Canonical Allele Identifier: CA3544996

Gene: GABRG2

Linked Data

• ClinVar Variation Id: 352644
• ClinVar RCV Id: RCV002520352
• dbSNP Id: rs765904792
• ExAC: 5:161580335 G / A
• gnomAD v2: 5-161580335-G-A
• gnomAD v3: 5-162153329-G-A
• gnomAD v4: 5-162153329-G-A
• MyVariant Identifiers: chr5:g.161580335G>A (hg19) ; chr5:g.162153329G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153329G>A , CM000667.2:g.162153329G>A	GRCh38
NC_000005.9:g.161580335G>A , CM000667.1:g.161580335G>A	GRCh37
NC_000005.8:g.161512913G>A	NCBI36
NG_009290.1:g.90688G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000356592.8:c.1390G>A
ENST00000361925.9:c.1485G>A	ENSP00000354651.5:p.Leu495=
ENST00000523372.2:c.1448G>A
ENST00000638253.1:n.643G>A
ENST00000638552.1:c.1080G>A	ENSP00000491763.1:p.Leu360=
ENST00000638660.1:c.1104G>A	ENSP00000492869.1:p.Leu368=
ENST00000638772.1:c.*3986G>A	ENSP00000491557.1:n.*3986G>A
ENST00000638877.1:c.1266G>A
ENST00000639046.1:c.756G>A	ENSP00000492659.1:p.Leu252=
ENST00000639111.2:c.1365G>A	ENSP00000492125.2:p.Leu455=
ENST00000639213.2:c.1389G>A MANE Select	ENSP00000491909.2:p.Leu463=
ENST00000639278.1:c.2052G>A	ENSP00000491958.1:n.2052G>A
ENST00000639384.1:c.*1570G>A	ENSP00000491240.1:n.*1570G>A
ENST00000639424.1:c.*589G>A	ENSP00000491245.1:n.*589G>A
ENST00000639683.1:c.1323G>A	ENSP00000492581.1:p.Leu441=
ENST00000639975.1:c.1299G>A	ENSP00000492096.1:p.Leu433=
ENST00000640500.1:n.663G>A
ENST00000640739.1:n.6336G>A
ENST00000640910.1:c.827G>A
ENST00000640985.1:c.1302G>A	ENSP00000492293.1:p.Leu434=
ENST00000641017.1:c.1458G>A	ENSP00000493461.1:p.Leu486=
ENST00000356592.7:c.1389G>A	ENSP00000349000.3:p.Leu463=
ENST00000361925.8:c.1365G>A	ENSP00000354651.4:p.Leu455=
ENST00000414552.6:c.1509G>A	ENSP00000410732.2:p.Leu503=
ENST00000522990.5:c.*967G>A	ENSP00000430732.1:n.*967G>A
ENST00000523372.1:c.1486G>A	ENSP00000430124.1:n.1486G>A
NM_000816.3:c.1365G>A	NP_000807.2:p.Leu455=
NM_198903.2:c.1509G>A	NP_944493.2:p.Leu503=
NM_198904.2:c.1389G>A	NP_944494.1:p.Leu463=
NM_001375339.1:c.1380G>A	NP_001362268.1:p.Leu460=
NM_001375340.1:c.*223G>A	NP_001362269.1:n.*223G>A
NM_001375341.1:c.1386G>A	NP_001362270.1:p.Leu462=
NM_001375342.1:c.1362G>A	NP_001362271.1:p.Leu454=
NM_001375343.1:c.1485G>A	NP_001362272.1:p.Leu495=
NM_001375344.1:c.1428G>A	NP_001362273.1:p.Leu476=
NM_001375345.1:c.1299G>A	NP_001362274.1:p.Leu433=
NM_001375346.1:c.1323G>A	NP_001362275.1:p.Leu441=
NM_001375347.1:c.1302G>A	NP_001362276.1:p.Leu434=
NM_001375348.1:c.945G>A	NP_001362277.1:p.Leu315=
NM_001375349.1:c.1080G>A	NP_001362278.1:p.Leu360=
NM_001375350.1:c.969G>A	NP_001362279.1:p.Leu323=
NM_198904.3:c.1389G>A	NP_944494.1:p.Leu463=
NM_198904.4:c.1389G>A MANE Select	NP_944494.1:p.Leu463=