Canonical Allele Identifier: CA362183730

Gene: GABRG2

Linked Data

• MyVariant Identifiers: chr5:g.161580246A>G (hg19) ; chr5:g.162153240A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153240A>G , CM000667.2:g.162153240A>G	GRCh38
NC_000005.9:g.161580246A>G , CM000667.1:g.161580246A>G	GRCh37
NC_000005.8:g.161512824A>G	NCBI36
NG_009290.1:g.90599A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1301A>G
ENST00000361925.9:c.1396A>G	ENSP00000354651.5:p.Thr466Ala
ENST00000523372.2:c.1359A>G
ENST00000638253.1:n.554A>G
ENST00000638552.1:c.991A>G	ENSP00000491763.1:p.Thr331Ala
ENST00000638660.1:c.1015A>G	ENSP00000492869.1:p.Thr339Ala
ENST00000638772.1:c.*3897A>G	ENSP00000491557.1:n.*3897A>G
ENST00000638877.1:c.1177A>G
ENST00000639046.1:c.667A>G	ENSP00000492659.1:p.Thr223Ala
ENST00000639111.2:c.1276A>G	ENSP00000492125.2:p.Thr426Ala
ENST00000639213.2:c.1300A>G MANE Select	ENSP00000491909.2:p.Thr434Ala
ENST00000639278.1:c.1963A>G	ENSP00000491958.1:n.1963A>G
ENST00000639384.1:c.*1481A>G	ENSP00000491240.1:n.*1481A>G
ENST00000639424.1:c.*500A>G	ENSP00000491245.1:n.*500A>G
ENST00000639683.1:c.1234A>G	ENSP00000492581.1:p.Thr412Ala
ENST00000639975.1:c.1210A>G	ENSP00000492096.1:p.Thr404Ala
ENST00000640500.1:n.574A>G
ENST00000640739.1:n.6247A>G
ENST00000640910.1:c.738A>G
ENST00000640985.1:c.1213A>G	ENSP00000492293.1:p.Thr405Ala
ENST00000641017.1:c.1369A>G	ENSP00000493461.1:p.Thr457Ala
ENST00000356592.7:c.1300A>G	ENSP00000349000.3:p.Thr434Ala
ENST00000361925.8:c.1276A>G	ENSP00000354651.4:p.Thr426Ala
ENST00000414552.6:c.1420A>G	ENSP00000410732.2:p.Thr474Ala
ENST00000522990.5:c.*878A>G	ENSP00000430732.1:n.*878A>G
ENST00000523372.1:c.1397A>G	ENSP00000430124.1:n.1397A>G
NM_000816.3:c.1276A>G	NP_000807.2:p.Thr426Ala
NM_198903.2:c.1420A>G	NP_944493.2:p.Thr474Ala
NM_198904.2:c.1300A>G	NP_944494.1:p.Thr434Ala
NM_001375339.1:c.1291A>G	NP_001362268.1:p.Thr431Ala
NM_001375340.1:c.*134A>G	NP_001362269.1:n.*134A>G
NM_001375341.1:c.1297A>G	NP_001362270.1:p.Thr433Ala
NM_001375342.1:c.1273A>G	NP_001362271.1:p.Thr425Ala
NM_001375343.1:c.1396A>G	NP_001362272.1:p.Thr466Ala
NM_001375344.1:c.1339A>G	NP_001362273.1:p.Thr447Ala
NM_001375345.1:c.1210A>G	NP_001362274.1:p.Thr404Ala
NM_001375346.1:c.1234A>G	NP_001362275.1:p.Thr412Ala
NM_001375347.1:c.1213A>G	NP_001362276.1:p.Thr405Ala
NM_001375348.1:c.856A>G	NP_001362277.1:p.Thr286Ala
NM_001375349.1:c.991A>G	NP_001362278.1:p.Thr331Ala
NM_001375350.1:c.880A>G	NP_001362279.1:p.Thr294Ala
NM_198904.3:c.1300A>G	NP_944494.1:p.Thr434Ala
NM_198904.4:c.1300A>G MANE Select	NP_944494.1:p.Thr434Ala