Canonical Allele Identifier: CA3544990

Gene: GABRG2

Linked Data

• dbSNP Id: rs772194057
• ExAC: 5:161580262 A / T
• gnomAD v2: 5-161580262-A-T
• MyVariant Identifiers: chr5:g.161580262A>T (hg19) ; chr5:g.162153256A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153256A>T , CM000667.2:g.162153256A>T	GRCh38
NC_000005.9:g.161580262A>T , CM000667.1:g.161580262A>T	GRCh37
NC_000005.8:g.161512840A>T	NCBI36
NG_009290.1:g.90615A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1317A>T
ENST00000361925.9:c.1412A>T	ENSP00000354651.5:p.His471Leu
ENST00000523372.2:c.1375A>T
ENST00000638253.1:n.570A>T
ENST00000638552.1:c.1007A>T	ENSP00000491763.1:p.His336Leu
ENST00000638660.1:c.1031A>T	ENSP00000492869.1:p.His344Leu
ENST00000638772.1:c.*3913A>T	ENSP00000491557.1:n.*3913A>T
ENST00000638877.1:c.1193A>T
ENST00000639046.1:c.683A>T	ENSP00000492659.1:p.His228Leu
ENST00000639111.2:c.1292A>T	ENSP00000492125.2:p.His431Leu
ENST00000639213.2:c.1316A>T MANE Select	ENSP00000491909.2:p.His439Leu
ENST00000639278.1:c.1979A>T	ENSP00000491958.1:n.1979A>T
ENST00000639384.1:c.*1497A>T	ENSP00000491240.1:n.*1497A>T
ENST00000639424.1:c.*516A>T	ENSP00000491245.1:n.*516A>T
ENST00000639683.1:c.1250A>T	ENSP00000492581.1:p.His417Leu
ENST00000639975.1:c.1226A>T	ENSP00000492096.1:p.His409Leu
ENST00000640500.1:n.590A>T
ENST00000640739.1:n.6263A>T
ENST00000640910.1:c.754A>T
ENST00000640985.1:c.1229A>T	ENSP00000492293.1:p.His410Leu
ENST00000641017.1:c.1385A>T	ENSP00000493461.1:p.His462Leu
ENST00000356592.7:c.1316A>T	ENSP00000349000.3:p.His439Leu
ENST00000361925.8:c.1292A>T	ENSP00000354651.4:p.His431Leu
ENST00000414552.6:c.1436A>T	ENSP00000410732.2:p.His479Leu
ENST00000522990.5:c.*894A>T	ENSP00000430732.1:n.*894A>T
ENST00000523372.1:c.1413A>T	ENSP00000430124.1:n.1413A>T
NM_000816.3:c.1292A>T	NP_000807.2:p.His431Leu
NM_198903.2:c.1436A>T	NP_944493.2:p.His479Leu
NM_198904.2:c.1316A>T	NP_944494.1:p.His439Leu
NM_001375339.1:c.1307A>T	NP_001362268.1:p.His436Leu
NM_001375340.1:c.*150A>T	NP_001362269.1:n.*150A>T
NM_001375341.1:c.1313A>T	NP_001362270.1:p.His438Leu
NM_001375342.1:c.1289A>T	NP_001362271.1:p.His430Leu
NM_001375343.1:c.1412A>T	NP_001362272.1:p.His471Leu
NM_001375344.1:c.1355A>T	NP_001362273.1:p.His452Leu
NM_001375345.1:c.1226A>T	NP_001362274.1:p.His409Leu
NM_001375346.1:c.1250A>T	NP_001362275.1:p.His417Leu
NM_001375347.1:c.1229A>T	NP_001362276.1:p.His410Leu
NM_001375348.1:c.872A>T	NP_001362277.1:p.His291Leu
NM_001375349.1:c.1007A>T	NP_001362278.1:p.His336Leu
NM_001375350.1:c.896A>T	NP_001362279.1:p.His299Leu
NM_198904.3:c.1316A>T	NP_944494.1:p.His439Leu
NM_198904.4:c.1316A>T MANE Select	NP_944494.1:p.His439Leu