Canonical Allele Identifier: CA362183194

Gene: GABRG2

Linked Data

• MyVariant Identifiers: chr5:g.161580108A>T (hg19) ; chr5:g.162153102A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153102A>T , CM000667.2:g.162153102A>T	GRCh38
NC_000005.9:g.161580108A>T , CM000667.1:g.161580108A>T	GRCh37
NC_000005.8:g.161512686A>T	NCBI36
NG_009290.1:g.90461A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000356592.8:c.1163A>T
ENST00000361925.9:c.1258A>T	ENSP00000354651.5:p.Ile420Phe
ENST00000523372.2:c.1221A>T
ENST00000638253.1:n.416A>T
ENST00000638552.1:c.853A>T	ENSP00000491763.1:p.Ile285Phe
ENST00000638660.1:c.877A>T	ENSP00000492869.1:p.Ile293Phe
ENST00000638772.1:c.*3759A>T	ENSP00000491557.1:n.*3759A>T
ENST00000638877.1:c.1039A>T
ENST00000639046.1:c.529A>T	ENSP00000492659.1:p.Ile177Phe
ENST00000639111.2:c.1138A>T	ENSP00000492125.2:p.Ile380Phe
ENST00000639213.2:c.1162A>T MANE Select	ENSP00000491909.2:p.Ile388Phe
ENST00000639278.1:c.1825A>T	ENSP00000491958.1:n.1825A>T
ENST00000639384.1:c.*1343A>T	ENSP00000491240.1:n.*1343A>T
ENST00000639424.1:c.*362A>T	ENSP00000491245.1:n.*362A>T
ENST00000639683.1:c.1096A>T	ENSP00000492581.1:p.Ile366Phe
ENST00000639975.1:c.1072A>T	ENSP00000492096.1:p.Ile358Phe
ENST00000640500.1:n.436A>T
ENST00000640739.1:n.6109A>T
ENST00000640910.1:c.600A>T
ENST00000640985.1:c.1075A>T	ENSP00000492293.1:p.Ile359Phe
ENST00000641017.1:c.1231A>T	ENSP00000493461.1:p.Ile411Phe
ENST00000356592.7:c.1162A>T	ENSP00000349000.3:p.Ile388Phe
ENST00000361925.8:c.1138A>T	ENSP00000354651.4:p.Ile380Phe
ENST00000414552.6:c.1282A>T	ENSP00000410732.2:p.Ile428Phe
ENST00000522990.5:c.*740A>T	ENSP00000430732.1:n.*740A>T
ENST00000523372.1:c.1259A>T	ENSP00000430124.1:n.1259A>T
NM_000816.3:c.1138A>T	NP_000807.2:p.Ile380Phe
NM_198903.2:c.1282A>T	NP_944493.2:p.Ile428Phe
NM_198904.2:c.1162A>T	NP_944494.1:p.Ile388Phe
NM_001375339.1:c.1153A>T	NP_001362268.1:p.Ile385Phe
NM_001375340.1:c.956A>T	NP_001362269.1:p.His319Leu
NM_001375341.1:c.1159A>T	NP_001362270.1:p.Ile387Phe
NM_001375342.1:c.1135A>T	NP_001362271.1:p.Ile379Phe
NM_001375343.1:c.1258A>T	NP_001362272.1:p.Ile420Phe
NM_001375344.1:c.1201A>T	NP_001362273.1:p.Ile401Phe
NM_001375345.1:c.1072A>T	NP_001362274.1:p.Ile358Phe
NM_001375346.1:c.1096A>T	NP_001362275.1:p.Ile366Phe
NM_001375347.1:c.1075A>T	NP_001362276.1:p.Ile359Phe
NM_001375348.1:c.718A>T	NP_001362277.1:p.Ile240Phe
NM_001375349.1:c.853A>T	NP_001362278.1:p.Ile285Phe
NM_001375350.1:c.742A>T	NP_001362279.1:p.Ile248Phe
NM_198904.3:c.1162A>T	NP_944494.1:p.Ile388Phe
NM_198904.4:c.1162A>T MANE Select	NP_944494.1:p.Ile388Phe