Canonical Allele Identifier: CA447610239

Gene: GABRG2

Linked Data

• ClinVar Variation Id: 799819
• ClinVar RCV Id: RCV000983438
• dbSNP Id: rs1207623268
• gnomAD v2: 5-161576139-C-A
• gnomAD v3: 5-162149133-C-A
• gnomAD v4: 5-162149133-C-A
• MyVariant Identifiers: chr5:g.161576139C>A (hg19) ; chr5:g.162149133C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162149133C>A , CM000667.2:g.162149133C>A	GRCh38
NC_000005.9:g.161576139C>A , CM000667.1:g.161576139C>A	GRCh37
NC_000005.8:g.161508717C>A	NCBI36
NG_009290.1:g.86492C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.949C>A
ENST00000361925.9:c.1068C>A	ENSP00000354651.5:p.Thr356=
ENST00000522053.2:n.839C>A
ENST00000523372.2:c.1031C>A
ENST00000638253.1:n.202C>A
ENST00000638552.1:c.663C>A	ENSP00000491763.1:p.Thr221=
ENST00000638660.1:c.663C>A	ENSP00000492869.1:p.Thr221=
ENST00000638772.1:c.948C>A	ENSP00000491557.1:p.Thr316=
ENST00000638877.1:c.825C>A
ENST00000639046.1:c.339C>A	ENSP00000492659.1:p.Thr113=
ENST00000639111.2:c.948C>A	ENSP00000492125.2:p.Thr316=
ENST00000639213.2:c.948C>A MANE Select	ENSP00000491909.2:p.Thr316=
ENST00000639278.1:c.876C>A	ENSP00000491958.1:p.Thr292=
ENST00000639384.1:c.948C>A	ENSP00000491240.1:p.Thr316=
ENST00000639424.1:c.*148C>A	ENSP00000491245.1:n.*148C>A
ENST00000639683.1:c.882C>A	ENSP00000492581.1:p.Thr294=
ENST00000639975.1:c.882C>A	ENSP00000492096.1:p.Thr294=
ENST00000640500.1:n.246C>A
ENST00000640574.1:c.663C>A	ENSP00000491582.1:p.Thr221=
ENST00000640739.1:n.3479C>A
ENST00000640910.1:c.386C>A
ENST00000640985.1:c.861C>A	ENSP00000492293.1:p.Thr287=
ENST00000641017.1:c.948C>A	ENSP00000493461.1:p.Thr316=
ENST00000356592.7:c.948C>A	ENSP00000349000.3:p.Thr316=
ENST00000361925.8:c.948C>A	ENSP00000354651.4:p.Thr316=
ENST00000414552.6:c.1068C>A	ENSP00000410732.2:p.Thr356=
ENST00000522053.1:c.663C>A	ENSP00000430182.1:p.Thr221=
ENST00000522990.5:c.*550C>A	ENSP00000430732.1:n.*550C>A
ENST00000523372.1:c.1069C>A	ENSP00000430124.1:n.1069C>A
NM_000816.3:c.948C>A	NP_000807.2:p.Thr316=
NM_198903.2:c.1068C>A	NP_944493.2:p.Thr356=
NM_198904.2:c.948C>A	NP_944494.1:p.Thr316=
NM_001375339.1:c.939C>A	NP_001362268.1:p.Thr313=
NM_001375340.1:c.923-2597C>A	NP_001362269.1:n.923-2597C>A
NM_001375341.1:c.945C>A	NP_001362270.1:p.Thr315=
NM_001375342.1:c.945C>A	NP_001362271.1:p.Thr315=
NM_001375343.1:c.1068C>A	NP_001362272.1:p.Thr356=
NM_001375344.1:c.987C>A	NP_001362273.1:p.Thr329=
NM_001375345.1:c.882C>A	NP_001362274.1:p.Thr294=
NM_001375346.1:c.882C>A	NP_001362275.1:p.Thr294=
NM_001375347.1:c.861C>A	NP_001362276.1:p.Thr287=
NM_001375348.1:c.528C>A	NP_001362277.1:p.Thr176=
NM_001375349.1:c.663C>A	NP_001362278.1:p.Thr221=
NM_001375350.1:c.528C>A	NP_001362279.1:p.Thr176=
NM_198904.3:c.948C>A	NP_944494.1:p.Thr316=
NM_198904.4:c.948C>A MANE Select	NP_944494.1:p.Thr316=