.161576277_161576291del , CM000667.1:g.161576277_161576291del	GRCh37
NC_000005.8:g.161508855_161508869del	NCBI36
NG_009290.1:g.86630_86644del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1087_1101del
ENST00000361925.9:c.1206_1220del	ENSP00000354651.5:p.Asn402_Ser406del
ENST00000523372.2:c.1169_1183del
ENST00000638253.1:n.340_354del
ENST00000638552.1:c.801_815del	ENSP00000491763.1:p.Asn267_Ser271del
ENST00000638660.1:c.801_815del	ENSP00000492869.1:p.Asn267_Ser271del
ENST00000638772.1:c.1086_1100del	ENSP00000491557.1:p.Asn362_Ser366del
ENST00000638877.1:c.963_977del
ENST00000639046.1:c.477_491del	ENSP00000492659.1:p.Asn159_Ser163del
ENST00000639111.2:c.1086_1100del	ENSP00000492125.2:p.Asn362_Ser366del
ENST00000639213.2:c.1086_1100del MANE Select	ENSP00000491909.2:p.Asn362_Ser366del
ENST00000639278.1:c.1014_1028del	ENSP00000491958.1:p.Asn338_Ser342del
ENST00000639384.1:c.1086_1100del	ENSP00000491240.1:p.Asn362_Ser366del
ENST00000639424.1:c.*286_*300del	ENSP00000491245.1:n.*286_*300del
ENST00000639683.1:c.1020_1034del	ENSP00000492581.1:p.Asn340_Ser344del
ENST00000639975.1:c.1020_1034del	ENSP00000492096.1:p.Asn340_Ser344del
ENST00000640500.1:n.384_398del
ENST00000640574.1:c.801_815del	ENSP00000491582.1:p.Asn267_Ser271del
ENST00000640739.1:n.3617_3631del
ENST00000640910.1:c.524_538del
ENST00000640985.1:c.999_1013del	ENSP00000492293.1:p.Asn333_Ser337del
ENST00000641017.1:c.1086_1100del	ENSP00000493461.1:p.Asn362_Ser366del
ENST00000356592.7:c.1086_1100del	ENSP00000349000.3:p.Asn362_Ser366del
ENST00000361925.8:c.1086_1100del	ENSP00000354651.4:p.Asn362_Ser366del
ENST00000414552.6:c.1206_1220del	ENSP00000410732.2:p.Asn402_Ser406del
ENST00000522990.5:c.*688_*702del	ENSP00000430732.1:n.*688_*702del
ENST00000523372.1:c.1207_1221del	ENSP00000430124.1:n.1207_1221del
NM_000816.3:c.1086_1100del	NP_000807.2:p.Asn362_Ser366del
NM_198903.2:c.1206_1220del	NP_944493.2:p.Asn402_Ser406del
NM_198904.2:c.1086_1100del	NP_944494.1:p.Asn362_Ser366del
NM_001375339.1:c.1077_1091del	NP_001362268.1:p.Asn359_Ser363del
NM_001375340.1:c.923-2459_923-2445del	NP_001362269.1:n.923-2459_923-2445del
NM_001375341.1:c.1083_1097del	NP_001362270.1:p.Asn361_Ser365del
NM_001375342.1:c.1083_1097del	NP_001362271.1:p.Asn361_Ser365del
NM_001375343.1:c.1206_1220del	NP_001362272.1:p.Asn402_Ser406del
NM_001375344.1:c.1125_1139del	NP_001362273.1:p.Asn375_Ser379del
NM_001375345.1:c.1020_1034del	NP_001362274.1:p.Asn340_Ser344del
NM_001375346.1:c.1020_1034del	NP_001362275.1:p.Asn340_Ser344del
NM_001375347.1:c.999_1013del	NP_001362276.1:p.Asn333_Ser337del
NM_001375348.1:c.666_680del	NP_001362277.1:p.Asn222_Ser226del
NM_001375349.1:c.801_815del	NP_001362278.1:p.Asn267_Ser271del
NM_001375350.1:c.666_680del	NP_001362279.1:p.Asn222_Ser226del
NM_198904.3:c.1086_1100del	NP_944494.1:p.Asn362_Ser366del
NM_198904.4:c.1086_1100del MANE Select	NP_944494.1:p.Asn362_Ser366del