Canonical Allele Identifier: CA362183572

Gene: GABRG2

Linked Data

• MyVariant Identifiers: chr5:g.161580204A>C (hg19) ; chr5:g.162153198A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153198A>C , CM000667.2:g.162153198A>C	GRCh38
NC_000005.9:g.161580204A>C , CM000667.1:g.161580204A>C	GRCh37
NC_000005.8:g.161512782A>C	NCBI36
NG_009290.1:g.90557A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1259A>C
ENST00000361925.9:c.1354A>C	ENSP00000354651.5:p.Lys452Gln
ENST00000523372.2:c.1317A>C
ENST00000638253.1:n.512A>C
ENST00000638552.1:c.949A>C	ENSP00000491763.1:p.Lys317Gln
ENST00000638660.1:c.973A>C	ENSP00000492869.1:p.Lys325Gln
ENST00000638772.1:c.*3855A>C	ENSP00000491557.1:n.*3855A>C
ENST00000638877.1:c.1135A>C
ENST00000639046.1:c.625A>C	ENSP00000492659.1:p.Lys209Gln
ENST00000639111.2:c.1234A>C	ENSP00000492125.2:p.Lys412Gln
ENST00000639213.2:c.1258A>C MANE Select	ENSP00000491909.2:p.Lys420Gln
ENST00000639278.1:c.1921A>C	ENSP00000491958.1:n.1921A>C
ENST00000639384.1:c.*1439A>C	ENSP00000491240.1:n.*1439A>C
ENST00000639424.1:c.*458A>C	ENSP00000491245.1:n.*458A>C
ENST00000639683.1:c.1192A>C	ENSP00000492581.1:p.Lys398Gln
ENST00000639975.1:c.1168A>C	ENSP00000492096.1:p.Lys390Gln
ENST00000640500.1:n.532A>C
ENST00000640739.1:n.6205A>C
ENST00000640910.1:c.696A>C
ENST00000640985.1:c.1171A>C	ENSP00000492293.1:p.Lys391Gln
ENST00000641017.1:c.1327A>C	ENSP00000493461.1:p.Lys443Gln
ENST00000356592.7:c.1258A>C	ENSP00000349000.3:p.Lys420Gln
ENST00000361925.8:c.1234A>C	ENSP00000354651.4:p.Lys412Gln
ENST00000414552.6:c.1378A>C	ENSP00000410732.2:p.Lys460Gln
ENST00000522990.5:c.*836A>C	ENSP00000430732.1:n.*836A>C
ENST00000523372.1:c.1355A>C	ENSP00000430124.1:n.1355A>C
NM_000816.3:c.1234A>C	NP_000807.2:p.Lys412Gln
NM_198903.2:c.1378A>C	NP_944493.2:p.Lys460Gln
NM_198904.2:c.1258A>C	NP_944494.1:p.Lys420Gln
NM_001375339.1:c.1249A>C	NP_001362268.1:p.Lys417Gln
NM_001375340.1:c.*92A>C	NP_001362269.1:n.*92A>C
NM_001375341.1:c.1255A>C	NP_001362270.1:p.Lys419Gln
NM_001375342.1:c.1231A>C	NP_001362271.1:p.Lys411Gln
NM_001375343.1:c.1354A>C	NP_001362272.1:p.Lys452Gln
NM_001375344.1:c.1297A>C	NP_001362273.1:p.Lys433Gln
NM_001375345.1:c.1168A>C	NP_001362274.1:p.Lys390Gln
NM_001375346.1:c.1192A>C	NP_001362275.1:p.Lys398Gln
NM_001375347.1:c.1171A>C	NP_001362276.1:p.Lys391Gln
NM_001375348.1:c.814A>C	NP_001362277.1:p.Lys272Gln
NM_001375349.1:c.949A>C	NP_001362278.1:p.Lys317Gln
NM_001375350.1:c.838A>C	NP_001362279.1:p.Lys280Gln
NM_198904.3:c.1258A>C	NP_944494.1:p.Lys420Gln
NM_198904.4:c.1258A>C MANE Select	NP_944494.1:p.Lys420Gln