Canonical Allele Identifier: CA362182720
Gene: GABRG2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.162149302A>C , CM000667.2:g.162149302A>C GRCh38
NC_000005.9:g.161576308A>C , CM000667.1:g.161576308A>C GRCh37
NC_000005.8:g.161508886A>C NCBI36
NG_009290.1:g.86661A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000356592.8:c.1118A>C
ENST00000361925.9:c.1237A>C ENSP00000354651.5:p.Lys413Gln
ENST00000523372.2:c.1200A>C
ENST00000638253.1:n.371A>C
ENST00000638552.1:c.832A>C ENSP00000491763.1:p.Lys278Gln
ENST00000638660.1:c.832A>C ENSP00000492869.1:p.Lys278Gln
ENST00000638772.1:c.1117A>C ENSP00000491557.1:p.Lys373Gln
ENST00000638877.1:c.994A>C
ENST00000639046.1:c.508A>C ENSP00000492659.1:p.Lys170Gln
ENST00000639111.2:c.1117A>C ENSP00000492125.2:p.Lys373Gln
ENST00000639213.2:c.1117A>C MANE Select ENSP00000491909.2:p.Lys373Gln
ENST00000639278.1:c.1045A>C ENSP00000491958.1:p.Lys349Gln
ENST00000639384.1:c.1117A>C ENSP00000491240.1:p.Lys373Gln
ENST00000639424.1:c.*317A>C ENSP00000491245.1:n.*317A>C
ENST00000639683.1:c.1051A>C ENSP00000492581.1:p.Lys351Gln
ENST00000639975.1:c.1051A>C ENSP00000492096.1:p.Lys351Gln
ENST00000640500.1:n.415A>C
ENST00000640574.1:c.832A>C ENSP00000491582.1:p.Lys278Gln
ENST00000640739.1:n.3648A>C
ENST00000640910.1:c.555A>C
ENST00000640985.1:c.1030A>C ENSP00000492293.1:p.Lys344Gln
ENST00000641017.1:c.1117A>C ENSP00000493461.1:p.Lys373Gln
ENST00000356592.7:c.1117A>C ENSP00000349000.3:p.Lys373Gln
ENST00000361925.8:c.1117A>C ENSP00000354651.4:p.Lys373Gln
ENST00000414552.6:c.1237A>C ENSP00000410732.2:p.Lys413Gln
ENST00000522990.5:c.*719A>C ENSP00000430732.1:n.*719A>C
ENST00000523372.1:c.1238A>C ENSP00000430124.1:n.1238A>C
NM_000816.3:c.1117A>C NP_000807.2:p.Lys373Gln
NM_198903.2:c.1237A>C NP_944493.2:p.Lys413Gln
NM_198904.2:c.1117A>C NP_944494.1:p.Lys373Gln
NM_001375339.1:c.1108A>C NP_001362268.1:p.Lys370Gln
NM_001375340.1:c.923-2428A>C NP_001362269.1:n.923-2428A>C
NM_001375341.1:c.1114A>C NP_001362270.1:p.Lys372Gln
NM_001375342.1:c.1114A>C NP_001362271.1:p.Lys372Gln
NM_001375343.1:c.1237A>C NP_001362272.1:p.Lys413Gln
NM_001375344.1:c.1156A>C NP_001362273.1:p.Lys386Gln
NM_001375345.1:c.1051A>C NP_001362274.1:p.Lys351Gln
NM_001375346.1:c.1051A>C NP_001362275.1:p.Lys351Gln
NM_001375347.1:c.1030A>C NP_001362276.1:p.Lys344Gln
NM_001375348.1:c.697A>C NP_001362277.1:p.Lys233Gln
NM_001375349.1:c.832A>C NP_001362278.1:p.Lys278Gln
NM_001375350.1:c.697A>C NP_001362279.1:p.Lys233Gln
NM_198904.3:c.1117A>C NP_944494.1:p.Lys373Gln
NM_198904.4:c.1117A>C MANE Select NP_944494.1:p.Lys373Gln