Canonical Allele Identifier: CA2769171562
Gene: GABRG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.162149284_162149285insCACCC , CM000667.2:g.162149284_162149285insCACCC GRCh38
NC_000005.9:g.161576290_161576291insCACCC , CM000667.1:g.161576290_161576291insCACCC GRCh37
NC_000005.8:g.161508868_161508869insCACCC NCBI36
NG_009290.1:g.86643_86644insCACCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000356592.8:c.1100_1101insCACCC
ENST00000361925.9:c.1219_1220insCACCC ENSP00000354651.5:p.Lys407ThrfsTer27
ENST00000523372.2:c.1182_1183insCACCC
ENST00000638253.1:n.353_354insCACCC
ENST00000638552.1:c.814_815insCACCC ENSP00000491763.1:p.Lys272ThrfsTer27
ENST00000638660.1:c.814_815insCACCC ENSP00000492869.1:p.Lys272ThrfsTer?
ENST00000638772.1:c.1099_1100insCACCC ENSP00000491557.1:p.Lys367ThrfsTer29
ENST00000638877.1:c.976_977insCACCC
ENST00000639046.1:c.490_491insCACCC ENSP00000492659.1:p.Lys164ThrfsTer27
ENST00000639111.2:c.1099_1100insCACCC ENSP00000492125.2:p.Lys367ThrfsTer27
ENST00000639213.2:c.1099_1100insCACCC MANE Select ENSP00000491909.2:p.Lys367ThrfsTer?
ENST00000639278.1:c.1027_1028insCACCC ENSP00000491958.1:p.Lys343ThrfsTer17
ENST00000639384.1:c.1099_1100insCACCC ENSP00000491240.1:p.Lys367ThrfsTer?
ENST00000639424.1:c.*299_*300insCACCC ENSP00000491245.1:n.*299_*300insCACCC
ENST00000639683.1:c.1033_1034insCACCC ENSP00000492581.1:p.Lys345ThrfsTer?
ENST00000639975.1:c.1033_1034insCACCC ENSP00000492096.1:p.Lys345ThrfsTer27
ENST00000640500.1:n.397_398insCACCC
ENST00000640574.1:c.814_815insCACCC ENSP00000491582.1:p.Lys272ThrfsTer29
ENST00000640739.1:n.3630_3631insCACCC
ENST00000640910.1:c.537_538insCACCC
ENST00000640985.1:c.1012_1013insCACCC ENSP00000492293.1:p.Lys338ThrfsTer?
ENST00000641017.1:c.1099_1100insCACCC ENSP00000493461.1:p.Lys367ThrfsTer32
ENST00000356592.7:c.1099_1100insCACCC ENSP00000349000.3:p.Lys367ThrfsTer?
ENST00000361925.8:c.1099_1100insCACCC ENSP00000354651.4:p.Lys367ThrfsTer27
ENST00000414552.6:c.1219_1220insCACCC ENSP00000410732.2:p.Lys407ThrfsTer?
ENST00000522990.5:c.*701_*702insCACCC ENSP00000430732.1:n.*701_*702insCACCC
ENST00000523372.1:c.1220_1221insCACCC ENSP00000430124.1:n.1220_1221insCACCC
NM_000816.3:c.1099_1100insCACCC NP_000807.2:p.Lys367ThrfsTer27
NM_198903.2:c.1219_1220insCACCC NP_944493.2:p.Lys407ThrfsTer?
NM_198904.2:c.1099_1100insCACCC NP_944494.1:p.Lys367ThrfsTer?
NM_001375339.1:c.1090_1091insCACCC NP_001362268.1:p.Lys364ThrfsTer?
NM_001375340.1:c.923-2446_923-2445insCACCC NP_001362269.1:n.923-2446_923-2445insCACCC
NM_001375341.1:c.1096_1097insCACCC NP_001362270.1:p.Lys366ThrfsTer?
NM_001375342.1:c.1096_1097insCACCC NP_001362271.1:p.Lys366ThrfsTer27
NM_001375343.1:c.1219_1220insCACCC NP_001362272.1:p.Lys407ThrfsTer27
NM_001375344.1:c.1138_1139insCACCC NP_001362273.1:p.Lys380ThrfsTer?
NM_001375345.1:c.1033_1034insCACCC NP_001362274.1:p.Lys345ThrfsTer27
NM_001375346.1:c.1033_1034insCACCC NP_001362275.1:p.Lys345ThrfsTer?
NM_001375347.1:c.1012_1013insCACCC NP_001362276.1:p.Lys338ThrfsTer?
NM_001375348.1:c.679_680insCACCC NP_001362277.1:p.Lys227ThrfsTer27
NM_001375349.1:c.814_815insCACCC NP_001362278.1:p.Lys272ThrfsTer27
NM_001375350.1:c.679_680insCACCC NP_001362279.1:p.Lys227ThrfsTer?
NM_198904.3:c.1099_1100insCACCC NP_944494.1:p.Lys367ThrfsTer?
NM_198904.4:c.1099_1100insCACCC MANE Select NP_944494.1:p.Lys367ThrfsTer?