Canonical Allele Identifier: CA362184019

Gene: GABRG2

Linked Data

• MyVariant Identifiers: chr5:g.161580317C>A (hg19) ; chr5:g.162153311C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153311C>A , CM000667.2:g.162153311C>A	GRCh38
NC_000005.9:g.161580317C>A , CM000667.1:g.161580317C>A	GRCh37
NC_000005.8:g.161512895C>A	NCBI36
NG_009290.1:g.90670C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1372C>A
ENST00000361925.9:c.1467C>A	ENSP00000354651.5:p.Phe489Leu
ENST00000523372.2:c.1430C>A
ENST00000638253.1:n.625C>A
ENST00000638552.1:c.1062C>A	ENSP00000491763.1:p.Phe354Leu
ENST00000638660.1:c.1086C>A	ENSP00000492869.1:p.Phe362Leu
ENST00000638772.1:c.*3968C>A	ENSP00000491557.1:n.*3968C>A
ENST00000638877.1:c.1248C>A
ENST00000639046.1:c.738C>A	ENSP00000492659.1:p.Phe246Leu
ENST00000639111.2:c.1347C>A	ENSP00000492125.2:p.Phe449Leu
ENST00000639213.2:c.1371C>A MANE Select	ENSP00000491909.2:p.Phe457Leu
ENST00000639278.1:c.2034C>A	ENSP00000491958.1:n.2034C>A
ENST00000639384.1:c.*1552C>A	ENSP00000491240.1:n.*1552C>A
ENST00000639424.1:c.*571C>A	ENSP00000491245.1:n.*571C>A
ENST00000639683.1:c.1305C>A	ENSP00000492581.1:p.Phe435Leu
ENST00000639975.1:c.1281C>A	ENSP00000492096.1:p.Phe427Leu
ENST00000640500.1:n.645C>A
ENST00000640739.1:n.6318C>A
ENST00000640910.1:c.809C>A
ENST00000640985.1:c.1284C>A	ENSP00000492293.1:p.Phe428Leu
ENST00000641017.1:c.1440C>A	ENSP00000493461.1:p.Phe480Leu
ENST00000356592.7:c.1371C>A	ENSP00000349000.3:p.Phe457Leu
ENST00000361925.8:c.1347C>A	ENSP00000354651.4:p.Phe449Leu
ENST00000414552.6:c.1491C>A	ENSP00000410732.2:p.Phe497Leu
ENST00000522990.5:c.*949C>A	ENSP00000430732.1:n.*949C>A
ENST00000523372.1:c.1468C>A	ENSP00000430124.1:n.1468C>A
NM_000816.3:c.1347C>A	NP_000807.2:p.Phe449Leu
NM_198903.2:c.1491C>A	NP_944493.2:p.Phe497Leu
NM_198904.2:c.1371C>A	NP_944494.1:p.Phe457Leu
NM_001375339.1:c.1362C>A	NP_001362268.1:p.Phe454Leu
NM_001375340.1:c.*205C>A	NP_001362269.1:n.*205C>A
NM_001375341.1:c.1368C>A	NP_001362270.1:p.Phe456Leu
NM_001375342.1:c.1344C>A	NP_001362271.1:p.Phe448Leu
NM_001375343.1:c.1467C>A	NP_001362272.1:p.Phe489Leu
NM_001375344.1:c.1410C>A	NP_001362273.1:p.Phe470Leu
NM_001375345.1:c.1281C>A	NP_001362274.1:p.Phe427Leu
NM_001375346.1:c.1305C>A	NP_001362275.1:p.Phe435Leu
NM_001375347.1:c.1284C>A	NP_001362276.1:p.Phe428Leu
NM_001375348.1:c.927C>A	NP_001362277.1:p.Phe309Leu
NM_001375349.1:c.1062C>A	NP_001362278.1:p.Phe354Leu
NM_001375350.1:c.951C>A	NP_001362279.1:p.Phe317Leu
NM_198904.3:c.1371C>A	NP_944494.1:p.Phe457Leu
NM_198904.4:c.1371C>A MANE Select	NP_944494.1:p.Phe457Leu