Canonical Allele Identifier: CA2695205686

Gene: GABRG2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162149210_162149213del , CM000667.2:g.162149210_162149213del	GRCh38
NC_000005.9:g.161576216_161576219del , CM000667.1:g.161576216_161576219del	GRCh37
NC_000005.8:g.161508794_161508797del	NCBI36
NG_009290.1:g.86569_86572del

Transcript Alleles

HGVS	Amino-acid change
ENST00000356592.8:c.1026_1029del
ENST00000361925.9:c.1145_1148del	ENSP00000354651.5:p.Cys382SerfsTer?
ENST00000523372.2:c.1108_1111del
ENST00000638253.1:n.279_282del
ENST00000638552.1:c.740_743del	ENSP00000491763.1:p.Cys247SerfsTer?
ENST00000638660.1:c.740_743del	ENSP00000492869.1:p.Cys247SerfsTer?
ENST00000638772.1:c.1025_1028del	ENSP00000491557.1:p.Cys342SerfsTer?
ENST00000638877.1:c.902_905del
ENST00000639046.1:c.416_419del	ENSP00000492659.1:p.Cys139SerfsTer?
ENST00000639111.2:c.1025_1028del	ENSP00000492125.2:p.Cys342SerfsTer?
ENST00000639213.2:c.1025_1028del MANE Select	ENSP00000491909.2:p.Cys342SerfsTer?
ENST00000639278.1:c.953_956del	ENSP00000491958.1:p.Cys318SerfsTer?
ENST00000639384.1:c.1025_1028del	ENSP00000491240.1:p.Cys342SerfsTer?
ENST00000639424.1:c.*225_*228del	ENSP00000491245.1:n.*225_*228del
ENST00000639683.1:c.959_962del	ENSP00000492581.1:p.Cys320SerfsTer?
ENST00000639975.1:c.959_962del	ENSP00000492096.1:p.Cys320SerfsTer?
ENST00000640500.1:n.323_326del
ENST00000640574.1:c.740_743del	ENSP00000491582.1:p.Cys247SerfsTer?
ENST00000640739.1:n.3556_3559del
ENST00000640910.1:c.463_466del
ENST00000640985.1:c.938_941del	ENSP00000492293.1:p.Cys313SerfsTer?
ENST00000641017.1:c.1025_1028del	ENSP00000493461.1:p.Cys342SerfsTer?
ENST00000356592.7:c.1025_1028del	ENSP00000349000.3:p.Cys342SerfsTer?
ENST00000361925.8:c.1025_1028del	ENSP00000354651.4:p.Cys342SerfsTer?
ENST00000414552.6:c.1145_1148del	ENSP00000410732.2:p.Cys382SerfsTer?
ENST00000522990.5:c.*627_*630del	ENSP00000430732.1:n.*627_*630del
ENST00000523372.1:c.1146_1149del	ENSP00000430124.1:n.1146_1149del
NM_000816.3:c.1025_1028del	NP_000807.2:p.Cys342SerfsTer?
NM_198903.2:c.1145_1148del	NP_944493.2:p.Cys382SerfsTer?
NM_198904.2:c.1025_1028del	NP_944494.1:p.Cys342SerfsTer?
NM_001375339.1:c.1016_1019del	NP_001362268.1:p.Cys339SerfsTer?
NM_001375340.1:c.923-2520_923-2517del	NP_001362269.1:n.923-2520_923-2517del
NM_001375341.1:c.1022_1025del	NP_001362270.1:p.Cys341SerfsTer?
NM_001375342.1:c.1022_1025del	NP_001362271.1:p.Cys341SerfsTer?
NM_001375343.1:c.1145_1148del	NP_001362272.1:p.Cys382SerfsTer?
NM_001375344.1:c.1064_1067del	NP_001362273.1:p.Cys355SerfsTer?
NM_001375345.1:c.959_962del	NP_001362274.1:p.Cys320SerfsTer?
NM_001375346.1:c.959_962del	NP_001362275.1:p.Cys320SerfsTer?
NM_001375347.1:c.938_941del	NP_001362276.1:p.Cys313SerfsTer?
NM_001375348.1:c.605_608del	NP_001362277.1:p.Cys202SerfsTer?
NM_001375349.1:c.740_743del	NP_001362278.1:p.Cys247SerfsTer?
NM_001375350.1:c.605_608del	NP_001362279.1:p.Cys202SerfsTer?
NM_198904.3:c.1025_1028del	NP_944494.1:p.Cys342SerfsTer?
NM_198904.4:c.1025_1028del MANE Select	NP_944494.1:p.Cys342SerfsTer?