Canonical Allele Identifier: CA362184008

Gene: GABRG2

Linked Data

• MyVariant Identifiers: chr5:g.161580315T>A (hg19) ; chr5:g.162153309T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153309T>A , CM000667.2:g.162153309T>A	GRCh38
NC_000005.9:g.161580315T>A , CM000667.1:g.161580315T>A	GRCh37
NC_000005.8:g.161512893T>A	NCBI36
NG_009290.1:g.90668T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1370T>A
ENST00000361925.9:c.1465T>A	ENSP00000354651.5:p.Phe489Ile
ENST00000523372.2:c.1428T>A
ENST00000638253.1:n.623T>A
ENST00000638552.1:c.1060T>A	ENSP00000491763.1:p.Phe354Ile
ENST00000638660.1:c.1084T>A	ENSP00000492869.1:p.Phe362Ile
ENST00000638772.1:c.*3966T>A	ENSP00000491557.1:n.*3966T>A
ENST00000638877.1:c.1246T>A
ENST00000639046.1:c.736T>A	ENSP00000492659.1:p.Phe246Ile
ENST00000639111.2:c.1345T>A	ENSP00000492125.2:p.Phe449Ile
ENST00000639213.2:c.1369T>A MANE Select	ENSP00000491909.2:p.Phe457Ile
ENST00000639278.1:c.2032T>A	ENSP00000491958.1:n.2032T>A
ENST00000639384.1:c.*1550T>A	ENSP00000491240.1:n.*1550T>A
ENST00000639424.1:c.*569T>A	ENSP00000491245.1:n.*569T>A
ENST00000639683.1:c.1303T>A	ENSP00000492581.1:p.Phe435Ile
ENST00000639975.1:c.1279T>A	ENSP00000492096.1:p.Phe427Ile
ENST00000640500.1:n.643T>A
ENST00000640739.1:n.6316T>A
ENST00000640910.1:c.807T>A
ENST00000640985.1:c.1282T>A	ENSP00000492293.1:p.Phe428Ile
ENST00000641017.1:c.1438T>A	ENSP00000493461.1:p.Phe480Ile
ENST00000356592.7:c.1369T>A	ENSP00000349000.3:p.Phe457Ile
ENST00000361925.8:c.1345T>A	ENSP00000354651.4:p.Phe449Ile
ENST00000414552.6:c.1489T>A	ENSP00000410732.2:p.Phe497Ile
ENST00000522990.5:c.*947T>A	ENSP00000430732.1:n.*947T>A
ENST00000523372.1:c.1466T>A	ENSP00000430124.1:n.1466T>A
NM_000816.3:c.1345T>A	NP_000807.2:p.Phe449Ile
NM_198903.2:c.1489T>A	NP_944493.2:p.Phe497Ile
NM_198904.2:c.1369T>A	NP_944494.1:p.Phe457Ile
NM_001375339.1:c.1360T>A	NP_001362268.1:p.Phe454Ile
NM_001375340.1:c.*203T>A	NP_001362269.1:n.*203T>A
NM_001375341.1:c.1366T>A	NP_001362270.1:p.Phe456Ile
NM_001375342.1:c.1342T>A	NP_001362271.1:p.Phe448Ile
NM_001375343.1:c.1465T>A	NP_001362272.1:p.Phe489Ile
NM_001375344.1:c.1408T>A	NP_001362273.1:p.Phe470Ile
NM_001375345.1:c.1279T>A	NP_001362274.1:p.Phe427Ile
NM_001375346.1:c.1303T>A	NP_001362275.1:p.Phe435Ile
NM_001375347.1:c.1282T>A	NP_001362276.1:p.Phe428Ile
NM_001375348.1:c.925T>A	NP_001362277.1:p.Phe309Ile
NM_001375349.1:c.1060T>A	NP_001362278.1:p.Phe354Ile
NM_001375350.1:c.949T>A	NP_001362279.1:p.Phe317Ile
NM_198904.3:c.1369T>A	NP_944494.1:p.Phe457Ile
NM_198904.4:c.1369T>A MANE Select	NP_944494.1:p.Phe457Ile