Canonical Allele Identifier: CA2740094180

Gene: GABRG2

Linked Data

• ClinVar Variation Id: 2922637
• ClinVar RCV Id: RCV003787803

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153307_162153310del , CM000667.2:g.162153307_162153310del	GRCh38
NC_000005.9:g.161580313_161580316del , CM000667.1:g.161580313_161580316del	GRCh37
NC_000005.8:g.161512891_161512894del	NCBI36
NG_009290.1:g.90666_90669del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1368_1371del
ENST00000361925.9:c.1463_1466del	ENSP00000354651.5:p.Phe488SerfsTer?
ENST00000523372.2:c.1426_1429del
ENST00000638253.1:n.621_624del
ENST00000638552.1:c.1058_1061del	ENSP00000491763.1:p.Phe353SerfsTer?
ENST00000638660.1:c.1082_1085del	ENSP00000492869.1:p.Phe361SerfsTer?
ENST00000638772.1:c.*3964_*3967del	ENSP00000491557.1:n.*3964_*3967del
ENST00000638877.1:c.1244_1247del
ENST00000639046.1:c.734_737del	ENSP00000492659.1:p.Phe245SerfsTer?
ENST00000639111.2:c.1343_1346del	ENSP00000492125.2:p.Phe448SerfsTer?
ENST00000639213.2:c.1367_1370del MANE Select	ENSP00000491909.2:p.Phe456SerfsTer?
ENST00000639278.1:c.2030_2033del	ENSP00000491958.1:n.2030_2033del
ENST00000639384.1:c.*1548_*1551del	ENSP00000491240.1:n.*1548_*1551del
ENST00000639424.1:c.*567_*570del	ENSP00000491245.1:n.*567_*570del
ENST00000639683.1:c.1301_1304del	ENSP00000492581.1:p.Phe434SerfsTer?
ENST00000639975.1:c.1277_1280del	ENSP00000492096.1:p.Phe426SerfsTer?
ENST00000640500.1:n.641_644del
ENST00000640739.1:n.6314_6317del
ENST00000640910.1:c.805_808del
ENST00000640985.1:c.1280_1283del	ENSP00000492293.1:p.Phe427SerfsTer?
ENST00000641017.1:c.1436_1439del	ENSP00000493461.1:p.Phe479SerfsTer?
ENST00000356592.7:c.1367_1370del	ENSP00000349000.3:p.Phe456SerfsTer?
ENST00000361925.8:c.1343_1346del	ENSP00000354651.4:p.Phe448SerfsTer?
ENST00000414552.6:c.1487_1490del	ENSP00000410732.2:p.Phe496SerfsTer?
ENST00000522990.5:c.*945_*948del	ENSP00000430732.1:n.*945_*948del
ENST00000523372.1:c.1464_1467del	ENSP00000430124.1:n.1464_1467del
NM_000816.3:c.1343_1346del	NP_000807.2:p.Phe448SerfsTer?
NM_198903.2:c.1487_1490del	NP_944493.2:p.Phe496SerfsTer?
NM_198904.2:c.1367_1370del	NP_944494.1:p.Phe456SerfsTer?
NM_001375339.1:c.1358_1361del	NP_001362268.1:p.Phe453SerfsTer?
NM_001375340.1:c.*201_*204del	NP_001362269.1:n.*201_*204del
NM_001375341.1:c.1364_1367del	NP_001362270.1:p.Phe455SerfsTer?
NM_001375342.1:c.1340_1343del	NP_001362271.1:p.Phe447SerfsTer?
NM_001375343.1:c.1463_1466del	NP_001362272.1:p.Phe488SerfsTer?
NM_001375344.1:c.1406_1409del	NP_001362273.1:p.Phe469SerfsTer?
NM_001375345.1:c.1277_1280del	NP_001362274.1:p.Phe426SerfsTer?
NM_001375346.1:c.1301_1304del	NP_001362275.1:p.Phe434SerfsTer?
NM_001375347.1:c.1280_1283del	NP_001362276.1:p.Phe427SerfsTer?
NM_001375348.1:c.923_926del	NP_001362277.1:p.Phe308SerfsTer?
NM_001375349.1:c.1058_1061del	NP_001362278.1:p.Phe353SerfsTer?
NM_001375350.1:c.947_950del	NP_001362279.1:p.Phe316SerfsTer?
NM_198904.3:c.1367_1370del	NP_944494.1:p.Phe456SerfsTer?
NM_198904.4:c.1367_1370del MANE Select	NP_944494.1:p.Phe456SerfsTer?