Canonical Allele Identifier: CA1596380269
Gene: GABRG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.162149217_162149218delinsCT , CM000667.2:g.162149217_162149218delinsCT GRCh38
NC_000005.9:g.161576223_161576224delinsCT , CM000667.1:g.161576223_161576224delinsCT GRCh37
NC_000005.8:g.161508801_161508802delinsCT NCBI36
NG_009290.1:g.86576_86577delinsCT

Transcript Alleles

HGVS Amino-acid change
ENST00000356592.8:c.1033_1034delinsCT
ENST00000361925.9:c.1152_1153delinsCT ENSP00000354651.5:p.Ile384=
ENST00000523372.2:c.1115_1116delinsCT
ENST00000638253.1:n.286_287delinsCT
ENST00000638552.1:c.747_748delinsCT ENSP00000491763.1:p.Ile249=
ENST00000638660.1:c.747_748delinsCT ENSP00000492869.1:p.Ile249=
ENST00000638772.1:c.1032_1033delinsCT ENSP00000491557.1:p.Ile344=
ENST00000638877.1:c.909_910delinsCT
ENST00000639046.1:c.423_424delinsCT ENSP00000492659.1:p.Ile141=
ENST00000639111.2:c.1032_1033delinsCT ENSP00000492125.2:p.Ile344=
ENST00000639213.2:c.1032_1033delinsCT MANE Select ENSP00000491909.2:p.Ile344=
ENST00000639278.1:c.960_961delinsCT ENSP00000491958.1:p.Ile320=
ENST00000639384.1:c.1032_1033delinsCT ENSP00000491240.1:p.Ile344=
ENST00000639424.1:c.*232_*233delinsCT ENSP00000491245.1:n.*232_*233delinsCT
ENST00000639683.1:c.966_967delinsCT ENSP00000492581.1:p.Ile322=
ENST00000639975.1:c.966_967delinsCT ENSP00000492096.1:p.Ile322=
ENST00000640500.1:n.330_331delinsCT
ENST00000640574.1:c.747_748delinsCT ENSP00000491582.1:p.Ile249=
ENST00000640739.1:n.3563_3564delinsCT
ENST00000640910.1:c.470_471delinsCT
ENST00000640985.1:c.945_946delinsCT ENSP00000492293.1:p.Ile315=
ENST00000641017.1:c.1032_1033delinsCT ENSP00000493461.1:p.Ile344=
ENST00000356592.7:c.1032_1033delinsCT ENSP00000349000.3:p.Ile344=
ENST00000361925.8:c.1032_1033delinsCT ENSP00000354651.4:p.Ile344=
ENST00000414552.6:c.1152_1153delinsCT ENSP00000410732.2:p.Ile384=
ENST00000522990.5:c.*634_*635delinsCT ENSP00000430732.1:n.*634_*635delinsCT
ENST00000523372.1:c.1153_1154delinsCT ENSP00000430124.1:n.1153_1154delinsCT
NM_000816.3:c.1032_1033delinsCT NP_000807.2:p.Ile344=
NM_198903.2:c.1152_1153delinsCT NP_944493.2:p.Ile384=
NM_198904.2:c.1032_1033delinsCT NP_944494.1:p.Ile344=
NM_001375339.1:c.1023_1024delinsCT NP_001362268.1:p.Ile341=
NM_001375340.1:c.923-2513_923-2512delinsCT NP_001362269.1:n.923-2513_923-2512delinsC...
NM_001375341.1:c.1029_1030delinsCT NP_001362270.1:p.Ile343=
NM_001375342.1:c.1029_1030delinsCT NP_001362271.1:p.Ile343=
NM_001375343.1:c.1152_1153delinsCT NP_001362272.1:p.Ile384=
NM_001375344.1:c.1071_1072delinsCT NP_001362273.1:p.Ile357=
NM_001375345.1:c.966_967delinsCT NP_001362274.1:p.Ile322=
NM_001375346.1:c.966_967delinsCT NP_001362275.1:p.Ile322=
NM_001375347.1:c.945_946delinsCT NP_001362276.1:p.Ile315=
NM_001375348.1:c.612_613delinsCT NP_001362277.1:p.Ile204=
NM_001375349.1:c.747_748delinsCT NP_001362278.1:p.Ile249=
NM_001375350.1:c.612_613delinsCT NP_001362279.1:p.Ile204=
NM_198904.3:c.1032_1033delinsCT NP_944494.1:p.Ile344=
NM_198904.4:c.1032_1033delinsCT MANE Select NP_944494.1:p.Ile344=