Canonical Allele Identifier: CA447691906

Gene: GABRG2

Linked Data

• COSMIC: COSM4937207
• MyVariant Identifiers: chr5:g.161580269G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153263G>A , CM000667.2:g.162153263G>A	GRCh38
NC_000005.9:g.161580269G>A , CM000667.1:g.161580269G>A	GRCh37
NC_000005.8:g.161512847G>A	NCBI36
NG_009290.1:g.90622G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1324G>A
ENST00000361925.9:c.1419G>A	ENSP00000354651.5:p.Arg473=
ENST00000523372.2:c.1382G>A
ENST00000638253.1:n.577G>A
ENST00000638552.1:c.1014G>A	ENSP00000491763.1:p.Arg338=
ENST00000638660.1:c.1038G>A	ENSP00000492869.1:p.Arg346=
ENST00000638772.1:c.*3920G>A	ENSP00000491557.1:n.*3920G>A
ENST00000638877.1:c.1200G>A
ENST00000639046.1:c.690G>A	ENSP00000492659.1:p.Arg230=
ENST00000639111.2:c.1299G>A	ENSP00000492125.2:p.Arg433=
ENST00000639213.2:c.1323G>A MANE Select	ENSP00000491909.2:p.Arg441=
ENST00000639278.1:c.1986G>A	ENSP00000491958.1:n.1986G>A
ENST00000639384.1:c.*1504G>A	ENSP00000491240.1:n.*1504G>A
ENST00000639424.1:c.*523G>A	ENSP00000491245.1:n.*523G>A
ENST00000639683.1:c.1257G>A	ENSP00000492581.1:p.Arg419=
ENST00000639975.1:c.1233G>A	ENSP00000492096.1:p.Arg411=
ENST00000640500.1:n.597G>A
ENST00000640739.1:n.6270G>A
ENST00000640910.1:c.761G>A
ENST00000640985.1:c.1236G>A	ENSP00000492293.1:p.Arg412=
ENST00000641017.1:c.1392G>A	ENSP00000493461.1:p.Arg464=
ENST00000356592.7:c.1323G>A	ENSP00000349000.3:p.Arg441=
ENST00000361925.8:c.1299G>A	ENSP00000354651.4:p.Arg433=
ENST00000414552.6:c.1443G>A	ENSP00000410732.2:p.Arg481=
ENST00000522990.5:c.*901G>A	ENSP00000430732.1:n.*901G>A
ENST00000523372.1:c.1420G>A	ENSP00000430124.1:n.1420G>A
NM_000816.3:c.1299G>A	NP_000807.2:p.Arg433=
NM_198903.2:c.1443G>A	NP_944493.2:p.Arg481=
NM_198904.2:c.1323G>A	NP_944494.1:p.Arg441=
NM_001375339.1:c.1314G>A	NP_001362268.1:p.Arg438=
NM_001375340.1:c.*157G>A	NP_001362269.1:n.*157G>A
NM_001375341.1:c.1320G>A	NP_001362270.1:p.Arg440=
NM_001375342.1:c.1296G>A	NP_001362271.1:p.Arg432=
NM_001375343.1:c.1419G>A	NP_001362272.1:p.Arg473=
NM_001375344.1:c.1362G>A	NP_001362273.1:p.Arg454=
NM_001375345.1:c.1233G>A	NP_001362274.1:p.Arg411=
NM_001375346.1:c.1257G>A	NP_001362275.1:p.Arg419=
NM_001375347.1:c.1236G>A	NP_001362276.1:p.Arg412=
NM_001375348.1:c.879G>A	NP_001362277.1:p.Arg293=
NM_001375349.1:c.1014G>A	NP_001362278.1:p.Arg338=
NM_001375350.1:c.903G>A	NP_001362279.1:p.Arg301=
NM_198904.3:c.1323G>A	NP_944494.1:p.Arg441=
NM_198904.4:c.1323G>A MANE Select	NP_944494.1:p.Arg441=