Canonical Allele Identifier: CA447692058

Gene: GABRG2

Linked Data

• dbSNP Id: rs1257556768
• gnomAD v2: 5-161580373-G-A
• gnomAD v4: 5-162153367-G-A
• MyVariant Identifiers: chr5:g.161580373G>A (hg19) ; chr5:g.162153367G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153367G>A , CM000667.2:g.162153367G>A	GRCh38
NC_000005.9:g.161580373G>A , CM000667.1:g.161580373G>A	GRCh37
NC_000005.8:g.161512951G>A	NCBI36
NG_009290.1:g.90726G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1428G>A
ENST00000361925.9:c.1523G>A	ENSP00000354651.5:p.Ter508=
ENST00000523372.2:c.1486G>A
ENST00000638253.1:n.681G>A
ENST00000638552.1:c.1118G>A	ENSP00000491763.1:p.Ter373=
ENST00000638660.1:c.1142G>A	ENSP00000492869.1:p.Ter381=
ENST00000638772.1:c.*4024G>A	ENSP00000491557.1:n.*4024G>A
ENST00000638877.1:c.1304G>A
ENST00000639046.1:c.794G>A	ENSP00000492659.1:p.Ter265=
ENST00000639111.2:c.1403G>A	ENSP00000492125.2:p.Ter468=
ENST00000639213.2:c.1427G>A MANE Select	ENSP00000491909.2:p.Ter476=
ENST00000639278.1:c.2090G>A	ENSP00000491958.1:n.2090G>A
ENST00000639384.1:c.*1608G>A	ENSP00000491240.1:n.*1608G>A
ENST00000639424.1:c.*627G>A	ENSP00000491245.1:n.*627G>A
ENST00000639683.1:c.1361G>A	ENSP00000492581.1:p.Ter454=
ENST00000639975.1:c.1337G>A	ENSP00000492096.1:p.Ter446=
ENST00000640500.1:n.701G>A
ENST00000640739.1:n.6374G>A
ENST00000640910.1:c.865G>A
ENST00000640985.1:c.1340G>A	ENSP00000492293.1:p.Ter447=
ENST00000641017.1:c.1496G>A	ENSP00000493461.1:p.Ter499=
ENST00000356592.7:c.1427G>A	ENSP00000349000.3:p.Ter476=
ENST00000361925.8:c.1403G>A	ENSP00000354651.4:p.Ter468=
ENST00000414552.6:c.1547G>A	ENSP00000410732.2:p.Ter516=
ENST00000522990.5:c.*1005G>A	ENSP00000430732.1:n.*1005G>A
ENST00000523372.1:c.1524G>A	ENSP00000430124.1:n.1524G>A
NM_000816.3:c.1403G>A	NP_000807.2:p.Ter468=
NM_198903.2:c.1547G>A	NP_944493.2:p.Ter516=
NM_198904.2:c.1427G>A	NP_944494.1:p.Ter476=
NM_001375339.1:c.1418G>A	NP_001362268.1:p.Ter473=
NM_001375340.1:c.*261G>A	NP_001362269.1:n.*261G>A
NM_001375341.1:c.1424G>A	NP_001362270.1:p.Ter475=
NM_001375342.1:c.1400G>A	NP_001362271.1:p.Ter467=
NM_001375343.1:c.1523G>A	NP_001362272.1:p.Ter508=
NM_001375344.1:c.1466G>A	NP_001362273.1:p.Ter489=
NM_001375345.1:c.1337G>A	NP_001362274.1:p.Ter446=
NM_001375346.1:c.1361G>A	NP_001362275.1:p.Ter454=
NM_001375347.1:c.1340G>A	NP_001362276.1:p.Ter447=
NM_001375348.1:c.983G>A	NP_001362277.1:p.Ter328=
NM_001375349.1:c.1118G>A	NP_001362278.1:p.Ter373=
NM_001375350.1:c.1007G>A	NP_001362279.1:p.Ter336=
NM_198904.3:c.1427G>A	NP_944494.1:p.Ter476=
NM_198904.4:c.1427G>A MANE Select	NP_944494.1:p.Ter476=