Canonical Allele Identifier: CA362184072

Gene: GABRG2

Linked Data

• ClinVar Variation Id: 835151
• ClinVar RCV Id: RCV001035970
• dbSNP Id: rs1765508103
• MyVariant Identifiers: chr5:g.161580329C>G (hg19) ; chr5:g.162153323C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153323C>G , CM000667.2:g.162153323C>G	GRCh38
NC_000005.9:g.161580329C>G , CM000667.1:g.161580329C>G	GRCh37
NC_000005.8:g.161512907C>G	NCBI36
NG_009290.1:g.90682C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1384C>G
ENST00000361925.9:c.1479C>G	ENSP00000354651.5:p.Phe493Leu
ENST00000523372.2:c.1442C>G
ENST00000638253.1:n.637C>G
ENST00000638552.1:c.1074C>G	ENSP00000491763.1:p.Phe358Leu
ENST00000638660.1:c.1098C>G	ENSP00000492869.1:p.Phe366Leu
ENST00000638772.1:c.*3980C>G	ENSP00000491557.1:n.*3980C>G
ENST00000638877.1:c.1260C>G
ENST00000639046.1:c.750C>G	ENSP00000492659.1:p.Phe250Leu
ENST00000639111.2:c.1359C>G	ENSP00000492125.2:p.Phe453Leu
ENST00000639213.2:c.1383C>G MANE Select	ENSP00000491909.2:p.Phe461Leu
ENST00000639278.1:c.2046C>G	ENSP00000491958.1:n.2046C>G
ENST00000639384.1:c.*1564C>G	ENSP00000491240.1:n.*1564C>G
ENST00000639424.1:c.*583C>G	ENSP00000491245.1:n.*583C>G
ENST00000639683.1:c.1317C>G	ENSP00000492581.1:p.Phe439Leu
ENST00000639975.1:c.1293C>G	ENSP00000492096.1:p.Phe431Leu
ENST00000640500.1:n.657C>G
ENST00000640739.1:n.6330C>G
ENST00000640910.1:c.821C>G
ENST00000640985.1:c.1296C>G	ENSP00000492293.1:p.Phe432Leu
ENST00000641017.1:c.1452C>G	ENSP00000493461.1:p.Phe484Leu
ENST00000356592.7:c.1383C>G	ENSP00000349000.3:p.Phe461Leu
ENST00000361925.8:c.1359C>G	ENSP00000354651.4:p.Phe453Leu
ENST00000414552.6:c.1503C>G	ENSP00000410732.2:p.Phe501Leu
ENST00000522990.5:c.*961C>G	ENSP00000430732.1:n.*961C>G
ENST00000523372.1:c.1480C>G	ENSP00000430124.1:n.1480C>G
NM_000816.3:c.1359C>G	NP_000807.2:p.Phe453Leu
NM_198903.2:c.1503C>G	NP_944493.2:p.Phe501Leu
NM_198904.2:c.1383C>G	NP_944494.1:p.Phe461Leu
NM_001375339.1:c.1374C>G	NP_001362268.1:p.Phe458Leu
NM_001375340.1:c.*217C>G	NP_001362269.1:n.*217C>G
NM_001375341.1:c.1380C>G	NP_001362270.1:p.Phe460Leu
NM_001375342.1:c.1356C>G	NP_001362271.1:p.Phe452Leu
NM_001375343.1:c.1479C>G	NP_001362272.1:p.Phe493Leu
NM_001375344.1:c.1422C>G	NP_001362273.1:p.Phe474Leu
NM_001375345.1:c.1293C>G	NP_001362274.1:p.Phe431Leu
NM_001375346.1:c.1317C>G	NP_001362275.1:p.Phe439Leu
NM_001375347.1:c.1296C>G	NP_001362276.1:p.Phe432Leu
NM_001375348.1:c.939C>G	NP_001362277.1:p.Phe313Leu
NM_001375349.1:c.1074C>G	NP_001362278.1:p.Phe358Leu
NM_001375350.1:c.963C>G	NP_001362279.1:p.Phe321Leu
NM_198904.3:c.1383C>G	NP_944494.1:p.Phe461Leu
NM_198904.4:c.1383C>G MANE Select	NP_944494.1:p.Phe461Leu