Canonical Allele Identifier: CA362183198

Gene: GABRG2

Linked Data

• MyVariant Identifiers: chr5:g.161580110T>G (hg19) ; chr5:g.162153104T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153104T>G , CM000667.2:g.162153104T>G	GRCh38
NC_000005.9:g.161580110T>G , CM000667.1:g.161580110T>G	GRCh37
NC_000005.8:g.161512688T>G	NCBI36
NG_009290.1:g.90463T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000356592.8:c.1165T>G
ENST00000361925.9:c.1260T>G	ENSP00000354651.5:p.Ile420Met
ENST00000523372.2:c.1223T>G
ENST00000638253.1:n.418T>G
ENST00000638552.1:c.855T>G	ENSP00000491763.1:p.Ile285Met
ENST00000638660.1:c.879T>G	ENSP00000492869.1:p.Ile293Met
ENST00000638772.1:c.*3761T>G	ENSP00000491557.1:n.*3761T>G
ENST00000638877.1:c.1041T>G
ENST00000639046.1:c.531T>G	ENSP00000492659.1:p.Ile177Met
ENST00000639111.2:c.1140T>G	ENSP00000492125.2:p.Ile380Met
ENST00000639213.2:c.1164T>G MANE Select	ENSP00000491909.2:p.Ile388Met
ENST00000639278.1:c.1827T>G	ENSP00000491958.1:n.1827T>G
ENST00000639384.1:c.*1345T>G	ENSP00000491240.1:n.*1345T>G
ENST00000639424.1:c.*364T>G	ENSP00000491245.1:n.*364T>G
ENST00000639683.1:c.1098T>G	ENSP00000492581.1:p.Ile366Met
ENST00000639975.1:c.1074T>G	ENSP00000492096.1:p.Ile358Met
ENST00000640500.1:n.438T>G
ENST00000640739.1:n.6111T>G
ENST00000640910.1:c.602T>G
ENST00000640985.1:c.1077T>G	ENSP00000492293.1:p.Ile359Met
ENST00000641017.1:c.1233T>G	ENSP00000493461.1:p.Ile411Met
ENST00000356592.7:c.1164T>G	ENSP00000349000.3:p.Ile388Met
ENST00000361925.8:c.1140T>G	ENSP00000354651.4:p.Ile380Met
ENST00000414552.6:c.1284T>G	ENSP00000410732.2:p.Ile428Met
ENST00000522990.5:c.*742T>G	ENSP00000430732.1:n.*742T>G
ENST00000523372.1:c.1261T>G	ENSP00000430124.1:n.1261T>G
NM_000816.3:c.1140T>G	NP_000807.2:p.Ile380Met
NM_198903.2:c.1284T>G	NP_944493.2:p.Ile428Met
NM_198904.2:c.1164T>G	NP_944494.1:p.Ile388Met
NM_001375339.1:c.1155T>G	NP_001362268.1:p.Ile385Met
NM_001375340.1:c.958T>G	NP_001362269.1:p.Ter320Gly
NM_001375341.1:c.1161T>G	NP_001362270.1:p.Ile387Met
NM_001375342.1:c.1137T>G	NP_001362271.1:p.Ile379Met
NM_001375343.1:c.1260T>G	NP_001362272.1:p.Ile420Met
NM_001375344.1:c.1203T>G	NP_001362273.1:p.Ile401Met
NM_001375345.1:c.1074T>G	NP_001362274.1:p.Ile358Met
NM_001375346.1:c.1098T>G	NP_001362275.1:p.Ile366Met
NM_001375347.1:c.1077T>G	NP_001362276.1:p.Ile359Met
NM_001375348.1:c.720T>G	NP_001362277.1:p.Ile240Met
NM_001375349.1:c.855T>G	NP_001362278.1:p.Ile285Met
NM_001375350.1:c.744T>G	NP_001362279.1:p.Ile248Met
NM_198904.3:c.1164T>G	NP_944494.1:p.Ile388Met
NM_198904.4:c.1164T>G MANE Select	NP_944494.1:p.Ile388Met