Canonical Allele Identifier: CA362183789

Gene: GABRG2

Linked Data

• ClinVar Variation Id: 3097852
• ClinVar RCV Id: RCV004390165
• dbSNP Id: rs772194057
• gnomAD v3: 5-162153256-A-G
• gnomAD v4: 5-162153256-A-G
• MyVariant Identifiers: chr5:g.161580262A>G (hg19) ; chr5:g.162153256A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153256A>G , CM000667.2:g.162153256A>G	GRCh38
NC_000005.9:g.161580262A>G , CM000667.1:g.161580262A>G	GRCh37
NC_000005.8:g.161512840A>G	NCBI36
NG_009290.1:g.90615A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1317A>G
ENST00000361925.9:c.1412A>G	ENSP00000354651.5:p.His471Arg
ENST00000523372.2:c.1375A>G
ENST00000638253.1:n.570A>G
ENST00000638552.1:c.1007A>G	ENSP00000491763.1:p.His336Arg
ENST00000638660.1:c.1031A>G	ENSP00000492869.1:p.His344Arg
ENST00000638772.1:c.*3913A>G	ENSP00000491557.1:n.*3913A>G
ENST00000638877.1:c.1193A>G
ENST00000639046.1:c.683A>G	ENSP00000492659.1:p.His228Arg
ENST00000639111.2:c.1292A>G	ENSP00000492125.2:p.His431Arg
ENST00000639213.2:c.1316A>G MANE Select	ENSP00000491909.2:p.His439Arg
ENST00000639278.1:c.1979A>G	ENSP00000491958.1:n.1979A>G
ENST00000639384.1:c.*1497A>G	ENSP00000491240.1:n.*1497A>G
ENST00000639424.1:c.*516A>G	ENSP00000491245.1:n.*516A>G
ENST00000639683.1:c.1250A>G	ENSP00000492581.1:p.His417Arg
ENST00000639975.1:c.1226A>G	ENSP00000492096.1:p.His409Arg
ENST00000640500.1:n.590A>G
ENST00000640739.1:n.6263A>G
ENST00000640910.1:c.754A>G
ENST00000640985.1:c.1229A>G	ENSP00000492293.1:p.His410Arg
ENST00000641017.1:c.1385A>G	ENSP00000493461.1:p.His462Arg
ENST00000356592.7:c.1316A>G	ENSP00000349000.3:p.His439Arg
ENST00000361925.8:c.1292A>G	ENSP00000354651.4:p.His431Arg
ENST00000414552.6:c.1436A>G	ENSP00000410732.2:p.His479Arg
ENST00000522990.5:c.*894A>G	ENSP00000430732.1:n.*894A>G
ENST00000523372.1:c.1413A>G	ENSP00000430124.1:n.1413A>G
NM_000816.3:c.1292A>G	NP_000807.2:p.His431Arg
NM_198903.2:c.1436A>G	NP_944493.2:p.His479Arg
NM_198904.2:c.1316A>G	NP_944494.1:p.His439Arg
NM_001375339.1:c.1307A>G	NP_001362268.1:p.His436Arg
NM_001375340.1:c.*150A>G	NP_001362269.1:n.*150A>G
NM_001375341.1:c.1313A>G	NP_001362270.1:p.His438Arg
NM_001375342.1:c.1289A>G	NP_001362271.1:p.His430Arg
NM_001375343.1:c.1412A>G	NP_001362272.1:p.His471Arg
NM_001375344.1:c.1355A>G	NP_001362273.1:p.His452Arg
NM_001375345.1:c.1226A>G	NP_001362274.1:p.His409Arg
NM_001375346.1:c.1250A>G	NP_001362275.1:p.His417Arg
NM_001375347.1:c.1229A>G	NP_001362276.1:p.His410Arg
NM_001375348.1:c.872A>G	NP_001362277.1:p.His291Arg
NM_001375349.1:c.1007A>G	NP_001362278.1:p.His336Arg
NM_001375350.1:c.896A>G	NP_001362279.1:p.His299Arg
NM_198904.3:c.1316A>G	NP_944494.1:p.His439Arg
NM_198904.4:c.1316A>G MANE Select	NP_944494.1:p.His439Arg