Canonical Allele Identifier: CA447692049

Gene: GABRG2

Linked Data

• MyVariant Identifiers: chr5:g.161580365C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153359C>G , CM000667.2:g.162153359C>G	GRCh38
NC_000005.9:g.161580365C>G , CM000667.1:g.161580365C>G	GRCh37
NC_000005.8:g.161512943C>G	NCBI36
NG_009290.1:g.90718C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1420C>G
ENST00000361925.9:c.1515C>G	ENSP00000354651.5:p.Leu505=
ENST00000523372.2:c.1478C>G
ENST00000638253.1:n.673C>G
ENST00000638552.1:c.1110C>G	ENSP00000491763.1:p.Leu370=
ENST00000638660.1:c.1134C>G	ENSP00000492869.1:p.Leu378=
ENST00000638772.1:c.*4016C>G	ENSP00000491557.1:n.*4016C>G
ENST00000638877.1:c.1296C>G
ENST00000639046.1:c.786C>G	ENSP00000492659.1:p.Leu262=
ENST00000639111.2:c.1395C>G	ENSP00000492125.2:p.Leu465=
ENST00000639213.2:c.1419C>G MANE Select	ENSP00000491909.2:p.Leu473=
ENST00000639278.1:c.2082C>G	ENSP00000491958.1:n.2082C>G
ENST00000639384.1:c.*1600C>G	ENSP00000491240.1:n.*1600C>G
ENST00000639424.1:c.*619C>G	ENSP00000491245.1:n.*619C>G
ENST00000639683.1:c.1353C>G	ENSP00000492581.1:p.Leu451=
ENST00000639975.1:c.1329C>G	ENSP00000492096.1:p.Leu443=
ENST00000640500.1:n.693C>G
ENST00000640739.1:n.6366C>G
ENST00000640910.1:c.857C>G
ENST00000640985.1:c.1332C>G	ENSP00000492293.1:p.Leu444=
ENST00000641017.1:c.1488C>G	ENSP00000493461.1:p.Leu496=
ENST00000356592.7:c.1419C>G	ENSP00000349000.3:p.Leu473=
ENST00000361925.8:c.1395C>G	ENSP00000354651.4:p.Leu465=
ENST00000414552.6:c.1539C>G	ENSP00000410732.2:p.Leu513=
ENST00000522990.5:c.*997C>G	ENSP00000430732.1:n.*997C>G
ENST00000523372.1:c.1516C>G	ENSP00000430124.1:n.1516C>G
NM_000816.3:c.1395C>G	NP_000807.2:p.Leu465=
NM_198903.2:c.1539C>G	NP_944493.2:p.Leu513=
NM_198904.2:c.1419C>G	NP_944494.1:p.Leu473=
NM_001375339.1:c.1410C>G	NP_001362268.1:p.Leu470=
NM_001375340.1:c.*253C>G	NP_001362269.1:n.*253C>G
NM_001375341.1:c.1416C>G	NP_001362270.1:p.Leu472=
NM_001375342.1:c.1392C>G	NP_001362271.1:p.Leu464=
NM_001375343.1:c.1515C>G	NP_001362272.1:p.Leu505=
NM_001375344.1:c.1458C>G	NP_001362273.1:p.Leu486=
NM_001375345.1:c.1329C>G	NP_001362274.1:p.Leu443=
NM_001375346.1:c.1353C>G	NP_001362275.1:p.Leu451=
NM_001375347.1:c.1332C>G	NP_001362276.1:p.Leu444=
NM_001375348.1:c.975C>G	NP_001362277.1:p.Leu325=
NM_001375349.1:c.1110C>G	NP_001362278.1:p.Leu370=
NM_001375350.1:c.999C>G	NP_001362279.1:p.Leu333=
NM_198904.3:c.1419C>G	NP_944494.1:p.Leu473=
NM_198904.4:c.1419C>G MANE Select	NP_944494.1:p.Leu473=