Canonical Allele Identifier: CA362183640

Gene: GABRG2

Linked Data

• MyVariant Identifiers: chr5:g.161580229G>T (hg19) ; chr5:g.162153223G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153223G>T , CM000667.2:g.162153223G>T	GRCh38
NC_000005.9:g.161580229G>T , CM000667.1:g.161580229G>T	GRCh37
NC_000005.8:g.161512807G>T	NCBI36
NG_009290.1:g.90582G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1284G>T
ENST00000361925.9:c.1379G>T	ENSP00000354651.5:p.Cys460Phe
ENST00000523372.2:c.1342G>T
ENST00000638253.1:n.537G>T
ENST00000638552.1:c.974G>T	ENSP00000491763.1:p.Cys325Phe
ENST00000638660.1:c.998G>T	ENSP00000492869.1:p.Cys333Phe
ENST00000638772.1:c.*3880G>T	ENSP00000491557.1:n.*3880G>T
ENST00000638877.1:c.1160G>T
ENST00000639046.1:c.650G>T	ENSP00000492659.1:p.Cys217Phe
ENST00000639111.2:c.1259G>T	ENSP00000492125.2:p.Cys420Phe
ENST00000639213.2:c.1283G>T MANE Select	ENSP00000491909.2:p.Cys428Phe
ENST00000639278.1:c.1946G>T	ENSP00000491958.1:n.1946G>T
ENST00000639384.1:c.*1464G>T	ENSP00000491240.1:n.*1464G>T
ENST00000639424.1:c.*483G>T	ENSP00000491245.1:n.*483G>T
ENST00000639683.1:c.1217G>T	ENSP00000492581.1:p.Cys406Phe
ENST00000639975.1:c.1193G>T	ENSP00000492096.1:p.Cys398Phe
ENST00000640500.1:n.557G>T
ENST00000640739.1:n.6230G>T
ENST00000640910.1:c.721G>T
ENST00000640985.1:c.1196G>T	ENSP00000492293.1:p.Cys399Phe
ENST00000641017.1:c.1352G>T	ENSP00000493461.1:p.Cys451Phe
ENST00000356592.7:c.1283G>T	ENSP00000349000.3:p.Cys428Phe
ENST00000361925.8:c.1259G>T	ENSP00000354651.4:p.Cys420Phe
ENST00000414552.6:c.1403G>T	ENSP00000410732.2:p.Cys468Phe
ENST00000522990.5:c.*861G>T	ENSP00000430732.1:n.*861G>T
ENST00000523372.1:c.1380G>T	ENSP00000430124.1:n.1380G>T
NM_000816.3:c.1259G>T	NP_000807.2:p.Cys420Phe
NM_198903.2:c.1403G>T	NP_944493.2:p.Cys468Phe
NM_198904.2:c.1283G>T	NP_944494.1:p.Cys428Phe
NM_001375339.1:c.1274G>T	NP_001362268.1:p.Cys425Phe
NM_001375340.1:c.*117G>T	NP_001362269.1:n.*117G>T
NM_001375341.1:c.1280G>T	NP_001362270.1:p.Cys427Phe
NM_001375342.1:c.1256G>T	NP_001362271.1:p.Cys419Phe
NM_001375343.1:c.1379G>T	NP_001362272.1:p.Cys460Phe
NM_001375344.1:c.1322G>T	NP_001362273.1:p.Cys441Phe
NM_001375345.1:c.1193G>T	NP_001362274.1:p.Cys398Phe
NM_001375346.1:c.1217G>T	NP_001362275.1:p.Cys406Phe
NM_001375347.1:c.1196G>T	NP_001362276.1:p.Cys399Phe
NM_001375348.1:c.839G>T	NP_001362277.1:p.Cys280Phe
NM_001375349.1:c.974G>T	NP_001362278.1:p.Cys325Phe
NM_001375350.1:c.863G>T	NP_001362279.1:p.Cys288Phe
NM_198904.3:c.1283G>T	NP_944494.1:p.Cys428Phe
NM_198904.4:c.1283G>T MANE Select	NP_944494.1:p.Cys428Phe