Canonical Allele Identifier: CA1596382227
Gene: GABRG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.162153305C= , CM000667.2:g.162153305C= GRCh38
NC_000005.9:g.161580311C= , CM000667.1:g.161580311C= GRCh37
NC_000005.8:g.161512889C= NCBI36
NG_009290.1:g.90664C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356592.8:c.1366C=
ENST00000361925.9:c.1461C= ENSP00000354651.5:p.Ile487=
ENST00000523372.2:c.1424C=
ENST00000638253.1:n.619C=
ENST00000638552.1:c.1056C= ENSP00000491763.1:p.Ile352=
ENST00000638660.1:c.1080C= ENSP00000492869.1:p.Ile360=
ENST00000638772.1:c.*3962C= ENSP00000491557.1:n.*3962C=
ENST00000638877.1:c.1242C=
ENST00000639046.1:c.732C= ENSP00000492659.1:p.Ile244=
ENST00000639111.2:c.1341C= ENSP00000492125.2:p.Ile447=
ENST00000639213.2:c.1365C= MANE Select ENSP00000491909.2:p.Ile455=
ENST00000639278.1:c.2028C= ENSP00000491958.1:n.2028C=
ENST00000639384.1:c.*1546C= ENSP00000491240.1:n.*1546C=
ENST00000639424.1:c.*565C= ENSP00000491245.1:n.*565C=
ENST00000639683.1:c.1299C= ENSP00000492581.1:p.Ile433=
ENST00000639975.1:c.1275C= ENSP00000492096.1:p.Ile425=
ENST00000640500.1:n.639C=
ENST00000640739.1:n.6312C=
ENST00000640910.1:c.803C=
ENST00000640985.1:c.1278C= ENSP00000492293.1:p.Ile426=
ENST00000641017.1:c.1434C= ENSP00000493461.1:p.Ile478=
ENST00000356592.7:c.1365C= ENSP00000349000.3:p.Ile455=
ENST00000361925.8:c.1341C= ENSP00000354651.4:p.Ile447=
ENST00000414552.6:c.1485C= ENSP00000410732.2:p.Ile495=
ENST00000522990.5:c.*943C= ENSP00000430732.1:n.*943C=
ENST00000523372.1:c.1462C= ENSP00000430124.1:n.1462C=
NM_000816.3:c.1341C= NP_000807.2:p.Ile447=
NM_198903.2:c.1485C= NP_944493.2:p.Ile495=
NM_198904.2:c.1365C= NP_944494.1:p.Ile455=
NM_001375339.1:c.1356C= NP_001362268.1:p.Ile452=
NM_001375340.1:c.*199C= NP_001362269.1:n.*199C=
NM_001375341.1:c.1362C= NP_001362270.1:p.Ile454=
NM_001375342.1:c.1338C= NP_001362271.1:p.Ile446=
NM_001375343.1:c.1461C= NP_001362272.1:p.Ile487=
NM_001375344.1:c.1404C= NP_001362273.1:p.Ile468=
NM_001375345.1:c.1275C= NP_001362274.1:p.Ile425=
NM_001375346.1:c.1299C= NP_001362275.1:p.Ile433=
NM_001375347.1:c.1278C= NP_001362276.1:p.Ile426=
NM_001375348.1:c.921C= NP_001362277.1:p.Ile307=
NM_001375349.1:c.1056C= NP_001362278.1:p.Ile352=
NM_001375350.1:c.945C= NP_001362279.1:p.Ile315=
NM_198904.3:c.1365C= NP_944494.1:p.Ile455=
NM_198904.4:c.1365C= MANE Select NP_944494.1:p.Ile455=