Canonical Allele Identifier: CA362183737

Gene: GABRG2

Linked Data

• MyVariant Identifiers: chr5:g.161580247C>T (hg19) ; chr5:g.162153241C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153241C>T , CM000667.2:g.162153241C>T	GRCh38
NC_000005.9:g.161580247C>T , CM000667.1:g.161580247C>T	GRCh37
NC_000005.8:g.161512825C>T	NCBI36
NG_009290.1:g.90600C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1302C>T
ENST00000361925.9:c.1397C>T	ENSP00000354651.5:p.Thr466Ile
ENST00000523372.2:c.1360C>T
ENST00000638253.1:n.555C>T
ENST00000638552.1:c.992C>T	ENSP00000491763.1:p.Thr331Ile
ENST00000638660.1:c.1016C>T	ENSP00000492869.1:p.Thr339Ile
ENST00000638772.1:c.*3898C>T	ENSP00000491557.1:n.*3898C>T
ENST00000638877.1:c.1178C>T
ENST00000639046.1:c.668C>T	ENSP00000492659.1:p.Thr223Ile
ENST00000639111.2:c.1277C>T	ENSP00000492125.2:p.Thr426Ile
ENST00000639213.2:c.1301C>T MANE Select	ENSP00000491909.2:p.Thr434Ile
ENST00000639278.1:c.1964C>T	ENSP00000491958.1:n.1964C>T
ENST00000639384.1:c.*1482C>T	ENSP00000491240.1:n.*1482C>T
ENST00000639424.1:c.*501C>T	ENSP00000491245.1:n.*501C>T
ENST00000639683.1:c.1235C>T	ENSP00000492581.1:p.Thr412Ile
ENST00000639975.1:c.1211C>T	ENSP00000492096.1:p.Thr404Ile
ENST00000640500.1:n.575C>T
ENST00000640739.1:n.6248C>T
ENST00000640910.1:c.739C>T
ENST00000640985.1:c.1214C>T	ENSP00000492293.1:p.Thr405Ile
ENST00000641017.1:c.1370C>T	ENSP00000493461.1:p.Thr457Ile
ENST00000356592.7:c.1301C>T	ENSP00000349000.3:p.Thr434Ile
ENST00000361925.8:c.1277C>T	ENSP00000354651.4:p.Thr426Ile
ENST00000414552.6:c.1421C>T	ENSP00000410732.2:p.Thr474Ile
ENST00000522990.5:c.*879C>T	ENSP00000430732.1:n.*879C>T
ENST00000523372.1:c.1398C>T	ENSP00000430124.1:n.1398C>T
NM_000816.3:c.1277C>T	NP_000807.2:p.Thr426Ile
NM_198903.2:c.1421C>T	NP_944493.2:p.Thr474Ile
NM_198904.2:c.1301C>T	NP_944494.1:p.Thr434Ile
NM_001375339.1:c.1292C>T	NP_001362268.1:p.Thr431Ile
NM_001375340.1:c.*135C>T	NP_001362269.1:n.*135C>T
NM_001375341.1:c.1298C>T	NP_001362270.1:p.Thr433Ile
NM_001375342.1:c.1274C>T	NP_001362271.1:p.Thr425Ile
NM_001375343.1:c.1397C>T	NP_001362272.1:p.Thr466Ile
NM_001375344.1:c.1340C>T	NP_001362273.1:p.Thr447Ile
NM_001375345.1:c.1211C>T	NP_001362274.1:p.Thr404Ile
NM_001375346.1:c.1235C>T	NP_001362275.1:p.Thr412Ile
NM_001375347.1:c.1214C>T	NP_001362276.1:p.Thr405Ile
NM_001375348.1:c.857C>T	NP_001362277.1:p.Thr286Ile
NM_001375349.1:c.992C>T	NP_001362278.1:p.Thr331Ile
NM_001375350.1:c.881C>T	NP_001362279.1:p.Thr294Ile
NM_198904.3:c.1301C>T	NP_944494.1:p.Thr434Ile
NM_198904.4:c.1301C>T MANE Select	NP_944494.1:p.Thr434Ile