Canonical Allele Identifier: CA447692033

Gene: GABRG2

Linked Data

• gnomAD v4: 5-162153350-C-A
• MyVariant Identifiers: chr5:g.161580356C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153350C>A , CM000667.2:g.162153350C>A	GRCh38
NC_000005.9:g.161580356C>A , CM000667.1:g.161580356C>A	GRCh37
NC_000005.8:g.161512934C>A	NCBI36
NG_009290.1:g.90709C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1411C>A
ENST00000361925.9:c.1506C>A	ENSP00000354651.5:p.Val502=
ENST00000523372.2:c.1469C>A
ENST00000638253.1:n.664C>A
ENST00000638552.1:c.1101C>A	ENSP00000491763.1:p.Val367=
ENST00000638660.1:c.1125C>A	ENSP00000492869.1:p.Val375=
ENST00000638772.1:c.*4007C>A	ENSP00000491557.1:n.*4007C>A
ENST00000638877.1:c.1287C>A
ENST00000639046.1:c.777C>A	ENSP00000492659.1:p.Val259=
ENST00000639111.2:c.1386C>A	ENSP00000492125.2:p.Val462=
ENST00000639213.2:c.1410C>A MANE Select	ENSP00000491909.2:p.Val470=
ENST00000639278.1:c.2073C>A	ENSP00000491958.1:n.2073C>A
ENST00000639384.1:c.*1591C>A	ENSP00000491240.1:n.*1591C>A
ENST00000639424.1:c.*610C>A	ENSP00000491245.1:n.*610C>A
ENST00000639683.1:c.1344C>A	ENSP00000492581.1:p.Val448=
ENST00000639975.1:c.1320C>A	ENSP00000492096.1:p.Val440=
ENST00000640500.1:n.684C>A
ENST00000640739.1:n.6357C>A
ENST00000640910.1:c.848C>A
ENST00000640985.1:c.1323C>A	ENSP00000492293.1:p.Val441=
ENST00000641017.1:c.1479C>A	ENSP00000493461.1:p.Val493=
ENST00000356592.7:c.1410C>A	ENSP00000349000.3:p.Val470=
ENST00000361925.8:c.1386C>A	ENSP00000354651.4:p.Val462=
ENST00000414552.6:c.1530C>A	ENSP00000410732.2:p.Val510=
ENST00000522990.5:c.*988C>A	ENSP00000430732.1:n.*988C>A
ENST00000523372.1:c.1507C>A	ENSP00000430124.1:n.1507C>A
NM_000816.3:c.1386C>A	NP_000807.2:p.Val462=
NM_198903.2:c.1530C>A	NP_944493.2:p.Val510=
NM_198904.2:c.1410C>A	NP_944494.1:p.Val470=
NM_001375339.1:c.1401C>A	NP_001362268.1:p.Val467=
NM_001375340.1:c.*244C>A	NP_001362269.1:n.*244C>A
NM_001375341.1:c.1407C>A	NP_001362270.1:p.Val469=
NM_001375342.1:c.1383C>A	NP_001362271.1:p.Val461=
NM_001375343.1:c.1506C>A	NP_001362272.1:p.Val502=
NM_001375344.1:c.1449C>A	NP_001362273.1:p.Val483=
NM_001375345.1:c.1320C>A	NP_001362274.1:p.Val440=
NM_001375346.1:c.1344C>A	NP_001362275.1:p.Val448=
NM_001375347.1:c.1323C>A	NP_001362276.1:p.Val441=
NM_001375348.1:c.966C>A	NP_001362277.1:p.Val322=
NM_001375349.1:c.1101C>A	NP_001362278.1:p.Val367=
NM_001375350.1:c.990C>A	NP_001362279.1:p.Val330=
NM_198904.3:c.1410C>A	NP_944494.1:p.Val470=
NM_198904.4:c.1410C>A MANE Select	NP_944494.1:p.Val470=