Canonical Allele Identifier: CA1139659245

Gene: GABRG2

Linked Data

• ClinVar Variation Id: 944808
• ClinVar RCV Id: RCV001215295
• dbSNP Id: rs1765186475

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162149272del , CM000667.2:g.162149272del	GRCh38
NC_000005.9:g.161576278del , CM000667.1:g.161576278del	GRCh37
NC_000005.8:g.161508856del	NCBI36
NG_009290.1:g.86631del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1088del
ENST00000361925.9:c.1207del	ENSP00000354651.5:p.Arg403GlyfsTer29
ENST00000523372.2:c.1170del
ENST00000638253.1:n.341del
ENST00000638552.1:c.802del	ENSP00000491763.1:p.Arg268GlyfsTer29
ENST00000638660.1:c.802del	ENSP00000492869.1:p.Arg268GlyfsTer?
ENST00000638772.1:c.1087del	ENSP00000491557.1:p.Arg363GlyfsTer?
ENST00000638877.1:c.964del
ENST00000639046.1:c.478del	ENSP00000492659.1:p.Arg160GlyfsTer29
ENST00000639111.2:c.1087del	ENSP00000492125.2:p.Arg363GlyfsTer29
ENST00000639213.2:c.1087del MANE Select	ENSP00000491909.2:p.Arg363GlyfsTer?
ENST00000639278.1:c.1015del	ENSP00000491958.1:p.Arg339GlyfsTer19
ENST00000639384.1:c.1087del	ENSP00000491240.1:p.Arg363GlyfsTer?
ENST00000639424.1:c.*287del	ENSP00000491245.1:n.*287del
ENST00000639683.1:c.1021del	ENSP00000492581.1:p.Arg341GlyfsTer?
ENST00000639975.1:c.1021del	ENSP00000492096.1:p.Arg341GlyfsTer29
ENST00000640500.1:n.385del
ENST00000640574.1:c.802del	ENSP00000491582.1:p.Arg268GlyfsTer?
ENST00000640739.1:n.3618del
ENST00000640910.1:c.525del
ENST00000640985.1:c.1000del	ENSP00000492293.1:p.Arg334GlyfsTer?
ENST00000641017.1:c.1087del	ENSP00000493461.1:p.Arg363GlyfsTer?
ENST00000356592.7:c.1087del	ENSP00000349000.3:p.Arg363GlyfsTer?
ENST00000361925.8:c.1087del	ENSP00000354651.4:p.Arg363GlyfsTer29
ENST00000414552.6:c.1207del	ENSP00000410732.2:p.Arg403GlyfsTer?
ENST00000522990.5:c.*689del	ENSP00000430732.1:n.*689del
ENST00000523372.1:c.1208del	ENSP00000430124.1:n.1208del
NM_000816.3:c.1087del	NP_000807.2:p.Arg363GlyfsTer29
NM_198903.2:c.1207del	NP_944493.2:p.Arg403GlyfsTer?
NM_198904.2:c.1087del	NP_944494.1:p.Arg363GlyfsTer?
NM_001375339.1:c.1078del	NP_001362268.1:p.Arg360GlyfsTer?
NM_001375340.1:c.923-2458del	NP_001362269.1:n.923-2458del
NM_001375341.1:c.1084del	NP_001362270.1:p.Arg362GlyfsTer?
NM_001375342.1:c.1084del	NP_001362271.1:p.Arg362GlyfsTer29
NM_001375343.1:c.1207del	NP_001362272.1:p.Arg403GlyfsTer29
NM_001375344.1:c.1126del	NP_001362273.1:p.Arg376GlyfsTer?
NM_001375345.1:c.1021del	NP_001362274.1:p.Arg341GlyfsTer29
NM_001375346.1:c.1021del	NP_001362275.1:p.Arg341GlyfsTer?
NM_001375347.1:c.1000del	NP_001362276.1:p.Arg334GlyfsTer?
NM_001375348.1:c.667del	NP_001362277.1:p.Arg223GlyfsTer29
NM_001375349.1:c.802del	NP_001362278.1:p.Arg268GlyfsTer29
NM_001375350.1:c.667del	NP_001362279.1:p.Arg223GlyfsTer?
NM_198904.3:c.1087del	NP_944494.1:p.Arg363GlyfsTer?
NM_198904.4:c.1087del MANE Select	NP_944494.1:p.Arg363GlyfsTer?