Canonical Allele Identifier: CA362182654

Gene: GABRG2

Linked Data

• MyVariant Identifiers: chr5:g.161576281A>C (hg19) ; chr5:g.162149275A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162149275A>C , CM000667.2:g.162149275A>C	GRCh38
NC_000005.9:g.161576281A>C , CM000667.1:g.161576281A>C	GRCh37
NC_000005.8:g.161508859A>C	NCBI36
NG_009290.1:g.86634A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1091A>C
ENST00000361925.9:c.1210A>C	ENSP00000354651.5:p.Lys404Gln
ENST00000523372.2:c.1173A>C
ENST00000638253.1:n.344A>C
ENST00000638552.1:c.805A>C	ENSP00000491763.1:p.Lys269Gln
ENST00000638660.1:c.805A>C	ENSP00000492869.1:p.Lys269Gln
ENST00000638772.1:c.1090A>C	ENSP00000491557.1:p.Lys364Gln
ENST00000638877.1:c.967A>C
ENST00000639046.1:c.481A>C	ENSP00000492659.1:p.Lys161Gln
ENST00000639111.2:c.1090A>C	ENSP00000492125.2:p.Lys364Gln
ENST00000639213.2:c.1090A>C MANE Select	ENSP00000491909.2:p.Lys364Gln
ENST00000639278.1:c.1018A>C	ENSP00000491958.1:p.Lys340Gln
ENST00000639384.1:c.1090A>C	ENSP00000491240.1:p.Lys364Gln
ENST00000639424.1:c.*290A>C	ENSP00000491245.1:n.*290A>C
ENST00000639683.1:c.1024A>C	ENSP00000492581.1:p.Lys342Gln
ENST00000639975.1:c.1024A>C	ENSP00000492096.1:p.Lys342Gln
ENST00000640500.1:n.388A>C
ENST00000640574.1:c.805A>C	ENSP00000491582.1:p.Lys269Gln
ENST00000640739.1:n.3621A>C
ENST00000640910.1:c.528A>C
ENST00000640985.1:c.1003A>C	ENSP00000492293.1:p.Lys335Gln
ENST00000641017.1:c.1090A>C	ENSP00000493461.1:p.Lys364Gln
ENST00000356592.7:c.1090A>C	ENSP00000349000.3:p.Lys364Gln
ENST00000361925.8:c.1090A>C	ENSP00000354651.4:p.Lys364Gln
ENST00000414552.6:c.1210A>C	ENSP00000410732.2:p.Lys404Gln
ENST00000522990.5:c.*692A>C	ENSP00000430732.1:n.*692A>C
ENST00000523372.1:c.1211A>C	ENSP00000430124.1:n.1211A>C
NM_000816.3:c.1090A>C	NP_000807.2:p.Lys364Gln
NM_198903.2:c.1210A>C	NP_944493.2:p.Lys404Gln
NM_198904.2:c.1090A>C	NP_944494.1:p.Lys364Gln
NM_001375339.1:c.1081A>C	NP_001362268.1:p.Lys361Gln
NM_001375340.1:c.923-2455A>C	NP_001362269.1:n.923-2455A>C
NM_001375341.1:c.1087A>C	NP_001362270.1:p.Lys363Gln
NM_001375342.1:c.1087A>C	NP_001362271.1:p.Lys363Gln
NM_001375343.1:c.1210A>C	NP_001362272.1:p.Lys404Gln
NM_001375344.1:c.1129A>C	NP_001362273.1:p.Lys377Gln
NM_001375345.1:c.1024A>C	NP_001362274.1:p.Lys342Gln
NM_001375346.1:c.1024A>C	NP_001362275.1:p.Lys342Gln
NM_001375347.1:c.1003A>C	NP_001362276.1:p.Lys335Gln
NM_001375348.1:c.670A>C	NP_001362277.1:p.Lys224Gln
NM_001375349.1:c.805A>C	NP_001362278.1:p.Lys269Gln
NM_001375350.1:c.670A>C	NP_001362279.1:p.Lys224Gln
NM_198904.3:c.1090A>C	NP_944494.1:p.Lys364Gln
NM_198904.4:c.1090A>C MANE Select	NP_944494.1:p.Lys364Gln