Canonical Allele Identifier: CA362185119
Gene: GABRG2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.162103960T>C , CM000667.2:g.162103960T>C GRCh38
NC_000005.9:g.161530966T>C , CM000667.1:g.161530966T>C GRCh37
NC_000005.8:g.161463544T>C NCBI36
NG_009290.1:g.41319T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000356592.8:c.665T>C
ENST00000361925.9:c.823T>C ENSP00000354651.5:p.Trp275Arg
ENST00000522053.2:n.594T>C
ENST00000523372.2:c.786T>C
ENST00000638552.1:c.418T>C ENSP00000491763.1:p.Trp140Arg
ENST00000638660.1:c.418T>C ENSP00000492869.1:p.Trp140Arg
ENST00000638772.1:c.703T>C ENSP00000491557.1:p.Trp235Arg
ENST00000638782.1:n.765T>C
ENST00000638877.1:c.580T>C
ENST00000639046.1:c.94T>C ENSP00000492659.1:p.Trp32Arg
ENST00000639111.2:c.703T>C ENSP00000492125.2:p.Trp235Arg
ENST00000639213.2:c.703T>C MANE Select ENSP00000491909.2:p.Trp235Arg
ENST00000639278.1:c.631T>C ENSP00000491958.1:p.Trp211Arg
ENST00000639384.1:c.703T>C ENSP00000491240.1:p.Trp235Arg
ENST00000639424.1:c.107+35854T>C ENSP00000491245.1:n.107+35854T>C
ENST00000639683.1:c.637T>C ENSP00000492581.1:p.Trp213Arg
ENST00000639975.1:c.637T>C ENSP00000492096.1:p.Trp213Arg
ENST00000640574.1:c.418T>C ENSP00000491582.1:p.Trp140Arg
ENST00000640739.1:n.3234T>C
ENST00000640910.1:c.141T>C
ENST00000640985.1:c.616T>C ENSP00000492293.1:p.Trp206Arg
ENST00000641017.1:c.703T>C ENSP00000493461.1:p.Trp235Arg
ENST00000356592.7:c.703T>C ENSP00000349000.3:p.Trp235Arg
ENST00000361925.8:c.703T>C ENSP00000354651.4:p.Trp235Arg
ENST00000414552.6:c.823T>C ENSP00000410732.2:p.Trp275Arg
ENST00000522053.1:c.418T>C ENSP00000430182.1:p.Trp140Arg
ENST00000522990.5:c.*305T>C ENSP00000430732.1:n.*305T>C
ENST00000523372.1:c.824T>C ENSP00000430124.1:n.824T>C
NM_000816.3:c.703T>C NP_000807.2:p.Trp235Arg
NM_198903.2:c.823T>C NP_944493.2:p.Trp275Arg
NM_198904.2:c.703T>C NP_944494.1:p.Trp235Arg
NM_001375339.1:c.694T>C NP_001362268.1:p.Trp232Arg
NM_001375340.1:c.703T>C NP_001362269.1:p.Trp235Arg
NM_001375341.1:c.703T>C NP_001362270.1:p.Trp235Arg
NM_001375342.1:c.703T>C NP_001362271.1:p.Trp235Arg
NM_001375343.1:c.823T>C NP_001362272.1:p.Trp275Arg
NM_001375344.1:c.703T>C NP_001362273.1:p.Trp235Arg
NM_001375345.1:c.637T>C NP_001362274.1:p.Trp213Arg
NM_001375346.1:c.637T>C NP_001362275.1:p.Trp213Arg
NM_001375347.1:c.616T>C NP_001362276.1:p.Trp206Arg
NM_001375348.1:c.283T>C NP_001362277.1:p.Trp95Arg
NM_001375349.1:c.418T>C NP_001362278.1:p.Trp140Arg
NM_001375350.1:c.283T>C NP_001362279.1:p.Trp95Arg
NM_198904.3:c.703T>C NP_944494.1:p.Trp235Arg
NM_198904.4:c.703T>C MANE Select NP_944494.1:p.Trp235Arg