Canonical Allele Identifier: CA362183183

Gene: GABRG2

Linked Data

• MyVariant Identifiers: chr5:g.161580103C>A (hg19) ; chr5:g.162153097C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153097C>A , CM000667.2:g.162153097C>A	GRCh38
NC_000005.9:g.161580103C>A , CM000667.1:g.161580103C>A	GRCh37
NC_000005.8:g.161512681C>A	NCBI36
NG_009290.1:g.90456C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000356592.8:c.1158C>A
ENST00000361925.9:c.1253C>A	ENSP00000354651.5:p.Pro418His
ENST00000523372.2:c.1216C>A
ENST00000638253.1:n.411C>A
ENST00000638552.1:c.848C>A	ENSP00000491763.1:p.Pro283His
ENST00000638660.1:c.872C>A	ENSP00000492869.1:p.Pro291His
ENST00000638772.1:c.*3754C>A	ENSP00000491557.1:n.*3754C>A
ENST00000638877.1:c.1034C>A
ENST00000639046.1:c.524C>A	ENSP00000492659.1:p.Pro175His
ENST00000639111.2:c.1133C>A	ENSP00000492125.2:p.Pro378His
ENST00000639213.2:c.1157C>A MANE Select	ENSP00000491909.2:p.Pro386His
ENST00000639278.1:c.1820C>A	ENSP00000491958.1:n.1820C>A
ENST00000639384.1:c.*1338C>A	ENSP00000491240.1:n.*1338C>A
ENST00000639424.1:c.*357C>A	ENSP00000491245.1:n.*357C>A
ENST00000639683.1:c.1091C>A	ENSP00000492581.1:p.Pro364His
ENST00000639975.1:c.1067C>A	ENSP00000492096.1:p.Pro356His
ENST00000640500.1:n.431C>A
ENST00000640739.1:n.6104C>A
ENST00000640910.1:c.595C>A
ENST00000640985.1:c.1070C>A	ENSP00000492293.1:p.Pro357His
ENST00000641017.1:c.1226C>A	ENSP00000493461.1:p.Pro409His
ENST00000356592.7:c.1157C>A	ENSP00000349000.3:p.Pro386His
ENST00000361925.8:c.1133C>A	ENSP00000354651.4:p.Pro378His
ENST00000414552.6:c.1277C>A	ENSP00000410732.2:p.Pro426His
ENST00000522990.5:c.*735C>A	ENSP00000430732.1:n.*735C>A
ENST00000523372.1:c.1254C>A	ENSP00000430124.1:n.1254C>A
NM_000816.3:c.1133C>A	NP_000807.2:p.Pro378His
NM_198903.2:c.1277C>A	NP_944493.2:p.Pro426His
NM_198904.2:c.1157C>A	NP_944494.1:p.Pro386His
NM_001375339.1:c.1148C>A	NP_001362268.1:p.Pro383His
NM_001375340.1:c.951C>A	NP_001362269.1:p.Pro317=
NM_001375341.1:c.1154C>A	NP_001362270.1:p.Pro385His
NM_001375342.1:c.1130C>A	NP_001362271.1:p.Pro377His
NM_001375343.1:c.1253C>A	NP_001362272.1:p.Pro418His
NM_001375344.1:c.1196C>A	NP_001362273.1:p.Pro399His
NM_001375345.1:c.1067C>A	NP_001362274.1:p.Pro356His
NM_001375346.1:c.1091C>A	NP_001362275.1:p.Pro364His
NM_001375347.1:c.1070C>A	NP_001362276.1:p.Pro357His
NM_001375348.1:c.713C>A	NP_001362277.1:p.Pro238His
NM_001375349.1:c.848C>A	NP_001362278.1:p.Pro283His
NM_001375350.1:c.737C>A	NP_001362279.1:p.Pro246His
NM_198904.3:c.1157C>A	NP_944494.1:p.Pro386His
NM_198904.4:c.1157C>A MANE Select	NP_944494.1:p.Pro386His