Canonical Allele Identifier: CA362183820

Gene: GABRG2

Linked Data

• MyVariant Identifiers: chr5:g.161580271T>A (hg19) ; chr5:g.162153265T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153265T>A , CM000667.2:g.162153265T>A	GRCh38
NC_000005.9:g.161580271T>A , CM000667.1:g.161580271T>A	GRCh37
NC_000005.8:g.161512849T>A	NCBI36
NG_009290.1:g.90624T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1326T>A
ENST00000361925.9:c.1421T>A	ENSP00000354651.5:p.Ile474Lys
ENST00000523372.2:c.1384T>A
ENST00000638253.1:n.579T>A
ENST00000638552.1:c.1016T>A	ENSP00000491763.1:p.Ile339Lys
ENST00000638660.1:c.1040T>A	ENSP00000492869.1:p.Ile347Lys
ENST00000638772.1:c.*3922T>A	ENSP00000491557.1:n.*3922T>A
ENST00000638877.1:c.1202T>A
ENST00000639046.1:c.692T>A	ENSP00000492659.1:p.Ile231Lys
ENST00000639111.2:c.1301T>A	ENSP00000492125.2:p.Ile434Lys
ENST00000639213.2:c.1325T>A MANE Select	ENSP00000491909.2:p.Ile442Lys
ENST00000639278.1:c.1988T>A	ENSP00000491958.1:n.1988T>A
ENST00000639384.1:c.*1506T>A	ENSP00000491240.1:n.*1506T>A
ENST00000639424.1:c.*525T>A	ENSP00000491245.1:n.*525T>A
ENST00000639683.1:c.1259T>A	ENSP00000492581.1:p.Ile420Lys
ENST00000639975.1:c.1235T>A	ENSP00000492096.1:p.Ile412Lys
ENST00000640500.1:n.599T>A
ENST00000640739.1:n.6272T>A
ENST00000640910.1:c.763T>A
ENST00000640985.1:c.1238T>A	ENSP00000492293.1:p.Ile413Lys
ENST00000641017.1:c.1394T>A	ENSP00000493461.1:p.Ile465Lys
ENST00000356592.7:c.1325T>A	ENSP00000349000.3:p.Ile442Lys
ENST00000361925.8:c.1301T>A	ENSP00000354651.4:p.Ile434Lys
ENST00000414552.6:c.1445T>A	ENSP00000410732.2:p.Ile482Lys
ENST00000522990.5:c.*903T>A	ENSP00000430732.1:n.*903T>A
ENST00000523372.1:c.1422T>A	ENSP00000430124.1:n.1422T>A
NM_000816.3:c.1301T>A	NP_000807.2:p.Ile434Lys
NM_198903.2:c.1445T>A	NP_944493.2:p.Ile482Lys
NM_198904.2:c.1325T>A	NP_944494.1:p.Ile442Lys
NM_001375339.1:c.1316T>A	NP_001362268.1:p.Ile439Lys
NM_001375340.1:c.*159T>A	NP_001362269.1:n.*159T>A
NM_001375341.1:c.1322T>A	NP_001362270.1:p.Ile441Lys
NM_001375342.1:c.1298T>A	NP_001362271.1:p.Ile433Lys
NM_001375343.1:c.1421T>A	NP_001362272.1:p.Ile474Lys
NM_001375344.1:c.1364T>A	NP_001362273.1:p.Ile455Lys
NM_001375345.1:c.1235T>A	NP_001362274.1:p.Ile412Lys
NM_001375346.1:c.1259T>A	NP_001362275.1:p.Ile420Lys
NM_001375347.1:c.1238T>A	NP_001362276.1:p.Ile413Lys
NM_001375348.1:c.881T>A	NP_001362277.1:p.Ile294Lys
NM_001375349.1:c.1016T>A	NP_001362278.1:p.Ile339Lys
NM_001375350.1:c.905T>A	NP_001362279.1:p.Ile302Lys
NM_198904.3:c.1325T>A	NP_944494.1:p.Ile442Lys
NM_198904.4:c.1325T>A MANE Select	NP_944494.1:p.Ile442Lys