Canonical Allele Identifier: CA362183622

Gene: GABRG2

Linked Data

• MyVariant Identifiers: chr5:g.161580223T>G (hg19) ; chr5:g.162153217T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153217T>G , CM000667.2:g.162153217T>G	GRCh38
NC_000005.9:g.161580223T>G , CM000667.1:g.161580223T>G	GRCh37
NC_000005.8:g.161512801T>G	NCBI36
NG_009290.1:g.90576T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1278T>G
ENST00000361925.9:c.1373T>G	ENSP00000354651.5:p.Phe458Cys
ENST00000523372.2:c.1336T>G
ENST00000638253.1:n.531T>G
ENST00000638552.1:c.968T>G	ENSP00000491763.1:p.Phe323Cys
ENST00000638660.1:c.992T>G	ENSP00000492869.1:p.Phe331Cys
ENST00000638772.1:c.*3874T>G	ENSP00000491557.1:n.*3874T>G
ENST00000638877.1:c.1154T>G
ENST00000639046.1:c.644T>G	ENSP00000492659.1:p.Phe215Cys
ENST00000639111.2:c.1253T>G	ENSP00000492125.2:p.Phe418Cys
ENST00000639213.2:c.1277T>G MANE Select	ENSP00000491909.2:p.Phe426Cys
ENST00000639278.1:c.1940T>G	ENSP00000491958.1:n.1940T>G
ENST00000639384.1:c.*1458T>G	ENSP00000491240.1:n.*1458T>G
ENST00000639424.1:c.*477T>G	ENSP00000491245.1:n.*477T>G
ENST00000639683.1:c.1211T>G	ENSP00000492581.1:p.Phe404Cys
ENST00000639975.1:c.1187T>G	ENSP00000492096.1:p.Phe396Cys
ENST00000640500.1:n.551T>G
ENST00000640739.1:n.6224T>G
ENST00000640910.1:c.715T>G
ENST00000640985.1:c.1190T>G	ENSP00000492293.1:p.Phe397Cys
ENST00000641017.1:c.1346T>G	ENSP00000493461.1:p.Phe449Cys
ENST00000356592.7:c.1277T>G	ENSP00000349000.3:p.Phe426Cys
ENST00000361925.8:c.1253T>G	ENSP00000354651.4:p.Phe418Cys
ENST00000414552.6:c.1397T>G	ENSP00000410732.2:p.Phe466Cys
ENST00000522990.5:c.*855T>G	ENSP00000430732.1:n.*855T>G
ENST00000523372.1:c.1374T>G	ENSP00000430124.1:n.1374T>G
NM_000816.3:c.1253T>G	NP_000807.2:p.Phe418Cys
NM_198903.2:c.1397T>G	NP_944493.2:p.Phe466Cys
NM_198904.2:c.1277T>G	NP_944494.1:p.Phe426Cys
NM_001375339.1:c.1268T>G	NP_001362268.1:p.Phe423Cys
NM_001375340.1:c.*111T>G	NP_001362269.1:n.*111T>G
NM_001375341.1:c.1274T>G	NP_001362270.1:p.Phe425Cys
NM_001375342.1:c.1250T>G	NP_001362271.1:p.Phe417Cys
NM_001375343.1:c.1373T>G	NP_001362272.1:p.Phe458Cys
NM_001375344.1:c.1316T>G	NP_001362273.1:p.Phe439Cys
NM_001375345.1:c.1187T>G	NP_001362274.1:p.Phe396Cys
NM_001375346.1:c.1211T>G	NP_001362275.1:p.Phe404Cys
NM_001375347.1:c.1190T>G	NP_001362276.1:p.Phe397Cys
NM_001375348.1:c.833T>G	NP_001362277.1:p.Phe278Cys
NM_001375349.1:c.968T>G	NP_001362278.1:p.Phe323Cys
NM_001375350.1:c.857T>G	NP_001362279.1:p.Phe286Cys
NM_198904.3:c.1277T>G	NP_944494.1:p.Phe426Cys
NM_198904.4:c.1277T>G MANE Select	NP_944494.1:p.Phe426Cys