Canonical Allele Identifier: CA362183207

Gene: GABRG2

Linked Data

• MyVariant Identifiers: chr5:g.161580114A>C (hg19) ; chr5:g.162153108A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153108A>C , CM000667.2:g.162153108A>C	GRCh38
NC_000005.9:g.161580114A>C , CM000667.1:g.161580114A>C	GRCh37
NC_000005.8:g.161512692A>C	NCBI36
NG_009290.1:g.90467A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000356592.8:c.1169A>C
ENST00000361925.9:c.1264A>C	ENSP00000354651.5:p.Ile422Leu
ENST00000523372.2:c.1227A>C
ENST00000638253.1:n.422A>C
ENST00000638552.1:c.859A>C	ENSP00000491763.1:p.Ile287Leu
ENST00000638660.1:c.883A>C	ENSP00000492869.1:p.Ile295Leu
ENST00000638772.1:c.*3765A>C	ENSP00000491557.1:n.*3765A>C
ENST00000638877.1:c.1045A>C
ENST00000639046.1:c.535A>C	ENSP00000492659.1:p.Ile179Leu
ENST00000639111.2:c.1144A>C	ENSP00000492125.2:p.Ile382Leu
ENST00000639213.2:c.1168A>C MANE Select	ENSP00000491909.2:p.Ile390Leu
ENST00000639278.1:c.1831A>C	ENSP00000491958.1:n.1831A>C
ENST00000639384.1:c.*1349A>C	ENSP00000491240.1:n.*1349A>C
ENST00000639424.1:c.*368A>C	ENSP00000491245.1:n.*368A>C
ENST00000639683.1:c.1102A>C	ENSP00000492581.1:p.Ile368Leu
ENST00000639975.1:c.1078A>C	ENSP00000492096.1:p.Ile360Leu
ENST00000640500.1:n.442A>C
ENST00000640739.1:n.6115A>C
ENST00000640910.1:c.606A>C
ENST00000640985.1:c.1081A>C	ENSP00000492293.1:p.Ile361Leu
ENST00000641017.1:c.1237A>C	ENSP00000493461.1:p.Ile413Leu
ENST00000356592.7:c.1168A>C	ENSP00000349000.3:p.Ile390Leu
ENST00000361925.8:c.1144A>C	ENSP00000354651.4:p.Ile382Leu
ENST00000414552.6:c.1288A>C	ENSP00000410732.2:p.Ile430Leu
ENST00000522990.5:c.*746A>C	ENSP00000430732.1:n.*746A>C
ENST00000523372.1:c.1265A>C	ENSP00000430124.1:n.1265A>C
NM_000816.3:c.1144A>C	NP_000807.2:p.Ile382Leu
NM_198903.2:c.1288A>C	NP_944493.2:p.Ile430Leu
NM_198904.2:c.1168A>C	NP_944494.1:p.Ile390Leu
NM_001375339.1:c.1159A>C	NP_001362268.1:p.Ile387Leu
NM_001375340.1:c.*2A>C	NP_001362269.1:n.*2A>C
NM_001375341.1:c.1165A>C	NP_001362270.1:p.Ile389Leu
NM_001375342.1:c.1141A>C	NP_001362271.1:p.Ile381Leu
NM_001375343.1:c.1264A>C	NP_001362272.1:p.Ile422Leu
NM_001375344.1:c.1207A>C	NP_001362273.1:p.Ile403Leu
NM_001375345.1:c.1078A>C	NP_001362274.1:p.Ile360Leu
NM_001375346.1:c.1102A>C	NP_001362275.1:p.Ile368Leu
NM_001375347.1:c.1081A>C	NP_001362276.1:p.Ile361Leu
NM_001375348.1:c.724A>C	NP_001362277.1:p.Ile242Leu
NM_001375349.1:c.859A>C	NP_001362278.1:p.Ile287Leu
NM_001375350.1:c.748A>C	NP_001362279.1:p.Ile250Leu
NM_198904.3:c.1168A>C	NP_944494.1:p.Ile390Leu
NM_198904.4:c.1168A>C MANE Select	NP_944494.1:p.Ile390Leu