Canonical Allele Identifier: CA362183213

Gene: GABRG2

Linked Data

• MyVariant Identifiers: chr5:g.161580116C>G (hg19) ; chr5:g.162153110C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153110C>G , CM000667.2:g.162153110C>G	GRCh38
NC_000005.9:g.161580116C>G , CM000667.1:g.161580116C>G	GRCh37
NC_000005.8:g.161512694C>G	NCBI36
NG_009290.1:g.90469C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000356592.8:c.1171C>G
ENST00000361925.9:c.1266C>G	ENSP00000354651.5:p.Ile422Met
ENST00000523372.2:c.1229C>G
ENST00000638253.1:n.424C>G
ENST00000638552.1:c.861C>G	ENSP00000491763.1:p.Ile287Met
ENST00000638660.1:c.885C>G	ENSP00000492869.1:p.Ile295Met
ENST00000638772.1:c.*3767C>G	ENSP00000491557.1:n.*3767C>G
ENST00000638877.1:c.1047C>G
ENST00000639046.1:c.537C>G	ENSP00000492659.1:p.Ile179Met
ENST00000639111.2:c.1146C>G	ENSP00000492125.2:p.Ile382Met
ENST00000639213.2:c.1170C>G MANE Select	ENSP00000491909.2:p.Ile390Met
ENST00000639278.1:c.1833C>G	ENSP00000491958.1:n.1833C>G
ENST00000639384.1:c.*1351C>G	ENSP00000491240.1:n.*1351C>G
ENST00000639424.1:c.*370C>G	ENSP00000491245.1:n.*370C>G
ENST00000639683.1:c.1104C>G	ENSP00000492581.1:p.Ile368Met
ENST00000639975.1:c.1080C>G	ENSP00000492096.1:p.Ile360Met
ENST00000640500.1:n.444C>G
ENST00000640739.1:n.6117C>G
ENST00000640910.1:c.608C>G
ENST00000640985.1:c.1083C>G	ENSP00000492293.1:p.Ile361Met
ENST00000641017.1:c.1239C>G	ENSP00000493461.1:p.Ile413Met
ENST00000356592.7:c.1170C>G	ENSP00000349000.3:p.Ile390Met
ENST00000361925.8:c.1146C>G	ENSP00000354651.4:p.Ile382Met
ENST00000414552.6:c.1290C>G	ENSP00000410732.2:p.Ile430Met
ENST00000522990.5:c.*748C>G	ENSP00000430732.1:n.*748C>G
ENST00000523372.1:c.1267C>G	ENSP00000430124.1:n.1267C>G
NM_000816.3:c.1146C>G	NP_000807.2:p.Ile382Met
NM_198903.2:c.1290C>G	NP_944493.2:p.Ile430Met
NM_198904.2:c.1170C>G	NP_944494.1:p.Ile390Met
NM_001375339.1:c.1161C>G	NP_001362268.1:p.Ile387Met
NM_001375340.1:c.*4C>G	NP_001362269.1:n.*4C>G
NM_001375341.1:c.1167C>G	NP_001362270.1:p.Ile389Met
NM_001375342.1:c.1143C>G	NP_001362271.1:p.Ile381Met
NM_001375343.1:c.1266C>G	NP_001362272.1:p.Ile422Met
NM_001375344.1:c.1209C>G	NP_001362273.1:p.Ile403Met
NM_001375345.1:c.1080C>G	NP_001362274.1:p.Ile360Met
NM_001375346.1:c.1104C>G	NP_001362275.1:p.Ile368Met
NM_001375347.1:c.1083C>G	NP_001362276.1:p.Ile361Met
NM_001375348.1:c.726C>G	NP_001362277.1:p.Ile242Met
NM_001375349.1:c.861C>G	NP_001362278.1:p.Ile287Met
NM_001375350.1:c.750C>G	NP_001362279.1:p.Ile250Met
NM_198904.3:c.1170C>G	NP_944494.1:p.Ile390Met
NM_198904.4:c.1170C>G MANE Select	NP_944494.1:p.Ile390Met