Canonical Allele Identifier: CA447691982

Gene: GABRG2

Linked Data

• gnomAD v4: 5-162153314-C-A
• MyVariant Identifiers: chr5:g.161580320C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153314C>A , CM000667.2:g.162153314C>A	GRCh38
NC_000005.9:g.161580320C>A , CM000667.1:g.161580320C>A	GRCh37
NC_000005.8:g.161512898C>A	NCBI36
NG_009290.1:g.90673C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1375C>A
ENST00000361925.9:c.1470C>A	ENSP00000354651.5:p.Pro490=
ENST00000523372.2:c.1433C>A
ENST00000638253.1:n.628C>A
ENST00000638552.1:c.1065C>A	ENSP00000491763.1:p.Pro355=
ENST00000638660.1:c.1089C>A	ENSP00000492869.1:p.Pro363=
ENST00000638772.1:c.*3971C>A	ENSP00000491557.1:n.*3971C>A
ENST00000638877.1:c.1251C>A
ENST00000639046.1:c.741C>A	ENSP00000492659.1:p.Pro247=
ENST00000639111.2:c.1350C>A	ENSP00000492125.2:p.Pro450=
ENST00000639213.2:c.1374C>A MANE Select	ENSP00000491909.2:p.Pro458=
ENST00000639278.1:c.2037C>A	ENSP00000491958.1:n.2037C>A
ENST00000639384.1:c.*1555C>A	ENSP00000491240.1:n.*1555C>A
ENST00000639424.1:c.*574C>A	ENSP00000491245.1:n.*574C>A
ENST00000639683.1:c.1308C>A	ENSP00000492581.1:p.Pro436=
ENST00000639975.1:c.1284C>A	ENSP00000492096.1:p.Pro428=
ENST00000640500.1:n.648C>A
ENST00000640739.1:n.6321C>A
ENST00000640910.1:c.812C>A
ENST00000640985.1:c.1287C>A	ENSP00000492293.1:p.Pro429=
ENST00000641017.1:c.1443C>A	ENSP00000493461.1:p.Pro481=
ENST00000356592.7:c.1374C>A	ENSP00000349000.3:p.Pro458=
ENST00000361925.8:c.1350C>A	ENSP00000354651.4:p.Pro450=
ENST00000414552.6:c.1494C>A	ENSP00000410732.2:p.Pro498=
ENST00000522990.5:c.*952C>A	ENSP00000430732.1:n.*952C>A
ENST00000523372.1:c.1471C>A	ENSP00000430124.1:n.1471C>A
NM_000816.3:c.1350C>A	NP_000807.2:p.Pro450=
NM_198903.2:c.1494C>A	NP_944493.2:p.Pro498=
NM_198904.2:c.1374C>A	NP_944494.1:p.Pro458=
NM_001375339.1:c.1365C>A	NP_001362268.1:p.Pro455=
NM_001375340.1:c.*208C>A	NP_001362269.1:n.*208C>A
NM_001375341.1:c.1371C>A	NP_001362270.1:p.Pro457=
NM_001375342.1:c.1347C>A	NP_001362271.1:p.Pro449=
NM_001375343.1:c.1470C>A	NP_001362272.1:p.Pro490=
NM_001375344.1:c.1413C>A	NP_001362273.1:p.Pro471=
NM_001375345.1:c.1284C>A	NP_001362274.1:p.Pro428=
NM_001375346.1:c.1308C>A	NP_001362275.1:p.Pro436=
NM_001375347.1:c.1287C>A	NP_001362276.1:p.Pro429=
NM_001375348.1:c.930C>A	NP_001362277.1:p.Pro310=
NM_001375349.1:c.1065C>A	NP_001362278.1:p.Pro355=
NM_001375350.1:c.954C>A	NP_001362279.1:p.Pro318=
NM_198904.3:c.1374C>A	NP_944494.1:p.Pro458=
NM_198904.4:c.1374C>A MANE Select	NP_944494.1:p.Pro458=