Canonical Allele Identifier: CA362184090

Gene: GABRG2

Linked Data

• MyVariant Identifiers: chr5:g.161580333C>G (hg19) ; chr5:g.162153327C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153327C>G , CM000667.2:g.162153327C>G	GRCh38
NC_000005.9:g.161580333C>G , CM000667.1:g.161580333C>G	GRCh37
NC_000005.8:g.161512911C>G	NCBI36
NG_009290.1:g.90686C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1388C>G
ENST00000361925.9:c.1483C>G	ENSP00000354651.5:p.Leu495Val
ENST00000523372.2:c.1446C>G
ENST00000638253.1:n.641C>G
ENST00000638552.1:c.1078C>G	ENSP00000491763.1:p.Leu360Val
ENST00000638660.1:c.1102C>G	ENSP00000492869.1:p.Leu368Val
ENST00000638772.1:c.*3984C>G	ENSP00000491557.1:n.*3984C>G
ENST00000638877.1:c.1264C>G
ENST00000639046.1:c.754C>G	ENSP00000492659.1:p.Leu252Val
ENST00000639111.2:c.1363C>G	ENSP00000492125.2:p.Leu455Val
ENST00000639213.2:c.1387C>G MANE Select	ENSP00000491909.2:p.Leu463Val
ENST00000639278.1:c.2050C>G	ENSP00000491958.1:n.2050C>G
ENST00000639384.1:c.*1568C>G	ENSP00000491240.1:n.*1568C>G
ENST00000639424.1:c.*587C>G	ENSP00000491245.1:n.*587C>G
ENST00000639683.1:c.1321C>G	ENSP00000492581.1:p.Leu441Val
ENST00000639975.1:c.1297C>G	ENSP00000492096.1:p.Leu433Val
ENST00000640500.1:n.661C>G
ENST00000640739.1:n.6334C>G
ENST00000640910.1:c.825C>G
ENST00000640985.1:c.1300C>G	ENSP00000492293.1:p.Leu434Val
ENST00000641017.1:c.1456C>G	ENSP00000493461.1:p.Leu486Val
ENST00000356592.7:c.1387C>G	ENSP00000349000.3:p.Leu463Val
ENST00000361925.8:c.1363C>G	ENSP00000354651.4:p.Leu455Val
ENST00000414552.6:c.1507C>G	ENSP00000410732.2:p.Leu503Val
ENST00000522990.5:c.*965C>G	ENSP00000430732.1:n.*965C>G
ENST00000523372.1:c.1484C>G	ENSP00000430124.1:n.1484C>G
NM_000816.3:c.1363C>G	NP_000807.2:p.Leu455Val
NM_198903.2:c.1507C>G	NP_944493.2:p.Leu503Val
NM_198904.2:c.1387C>G	NP_944494.1:p.Leu463Val
NM_001375339.1:c.1378C>G	NP_001362268.1:p.Leu460Val
NM_001375340.1:c.*221C>G	NP_001362269.1:n.*221C>G
NM_001375341.1:c.1384C>G	NP_001362270.1:p.Leu462Val
NM_001375342.1:c.1360C>G	NP_001362271.1:p.Leu454Val
NM_001375343.1:c.1483C>G	NP_001362272.1:p.Leu495Val
NM_001375344.1:c.1426C>G	NP_001362273.1:p.Leu476Val
NM_001375345.1:c.1297C>G	NP_001362274.1:p.Leu433Val
NM_001375346.1:c.1321C>G	NP_001362275.1:p.Leu441Val
NM_001375347.1:c.1300C>G	NP_001362276.1:p.Leu434Val
NM_001375348.1:c.943C>G	NP_001362277.1:p.Leu315Val
NM_001375349.1:c.1078C>G	NP_001362278.1:p.Leu360Val
NM_001375350.1:c.967C>G	NP_001362279.1:p.Leu323Val
NM_198904.3:c.1387C>G	NP_944494.1:p.Leu463Val
NM_198904.4:c.1387C>G MANE Select	NP_944494.1:p.Leu463Val