Canonical Allele Identifier: CA362183814

Gene: GABRG2

Linked Data

• MyVariant Identifiers: chr5:g.161580269G>T (hg19) ; chr5:g.162153263G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153263G>T , CM000667.2:g.162153263G>T	GRCh38
NC_000005.9:g.161580269G>T , CM000667.1:g.161580269G>T	GRCh37
NC_000005.8:g.161512847G>T	NCBI36
NG_009290.1:g.90622G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1324G>T
ENST00000361925.9:c.1419G>T	ENSP00000354651.5:p.Arg473Ser
ENST00000523372.2:c.1382G>T
ENST00000638253.1:n.577G>T
ENST00000638552.1:c.1014G>T	ENSP00000491763.1:p.Arg338Ser
ENST00000638660.1:c.1038G>T	ENSP00000492869.1:p.Arg346Ser
ENST00000638772.1:c.*3920G>T	ENSP00000491557.1:n.*3920G>T
ENST00000638877.1:c.1200G>T
ENST00000639046.1:c.690G>T	ENSP00000492659.1:p.Arg230Ser
ENST00000639111.2:c.1299G>T	ENSP00000492125.2:p.Arg433Ser
ENST00000639213.2:c.1323G>T MANE Select	ENSP00000491909.2:p.Arg441Ser
ENST00000639278.1:c.1986G>T	ENSP00000491958.1:n.1986G>T
ENST00000639384.1:c.*1504G>T	ENSP00000491240.1:n.*1504G>T
ENST00000639424.1:c.*523G>T	ENSP00000491245.1:n.*523G>T
ENST00000639683.1:c.1257G>T	ENSP00000492581.1:p.Arg419Ser
ENST00000639975.1:c.1233G>T	ENSP00000492096.1:p.Arg411Ser
ENST00000640500.1:n.597G>T
ENST00000640739.1:n.6270G>T
ENST00000640910.1:c.761G>T
ENST00000640985.1:c.1236G>T	ENSP00000492293.1:p.Arg412Ser
ENST00000641017.1:c.1392G>T	ENSP00000493461.1:p.Arg464Ser
ENST00000356592.7:c.1323G>T	ENSP00000349000.3:p.Arg441Ser
ENST00000361925.8:c.1299G>T	ENSP00000354651.4:p.Arg433Ser
ENST00000414552.6:c.1443G>T	ENSP00000410732.2:p.Arg481Ser
ENST00000522990.5:c.*901G>T	ENSP00000430732.1:n.*901G>T
ENST00000523372.1:c.1420G>T	ENSP00000430124.1:n.1420G>T
NM_000816.3:c.1299G>T	NP_000807.2:p.Arg433Ser
NM_198903.2:c.1443G>T	NP_944493.2:p.Arg481Ser
NM_198904.2:c.1323G>T	NP_944494.1:p.Arg441Ser
NM_001375339.1:c.1314G>T	NP_001362268.1:p.Arg438Ser
NM_001375340.1:c.*157G>T	NP_001362269.1:n.*157G>T
NM_001375341.1:c.1320G>T	NP_001362270.1:p.Arg440Ser
NM_001375342.1:c.1296G>T	NP_001362271.1:p.Arg432Ser
NM_001375343.1:c.1419G>T	NP_001362272.1:p.Arg473Ser
NM_001375344.1:c.1362G>T	NP_001362273.1:p.Arg454Ser
NM_001375345.1:c.1233G>T	NP_001362274.1:p.Arg411Ser
NM_001375346.1:c.1257G>T	NP_001362275.1:p.Arg419Ser
NM_001375347.1:c.1236G>T	NP_001362276.1:p.Arg412Ser
NM_001375348.1:c.879G>T	NP_001362277.1:p.Arg293Ser
NM_001375349.1:c.1014G>T	NP_001362278.1:p.Arg338Ser
NM_001375350.1:c.903G>T	NP_001362279.1:p.Arg301Ser
NM_198904.3:c.1323G>T	NP_944494.1:p.Arg441Ser
NM_198904.4:c.1323G>T MANE Select	NP_944494.1:p.Arg441Ser