Canonical Allele Identifier: CA362183638

Gene: GABRG2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1284G>C
ENST00000361925.9:c.1379G>C	ENSP00000354651.5:p.Cys460Ser
ENST00000523372.2:c.1342G>C
ENST00000638253.1:n.537G>C
ENST00000638552.1:c.974G>C	ENSP00000491763.1:p.Cys325Ser
ENST00000638660.1:c.998G>C	ENSP00000492869.1:p.Cys333Ser
ENST00000638772.1:c.*3880G>C	ENSP00000491557.1:n.*3880G>C
ENST00000638877.1:c.1160G>C
ENST00000639046.1:c.650G>C	ENSP00000492659.1:p.Cys217Ser
ENST00000639111.2:c.1259G>C	ENSP00000492125.2:p.Cys420Ser
ENST00000639213.2:c.1283G>C MANE Select	ENSP00000491909.2:p.Cys428Ser
ENST00000639278.1:c.1946G>C	ENSP00000491958.1:n.1946G>C
ENST00000639384.1:c.*1464G>C	ENSP00000491240.1:n.*1464G>C
ENST00000639424.1:c.*483G>C	ENSP00000491245.1:n.*483G>C
ENST00000639683.1:c.1217G>C	ENSP00000492581.1:p.Cys406Ser
ENST00000639975.1:c.1193G>C	ENSP00000492096.1:p.Cys398Ser
ENST00000640500.1:n.557G>C
ENST00000640739.1:n.6230G>C
ENST00000640910.1:c.721G>C
ENST00000640985.1:c.1196G>C	ENSP00000492293.1:p.Cys399Ser
ENST00000641017.1:c.1352G>C	ENSP00000493461.1:p.Cys451Ser
ENST00000356592.7:c.1283G>C	ENSP00000349000.3:p.Cys428Ser
ENST00000361925.8:c.1259G>C	ENSP00000354651.4:p.Cys420Ser
ENST00000414552.6:c.1403G>C	ENSP00000410732.2:p.Cys468Ser
ENST00000522990.5:c.*861G>C	ENSP00000430732.1:n.*861G>C
ENST00000523372.1:c.1380G>C	ENSP00000430124.1:n.1380G>C
NM_000816.3:c.1259G>C	NP_000807.2:p.Cys420Ser
NM_198903.2:c.1403G>C	NP_944493.2:p.Cys468Ser
NM_198904.2:c.1283G>C	NP_944494.1:p.Cys428Ser
NM_001375339.1:c.1274G>C	NP_001362268.1:p.Cys425Ser
NM_001375340.1:c.*117G>C	NP_001362269.1:n.*117G>C
NM_001375341.1:c.1280G>C	NP_001362270.1:p.Cys427Ser
NM_001375342.1:c.1256G>C	NP_001362271.1:p.Cys419Ser
NM_001375343.1:c.1379G>C	NP_001362272.1:p.Cys460Ser
NM_001375344.1:c.1322G>C	NP_001362273.1:p.Cys441Ser
NM_001375345.1:c.1193G>C	NP_001362274.1:p.Cys398Ser
NM_001375346.1:c.1217G>C	NP_001362275.1:p.Cys406Ser
NM_001375347.1:c.1196G>C	NP_001362276.1:p.Cys399Ser
NM_001375348.1:c.839G>C	NP_001362277.1:p.Cys280Ser
NM_001375349.1:c.974G>C	NP_001362278.1:p.Cys325Ser
NM_001375350.1:c.863G>C	NP_001362279.1:p.Cys288Ser
NM_198904.3:c.1283G>C	NP_944494.1:p.Cys428Ser
NM_198904.4:c.1283G>C MANE Select	NP_944494.1:p.Cys428Ser