Canonical Allele Identifier: CA2695205687
Gene: GABRG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.162149262del , CM000667.2:g.162149262del GRCh38
NC_000005.9:g.161576268del , CM000667.1:g.161576268del GRCh37
NC_000005.8:g.161508846del NCBI36
NG_009290.1:g.86621del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356592.8:c.1078del
ENST00000361925.9:c.1197del ENSP00000354651.5:p.Phe399LeufsTer?
ENST00000523372.2:c.1160del
ENST00000638253.1:n.331del
ENST00000638552.1:c.792del ENSP00000491763.1:p.Phe264LeufsTer?
ENST00000638660.1:c.792del ENSP00000492869.1:p.Phe264LeufsTer?
ENST00000638772.1:c.1077del ENSP00000491557.1:p.Phe359LeufsTer?
ENST00000638877.1:c.954del
ENST00000639046.1:c.468del ENSP00000492659.1:p.Phe156LeufsTer?
ENST00000639111.2:c.1077del ENSP00000492125.2:p.Phe359LeufsTer?
ENST00000639213.2:c.1077del MANE Select ENSP00000491909.2:p.Phe359LeufsTer?
ENST00000639278.1:c.1005del ENSP00000491958.1:p.Phe335LeufsTer23
ENST00000639384.1:c.1077del ENSP00000491240.1:p.Phe359LeufsTer?
ENST00000639424.1:c.*277del ENSP00000491245.1:n.*277del
ENST00000639683.1:c.1011del ENSP00000492581.1:p.Phe337LeufsTer?
ENST00000639975.1:c.1011del ENSP00000492096.1:p.Phe337LeufsTer?
ENST00000640500.1:n.375del
ENST00000640574.1:c.792del ENSP00000491582.1:p.Phe264LeufsTer?
ENST00000640739.1:n.3608del
ENST00000640910.1:c.515del
ENST00000640985.1:c.990del ENSP00000492293.1:p.Phe330LeufsTer?
ENST00000641017.1:c.1077del ENSP00000493461.1:p.Phe359LeufsTer?
ENST00000356592.7:c.1077del ENSP00000349000.3:p.Phe359LeufsTer?
ENST00000361925.8:c.1077del ENSP00000354651.4:p.Phe359LeufsTer?
ENST00000414552.6:c.1197del ENSP00000410732.2:p.Phe399LeufsTer?
ENST00000522990.5:c.*679del ENSP00000430732.1:n.*679del
ENST00000523372.1:c.1198del ENSP00000430124.1:n.1198del
NM_000816.3:c.1077del NP_000807.2:p.Phe359LeufsTer?
NM_198903.2:c.1197del NP_944493.2:p.Phe399LeufsTer?
NM_198904.2:c.1077del NP_944494.1:p.Phe359LeufsTer?
NM_001375339.1:c.1068del NP_001362268.1:p.Phe356LeufsTer?
NM_001375340.1:c.923-2468del NP_001362269.1:n.923-2468del
NM_001375341.1:c.1074del NP_001362270.1:p.Phe358LeufsTer?
NM_001375342.1:c.1074del NP_001362271.1:p.Phe358LeufsTer?
NM_001375343.1:c.1197del NP_001362272.1:p.Phe399LeufsTer?
NM_001375344.1:c.1116del NP_001362273.1:p.Phe372LeufsTer?
NM_001375345.1:c.1011del NP_001362274.1:p.Phe337LeufsTer?
NM_001375346.1:c.1011del NP_001362275.1:p.Phe337LeufsTer?
NM_001375347.1:c.990del NP_001362276.1:p.Phe330LeufsTer?
NM_001375348.1:c.657del NP_001362277.1:p.Phe219LeufsTer?
NM_001375349.1:c.792del NP_001362278.1:p.Phe264LeufsTer?
NM_001375350.1:c.657del NP_001362279.1:p.Phe219LeufsTer?
NM_198904.3:c.1077del NP_944494.1:p.Phe359LeufsTer?
NM_198904.4:c.1077del MANE Select NP_944494.1:p.Phe359LeufsTer?