Canonical Allele Identifier: CA362183763

Gene: GABRG2

Linked Data

• ClinVar Variation Id: 2578988
• ClinVar RCV Id: RCV003327162
• MyVariant Identifiers: chr5:g.161580256G>A (hg19) ; chr5:g.162153250G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153250G>A , CM000667.2:g.162153250G>A	GRCh38
NC_000005.9:g.161580256G>A , CM000667.1:g.161580256G>A	GRCh37
NC_000005.8:g.161512834G>A	NCBI36
NG_009290.1:g.90609G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1311G>A
ENST00000361925.9:c.1406G>A	ENSP00000354651.5:p.Trp469Ter
ENST00000523372.2:c.1369G>A
ENST00000638253.1:n.564G>A
ENST00000638552.1:c.1001G>A	ENSP00000491763.1:p.Trp334Ter
ENST00000638660.1:c.1025G>A	ENSP00000492869.1:p.Trp342Ter
ENST00000638772.1:c.*3907G>A	ENSP00000491557.1:n.*3907G>A
ENST00000638877.1:c.1187G>A
ENST00000639046.1:c.677G>A	ENSP00000492659.1:p.Trp226Ter
ENST00000639111.2:c.1286G>A	ENSP00000492125.2:p.Trp429Ter
ENST00000639213.2:c.1310G>A MANE Select	ENSP00000491909.2:p.Trp437Ter
ENST00000639278.1:c.1973G>A	ENSP00000491958.1:n.1973G>A
ENST00000639384.1:c.*1491G>A	ENSP00000491240.1:n.*1491G>A
ENST00000639424.1:c.*510G>A	ENSP00000491245.1:n.*510G>A
ENST00000639683.1:c.1244G>A	ENSP00000492581.1:p.Trp415Ter
ENST00000639975.1:c.1220G>A	ENSP00000492096.1:p.Trp407Ter
ENST00000640500.1:n.584G>A
ENST00000640739.1:n.6257G>A
ENST00000640910.1:c.748G>A
ENST00000640985.1:c.1223G>A	ENSP00000492293.1:p.Trp408Ter
ENST00000641017.1:c.1379G>A	ENSP00000493461.1:p.Trp460Ter
ENST00000356592.7:c.1310G>A	ENSP00000349000.3:p.Trp437Ter
ENST00000361925.8:c.1286G>A	ENSP00000354651.4:p.Trp429Ter
ENST00000414552.6:c.1430G>A	ENSP00000410732.2:p.Trp477Ter
ENST00000522990.5:c.*888G>A	ENSP00000430732.1:n.*888G>A
ENST00000523372.1:c.1407G>A	ENSP00000430124.1:n.1407G>A
NM_000816.3:c.1286G>A	NP_000807.2:p.Trp429Ter
NM_198903.2:c.1430G>A	NP_944493.2:p.Trp477Ter
NM_198904.2:c.1310G>A	NP_944494.1:p.Trp437Ter
NM_001375339.1:c.1301G>A	NP_001362268.1:p.Trp434Ter
NM_001375340.1:c.*144G>A	NP_001362269.1:n.*144G>A
NM_001375341.1:c.1307G>A	NP_001362270.1:p.Trp436Ter
NM_001375342.1:c.1283G>A	NP_001362271.1:p.Trp428Ter
NM_001375343.1:c.1406G>A	NP_001362272.1:p.Trp469Ter
NM_001375344.1:c.1349G>A	NP_001362273.1:p.Trp450Ter
NM_001375345.1:c.1220G>A	NP_001362274.1:p.Trp407Ter
NM_001375346.1:c.1244G>A	NP_001362275.1:p.Trp415Ter
NM_001375347.1:c.1223G>A	NP_001362276.1:p.Trp408Ter
NM_001375348.1:c.866G>A	NP_001362277.1:p.Trp289Ter
NM_001375349.1:c.1001G>A	NP_001362278.1:p.Trp334Ter
NM_001375350.1:c.890G>A	NP_001362279.1:p.Trp297Ter
NM_198904.3:c.1310G>A	NP_944494.1:p.Trp437Ter
NM_198904.4:c.1310G>A MANE Select	NP_944494.1:p.Trp437Ter