Canonical Allele Identifier: CA362183976

Gene: GABRG2

Linked Data

• MyVariant Identifiers: chr5:g.161580307G>T (hg19) ; chr5:g.162153301G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153301G>T , CM000667.2:g.162153301G>T	GRCh38
NC_000005.9:g.161580307G>T , CM000667.1:g.161580307G>T	GRCh37
NC_000005.8:g.161512885G>T	NCBI36
NG_009290.1:g.90660G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1362G>T
ENST00000361925.9:c.1457G>T	ENSP00000354651.5:p.Arg486Leu
ENST00000523372.2:c.1420G>T
ENST00000638253.1:n.615G>T
ENST00000638552.1:c.1052G>T	ENSP00000491763.1:p.Arg351Leu
ENST00000638660.1:c.1076G>T	ENSP00000492869.1:p.Arg359Leu
ENST00000638772.1:c.*3958G>T	ENSP00000491557.1:n.*3958G>T
ENST00000638877.1:c.1238G>T
ENST00000639046.1:c.728G>T	ENSP00000492659.1:p.Arg243Leu
ENST00000639111.2:c.1337G>T	ENSP00000492125.2:p.Arg446Leu
ENST00000639213.2:c.1361G>T MANE Select	ENSP00000491909.2:p.Arg454Leu
ENST00000639278.1:c.2024G>T	ENSP00000491958.1:n.2024G>T
ENST00000639384.1:c.*1542G>T	ENSP00000491240.1:n.*1542G>T
ENST00000639424.1:c.*561G>T	ENSP00000491245.1:n.*561G>T
ENST00000639683.1:c.1295G>T	ENSP00000492581.1:p.Arg432Leu
ENST00000639975.1:c.1271G>T	ENSP00000492096.1:p.Arg424Leu
ENST00000640500.1:n.635G>T
ENST00000640739.1:n.6308G>T
ENST00000640910.1:c.799G>T
ENST00000640985.1:c.1274G>T	ENSP00000492293.1:p.Arg425Leu
ENST00000641017.1:c.1430G>T	ENSP00000493461.1:p.Arg477Leu
ENST00000356592.7:c.1361G>T	ENSP00000349000.3:p.Arg454Leu
ENST00000361925.8:c.1337G>T	ENSP00000354651.4:p.Arg446Leu
ENST00000414552.6:c.1481G>T	ENSP00000410732.2:p.Arg494Leu
ENST00000522990.5:c.*939G>T	ENSP00000430732.1:n.*939G>T
ENST00000523372.1:c.1458G>T	ENSP00000430124.1:n.1458G>T
NM_000816.3:c.1337G>T	NP_000807.2:p.Arg446Leu
NM_198903.2:c.1481G>T	NP_944493.2:p.Arg494Leu
NM_198904.2:c.1361G>T	NP_944494.1:p.Arg454Leu
NM_001375339.1:c.1352G>T	NP_001362268.1:p.Arg451Leu
NM_001375340.1:c.*195G>T	NP_001362269.1:n.*195G>T
NM_001375341.1:c.1358G>T	NP_001362270.1:p.Arg453Leu
NM_001375342.1:c.1334G>T	NP_001362271.1:p.Arg445Leu
NM_001375343.1:c.1457G>T	NP_001362272.1:p.Arg486Leu
NM_001375344.1:c.1400G>T	NP_001362273.1:p.Arg467Leu
NM_001375345.1:c.1271G>T	NP_001362274.1:p.Arg424Leu
NM_001375346.1:c.1295G>T	NP_001362275.1:p.Arg432Leu
NM_001375347.1:c.1274G>T	NP_001362276.1:p.Arg425Leu
NM_001375348.1:c.917G>T	NP_001362277.1:p.Arg306Leu
NM_001375349.1:c.1052G>T	NP_001362278.1:p.Arg351Leu
NM_001375350.1:c.941G>T	NP_001362279.1:p.Arg314Leu
NM_198904.3:c.1361G>T	NP_944494.1:p.Arg454Leu
NM_198904.4:c.1361G>T MANE Select	NP_944494.1:p.Arg454Leu