Canonical Allele Identifier: CA362183212

Gene: GABRG2

Linked Data

• MyVariant Identifiers: chr5:g.161580115T>G (hg19) ; chr5:g.162153109T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153109T>G , CM000667.2:g.162153109T>G	GRCh38
NC_000005.9:g.161580115T>G , CM000667.1:g.161580115T>G	GRCh37
NC_000005.8:g.161512693T>G	NCBI36
NG_009290.1:g.90468T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000356592.8:c.1170T>G
ENST00000361925.9:c.1265T>G	ENSP00000354651.5:p.Ile422Ser
ENST00000523372.2:c.1228T>G
ENST00000638253.1:n.423T>G
ENST00000638552.1:c.860T>G	ENSP00000491763.1:p.Ile287Ser
ENST00000638660.1:c.884T>G	ENSP00000492869.1:p.Ile295Ser
ENST00000638772.1:c.*3766T>G	ENSP00000491557.1:n.*3766T>G
ENST00000638877.1:c.1046T>G
ENST00000639046.1:c.536T>G	ENSP00000492659.1:p.Ile179Ser
ENST00000639111.2:c.1145T>G	ENSP00000492125.2:p.Ile382Ser
ENST00000639213.2:c.1169T>G MANE Select	ENSP00000491909.2:p.Ile390Ser
ENST00000639278.1:c.1832T>G	ENSP00000491958.1:n.1832T>G
ENST00000639384.1:c.*1350T>G	ENSP00000491240.1:n.*1350T>G
ENST00000639424.1:c.*369T>G	ENSP00000491245.1:n.*369T>G
ENST00000639683.1:c.1103T>G	ENSP00000492581.1:p.Ile368Ser
ENST00000639975.1:c.1079T>G	ENSP00000492096.1:p.Ile360Ser
ENST00000640500.1:n.443T>G
ENST00000640739.1:n.6116T>G
ENST00000640910.1:c.607T>G
ENST00000640985.1:c.1082T>G	ENSP00000492293.1:p.Ile361Ser
ENST00000641017.1:c.1238T>G	ENSP00000493461.1:p.Ile413Ser
ENST00000356592.7:c.1169T>G	ENSP00000349000.3:p.Ile390Ser
ENST00000361925.8:c.1145T>G	ENSP00000354651.4:p.Ile382Ser
ENST00000414552.6:c.1289T>G	ENSP00000410732.2:p.Ile430Ser
ENST00000522990.5:c.*747T>G	ENSP00000430732.1:n.*747T>G
ENST00000523372.1:c.1266T>G	ENSP00000430124.1:n.1266T>G
NM_000816.3:c.1145T>G	NP_000807.2:p.Ile382Ser
NM_198903.2:c.1289T>G	NP_944493.2:p.Ile430Ser
NM_198904.2:c.1169T>G	NP_944494.1:p.Ile390Ser
NM_001375339.1:c.1160T>G	NP_001362268.1:p.Ile387Ser
NM_001375340.1:c.*3T>G	NP_001362269.1:n.*3T>G
NM_001375341.1:c.1166T>G	NP_001362270.1:p.Ile389Ser
NM_001375342.1:c.1142T>G	NP_001362271.1:p.Ile381Ser
NM_001375343.1:c.1265T>G	NP_001362272.1:p.Ile422Ser
NM_001375344.1:c.1208T>G	NP_001362273.1:p.Ile403Ser
NM_001375345.1:c.1079T>G	NP_001362274.1:p.Ile360Ser
NM_001375346.1:c.1103T>G	NP_001362275.1:p.Ile368Ser
NM_001375347.1:c.1082T>G	NP_001362276.1:p.Ile361Ser
NM_001375348.1:c.725T>G	NP_001362277.1:p.Ile242Ser
NM_001375349.1:c.860T>G	NP_001362278.1:p.Ile287Ser
NM_001375350.1:c.749T>G	NP_001362279.1:p.Ile250Ser
NM_198904.3:c.1169T>G	NP_944494.1:p.Ile390Ser
NM_198904.4:c.1169T>G MANE Select	NP_944494.1:p.Ile390Ser