Canonical Allele Identifier: CA362183816

Gene: GABRG2

Linked Data

• ClinVar Variation Id: 2947447
• ClinVar RCV Id: RCV003804077
• MyVariant Identifiers: chr5:g.161580270A>G (hg19) ; chr5:g.162153264A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153264A>G , CM000667.2:g.162153264A>G	GRCh38
NC_000005.9:g.161580270A>G , CM000667.1:g.161580270A>G	GRCh37
NC_000005.8:g.161512848A>G	NCBI36
NG_009290.1:g.90623A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1325A>G
ENST00000361925.9:c.1420A>G	ENSP00000354651.5:p.Ile474Val
ENST00000523372.2:c.1383A>G
ENST00000638253.1:n.578A>G
ENST00000638552.1:c.1015A>G	ENSP00000491763.1:p.Ile339Val
ENST00000638660.1:c.1039A>G	ENSP00000492869.1:p.Ile347Val
ENST00000638772.1:c.*3921A>G	ENSP00000491557.1:n.*3921A>G
ENST00000638877.1:c.1201A>G
ENST00000639046.1:c.691A>G	ENSP00000492659.1:p.Ile231Val
ENST00000639111.2:c.1300A>G	ENSP00000492125.2:p.Ile434Val
ENST00000639213.2:c.1324A>G MANE Select	ENSP00000491909.2:p.Ile442Val
ENST00000639278.1:c.1987A>G	ENSP00000491958.1:n.1987A>G
ENST00000639384.1:c.*1505A>G	ENSP00000491240.1:n.*1505A>G
ENST00000639424.1:c.*524A>G	ENSP00000491245.1:n.*524A>G
ENST00000639683.1:c.1258A>G	ENSP00000492581.1:p.Ile420Val
ENST00000639975.1:c.1234A>G	ENSP00000492096.1:p.Ile412Val
ENST00000640500.1:n.598A>G
ENST00000640739.1:n.6271A>G
ENST00000640910.1:c.762A>G
ENST00000640985.1:c.1237A>G	ENSP00000492293.1:p.Ile413Val
ENST00000641017.1:c.1393A>G	ENSP00000493461.1:p.Ile465Val
ENST00000356592.7:c.1324A>G	ENSP00000349000.3:p.Ile442Val
ENST00000361925.8:c.1300A>G	ENSP00000354651.4:p.Ile434Val
ENST00000414552.6:c.1444A>G	ENSP00000410732.2:p.Ile482Val
ENST00000522990.5:c.*902A>G	ENSP00000430732.1:n.*902A>G
ENST00000523372.1:c.1421A>G	ENSP00000430124.1:n.1421A>G
NM_000816.3:c.1300A>G	NP_000807.2:p.Ile434Val
NM_198903.2:c.1444A>G	NP_944493.2:p.Ile482Val
NM_198904.2:c.1324A>G	NP_944494.1:p.Ile442Val
NM_001375339.1:c.1315A>G	NP_001362268.1:p.Ile439Val
NM_001375340.1:c.*158A>G	NP_001362269.1:n.*158A>G
NM_001375341.1:c.1321A>G	NP_001362270.1:p.Ile441Val
NM_001375342.1:c.1297A>G	NP_001362271.1:p.Ile433Val
NM_001375343.1:c.1420A>G	NP_001362272.1:p.Ile474Val
NM_001375344.1:c.1363A>G	NP_001362273.1:p.Ile455Val
NM_001375345.1:c.1234A>G	NP_001362274.1:p.Ile412Val
NM_001375346.1:c.1258A>G	NP_001362275.1:p.Ile420Val
NM_001375347.1:c.1237A>G	NP_001362276.1:p.Ile413Val
NM_001375348.1:c.880A>G	NP_001362277.1:p.Ile294Val
NM_001375349.1:c.1015A>G	NP_001362278.1:p.Ile339Val
NM_001375350.1:c.904A>G	NP_001362279.1:p.Ile302Val
NM_198904.3:c.1324A>G	NP_944494.1:p.Ile442Val
NM_198904.4:c.1324A>G MANE Select	NP_944494.1:p.Ile442Val