Canonical Allele Identifier: CA447691989

Gene: GABRG2

Linked Data

• dbSNP Id: rs1382035629
• gnomAD v2: 5-161580323-T-A
• gnomAD v4: 5-162153317-T-A
• MyVariant Identifiers: chr5:g.161580323T>A (hg19) ; chr5:g.162153317T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153317T>A , CM000667.2:g.162153317T>A	GRCh38
NC_000005.9:g.161580323T>A , CM000667.1:g.161580323T>A	GRCh37
NC_000005.8:g.161512901T>A	NCBI36
NG_009290.1:g.90676T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1378T>A
ENST00000361925.9:c.1473T>A	ENSP00000354651.5:p.Thr491=
ENST00000523372.2:c.1436T>A
ENST00000638253.1:n.631T>A
ENST00000638552.1:c.1068T>A	ENSP00000491763.1:p.Thr356=
ENST00000638660.1:c.1092T>A	ENSP00000492869.1:p.Thr364=
ENST00000638772.1:c.*3974T>A	ENSP00000491557.1:n.*3974T>A
ENST00000638877.1:c.1254T>A
ENST00000639046.1:c.744T>A	ENSP00000492659.1:p.Thr248=
ENST00000639111.2:c.1353T>A	ENSP00000492125.2:p.Thr451=
ENST00000639213.2:c.1377T>A MANE Select	ENSP00000491909.2:p.Thr459=
ENST00000639278.1:c.2040T>A	ENSP00000491958.1:n.2040T>A
ENST00000639384.1:c.*1558T>A	ENSP00000491240.1:n.*1558T>A
ENST00000639424.1:c.*577T>A	ENSP00000491245.1:n.*577T>A
ENST00000639683.1:c.1311T>A	ENSP00000492581.1:p.Thr437=
ENST00000639975.1:c.1287T>A	ENSP00000492096.1:p.Thr429=
ENST00000640500.1:n.651T>A
ENST00000640739.1:n.6324T>A
ENST00000640910.1:c.815T>A
ENST00000640985.1:c.1290T>A	ENSP00000492293.1:p.Thr430=
ENST00000641017.1:c.1446T>A	ENSP00000493461.1:p.Thr482=
ENST00000356592.7:c.1377T>A	ENSP00000349000.3:p.Thr459=
ENST00000361925.8:c.1353T>A	ENSP00000354651.4:p.Thr451=
ENST00000414552.6:c.1497T>A	ENSP00000410732.2:p.Thr499=
ENST00000522990.5:c.*955T>A	ENSP00000430732.1:n.*955T>A
ENST00000523372.1:c.1474T>A	ENSP00000430124.1:n.1474T>A
NM_000816.3:c.1353T>A	NP_000807.2:p.Thr451=
NM_198903.2:c.1497T>A	NP_944493.2:p.Thr499=
NM_198904.2:c.1377T>A	NP_944494.1:p.Thr459=
NM_001375339.1:c.1368T>A	NP_001362268.1:p.Thr456=
NM_001375340.1:c.*211T>A	NP_001362269.1:n.*211T>A
NM_001375341.1:c.1374T>A	NP_001362270.1:p.Thr458=
NM_001375342.1:c.1350T>A	NP_001362271.1:p.Thr450=
NM_001375343.1:c.1473T>A	NP_001362272.1:p.Thr491=
NM_001375344.1:c.1416T>A	NP_001362273.1:p.Thr472=
NM_001375345.1:c.1287T>A	NP_001362274.1:p.Thr429=
NM_001375346.1:c.1311T>A	NP_001362275.1:p.Thr437=
NM_001375347.1:c.1290T>A	NP_001362276.1:p.Thr430=
NM_001375348.1:c.933T>A	NP_001362277.1:p.Thr311=
NM_001375349.1:c.1068T>A	NP_001362278.1:p.Thr356=
NM_001375350.1:c.957T>A	NP_001362279.1:p.Thr319=
NM_198904.3:c.1377T>A	NP_944494.1:p.Thr459=
NM_198904.4:c.1377T>A MANE Select	NP_944494.1:p.Thr459=