Canonical Allele Identifier: CA915942711

Gene: GABRG2

Linked Data

• ClinVar Variation Id: 652738
• ClinVar RCV Id: RCV000808359
• dbSNP Id: rs1581453822

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162149220del , CM000667.2:g.162149220del	GRCh38
NC_000005.9:g.161576226del , CM000667.1:g.161576226del	GRCh37
NC_000005.8:g.161508804del	NCBI36
NG_009290.1:g.86579del

Transcript Alleles

HGVS	Amino-acid change
ENST00000356592.8:c.1036del
ENST00000361925.9:c.1155del	ENSP00000354651.5:p.Phe385LeufsTer?
ENST00000523372.2:c.1118del
ENST00000638253.1:n.289del
ENST00000638552.1:c.750del	ENSP00000491763.1:p.Phe250LeufsTer?
ENST00000638660.1:c.750del	ENSP00000492869.1:p.Phe250LeufsTer?
ENST00000638772.1:c.1035del	ENSP00000491557.1:p.Phe345LeufsTer?
ENST00000638877.1:c.912del
ENST00000639046.1:c.426del	ENSP00000492659.1:p.Phe142LeufsTer?
ENST00000639111.2:c.1035del	ENSP00000492125.2:p.Phe345LeufsTer?
ENST00000639213.2:c.1035del MANE Select	ENSP00000491909.2:p.Phe345LeufsTer?
ENST00000639278.1:c.963del	ENSP00000491958.1:p.Phe321LeufsTer?
ENST00000639384.1:c.1035del	ENSP00000491240.1:p.Phe345LeufsTer?
ENST00000639424.1:c.*235del	ENSP00000491245.1:n.*235del
ENST00000639683.1:c.969del	ENSP00000492581.1:p.Phe323LeufsTer?
ENST00000639975.1:c.969del	ENSP00000492096.1:p.Phe323LeufsTer?
ENST00000640500.1:n.333del
ENST00000640574.1:c.750del	ENSP00000491582.1:p.Phe250LeufsTer?
ENST00000640739.1:n.3566del
ENST00000640910.1:c.473del
ENST00000640985.1:c.948del	ENSP00000492293.1:p.Phe316LeufsTer?
ENST00000641017.1:c.1035del	ENSP00000493461.1:p.Phe345LeufsTer?
ENST00000356592.7:c.1035del	ENSP00000349000.3:p.Phe345LeufsTer?
ENST00000361925.8:c.1035del	ENSP00000354651.4:p.Phe345LeufsTer?
ENST00000414552.6:c.1155del	ENSP00000410732.2:p.Phe385LeufsTer?
ENST00000522990.5:c.*637del	ENSP00000430732.1:n.*637del
ENST00000523372.1:c.1156del	ENSP00000430124.1:n.1156del
NM_000816.3:c.1035del	NP_000807.2:p.Phe345LeufsTer?
NM_198903.2:c.1155del	NP_944493.2:p.Phe385LeufsTer?
NM_198904.2:c.1035del	NP_944494.1:p.Phe345LeufsTer?
NM_001375339.1:c.1026del	NP_001362268.1:p.Phe342LeufsTer?
NM_001375340.1:c.923-2510del	NP_001362269.1:n.923-2510del
NM_001375341.1:c.1032del	NP_001362270.1:p.Phe344LeufsTer?
NM_001375342.1:c.1032del	NP_001362271.1:p.Phe344LeufsTer?
NM_001375343.1:c.1155del	NP_001362272.1:p.Phe385LeufsTer?
NM_001375344.1:c.1074del	NP_001362273.1:p.Phe358LeufsTer?
NM_001375345.1:c.969del	NP_001362274.1:p.Phe323LeufsTer?
NM_001375346.1:c.969del	NP_001362275.1:p.Phe323LeufsTer?
NM_001375347.1:c.948del	NP_001362276.1:p.Phe316LeufsTer?
NM_001375348.1:c.615del	NP_001362277.1:p.Phe205LeufsTer?
NM_001375349.1:c.750del	NP_001362278.1:p.Phe250LeufsTer?
NM_001375350.1:c.615del	NP_001362279.1:p.Phe205LeufsTer?
NM_198904.3:c.1035del	NP_944494.1:p.Phe345LeufsTer?
NM_198904.4:c.1035del MANE Select	NP_944494.1:p.Phe345LeufsTer?