Canonical Allele Identifier: CA362184098

Gene: GABRG2

Linked Data

• MyVariant Identifiers: chr5:g.161580334T>G (hg19) ; chr5:g.162153328T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153328T>G , CM000667.2:g.162153328T>G	GRCh38
NC_000005.9:g.161580334T>G , CM000667.1:g.161580334T>G	GRCh37
NC_000005.8:g.161512912T>G	NCBI36
NG_009290.1:g.90687T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1389T>G
ENST00000361925.9:c.1484T>G	ENSP00000354651.5:p.Leu495Arg
ENST00000523372.2:c.1447T>G
ENST00000638253.1:n.642T>G
ENST00000638552.1:c.1079T>G	ENSP00000491763.1:p.Leu360Arg
ENST00000638660.1:c.1103T>G	ENSP00000492869.1:p.Leu368Arg
ENST00000638772.1:c.*3985T>G	ENSP00000491557.1:n.*3985T>G
ENST00000638877.1:c.1265T>G
ENST00000639046.1:c.755T>G	ENSP00000492659.1:p.Leu252Arg
ENST00000639111.2:c.1364T>G	ENSP00000492125.2:p.Leu455Arg
ENST00000639213.2:c.1388T>G MANE Select	ENSP00000491909.2:p.Leu463Arg
ENST00000639278.1:c.2051T>G	ENSP00000491958.1:n.2051T>G
ENST00000639384.1:c.*1569T>G	ENSP00000491240.1:n.*1569T>G
ENST00000639424.1:c.*588T>G	ENSP00000491245.1:n.*588T>G
ENST00000639683.1:c.1322T>G	ENSP00000492581.1:p.Leu441Arg
ENST00000639975.1:c.1298T>G	ENSP00000492096.1:p.Leu433Arg
ENST00000640500.1:n.662T>G
ENST00000640739.1:n.6335T>G
ENST00000640910.1:c.826T>G
ENST00000640985.1:c.1301T>G	ENSP00000492293.1:p.Leu434Arg
ENST00000641017.1:c.1457T>G	ENSP00000493461.1:p.Leu486Arg
ENST00000356592.7:c.1388T>G	ENSP00000349000.3:p.Leu463Arg
ENST00000361925.8:c.1364T>G	ENSP00000354651.4:p.Leu455Arg
ENST00000414552.6:c.1508T>G	ENSP00000410732.2:p.Leu503Arg
ENST00000522990.5:c.*966T>G	ENSP00000430732.1:n.*966T>G
ENST00000523372.1:c.1485T>G	ENSP00000430124.1:n.1485T>G
NM_000816.3:c.1364T>G	NP_000807.2:p.Leu455Arg
NM_198903.2:c.1508T>G	NP_944493.2:p.Leu503Arg
NM_198904.2:c.1388T>G	NP_944494.1:p.Leu463Arg
NM_001375339.1:c.1379T>G	NP_001362268.1:p.Leu460Arg
NM_001375340.1:c.*222T>G	NP_001362269.1:n.*222T>G
NM_001375341.1:c.1385T>G	NP_001362270.1:p.Leu462Arg
NM_001375342.1:c.1361T>G	NP_001362271.1:p.Leu454Arg
NM_001375343.1:c.1484T>G	NP_001362272.1:p.Leu495Arg
NM_001375344.1:c.1427T>G	NP_001362273.1:p.Leu476Arg
NM_001375345.1:c.1298T>G	NP_001362274.1:p.Leu433Arg
NM_001375346.1:c.1322T>G	NP_001362275.1:p.Leu441Arg
NM_001375347.1:c.1301T>G	NP_001362276.1:p.Leu434Arg
NM_001375348.1:c.944T>G	NP_001362277.1:p.Leu315Arg
NM_001375349.1:c.1079T>G	NP_001362278.1:p.Leu360Arg
NM_001375350.1:c.968T>G	NP_001362279.1:p.Leu323Arg
NM_198904.3:c.1388T>G	NP_944494.1:p.Leu463Arg
NM_198904.4:c.1388T>G MANE Select	NP_944494.1:p.Leu463Arg