Canonical Allele Identifier: CA3545015

Gene: GABRG2

Linked Data

• dbSNP Id: rs762872104
• ExAC: 5:161580423 A / AGAGATGTCTGT
• gnomAD v2: 5-161580423-A-AGAGATGTCTGT
• gnomAD v4: 5-162153417-A-AGAGATGTCTGT
• MyVariant Identifiers: chr5:g.161580423_161580424insGAGATGTCTGT (hg19) ; chr5:g.162153417_162153418insGAGATGTCTGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153418_162153428dup , CM000667.2:g.162153418_162153428dup	GRCh38
NC_000005.9:g.161580424_161580434dup , CM000667.1:g.161580424_161580434dup	GRCh37
NC_000005.8:g.161513002_161513012dup	NCBI36
NG_009290.1:g.90777_90787dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1479_1489dup
ENST00000361925.9:c.*50_*60dup	ENSP00000354651.5:n.*50_*60dup
ENST00000523372.2:c.1537_1547dup
ENST00000638253.1:n.732_742dup
ENST00000638552.1:c.*50_*60dup	ENSP00000491763.1:n.*50_*60dup
ENST00000638660.1:c.*50_*60dup	ENSP00000492869.1:n.*50_*60dup
ENST00000638772.1:c.*4075_*4085dup	ENSP00000491557.1:n.*4075_*4085dup
ENST00000638877.1:c.1355_1365dup
ENST00000639046.1:c.*50_*60dup	ENSP00000492659.1:n.*50_*60dup
ENST00000639111.2:c.*50_*60dup	ENSP00000492125.2:n.*50_*60dup
ENST00000639213.2:c.*50_*60dup MANE Select	ENSP00000491909.2:n.*50_*60dup
ENST00000639278.1:c.2141_2151dup	ENSP00000491958.1:n.2141_2151dup
ENST00000639384.1:c.*1659_*1669dup	ENSP00000491240.1:n.*1659_*1669dup
ENST00000639424.1:c.*678_*688dup	ENSP00000491245.1:n.*678_*688dup
ENST00000639683.1:c.*50_*60dup	ENSP00000492581.1:n.*50_*60dup
ENST00000639975.1:c.*50_*60dup	ENSP00000492096.1:n.*50_*60dup
ENST00000640500.1:n.752_762dup
ENST00000640739.1:n.6425_6435dup
ENST00000640985.1:c.*50_*60dup	ENSP00000492293.1:n.*50_*60dup
ENST00000641017.1:c.1547_1557dup	ENSP00000493461.1:n.1547_1557dup
ENST00000356592.7:c.*50_*60dup	ENSP00000349000.3:n.*50_*60dup
ENST00000361925.8:c.*50_*60dup	ENSP00000354651.4:n.*50_*60dup
ENST00000414552.6:c.*50_*60dup	ENSP00000410732.2:n.*50_*60dup
ENST00000522990.5:c.*1056_*1066dup	ENSP00000430732.1:n.*1056_*1066dup
ENST00000523372.1:c.1575_1585dup	ENSP00000430124.1:n.1575_1585dup
NM_000816.3:c.*50_*60dup	NP_000807.2:n.*50_*60dup
NM_198903.2:c.*50_*60dup	NP_944493.2:n.*50_*60dup
NM_198904.2:c.*50_*60dup	NP_944494.1:n.*50_*60dup
NM_001375339.1:c.*50_*60dup	NP_001362268.1:n.*50_*60dup
NM_001375340.1:c.*312_*322dup	NP_001362269.1:n.*312_*322dup
NM_001375341.1:c.*50_*60dup	NP_001362270.1:n.*50_*60dup
NM_001375342.1:c.*50_*60dup	NP_001362271.1:n.*50_*60dup
NM_001375343.1:c.*50_*60dup	NP_001362272.1:n.*50_*60dup
NM_001375344.1:c.*50_*60dup	NP_001362273.1:n.*50_*60dup
NM_001375345.1:c.*50_*60dup	NP_001362274.1:n.*50_*60dup
NM_001375346.1:c.*50_*60dup	NP_001362275.1:n.*50_*60dup
NM_001375347.1:c.*50_*60dup	NP_001362276.1:n.*50_*60dup
NM_001375348.1:c.*50_*60dup	NP_001362277.1:n.*50_*60dup
NM_001375349.1:c.*50_*60dup	NP_001362278.1:n.*50_*60dup
NM_001375350.1:c.*50_*60dup	NP_001362279.1:n.*50_*60dup
NM_198904.3:c.*50_*60dup	NP_944494.1:n.*50_*60dup
NM_198904.4:c.*50_*60dup MANE Select	NP_944494.1:n.*50_*60dup