Canonical Allele Identifier: CA362182558

Gene: GABRG2

Linked Data

• MyVariant Identifiers: chr5:g.161576236G>T (hg19) ; chr5:g.162149230G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162149230G>T , CM000667.2:g.162149230G>T	GRCh38
NC_000005.9:g.161576236G>T , CM000667.1:g.161576236G>T	GRCh37
NC_000005.8:g.161508814G>T	NCBI36
NG_009290.1:g.86589G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1046G>T
ENST00000361925.9:c.1165G>T	ENSP00000354651.5:p.Ala389Ser
ENST00000523372.2:c.1128G>T
ENST00000638253.1:n.299G>T
ENST00000638552.1:c.760G>T	ENSP00000491763.1:p.Ala254Ser
ENST00000638660.1:c.760G>T	ENSP00000492869.1:p.Ala254Ser
ENST00000638772.1:c.1045G>T	ENSP00000491557.1:p.Ala349Ser
ENST00000638877.1:c.922G>T
ENST00000639046.1:c.436G>T	ENSP00000492659.1:p.Ala146Ser
ENST00000639111.2:c.1045G>T	ENSP00000492125.2:p.Ala349Ser
ENST00000639213.2:c.1045G>T MANE Select	ENSP00000491909.2:p.Ala349Ser
ENST00000639278.1:c.973G>T	ENSP00000491958.1:p.Ala325Ser
ENST00000639384.1:c.1045G>T	ENSP00000491240.1:p.Ala349Ser
ENST00000639424.1:c.*245G>T	ENSP00000491245.1:n.*245G>T
ENST00000639683.1:c.979G>T	ENSP00000492581.1:p.Ala327Ser
ENST00000639975.1:c.979G>T	ENSP00000492096.1:p.Ala327Ser
ENST00000640500.1:n.343G>T
ENST00000640574.1:c.760G>T	ENSP00000491582.1:p.Ala254Ser
ENST00000640739.1:n.3576G>T
ENST00000640910.1:c.483G>T
ENST00000640985.1:c.958G>T	ENSP00000492293.1:p.Ala320Ser
ENST00000641017.1:c.1045G>T	ENSP00000493461.1:p.Ala349Ser
ENST00000356592.7:c.1045G>T	ENSP00000349000.3:p.Ala349Ser
ENST00000361925.8:c.1045G>T	ENSP00000354651.4:p.Ala349Ser
ENST00000414552.6:c.1165G>T	ENSP00000410732.2:p.Ala389Ser
ENST00000522990.5:c.*647G>T	ENSP00000430732.1:n.*647G>T
ENST00000523372.1:c.1166G>T	ENSP00000430124.1:n.1166G>T
NM_000816.3:c.1045G>T	NP_000807.2:p.Ala349Ser
NM_198903.2:c.1165G>T	NP_944493.2:p.Ala389Ser
NM_198904.2:c.1045G>T	NP_944494.1:p.Ala349Ser
NM_001375339.1:c.1036G>T	NP_001362268.1:p.Ala346Ser
NM_001375340.1:c.923-2500G>T	NP_001362269.1:n.923-2500G>T
NM_001375341.1:c.1042G>T	NP_001362270.1:p.Ala348Ser
NM_001375342.1:c.1042G>T	NP_001362271.1:p.Ala348Ser
NM_001375343.1:c.1165G>T	NP_001362272.1:p.Ala389Ser
NM_001375344.1:c.1084G>T	NP_001362273.1:p.Ala362Ser
NM_001375345.1:c.979G>T	NP_001362274.1:p.Ala327Ser
NM_001375346.1:c.979G>T	NP_001362275.1:p.Ala327Ser
NM_001375347.1:c.958G>T	NP_001362276.1:p.Ala320Ser
NM_001375348.1:c.625G>T	NP_001362277.1:p.Ala209Ser
NM_001375349.1:c.760G>T	NP_001362278.1:p.Ala254Ser
NM_001375350.1:c.625G>T	NP_001362279.1:p.Ala209Ser
NM_198904.3:c.1045G>T	NP_944494.1:p.Ala349Ser
NM_198904.4:c.1045G>T MANE Select	NP_944494.1:p.Ala349Ser