Canonical Allele Identifier: CA1596360807
Community Standard Title: NM_198904.4(GABRG2):c.220C= (p.Leu74=)
Gene: GABRG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.162093940C= , CM000667.2:g.162093940C= GRCh38
NC_000005.9:g.161520946C= , CM000667.1:g.161520946C= GRCh37
NC_000005.8:g.161453524C= NCBI36
NG_009290.1:g.31299C=

Transcript Alleles

HGVS Amino-acid Change
NM_198904.4:c.220C= MANE Select NP_944494.1:p.Leu74=
ENST00000639213.2:c.220C= MANE Select ENSP00000491909.2:p.Leu74=
NM_000816.3:c.220C= NP_000807.2:p.Leu74=
NM_001375339.1:c.211C= NP_001362268.1:p.Leu71=
NM_001375340.1:c.220C= NP_001362269.1:p.Leu74=
NM_001375341.1:c.220C= NP_001362270.1:p.Leu74=
NM_001375342.1:c.220C= NP_001362271.1:p.Leu74=
NM_001375343.1:c.220C= NP_001362272.1:p.Leu74=
NM_001375344.1:c.220C= NP_001362273.1:p.Leu74=
NM_001375345.1:c.154C= NP_001362274.1:p.Leu52=
NM_001375346.1:c.154C= NP_001362275.1:p.Leu52=
NM_001375347.1:c.133C= NP_001362276.1:p.Leu45=
NM_001375348.1:c.-139C= NP_001362277.1:n.-139C=
NM_001375349.1:c.-66C= NP_001362278.1:n.-66C=
NM_001375350.1:c.-139C= NP_001362279.1:n.-139C=
NM_198903.2:c.220C= NP_944493.2:p.Leu74=
NM_198904.2:c.220C= NP_944494.1:p.Leu74=
NM_198904.3:c.220C= NP_944494.1:p.Leu74=
ENST00000356592.7:c.220C= ENSP00000349000.3:p.Leu74=
ENST00000356592.8:c.182C=
ENST00000361925.8:c.220C= ENSP00000354651.4:p.Leu74=
ENST00000361925.9:c.220C= ENSP00000354651.5:p.Leu74=
ENST00000414552.6:c.220C= ENSP00000410732.2:p.Leu74=
ENST00000522990.5:c.220C= ENSP00000430732.1:p.Leu74=
ENST00000523372.1:c.341C= ENSP00000430124.1:n.341C=
ENST00000523372.2:c.303C=
ENST00000638552.1:c.-66C= ENSP00000491763.1:n.-66C=
ENST00000638660.1:c.-66C= ENSP00000492869.1:n.-66C=
ENST00000638772.1:c.220C= ENSP00000491557.1:p.Leu74=
ENST00000638782.1:n.282C=
ENST00000638877.1:c.159C=
ENST00000639046.1:c.23-9949C= ENSP00000492659.1:n.23-9949C=
ENST00000639111.2:c.220C= ENSP00000492125.2:p.Leu74=
ENST00000639278.1:c.148C= ENSP00000491958.1:p.Leu50=
ENST00000639384.1:c.220C= ENSP00000491240.1:p.Leu74=
ENST00000639424.1:c.107+25834C= ENSP00000491245.1:n.107+25834C=
ENST00000639549.1:n.444C=
ENST00000639554.1:n.180C=
ENST00000639683.1:c.154C= ENSP00000492581.1:p.Leu52=
ENST00000639975.1:c.154C= ENSP00000492096.1:p.Leu52=
ENST00000640574.1:c.-66C= ENSP00000491582.1:n.-66C=
ENST00000640739.1:n.180C=
ENST00000640757.1:c.226C= ENSP00000492329.1:p.Leu76=
ENST00000640910.1:c.70-9949C=
ENST00000640985.1:c.133C= ENSP00000492293.1:p.Leu45=
ENST00000641017.1:c.220C= ENSP00000493461.1:p.Leu74=