Canonical Allele Identifier: CA362182559

Gene: GABRG2

Linked Data

• MyVariant Identifiers: chr5:g.161576237C>T (hg19) ; chr5:g.162149231C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162149231C>T , CM000667.2:g.162149231C>T	GRCh38
NC_000005.9:g.161576237C>T , CM000667.1:g.161576237C>T	GRCh37
NC_000005.8:g.161508815C>T	NCBI36
NG_009290.1:g.86590C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1047C>T
ENST00000361925.9:c.1166C>T	ENSP00000354651.5:p.Ala389Val
ENST00000523372.2:c.1129C>T
ENST00000638253.1:n.300C>T
ENST00000638552.1:c.761C>T	ENSP00000491763.1:p.Ala254Val
ENST00000638660.1:c.761C>T	ENSP00000492869.1:p.Ala254Val
ENST00000638772.1:c.1046C>T	ENSP00000491557.1:p.Ala349Val
ENST00000638877.1:c.923C>T
ENST00000639046.1:c.437C>T	ENSP00000492659.1:p.Ala146Val
ENST00000639111.2:c.1046C>T	ENSP00000492125.2:p.Ala349Val
ENST00000639213.2:c.1046C>T MANE Select	ENSP00000491909.2:p.Ala349Val
ENST00000639278.1:c.974C>T	ENSP00000491958.1:p.Ala325Val
ENST00000639384.1:c.1046C>T	ENSP00000491240.1:p.Ala349Val
ENST00000639424.1:c.*246C>T	ENSP00000491245.1:n.*246C>T
ENST00000639683.1:c.980C>T	ENSP00000492581.1:p.Ala327Val
ENST00000639975.1:c.980C>T	ENSP00000492096.1:p.Ala327Val
ENST00000640500.1:n.344C>T
ENST00000640574.1:c.761C>T	ENSP00000491582.1:p.Ala254Val
ENST00000640739.1:n.3577C>T
ENST00000640910.1:c.484C>T
ENST00000640985.1:c.959C>T	ENSP00000492293.1:p.Ala320Val
ENST00000641017.1:c.1046C>T	ENSP00000493461.1:p.Ala349Val
ENST00000356592.7:c.1046C>T	ENSP00000349000.3:p.Ala349Val
ENST00000361925.8:c.1046C>T	ENSP00000354651.4:p.Ala349Val
ENST00000414552.6:c.1166C>T	ENSP00000410732.2:p.Ala389Val
ENST00000522990.5:c.*648C>T	ENSP00000430732.1:n.*648C>T
ENST00000523372.1:c.1167C>T	ENSP00000430124.1:n.1167C>T
NM_000816.3:c.1046C>T	NP_000807.2:p.Ala349Val
NM_198903.2:c.1166C>T	NP_944493.2:p.Ala389Val
NM_198904.2:c.1046C>T	NP_944494.1:p.Ala349Val
NM_001375339.1:c.1037C>T	NP_001362268.1:p.Ala346Val
NM_001375340.1:c.923-2499C>T	NP_001362269.1:n.923-2499C>T
NM_001375341.1:c.1043C>T	NP_001362270.1:p.Ala348Val
NM_001375342.1:c.1043C>T	NP_001362271.1:p.Ala348Val
NM_001375343.1:c.1166C>T	NP_001362272.1:p.Ala389Val
NM_001375344.1:c.1085C>T	NP_001362273.1:p.Ala362Val
NM_001375345.1:c.980C>T	NP_001362274.1:p.Ala327Val
NM_001375346.1:c.980C>T	NP_001362275.1:p.Ala327Val
NM_001375347.1:c.959C>T	NP_001362276.1:p.Ala320Val
NM_001375348.1:c.626C>T	NP_001362277.1:p.Ala209Val
NM_001375349.1:c.761C>T	NP_001362278.1:p.Ala254Val
NM_001375350.1:c.626C>T	NP_001362279.1:p.Ala209Val
NM_198904.3:c.1046C>T	NP_944494.1:p.Ala349Val
NM_198904.4:c.1046C>T MANE Select	NP_944494.1:p.Ala349Val