Canonical Allele Identifier: CA447691884

Gene: GABRG2

Linked Data

• ClinVar Variation Id: 1769084
• ClinVar RCV Id: RCV002383301
• gnomAD v4: 5-162153254-A-G
• MyVariant Identifiers: chr5:g.161580260A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153254A>G , CM000667.2:g.162153254A>G	GRCh38
NC_000005.9:g.161580260A>G , CM000667.1:g.161580260A>G	GRCh37
NC_000005.8:g.161512838A>G	NCBI36
NG_009290.1:g.90613A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1315A>G
ENST00000361925.9:c.1410A>G	ENSP00000354651.5:p.Arg470=
ENST00000523372.2:c.1373A>G
ENST00000638253.1:n.568A>G
ENST00000638552.1:c.1005A>G	ENSP00000491763.1:p.Arg335=
ENST00000638660.1:c.1029A>G	ENSP00000492869.1:p.Arg343=
ENST00000638772.1:c.*3911A>G	ENSP00000491557.1:n.*3911A>G
ENST00000638877.1:c.1191A>G
ENST00000639046.1:c.681A>G	ENSP00000492659.1:p.Arg227=
ENST00000639111.2:c.1290A>G	ENSP00000492125.2:p.Arg430=
ENST00000639213.2:c.1314A>G MANE Select	ENSP00000491909.2:p.Arg438=
ENST00000639278.1:c.1977A>G	ENSP00000491958.1:n.1977A>G
ENST00000639384.1:c.*1495A>G	ENSP00000491240.1:n.*1495A>G
ENST00000639424.1:c.*514A>G	ENSP00000491245.1:n.*514A>G
ENST00000639683.1:c.1248A>G	ENSP00000492581.1:p.Arg416=
ENST00000639975.1:c.1224A>G	ENSP00000492096.1:p.Arg408=
ENST00000640500.1:n.588A>G
ENST00000640739.1:n.6261A>G
ENST00000640910.1:c.752A>G
ENST00000640985.1:c.1227A>G	ENSP00000492293.1:p.Arg409=
ENST00000641017.1:c.1383A>G	ENSP00000493461.1:p.Arg461=
ENST00000356592.7:c.1314A>G	ENSP00000349000.3:p.Arg438=
ENST00000361925.8:c.1290A>G	ENSP00000354651.4:p.Arg430=
ENST00000414552.6:c.1434A>G	ENSP00000410732.2:p.Arg478=
ENST00000522990.5:c.*892A>G	ENSP00000430732.1:n.*892A>G
ENST00000523372.1:c.1411A>G	ENSP00000430124.1:n.1411A>G
NM_000816.3:c.1290A>G	NP_000807.2:p.Arg430=
NM_198903.2:c.1434A>G	NP_944493.2:p.Arg478=
NM_198904.2:c.1314A>G	NP_944494.1:p.Arg438=
NM_001375339.1:c.1305A>G	NP_001362268.1:p.Arg435=
NM_001375340.1:c.*148A>G	NP_001362269.1:n.*148A>G
NM_001375341.1:c.1311A>G	NP_001362270.1:p.Arg437=
NM_001375342.1:c.1287A>G	NP_001362271.1:p.Arg429=
NM_001375343.1:c.1410A>G	NP_001362272.1:p.Arg470=
NM_001375344.1:c.1353A>G	NP_001362273.1:p.Arg451=
NM_001375345.1:c.1224A>G	NP_001362274.1:p.Arg408=
NM_001375346.1:c.1248A>G	NP_001362275.1:p.Arg416=
NM_001375347.1:c.1227A>G	NP_001362276.1:p.Arg409=
NM_001375348.1:c.870A>G	NP_001362277.1:p.Arg290=
NM_001375349.1:c.1005A>G	NP_001362278.1:p.Arg335=
NM_001375350.1:c.894A>G	NP_001362279.1:p.Arg298=
NM_198904.3:c.1314A>G	NP_944494.1:p.Arg438=
NM_198904.4:c.1314A>G MANE Select	NP_944494.1:p.Arg438=