Canonical Allele Identifier: CA447691937

Gene: GABRG2

Linked Data

• COSMIC: COSM3247979
• MyVariant Identifiers: chr5:g.161580281C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153275C>T , CM000667.2:g.162153275C>T	GRCh38
NC_000005.9:g.161580281C>T , CM000667.1:g.161580281C>T	GRCh37
NC_000005.8:g.161512859C>T	NCBI36
NG_009290.1:g.90634C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1336C>T
ENST00000361925.9:c.1431C>T	ENSP00000354651.5:p.Arg477=
ENST00000523372.2:c.1394C>T
ENST00000638253.1:n.589C>T
ENST00000638552.1:c.1026C>T	ENSP00000491763.1:p.Arg342=
ENST00000638660.1:c.1050C>T	ENSP00000492869.1:p.Arg350=
ENST00000638772.1:c.*3932C>T	ENSP00000491557.1:n.*3932C>T
ENST00000638877.1:c.1212C>T
ENST00000639046.1:c.702C>T	ENSP00000492659.1:p.Arg234=
ENST00000639111.2:c.1311C>T	ENSP00000492125.2:p.Arg437=
ENST00000639213.2:c.1335C>T MANE Select	ENSP00000491909.2:p.Arg445=
ENST00000639278.1:c.1998C>T	ENSP00000491958.1:n.1998C>T
ENST00000639384.1:c.*1516C>T	ENSP00000491240.1:n.*1516C>T
ENST00000639424.1:c.*535C>T	ENSP00000491245.1:n.*535C>T
ENST00000639683.1:c.1269C>T	ENSP00000492581.1:p.Arg423=
ENST00000639975.1:c.1245C>T	ENSP00000492096.1:p.Arg415=
ENST00000640500.1:n.609C>T
ENST00000640739.1:n.6282C>T
ENST00000640910.1:c.773C>T
ENST00000640985.1:c.1248C>T	ENSP00000492293.1:p.Arg416=
ENST00000641017.1:c.1404C>T	ENSP00000493461.1:p.Arg468=
ENST00000356592.7:c.1335C>T	ENSP00000349000.3:p.Arg445=
ENST00000361925.8:c.1311C>T	ENSP00000354651.4:p.Arg437=
ENST00000414552.6:c.1455C>T	ENSP00000410732.2:p.Arg485=
ENST00000522990.5:c.*913C>T	ENSP00000430732.1:n.*913C>T
ENST00000523372.1:c.1432C>T	ENSP00000430124.1:n.1432C>T
NM_000816.3:c.1311C>T	NP_000807.2:p.Arg437=
NM_198903.2:c.1455C>T	NP_944493.2:p.Arg485=
NM_198904.2:c.1335C>T	NP_944494.1:p.Arg445=
NM_001375339.1:c.1326C>T	NP_001362268.1:p.Arg442=
NM_001375340.1:c.*169C>T	NP_001362269.1:n.*169C>T
NM_001375341.1:c.1332C>T	NP_001362270.1:p.Arg444=
NM_001375342.1:c.1308C>T	NP_001362271.1:p.Arg436=
NM_001375343.1:c.1431C>T	NP_001362272.1:p.Arg477=
NM_001375344.1:c.1374C>T	NP_001362273.1:p.Arg458=
NM_001375345.1:c.1245C>T	NP_001362274.1:p.Arg415=
NM_001375346.1:c.1269C>T	NP_001362275.1:p.Arg423=
NM_001375347.1:c.1248C>T	NP_001362276.1:p.Arg416=
NM_001375348.1:c.891C>T	NP_001362277.1:p.Arg297=
NM_001375349.1:c.1026C>T	NP_001362278.1:p.Arg342=
NM_001375350.1:c.915C>T	NP_001362279.1:p.Arg305=
NM_198904.3:c.1335C>T	NP_944494.1:p.Arg445=
NM_198904.4:c.1335C>T MANE Select	NP_944494.1:p.Arg445=