Canonical Allele Identifier: CA362183193

Gene: GABRG2

Linked Data

• MyVariant Identifiers: chr5:g.161580108A>G (hg19) ; chr5:g.162153102A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153102A>G , CM000667.2:g.162153102A>G	GRCh38
NC_000005.9:g.161580108A>G , CM000667.1:g.161580108A>G	GRCh37
NC_000005.8:g.161512686A>G	NCBI36
NG_009290.1:g.90461A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000356592.8:c.1163A>G
ENST00000361925.9:c.1258A>G	ENSP00000354651.5:p.Ile420Val
ENST00000523372.2:c.1221A>G
ENST00000638253.1:n.416A>G
ENST00000638552.1:c.853A>G	ENSP00000491763.1:p.Ile285Val
ENST00000638660.1:c.877A>G	ENSP00000492869.1:p.Ile293Val
ENST00000638772.1:c.*3759A>G	ENSP00000491557.1:n.*3759A>G
ENST00000638877.1:c.1039A>G
ENST00000639046.1:c.529A>G	ENSP00000492659.1:p.Ile177Val
ENST00000639111.2:c.1138A>G	ENSP00000492125.2:p.Ile380Val
ENST00000639213.2:c.1162A>G MANE Select	ENSP00000491909.2:p.Ile388Val
ENST00000639278.1:c.1825A>G	ENSP00000491958.1:n.1825A>G
ENST00000639384.1:c.*1343A>G	ENSP00000491240.1:n.*1343A>G
ENST00000639424.1:c.*362A>G	ENSP00000491245.1:n.*362A>G
ENST00000639683.1:c.1096A>G	ENSP00000492581.1:p.Ile366Val
ENST00000639975.1:c.1072A>G	ENSP00000492096.1:p.Ile358Val
ENST00000640500.1:n.436A>G
ENST00000640739.1:n.6109A>G
ENST00000640910.1:c.600A>G
ENST00000640985.1:c.1075A>G	ENSP00000492293.1:p.Ile359Val
ENST00000641017.1:c.1231A>G	ENSP00000493461.1:p.Ile411Val
ENST00000356592.7:c.1162A>G	ENSP00000349000.3:p.Ile388Val
ENST00000361925.8:c.1138A>G	ENSP00000354651.4:p.Ile380Val
ENST00000414552.6:c.1282A>G	ENSP00000410732.2:p.Ile428Val
ENST00000522990.5:c.*740A>G	ENSP00000430732.1:n.*740A>G
ENST00000523372.1:c.1259A>G	ENSP00000430124.1:n.1259A>G
NM_000816.3:c.1138A>G	NP_000807.2:p.Ile380Val
NM_198903.2:c.1282A>G	NP_944493.2:p.Ile428Val
NM_198904.2:c.1162A>G	NP_944494.1:p.Ile388Val
NM_001375339.1:c.1153A>G	NP_001362268.1:p.Ile385Val
NM_001375340.1:c.956A>G	NP_001362269.1:p.His319Arg
NM_001375341.1:c.1159A>G	NP_001362270.1:p.Ile387Val
NM_001375342.1:c.1135A>G	NP_001362271.1:p.Ile379Val
NM_001375343.1:c.1258A>G	NP_001362272.1:p.Ile420Val
NM_001375344.1:c.1201A>G	NP_001362273.1:p.Ile401Val
NM_001375345.1:c.1072A>G	NP_001362274.1:p.Ile358Val
NM_001375346.1:c.1096A>G	NP_001362275.1:p.Ile366Val
NM_001375347.1:c.1075A>G	NP_001362276.1:p.Ile359Val
NM_001375348.1:c.718A>G	NP_001362277.1:p.Ile240Val
NM_001375349.1:c.853A>G	NP_001362278.1:p.Ile285Val
NM_001375350.1:c.742A>G	NP_001362279.1:p.Ile248Val
NM_198904.3:c.1162A>G	NP_944494.1:p.Ile388Val
NM_198904.4:c.1162A>G MANE Select	NP_944494.1:p.Ile388Val