Canonical Allele Identifier: CA362184239

Gene: GABRG2

Linked Data

• MyVariant Identifiers: chr5:g.161580363C>A (hg19) ; chr5:g.162153357C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153357C>A , CM000667.2:g.162153357C>A	GRCh38
NC_000005.9:g.161580363C>A , CM000667.1:g.161580363C>A	GRCh37
NC_000005.8:g.161512941C>A	NCBI36
NG_009290.1:g.90716C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1418C>A
ENST00000361925.9:c.1513C>A	ENSP00000354651.5:p.Leu505Ile
ENST00000523372.2:c.1476C>A
ENST00000638253.1:n.671C>A
ENST00000638552.1:c.1108C>A	ENSP00000491763.1:p.Leu370Ile
ENST00000638660.1:c.1132C>A	ENSP00000492869.1:p.Leu378Ile
ENST00000638772.1:c.*4014C>A	ENSP00000491557.1:n.*4014C>A
ENST00000638877.1:c.1294C>A
ENST00000639046.1:c.784C>A	ENSP00000492659.1:p.Leu262Ile
ENST00000639111.2:c.1393C>A	ENSP00000492125.2:p.Leu465Ile
ENST00000639213.2:c.1417C>A MANE Select	ENSP00000491909.2:p.Leu473Ile
ENST00000639278.1:c.2080C>A	ENSP00000491958.1:n.2080C>A
ENST00000639384.1:c.*1598C>A	ENSP00000491240.1:n.*1598C>A
ENST00000639424.1:c.*617C>A	ENSP00000491245.1:n.*617C>A
ENST00000639683.1:c.1351C>A	ENSP00000492581.1:p.Leu451Ile
ENST00000639975.1:c.1327C>A	ENSP00000492096.1:p.Leu443Ile
ENST00000640500.1:n.691C>A
ENST00000640739.1:n.6364C>A
ENST00000640910.1:c.855C>A
ENST00000640985.1:c.1330C>A	ENSP00000492293.1:p.Leu444Ile
ENST00000641017.1:c.1486C>A	ENSP00000493461.1:p.Leu496Ile
ENST00000356592.7:c.1417C>A	ENSP00000349000.3:p.Leu473Ile
ENST00000361925.8:c.1393C>A	ENSP00000354651.4:p.Leu465Ile
ENST00000414552.6:c.1537C>A	ENSP00000410732.2:p.Leu513Ile
ENST00000522990.5:c.*995C>A	ENSP00000430732.1:n.*995C>A
ENST00000523372.1:c.1514C>A	ENSP00000430124.1:n.1514C>A
NM_000816.3:c.1393C>A	NP_000807.2:p.Leu465Ile
NM_198903.2:c.1537C>A	NP_944493.2:p.Leu513Ile
NM_198904.2:c.1417C>A	NP_944494.1:p.Leu473Ile
NM_001375339.1:c.1408C>A	NP_001362268.1:p.Leu470Ile
NM_001375340.1:c.*251C>A	NP_001362269.1:n.*251C>A
NM_001375341.1:c.1414C>A	NP_001362270.1:p.Leu472Ile
NM_001375342.1:c.1390C>A	NP_001362271.1:p.Leu464Ile
NM_001375343.1:c.1513C>A	NP_001362272.1:p.Leu505Ile
NM_001375344.1:c.1456C>A	NP_001362273.1:p.Leu486Ile
NM_001375345.1:c.1327C>A	NP_001362274.1:p.Leu443Ile
NM_001375346.1:c.1351C>A	NP_001362275.1:p.Leu451Ile
NM_001375347.1:c.1330C>A	NP_001362276.1:p.Leu444Ile
NM_001375348.1:c.973C>A	NP_001362277.1:p.Leu325Ile
NM_001375349.1:c.1108C>A	NP_001362278.1:p.Leu370Ile
NM_001375350.1:c.997C>A	NP_001362279.1:p.Leu333Ile
NM_198904.3:c.1417C>A	NP_944494.1:p.Leu473Ile
NM_198904.4:c.1417C>A MANE Select	NP_944494.1:p.Leu473Ile