Canonical Allele Identifier: CA447610269

Gene: GABRG2

Linked Data

• COSMIC: COSM3613592
• MyVariant Identifiers: chr5:g.161576178C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162149172C>T , CM000667.2:g.162149172C>T	GRCh38
NC_000005.9:g.161576178C>T , CM000667.1:g.161576178C>T	GRCh37
NC_000005.8:g.161508756C>T	NCBI36
NG_009290.1:g.86531C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.988C>T
ENST00000361925.9:c.1107C>T	ENSP00000354651.5:p.Val369=
ENST00000523372.2:c.1070C>T
ENST00000638253.1:n.241C>T
ENST00000638552.1:c.702C>T	ENSP00000491763.1:p.Val234=
ENST00000638660.1:c.702C>T	ENSP00000492869.1:p.Val234=
ENST00000638772.1:c.987C>T	ENSP00000491557.1:p.Val329=
ENST00000638877.1:c.864C>T
ENST00000639046.1:c.378C>T	ENSP00000492659.1:p.Val126=
ENST00000639111.2:c.987C>T	ENSP00000492125.2:p.Val329=
ENST00000639213.2:c.987C>T MANE Select	ENSP00000491909.2:p.Val329=
ENST00000639278.1:c.915C>T	ENSP00000491958.1:p.Val305=
ENST00000639384.1:c.987C>T	ENSP00000491240.1:p.Val329=
ENST00000639424.1:c.*187C>T	ENSP00000491245.1:n.*187C>T
ENST00000639683.1:c.921C>T	ENSP00000492581.1:p.Val307=
ENST00000639975.1:c.921C>T	ENSP00000492096.1:p.Val307=
ENST00000640500.1:n.285C>T
ENST00000640574.1:c.702C>T	ENSP00000491582.1:p.Val234=
ENST00000640739.1:n.3518C>T
ENST00000640910.1:c.425C>T
ENST00000640985.1:c.900C>T	ENSP00000492293.1:p.Val300=
ENST00000641017.1:c.987C>T	ENSP00000493461.1:p.Val329=
ENST00000356592.7:c.987C>T	ENSP00000349000.3:p.Val329=
ENST00000361925.8:c.987C>T	ENSP00000354651.4:p.Val329=
ENST00000414552.6:c.1107C>T	ENSP00000410732.2:p.Val369=
ENST00000522990.5:c.*589C>T	ENSP00000430732.1:n.*589C>T
ENST00000523372.1:c.1108C>T	ENSP00000430124.1:n.1108C>T
NM_000816.3:c.987C>T	NP_000807.2:p.Val329=
NM_198903.2:c.1107C>T	NP_944493.2:p.Val369=
NM_198904.2:c.987C>T	NP_944494.1:p.Val329=
NM_001375339.1:c.978C>T	NP_001362268.1:p.Val326=
NM_001375340.1:c.923-2558C>T	NP_001362269.1:n.923-2558C>T
NM_001375341.1:c.984C>T	NP_001362270.1:p.Val328=
NM_001375342.1:c.984C>T	NP_001362271.1:p.Val328=
NM_001375343.1:c.1107C>T	NP_001362272.1:p.Val369=
NM_001375344.1:c.1026C>T	NP_001362273.1:p.Val342=
NM_001375345.1:c.921C>T	NP_001362274.1:p.Val307=
NM_001375346.1:c.921C>T	NP_001362275.1:p.Val307=
NM_001375347.1:c.900C>T	NP_001362276.1:p.Val300=
NM_001375348.1:c.567C>T	NP_001362277.1:p.Val189=
NM_001375349.1:c.702C>T	NP_001362278.1:p.Val234=
NM_001375350.1:c.567C>T	NP_001362279.1:p.Val189=
NM_198904.3:c.987C>T	NP_944494.1:p.Val329=
NM_198904.4:c.987C>T MANE Select	NP_944494.1:p.Val329=