Canonical Allele Identifier: CA362183936

Gene: GABRG2

Linked Data

• COSMIC: COSM5627555
• MyVariant Identifiers: chr5:g.161580298C>G (hg19) ; chr5:g.162153292C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153292C>G , CM000667.2:g.162153292C>G	GRCh38
NC_000005.9:g.161580298C>G , CM000667.1:g.161580298C>G	GRCh37
NC_000005.8:g.161512876C>G	NCBI36
NG_009290.1:g.90651C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1353C>G
ENST00000361925.9:c.1448C>G	ENSP00000354651.5:p.Ser483Cys
ENST00000523372.2:c.1411C>G
ENST00000638253.1:n.606C>G
ENST00000638552.1:c.1043C>G	ENSP00000491763.1:p.Ser348Cys
ENST00000638660.1:c.1067C>G	ENSP00000492869.1:p.Ser356Cys
ENST00000638772.1:c.*3949C>G	ENSP00000491557.1:n.*3949C>G
ENST00000638877.1:c.1229C>G
ENST00000639046.1:c.719C>G	ENSP00000492659.1:p.Ser240Cys
ENST00000639111.2:c.1328C>G	ENSP00000492125.2:p.Ser443Cys
ENST00000639213.2:c.1352C>G MANE Select	ENSP00000491909.2:p.Ser451Cys
ENST00000639278.1:c.2015C>G	ENSP00000491958.1:n.2015C>G
ENST00000639384.1:c.*1533C>G	ENSP00000491240.1:n.*1533C>G
ENST00000639424.1:c.*552C>G	ENSP00000491245.1:n.*552C>G
ENST00000639683.1:c.1286C>G	ENSP00000492581.1:p.Ser429Cys
ENST00000639975.1:c.1262C>G	ENSP00000492096.1:p.Ser421Cys
ENST00000640500.1:n.626C>G
ENST00000640739.1:n.6299C>G
ENST00000640910.1:c.790C>G
ENST00000640985.1:c.1265C>G	ENSP00000492293.1:p.Ser422Cys
ENST00000641017.1:c.1421C>G	ENSP00000493461.1:p.Ser474Cys
ENST00000356592.7:c.1352C>G	ENSP00000349000.3:p.Ser451Cys
ENST00000361925.8:c.1328C>G	ENSP00000354651.4:p.Ser443Cys
ENST00000414552.6:c.1472C>G	ENSP00000410732.2:p.Ser491Cys
ENST00000522990.5:c.*930C>G	ENSP00000430732.1:n.*930C>G
ENST00000523372.1:c.1449C>G	ENSP00000430124.1:n.1449C>G
NM_000816.3:c.1328C>G	NP_000807.2:p.Ser443Cys
NM_198903.2:c.1472C>G	NP_944493.2:p.Ser491Cys
NM_198904.2:c.1352C>G	NP_944494.1:p.Ser451Cys
NM_001375339.1:c.1343C>G	NP_001362268.1:p.Ser448Cys
NM_001375340.1:c.*186C>G	NP_001362269.1:n.*186C>G
NM_001375341.1:c.1349C>G	NP_001362270.1:p.Ser450Cys
NM_001375342.1:c.1325C>G	NP_001362271.1:p.Ser442Cys
NM_001375343.1:c.1448C>G	NP_001362272.1:p.Ser483Cys
NM_001375344.1:c.1391C>G	NP_001362273.1:p.Ser464Cys
NM_001375345.1:c.1262C>G	NP_001362274.1:p.Ser421Cys
NM_001375346.1:c.1286C>G	NP_001362275.1:p.Ser429Cys
NM_001375347.1:c.1265C>G	NP_001362276.1:p.Ser422Cys
NM_001375348.1:c.908C>G	NP_001362277.1:p.Ser303Cys
NM_001375349.1:c.1043C>G	NP_001362278.1:p.Ser348Cys
NM_001375350.1:c.932C>G	NP_001362279.1:p.Ser311Cys
NM_198904.3:c.1352C>G	NP_944494.1:p.Ser451Cys
NM_198904.4:c.1352C>G MANE Select	NP_944494.1:p.Ser451Cys