Canonical Allele Identifier: CA1596362472
Community Standard Title: NM_198904.4(GABRG2):c.540C= (p.Tyr180=)
Gene: GABRG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.162097850C= , CM000667.2:g.162097850C= GRCh38
NC_000005.9:g.161524856C= , CM000667.1:g.161524856C= GRCh37
NC_000005.8:g.161457434C= NCBI36
NG_009290.1:g.35209C=

Transcript Alleles

HGVS Amino-acid Change
NM_198904.4:c.540C= MANE Select NP_944494.1:p.Tyr180=
ENST00000639213.2:c.540C= MANE Select ENSP00000491909.2:p.Tyr180=
NM_000816.3:c.540C= NP_000807.2:p.Tyr180=
NM_001375339.1:c.531C= NP_001362268.1:p.Tyr177=
NM_001375340.1:c.540C= NP_001362269.1:p.Tyr180=
NM_001375341.1:c.540C= NP_001362270.1:p.Tyr180=
NM_001375342.1:c.540C= NP_001362271.1:p.Tyr180=
NM_001375343.1:c.540C= NP_001362272.1:p.Tyr180=
NM_001375344.1:c.540C= NP_001362273.1:p.Tyr180=
NM_001375345.1:c.474C= NP_001362274.1:p.Tyr158=
NM_001375346.1:c.474C= NP_001362275.1:p.Tyr158=
NM_001375347.1:c.453C= NP_001362276.1:p.Tyr151=
NM_001375348.1:c.120C= NP_001362277.1:p.Tyr40=
NM_001375349.1:c.255C= NP_001362278.1:p.Tyr85=
NM_001375350.1:c.120C= NP_001362279.1:p.Tyr40=
NM_198903.2:c.540C= NP_944493.2:p.Tyr180=
NM_198904.2:c.540C= NP_944494.1:p.Tyr180=
NM_198904.3:c.540C= NP_944494.1:p.Tyr180=
ENST00000356592.7:c.540C= ENSP00000349000.3:p.Tyr180=
ENST00000356592.8:c.502C=
ENST00000361925.8:c.540C= ENSP00000354651.4:p.Tyr180=
ENST00000361925.9:c.540C= ENSP00000354651.5:p.Tyr180=
ENST00000414552.6:c.540C= ENSP00000410732.2:p.Tyr180=
ENST00000522053.1:c.255C= ENSP00000430182.1:p.Tyr85=
ENST00000522053.2:n.431C=
ENST00000522990.5:c.*142C= ENSP00000430732.1:n.*142C=
ENST00000523372.1:c.661C= ENSP00000430124.1:n.661C=
ENST00000523372.2:c.623C=
ENST00000638552.1:c.255C= ENSP00000491763.1:p.Tyr85=
ENST00000638660.1:c.255C= ENSP00000492869.1:p.Tyr85=
ENST00000638772.1:c.540C= ENSP00000491557.1:p.Tyr180=
ENST00000638782.1:n.602C=
ENST00000638877.1:c.417C=
ENST00000639046.1:c.23-6039C= ENSP00000492659.1:n.23-6039C=
ENST00000639111.2:c.540C= ENSP00000492125.2:p.Tyr180=
ENST00000639278.1:c.468C= ENSP00000491958.1:p.Tyr156=
ENST00000639384.1:c.540C= ENSP00000491240.1:p.Tyr180=
ENST00000639424.1:c.107+29744C= ENSP00000491245.1:n.107+29744C=
ENST00000639554.1:n.500C=
ENST00000639683.1:c.474C= ENSP00000492581.1:p.Tyr158=
ENST00000639975.1:c.474C= ENSP00000492096.1:p.Tyr158=
ENST00000640574.1:c.255C= ENSP00000491582.1:p.Tyr85=
ENST00000640739.1:n.500C=
ENST00000640910.1:c.70-6039C=
ENST00000640985.1:c.453C= ENSP00000492293.1:p.Tyr151=
ENST00000641017.1:c.540C= ENSP00000493461.1:p.Tyr180=