Canonical Allele Identifier: CA564438696

Gene: GABRG2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153217del , CM000667.2:g.162153217del	GRCh38
NC_000005.9:g.161580223del , CM000667.1:g.161580223del	GRCh37
NC_000005.8:g.161512801del	NCBI36
NG_009290.1:g.90576del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1278del
ENST00000361925.9:c.1373del	ENSP00000354651.5:p.Phe458SerfsTer?
ENST00000523372.2:c.1336del
ENST00000638253.1:n.531del
ENST00000638552.1:c.968del	ENSP00000491763.1:p.Phe323SerfsTer?
ENST00000638660.1:c.992del	ENSP00000492869.1:p.Phe331SerfsTer?
ENST00000638772.1:c.*3874del	ENSP00000491557.1:n.*3874del
ENST00000638877.1:c.1154del
ENST00000639046.1:c.644del	ENSP00000492659.1:p.Phe215SerfsTer?
ENST00000639111.2:c.1253del	ENSP00000492125.2:p.Phe418SerfsTer?
ENST00000639213.2:c.1277del MANE Select	ENSP00000491909.2:p.Phe426SerfsTer?
ENST00000639278.1:c.1940del	ENSP00000491958.1:n.1940del
ENST00000639384.1:c.*1458del	ENSP00000491240.1:n.*1458del
ENST00000639424.1:c.*477del	ENSP00000491245.1:n.*477del
ENST00000639683.1:c.1211del	ENSP00000492581.1:p.Phe404SerfsTer?
ENST00000639975.1:c.1187del	ENSP00000492096.1:p.Phe396SerfsTer?
ENST00000640500.1:n.551del
ENST00000640739.1:n.6224del
ENST00000640910.1:c.715del
ENST00000640985.1:c.1190del	ENSP00000492293.1:p.Phe397SerfsTer?
ENST00000641017.1:c.1346del	ENSP00000493461.1:p.Phe449SerfsTer?
ENST00000356592.7:c.1277del	ENSP00000349000.3:p.Phe426SerfsTer?
ENST00000361925.8:c.1253del	ENSP00000354651.4:p.Phe418SerfsTer?
ENST00000414552.6:c.1397del	ENSP00000410732.2:p.Phe466SerfsTer?
ENST00000522990.5:c.*855del	ENSP00000430732.1:n.*855del
ENST00000523372.1:c.1374del	ENSP00000430124.1:n.1374del
NM_000816.3:c.1253del	NP_000807.2:p.Phe418SerfsTer?
NM_198903.2:c.1397del	NP_944493.2:p.Phe466SerfsTer?
NM_198904.2:c.1277del	NP_944494.1:p.Phe426SerfsTer?
NM_001375339.1:c.1268del	NP_001362268.1:p.Phe423SerfsTer?
NM_001375340.1:c.*111del	NP_001362269.1:n.*111del
NM_001375341.1:c.1274del	NP_001362270.1:p.Phe425SerfsTer?
NM_001375342.1:c.1250del	NP_001362271.1:p.Phe417SerfsTer?
NM_001375343.1:c.1373del	NP_001362272.1:p.Phe458SerfsTer?
NM_001375344.1:c.1316del	NP_001362273.1:p.Phe439SerfsTer?
NM_001375345.1:c.1187del	NP_001362274.1:p.Phe396SerfsTer?
NM_001375346.1:c.1211del	NP_001362275.1:p.Phe404SerfsTer?
NM_001375347.1:c.1190del	NP_001362276.1:p.Phe397SerfsTer?
NM_001375348.1:c.833del	NP_001362277.1:p.Phe278SerfsTer?
NM_001375349.1:c.968del	NP_001362278.1:p.Phe323SerfsTer?
NM_001375350.1:c.857del	NP_001362279.1:p.Phe286SerfsTer?
NM_198904.3:c.1277del	NP_944494.1:p.Phe426SerfsTer?
NM_198904.4:c.1277del MANE Select	NP_944494.1:p.Phe426SerfsTer?