Canonical Allele Identifier: CA362183853

Gene: GABRG2

Linked Data

• ClinVar Variation Id: 1376592
• ClinVar RCV Id: RCV001886009
• dbSNP Id: rs1561662358
• gnomAD v4: 5-162153273-C-T
• MyVariant Identifiers: chr5:g.161580279C>T (hg19) ; chr5:g.162153273C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1334C>T
ENST00000361925.9:c.1429C>T	ENSP00000354651.5:p.Arg477Cys
ENST00000523372.2:c.1392C>T
ENST00000638253.1:n.587C>T
ENST00000638552.1:c.1024C>T	ENSP00000491763.1:p.Arg342Cys
ENST00000638660.1:c.1048C>T	ENSP00000492869.1:p.Arg350Cys
ENST00000638772.1:c.*3930C>T	ENSP00000491557.1:n.*3930C>T
ENST00000638877.1:c.1210C>T
ENST00000639046.1:c.700C>T	ENSP00000492659.1:p.Arg234Cys
ENST00000639111.2:c.1309C>T	ENSP00000492125.2:p.Arg437Cys
ENST00000639213.2:c.1333C>T MANE Select	ENSP00000491909.2:p.Arg445Cys
ENST00000639278.1:c.1996C>T	ENSP00000491958.1:n.1996C>T
ENST00000639384.1:c.*1514C>T	ENSP00000491240.1:n.*1514C>T
ENST00000639424.1:c.*533C>T	ENSP00000491245.1:n.*533C>T
ENST00000639683.1:c.1267C>T	ENSP00000492581.1:p.Arg423Cys
ENST00000639975.1:c.1243C>T	ENSP00000492096.1:p.Arg415Cys
ENST00000640500.1:n.607C>T
ENST00000640739.1:n.6280C>T
ENST00000640910.1:c.771C>T
ENST00000640985.1:c.1246C>T	ENSP00000492293.1:p.Arg416Cys
ENST00000641017.1:c.1402C>T	ENSP00000493461.1:p.Arg468Cys
ENST00000356592.7:c.1333C>T	ENSP00000349000.3:p.Arg445Cys
ENST00000361925.8:c.1309C>T	ENSP00000354651.4:p.Arg437Cys
ENST00000414552.6:c.1453C>T	ENSP00000410732.2:p.Arg485Cys
ENST00000522990.5:c.*911C>T	ENSP00000430732.1:n.*911C>T
ENST00000523372.1:c.1430C>T	ENSP00000430124.1:n.1430C>T
NM_000816.3:c.1309C>T	NP_000807.2:p.Arg437Cys
NM_198903.2:c.1453C>T	NP_944493.2:p.Arg485Cys
NM_198904.2:c.1333C>T	NP_944494.1:p.Arg445Cys
NM_001375339.1:c.1324C>T	NP_001362268.1:p.Arg442Cys
NM_001375340.1:c.*167C>T	NP_001362269.1:n.*167C>T
NM_001375341.1:c.1330C>T	NP_001362270.1:p.Arg444Cys
NM_001375342.1:c.1306C>T	NP_001362271.1:p.Arg436Cys
NM_001375343.1:c.1429C>T	NP_001362272.1:p.Arg477Cys
NM_001375344.1:c.1372C>T	NP_001362273.1:p.Arg458Cys
NM_001375345.1:c.1243C>T	NP_001362274.1:p.Arg415Cys
NM_001375346.1:c.1267C>T	NP_001362275.1:p.Arg423Cys
NM_001375347.1:c.1246C>T	NP_001362276.1:p.Arg416Cys
NM_001375348.1:c.889C>T	NP_001362277.1:p.Arg297Cys
NM_001375349.1:c.1024C>T	NP_001362278.1:p.Arg342Cys
NM_001375350.1:c.913C>T	NP_001362279.1:p.Arg305Cys
NM_198904.3:c.1333C>T	NP_944494.1:p.Arg445Cys
NM_198904.4:c.1333C>T MANE Select	NP_944494.1:p.Arg445Cys