Canonical Allele Identifier: CA447691797

Gene: GABRG2

Linked Data

• dbSNP Id: rs1341698741
• gnomAD v3: 5-162153209-C-T
• gnomAD v4: 5-162153209-C-T
• MyVariant Identifiers: chr5:g.161580215C>T (hg19) ; chr5:g.162153209C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153209C>T , CM000667.2:g.162153209C>T	GRCh38
NC_000005.9:g.161580215C>T , CM000667.1:g.161580215C>T	GRCh37
NC_000005.8:g.161512793C>T	NCBI36
NG_009290.1:g.90568C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1270C>T
ENST00000361925.9:c.1365C>T	ENSP00000354651.5:p.Ala455=
ENST00000523372.2:c.1328C>T
ENST00000638253.1:n.523C>T
ENST00000638552.1:c.960C>T	ENSP00000491763.1:p.Ala320=
ENST00000638660.1:c.984C>T	ENSP00000492869.1:p.Ala328=
ENST00000638772.1:c.*3866C>T	ENSP00000491557.1:n.*3866C>T
ENST00000638877.1:c.1146C>T
ENST00000639046.1:c.636C>T	ENSP00000492659.1:p.Ala212=
ENST00000639111.2:c.1245C>T	ENSP00000492125.2:p.Ala415=
ENST00000639213.2:c.1269C>T MANE Select	ENSP00000491909.2:p.Ala423=
ENST00000639278.1:c.1932C>T	ENSP00000491958.1:n.1932C>T
ENST00000639384.1:c.*1450C>T	ENSP00000491240.1:n.*1450C>T
ENST00000639424.1:c.*469C>T	ENSP00000491245.1:n.*469C>T
ENST00000639683.1:c.1203C>T	ENSP00000492581.1:p.Ala401=
ENST00000639975.1:c.1179C>T	ENSP00000492096.1:p.Ala393=
ENST00000640500.1:n.543C>T
ENST00000640739.1:n.6216C>T
ENST00000640910.1:c.707C>T
ENST00000640985.1:c.1182C>T	ENSP00000492293.1:p.Ala394=
ENST00000641017.1:c.1338C>T	ENSP00000493461.1:p.Ala446=
ENST00000356592.7:c.1269C>T	ENSP00000349000.3:p.Ala423=
ENST00000361925.8:c.1245C>T	ENSP00000354651.4:p.Ala415=
ENST00000414552.6:c.1389C>T	ENSP00000410732.2:p.Ala463=
ENST00000522990.5:c.*847C>T	ENSP00000430732.1:n.*847C>T
ENST00000523372.1:c.1366C>T	ENSP00000430124.1:n.1366C>T
NM_000816.3:c.1245C>T	NP_000807.2:p.Ala415=
NM_198903.2:c.1389C>T	NP_944493.2:p.Ala463=
NM_198904.2:c.1269C>T	NP_944494.1:p.Ala423=
NM_001375339.1:c.1260C>T	NP_001362268.1:p.Ala420=
NM_001375340.1:c.*103C>T	NP_001362269.1:n.*103C>T
NM_001375341.1:c.1266C>T	NP_001362270.1:p.Ala422=
NM_001375342.1:c.1242C>T	NP_001362271.1:p.Ala414=
NM_001375343.1:c.1365C>T	NP_001362272.1:p.Ala455=
NM_001375344.1:c.1308C>T	NP_001362273.1:p.Ala436=
NM_001375345.1:c.1179C>T	NP_001362274.1:p.Ala393=
NM_001375346.1:c.1203C>T	NP_001362275.1:p.Ala401=
NM_001375347.1:c.1182C>T	NP_001362276.1:p.Ala394=
NM_001375348.1:c.825C>T	NP_001362277.1:p.Ala275=
NM_001375349.1:c.960C>T	NP_001362278.1:p.Ala320=
NM_001375350.1:c.849C>T	NP_001362279.1:p.Ala283=
NM_198904.3:c.1269C>T	NP_944494.1:p.Ala423=
NM_198904.4:c.1269C>T MANE Select	NP_944494.1:p.Ala423=