Canonical Allele Identifier: CA362184135

Gene: GABRG2

Linked Data

• MyVariant Identifiers: chr5:g.161580343T>A (hg19) ; chr5:g.162153337T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153337T>A , CM000667.2:g.162153337T>A	GRCh38
NC_000005.9:g.161580343T>A , CM000667.1:g.161580343T>A	GRCh37
NC_000005.8:g.161512921T>A	NCBI36
NG_009290.1:g.90696T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1398T>A
ENST00000361925.9:c.1493T>A	ENSP00000354651.5:p.Leu498Gln
ENST00000523372.2:c.1456T>A
ENST00000638253.1:n.651T>A
ENST00000638552.1:c.1088T>A	ENSP00000491763.1:p.Leu363Gln
ENST00000638660.1:c.1112T>A	ENSP00000492869.1:p.Leu371Gln
ENST00000638772.1:c.*3994T>A	ENSP00000491557.1:n.*3994T>A
ENST00000638877.1:c.1274T>A
ENST00000639046.1:c.764T>A	ENSP00000492659.1:p.Leu255Gln
ENST00000639111.2:c.1373T>A	ENSP00000492125.2:p.Leu458Gln
ENST00000639213.2:c.1397T>A MANE Select	ENSP00000491909.2:p.Leu466Gln
ENST00000639278.1:c.2060T>A	ENSP00000491958.1:n.2060T>A
ENST00000639384.1:c.*1578T>A	ENSP00000491240.1:n.*1578T>A
ENST00000639424.1:c.*597T>A	ENSP00000491245.1:n.*597T>A
ENST00000639683.1:c.1331T>A	ENSP00000492581.1:p.Leu444Gln
ENST00000639975.1:c.1307T>A	ENSP00000492096.1:p.Leu436Gln
ENST00000640500.1:n.671T>A
ENST00000640739.1:n.6344T>A
ENST00000640910.1:c.835T>A
ENST00000640985.1:c.1310T>A	ENSP00000492293.1:p.Leu437Gln
ENST00000641017.1:c.1466T>A	ENSP00000493461.1:p.Leu489Gln
ENST00000356592.7:c.1397T>A	ENSP00000349000.3:p.Leu466Gln
ENST00000361925.8:c.1373T>A	ENSP00000354651.4:p.Leu458Gln
ENST00000414552.6:c.1517T>A	ENSP00000410732.2:p.Leu506Gln
ENST00000522990.5:c.*975T>A	ENSP00000430732.1:n.*975T>A
ENST00000523372.1:c.1494T>A	ENSP00000430124.1:n.1494T>A
NM_000816.3:c.1373T>A	NP_000807.2:p.Leu458Gln
NM_198903.2:c.1517T>A	NP_944493.2:p.Leu506Gln
NM_198904.2:c.1397T>A	NP_944494.1:p.Leu466Gln
NM_001375339.1:c.1388T>A	NP_001362268.1:p.Leu463Gln
NM_001375340.1:c.*231T>A	NP_001362269.1:n.*231T>A
NM_001375341.1:c.1394T>A	NP_001362270.1:p.Leu465Gln
NM_001375342.1:c.1370T>A	NP_001362271.1:p.Leu457Gln
NM_001375343.1:c.1493T>A	NP_001362272.1:p.Leu498Gln
NM_001375344.1:c.1436T>A	NP_001362273.1:p.Leu479Gln
NM_001375345.1:c.1307T>A	NP_001362274.1:p.Leu436Gln
NM_001375346.1:c.1331T>A	NP_001362275.1:p.Leu444Gln
NM_001375347.1:c.1310T>A	NP_001362276.1:p.Leu437Gln
NM_001375348.1:c.953T>A	NP_001362277.1:p.Leu318Gln
NM_001375349.1:c.1088T>A	NP_001362278.1:p.Leu363Gln
NM_001375350.1:c.977T>A	NP_001362279.1:p.Leu326Gln
NM_198904.3:c.1397T>A	NP_944494.1:p.Leu466Gln
NM_198904.4:c.1397T>A MANE Select	NP_944494.1:p.Leu466Gln