Canonical Allele Identifier: CA362183912

Gene: GABRG2

Linked Data

• ClinVar Variation Id: 2950086
• ClinVar RCV Id: RCV003807444
• MyVariant Identifiers: chr5:g.161580294G>C (hg19) ; chr5:g.162153288G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153288G>C , CM000667.2:g.162153288G>C	GRCh38
NC_000005.9:g.161580294G>C , CM000667.1:g.161580294G>C	GRCh37
NC_000005.8:g.161512872G>C	NCBI36
NG_009290.1:g.90647G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1349G>C
ENST00000361925.9:c.1444G>C	ENSP00000354651.5:p.Asp482His
ENST00000523372.2:c.1407G>C
ENST00000638253.1:n.602G>C
ENST00000638552.1:c.1039G>C	ENSP00000491763.1:p.Asp347His
ENST00000638660.1:c.1063G>C	ENSP00000492869.1:p.Asp355His
ENST00000638772.1:c.*3945G>C	ENSP00000491557.1:n.*3945G>C
ENST00000638877.1:c.1225G>C
ENST00000639046.1:c.715G>C	ENSP00000492659.1:p.Asp239His
ENST00000639111.2:c.1324G>C	ENSP00000492125.2:p.Asp442His
ENST00000639213.2:c.1348G>C MANE Select	ENSP00000491909.2:p.Asp450His
ENST00000639278.1:c.2011G>C	ENSP00000491958.1:n.2011G>C
ENST00000639384.1:c.*1529G>C	ENSP00000491240.1:n.*1529G>C
ENST00000639424.1:c.*548G>C	ENSP00000491245.1:n.*548G>C
ENST00000639683.1:c.1282G>C	ENSP00000492581.1:p.Asp428His
ENST00000639975.1:c.1258G>C	ENSP00000492096.1:p.Asp420His
ENST00000640500.1:n.622G>C
ENST00000640739.1:n.6295G>C
ENST00000640910.1:c.786G>C
ENST00000640985.1:c.1261G>C	ENSP00000492293.1:p.Asp421His
ENST00000641017.1:c.1417G>C	ENSP00000493461.1:p.Asp473His
ENST00000356592.7:c.1348G>C	ENSP00000349000.3:p.Asp450His
ENST00000361925.8:c.1324G>C	ENSP00000354651.4:p.Asp442His
ENST00000414552.6:c.1468G>C	ENSP00000410732.2:p.Asp490His
ENST00000522990.5:c.*926G>C	ENSP00000430732.1:n.*926G>C
ENST00000523372.1:c.1445G>C	ENSP00000430124.1:n.1445G>C
NM_000816.3:c.1324G>C	NP_000807.2:p.Asp442His
NM_198903.2:c.1468G>C	NP_944493.2:p.Asp490His
NM_198904.2:c.1348G>C	NP_944494.1:p.Asp450His
NM_001375339.1:c.1339G>C	NP_001362268.1:p.Asp447His
NM_001375340.1:c.*182G>C	NP_001362269.1:n.*182G>C
NM_001375341.1:c.1345G>C	NP_001362270.1:p.Asp449His
NM_001375342.1:c.1321G>C	NP_001362271.1:p.Asp441His
NM_001375343.1:c.1444G>C	NP_001362272.1:p.Asp482His
NM_001375344.1:c.1387G>C	NP_001362273.1:p.Asp463His
NM_001375345.1:c.1258G>C	NP_001362274.1:p.Asp420His
NM_001375346.1:c.1282G>C	NP_001362275.1:p.Asp428His
NM_001375347.1:c.1261G>C	NP_001362276.1:p.Asp421His
NM_001375348.1:c.904G>C	NP_001362277.1:p.Asp302His
NM_001375349.1:c.1039G>C	NP_001362278.1:p.Asp347His
NM_001375350.1:c.928G>C	NP_001362279.1:p.Asp310His
NM_198904.3:c.1348G>C	NP_944494.1:p.Asp450His
NM_198904.4:c.1348G>C MANE Select	NP_944494.1:p.Asp450His