Canonical Allele Identifier: CA362183214

Gene: GABRG2

Linked Data

• COSMIC: COSM3247974
• MyVariant Identifiers: chr5:g.161580117C>A (hg19) ; chr5:g.162153111C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153111C>A , CM000667.2:g.162153111C>A	GRCh38
NC_000005.9:g.161580117C>A , CM000667.1:g.161580117C>A	GRCh37
NC_000005.8:g.161512695C>A	NCBI36
NG_009290.1:g.90470C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000356592.8:c.1172C>A
ENST00000361925.9:c.1267C>A	ENSP00000354651.5:p.Arg423Ser
ENST00000523372.2:c.1230C>A
ENST00000638253.1:n.425C>A
ENST00000638552.1:c.862C>A	ENSP00000491763.1:p.Arg288Ser
ENST00000638660.1:c.886C>A	ENSP00000492869.1:p.Arg296Ser
ENST00000638772.1:c.*3768C>A	ENSP00000491557.1:n.*3768C>A
ENST00000638877.1:c.1048C>A
ENST00000639046.1:c.538C>A	ENSP00000492659.1:p.Arg180Ser
ENST00000639111.2:c.1147C>A	ENSP00000492125.2:p.Arg383Ser
ENST00000639213.2:c.1171C>A MANE Select	ENSP00000491909.2:p.Arg391Ser
ENST00000639278.1:c.1834C>A	ENSP00000491958.1:n.1834C>A
ENST00000639384.1:c.*1352C>A	ENSP00000491240.1:n.*1352C>A
ENST00000639424.1:c.*371C>A	ENSP00000491245.1:n.*371C>A
ENST00000639683.1:c.1105C>A	ENSP00000492581.1:p.Arg369Ser
ENST00000639975.1:c.1081C>A	ENSP00000492096.1:p.Arg361Ser
ENST00000640500.1:n.445C>A
ENST00000640739.1:n.6118C>A
ENST00000640910.1:c.609C>A
ENST00000640985.1:c.1084C>A	ENSP00000492293.1:p.Arg362Ser
ENST00000641017.1:c.1240C>A	ENSP00000493461.1:p.Arg414Ser
ENST00000356592.7:c.1171C>A	ENSP00000349000.3:p.Arg391Ser
ENST00000361925.8:c.1147C>A	ENSP00000354651.4:p.Arg383Ser
ENST00000414552.6:c.1291C>A	ENSP00000410732.2:p.Arg431Ser
ENST00000522990.5:c.*749C>A	ENSP00000430732.1:n.*749C>A
ENST00000523372.1:c.1268C>A	ENSP00000430124.1:n.1268C>A
NM_000816.3:c.1147C>A	NP_000807.2:p.Arg383Ser
NM_198903.2:c.1291C>A	NP_944493.2:p.Arg431Ser
NM_198904.2:c.1171C>A	NP_944494.1:p.Arg391Ser
NM_001375339.1:c.1162C>A	NP_001362268.1:p.Arg388Ser
NM_001375340.1:c.*5C>A	NP_001362269.1:n.*5C>A
NM_001375341.1:c.1168C>A	NP_001362270.1:p.Arg390Ser
NM_001375342.1:c.1144C>A	NP_001362271.1:p.Arg382Ser
NM_001375343.1:c.1267C>A	NP_001362272.1:p.Arg423Ser
NM_001375344.1:c.1210C>A	NP_001362273.1:p.Arg404Ser
NM_001375345.1:c.1081C>A	NP_001362274.1:p.Arg361Ser
NM_001375346.1:c.1105C>A	NP_001362275.1:p.Arg369Ser
NM_001375347.1:c.1084C>A	NP_001362276.1:p.Arg362Ser
NM_001375348.1:c.727C>A	NP_001362277.1:p.Arg243Ser
NM_001375349.1:c.862C>A	NP_001362278.1:p.Arg288Ser
NM_001375350.1:c.751C>A	NP_001362279.1:p.Arg251Ser
NM_198904.3:c.1171C>A	NP_944494.1:p.Arg391Ser
NM_198904.4:c.1171C>A MANE Select	NP_944494.1:p.Arg391Ser