Canonical Allele Identifier: CA362183850

Gene: GABRG2

Linked Data

• COSMIC: COSM6170313
• MyVariant Identifiers: chr5:g.161580279C>A (hg19) ; chr5:g.162153273C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153273C>A , CM000667.2:g.162153273C>A	GRCh38
NC_000005.9:g.161580279C>A , CM000667.1:g.161580279C>A	GRCh37
NC_000005.8:g.161512857C>A	NCBI36
NG_009290.1:g.90632C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1334C>A
ENST00000361925.9:c.1429C>A	ENSP00000354651.5:p.Arg477Ser
ENST00000523372.2:c.1392C>A
ENST00000638253.1:n.587C>A
ENST00000638552.1:c.1024C>A	ENSP00000491763.1:p.Arg342Ser
ENST00000638660.1:c.1048C>A	ENSP00000492869.1:p.Arg350Ser
ENST00000638772.1:c.*3930C>A	ENSP00000491557.1:n.*3930C>A
ENST00000638877.1:c.1210C>A
ENST00000639046.1:c.700C>A	ENSP00000492659.1:p.Arg234Ser
ENST00000639111.2:c.1309C>A	ENSP00000492125.2:p.Arg437Ser
ENST00000639213.2:c.1333C>A MANE Select	ENSP00000491909.2:p.Arg445Ser
ENST00000639278.1:c.1996C>A	ENSP00000491958.1:n.1996C>A
ENST00000639384.1:c.*1514C>A	ENSP00000491240.1:n.*1514C>A
ENST00000639424.1:c.*533C>A	ENSP00000491245.1:n.*533C>A
ENST00000639683.1:c.1267C>A	ENSP00000492581.1:p.Arg423Ser
ENST00000639975.1:c.1243C>A	ENSP00000492096.1:p.Arg415Ser
ENST00000640500.1:n.607C>A
ENST00000640739.1:n.6280C>A
ENST00000640910.1:c.771C>A
ENST00000640985.1:c.1246C>A	ENSP00000492293.1:p.Arg416Ser
ENST00000641017.1:c.1402C>A	ENSP00000493461.1:p.Arg468Ser
ENST00000356592.7:c.1333C>A	ENSP00000349000.3:p.Arg445Ser
ENST00000361925.8:c.1309C>A	ENSP00000354651.4:p.Arg437Ser
ENST00000414552.6:c.1453C>A	ENSP00000410732.2:p.Arg485Ser
ENST00000522990.5:c.*911C>A	ENSP00000430732.1:n.*911C>A
ENST00000523372.1:c.1430C>A	ENSP00000430124.1:n.1430C>A
NM_000816.3:c.1309C>A	NP_000807.2:p.Arg437Ser
NM_198903.2:c.1453C>A	NP_944493.2:p.Arg485Ser
NM_198904.2:c.1333C>A	NP_944494.1:p.Arg445Ser
NM_001375339.1:c.1324C>A	NP_001362268.1:p.Arg442Ser
NM_001375340.1:c.*167C>A	NP_001362269.1:n.*167C>A
NM_001375341.1:c.1330C>A	NP_001362270.1:p.Arg444Ser
NM_001375342.1:c.1306C>A	NP_001362271.1:p.Arg436Ser
NM_001375343.1:c.1429C>A	NP_001362272.1:p.Arg477Ser
NM_001375344.1:c.1372C>A	NP_001362273.1:p.Arg458Ser
NM_001375345.1:c.1243C>A	NP_001362274.1:p.Arg415Ser
NM_001375346.1:c.1267C>A	NP_001362275.1:p.Arg423Ser
NM_001375347.1:c.1246C>A	NP_001362276.1:p.Arg416Ser
NM_001375348.1:c.889C>A	NP_001362277.1:p.Arg297Ser
NM_001375349.1:c.1024C>A	NP_001362278.1:p.Arg342Ser
NM_001375350.1:c.913C>A	NP_001362279.1:p.Arg305Ser
NM_198904.3:c.1333C>A	NP_944494.1:p.Arg445Ser
NM_198904.4:c.1333C>A MANE Select	NP_944494.1:p.Arg445Ser