Canonical Allele Identifier: CA1596381982
Community Standard Title: NM_198904.4(GABRG2):c.1192C= (p.Gln398=)
Gene: GABRG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.162153132C= , CM000667.2:g.162153132C= GRCh38
NC_000005.9:g.161580138C= , CM000667.1:g.161580138C= GRCh37
NC_000005.8:g.161512716C= NCBI36
NG_009290.1:g.90491C=

Transcript Alleles

HGVS Amino-acid Change
NM_198904.4:c.1192C= MANE Select NP_944494.1:p.Gln398=
ENST00000639213.2:c.1192C= MANE Select ENSP00000491909.2:p.Gln398=
NM_000816.3:c.1168C= NP_000807.2:p.Gln390=
NM_001375339.1:c.1183C= NP_001362268.1:p.Gln395=
NM_001375340.1:c.*26C= NP_001362269.1:n.*26C=
NM_001375341.1:c.1189C= NP_001362270.1:p.Gln397=
NM_001375342.1:c.1165C= NP_001362271.1:p.Gln389=
NM_001375343.1:c.1288C= NP_001362272.1:p.Gln430=
NM_001375344.1:c.1231C= NP_001362273.1:p.Gln411=
NM_001375345.1:c.1102C= NP_001362274.1:p.Gln368=
NM_001375346.1:c.1126C= NP_001362275.1:p.Gln376=
NM_001375347.1:c.1105C= NP_001362276.1:p.Gln369=
NM_001375348.1:c.748C= NP_001362277.1:p.Gln250=
NM_001375349.1:c.883C= NP_001362278.1:p.Gln295=
NM_001375350.1:c.772C= NP_001362279.1:p.Gln258=
NM_198903.2:c.1312C= NP_944493.2:p.Gln438=
NM_198904.2:c.1192C= NP_944494.1:p.Gln398=
NM_198904.3:c.1192C= NP_944494.1:p.Gln398=
ENST00000356592.7:c.1192C= ENSP00000349000.3:p.Gln398=
ENST00000356592.8:c.1193C=
ENST00000361925.8:c.1168C= ENSP00000354651.4:p.Gln390=
ENST00000361925.9:c.1288C= ENSP00000354651.5:p.Gln430=
ENST00000414552.6:c.1312C= ENSP00000410732.2:p.Gln438=
ENST00000522990.5:c.*770C= ENSP00000430732.1:n.*770C=
ENST00000523372.1:c.1289C= ENSP00000430124.1:n.1289C=
ENST00000523372.2:c.1251C=
ENST00000638253.1:n.446C=
ENST00000638552.1:c.883C= ENSP00000491763.1:p.Gln295=
ENST00000638660.1:c.907C= ENSP00000492869.1:p.Gln303=
ENST00000638772.1:c.*3789C= ENSP00000491557.1:n.*3789C=
ENST00000638877.1:c.1069C=
ENST00000639046.1:c.559C= ENSP00000492659.1:p.Gln187=
ENST00000639111.2:c.1168C= ENSP00000492125.2:p.Gln390=
ENST00000639278.1:c.1855C= ENSP00000491958.1:n.1855C=
ENST00000639384.1:c.*1373C= ENSP00000491240.1:n.*1373C=
ENST00000639424.1:c.*392C= ENSP00000491245.1:n.*392C=
ENST00000639683.1:c.1126C= ENSP00000492581.1:p.Gln376=
ENST00000639975.1:c.1102C= ENSP00000492096.1:p.Gln368=
ENST00000640500.1:n.466C=
ENST00000640739.1:n.6139C=
ENST00000640910.1:c.630C=
ENST00000640985.1:c.1105C= ENSP00000492293.1:p.Gln369=
ENST00000641017.1:c.1261C= ENSP00000493461.1:p.Gln421=