Canonical Allele Identifier: CA16605318
Community Standard Title: NM_198904.4(GABRG2):c.269C>T (p.Thr90Met)
Gene: GABRG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.162095504C>T , CM000667.2:g.162095504C>T GRCh38
NC_000005.9:g.161522510C>T , CM000667.1:g.161522510C>T GRCh37
NC_000005.8:g.161455088C>T NCBI36
NG_009290.1:g.32863C>T

Transcript Alleles

HGVS Amino-acid Change
NM_198904.4:c.269C>T MANE Select NP_944494.1:p.Thr90Met
ENST00000639213.2:c.269C>T MANE Select ENSP00000491909.2:p.Thr90Met
NM_000816.3:c.269C>T NP_000807.2:p.Thr90Met
NM_001375339.1:c.260C>T NP_001362268.1:p.Thr87Met
NM_001375340.1:c.269C>T NP_001362269.1:p.Thr90Met
NM_001375341.1:c.269C>T NP_001362270.1:p.Thr90Met
NM_001375342.1:c.269C>T NP_001362271.1:p.Thr90Met
NM_001375343.1:c.269C>T NP_001362272.1:p.Thr90Met
NM_001375344.1:c.269C>T NP_001362273.1:p.Thr90Met
NM_001375345.1:c.203C>T NP_001362274.1:p.Thr68Met
NM_001375346.1:c.203C>T NP_001362275.1:p.Thr68Met
NM_001375347.1:c.182C>T NP_001362276.1:p.Thr61Met
NM_001375348.1:c.-90C>T NP_001362277.1:n.-90C>T
NM_001375349.1:c.-17C>T NP_001362278.1:n.-17C>T
NM_001375350.1:c.-90C>T NP_001362279.1:n.-90C>T
NM_198903.2:c.269C>T NP_944493.2:p.Thr90Met
NM_198904.2:c.269C>T NP_944494.1:p.Thr90Met
NM_198904.3:c.269C>T NP_944494.1:p.Thr90Met
ENST00000356592.7:c.269C>T ENSP00000349000.3:p.Thr90Met
ENST00000356592.8:c.231C>T
ENST00000361925.8:c.269C>T ENSP00000354651.4:p.Thr90Met
ENST00000361925.9:c.269C>T ENSP00000354651.5:p.Thr90Met
ENST00000414552.6:c.269C>T ENSP00000410732.2:p.Thr90Met
ENST00000522053.1:c.-17C>T ENSP00000430182.1:n.-17C>T
ENST00000522053.2:n.160C>T
ENST00000522990.5:c.269C>T ENSP00000430732.1:p.Thr90Met
ENST00000523372.1:c.390C>T ENSP00000430124.1:n.390C>T
ENST00000523372.2:c.352C>T
ENST00000638552.1:c.-17C>T ENSP00000491763.1:n.-17C>T
ENST00000638660.1:c.-17C>T ENSP00000492869.1:n.-17C>T
ENST00000638772.1:c.269C>T ENSP00000491557.1:p.Thr90Met
ENST00000638782.1:n.331C>T
ENST00000638877.1:c.208C>T
ENST00000639046.1:c.23-8385C>T ENSP00000492659.1:n.23-8385C>T
ENST00000639111.2:c.269C>T ENSP00000492125.2:p.Thr90Met
ENST00000639278.1:c.197C>T ENSP00000491958.1:p.Thr66Met
ENST00000639384.1:c.269C>T ENSP00000491240.1:p.Thr90Met
ENST00000639424.1:c.107+27398C>T ENSP00000491245.1:n.107+27398C>T
ENST00000639554.1:n.229C>T
ENST00000639683.1:c.203C>T ENSP00000492581.1:p.Thr68Met
ENST00000639975.1:c.203C>T ENSP00000492096.1:p.Thr68Met
ENST00000640574.1:c.-17C>T ENSP00000491582.1:n.-17C>T
ENST00000640739.1:n.229C>T
ENST00000640757.1:c.275C>T ENSP00000492329.1:p.Thr92Met
ENST00000640910.1:c.70-8385C>T
ENST00000640985.1:c.182C>T ENSP00000492293.1:p.Thr61Met
ENST00000641017.1:c.269C>T ENSP00000493461.1:p.Thr90Met