Canonical Allele Identifier: CA2695205691
Gene: GABRG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.162153314del , CM000667.2:g.162153314del GRCh38
NC_000005.9:g.161580320del , CM000667.1:g.161580320del GRCh37
NC_000005.8:g.161512898del NCBI36
NG_009290.1:g.90673del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356592.8:c.1375del
ENST00000361925.9:c.1470del ENSP00000354651.5:p.Thr491LeufsTer?
ENST00000523372.2:c.1433del
ENST00000638253.1:n.628del
ENST00000638552.1:c.1065del ENSP00000491763.1:p.Thr356LeufsTer?
ENST00000638660.1:c.1089del ENSP00000492869.1:p.Thr364LeufsTer?
ENST00000638772.1:c.*3971del ENSP00000491557.1:n.*3971del
ENST00000638877.1:c.1251del
ENST00000639046.1:c.741del ENSP00000492659.1:p.Thr248LeufsTer?
ENST00000639111.2:c.1350del ENSP00000492125.2:p.Thr451LeufsTer?
ENST00000639213.2:c.1374del MANE Select ENSP00000491909.2:p.Thr459LeufsTer?
ENST00000639278.1:c.2037del ENSP00000491958.1:n.2037del
ENST00000639384.1:c.*1555del ENSP00000491240.1:n.*1555del
ENST00000639424.1:c.*574del ENSP00000491245.1:n.*574del
ENST00000639683.1:c.1308del ENSP00000492581.1:p.Thr437LeufsTer?
ENST00000639975.1:c.1284del ENSP00000492096.1:p.Thr429LeufsTer?
ENST00000640500.1:n.648del
ENST00000640739.1:n.6321del
ENST00000640910.1:c.812del
ENST00000640985.1:c.1287del ENSP00000492293.1:p.Thr430LeufsTer?
ENST00000641017.1:c.1443del ENSP00000493461.1:p.Thr482LeufsTer?
ENST00000356592.7:c.1374del ENSP00000349000.3:p.Thr459LeufsTer?
ENST00000361925.8:c.1350del ENSP00000354651.4:p.Thr451LeufsTer?
ENST00000414552.6:c.1494del ENSP00000410732.2:p.Thr499LeufsTer?
ENST00000522990.5:c.*952del ENSP00000430732.1:n.*952del
ENST00000523372.1:c.1471del ENSP00000430124.1:n.1471del
NM_000816.3:c.1350del NP_000807.2:p.Thr451LeufsTer?
NM_198903.2:c.1494del NP_944493.2:p.Thr499LeufsTer?
NM_198904.2:c.1374del NP_944494.1:p.Thr459LeufsTer?
NM_001375339.1:c.1365del NP_001362268.1:p.Thr456LeufsTer?
NM_001375340.1:c.*208del NP_001362269.1:n.*208del
NM_001375341.1:c.1371del NP_001362270.1:p.Thr458LeufsTer?
NM_001375342.1:c.1347del NP_001362271.1:p.Thr450LeufsTer?
NM_001375343.1:c.1470del NP_001362272.1:p.Thr491LeufsTer?
NM_001375344.1:c.1413del NP_001362273.1:p.Thr472LeufsTer?
NM_001375345.1:c.1284del NP_001362274.1:p.Thr429LeufsTer?
NM_001375346.1:c.1308del NP_001362275.1:p.Thr437LeufsTer?
NM_001375347.1:c.1287del NP_001362276.1:p.Thr430LeufsTer?
NM_001375348.1:c.930del NP_001362277.1:p.Thr311LeufsTer?
NM_001375349.1:c.1065del NP_001362278.1:p.Thr356LeufsTer?
NM_001375350.1:c.954del NP_001362279.1:p.Thr319LeufsTer?
NM_198904.3:c.1374del NP_944494.1:p.Thr459LeufsTer?
NM_198904.4:c.1374del MANE Select NP_944494.1:p.Thr459LeufsTer?