Canonical Allele Identifier: CA16611898
Gene: GABRG2 HGNC NCBI

Linked Data

ClinVar Variation Id: 408213
ClinVar RCV Id: RCV000462535
dbSNP Id: rs1060501889

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000356592.8:c.1026del
ENST00000361925.9:c.1145del ENSP00000354651.5:p.Cys382PhefsTer?
ENST00000523372.2:c.1108del
ENST00000638253.1:n.279del
ENST00000638552.1:c.740del ENSP00000491763.1:p.Cys247PhefsTer?
ENST00000638660.1:c.740del ENSP00000492869.1:p.Cys247PhefsTer?
ENST00000638772.1:c.1025del ENSP00000491557.1:p.Cys342PhefsTer?
ENST00000638877.1:c.902del
ENST00000639046.1:c.416del ENSP00000492659.1:p.Cys139PhefsTer?
ENST00000639111.2:c.1025del ENSP00000492125.2:p.Cys342PhefsTer?
ENST00000639213.2:c.1025del MANE Select ENSP00000491909.2:p.Cys342PhefsTer?
ENST00000639278.1:c.953del ENSP00000491958.1:p.Cys318PhefsTer?
ENST00000639384.1:c.1025del ENSP00000491240.1:p.Cys342PhefsTer?
ENST00000639424.1:c.*225del ENSP00000491245.1:n.*225del
ENST00000639683.1:c.959del ENSP00000492581.1:p.Cys320PhefsTer?
ENST00000639975.1:c.959del ENSP00000492096.1:p.Cys320PhefsTer?
ENST00000640500.1:n.323del
ENST00000640574.1:c.740del ENSP00000491582.1:p.Cys247PhefsTer?
ENST00000640739.1:n.3556del
ENST00000640910.1:c.463del
ENST00000640985.1:c.938del ENSP00000492293.1:p.Cys313PhefsTer?
ENST00000641017.1:c.1025del ENSP00000493461.1:p.Cys342PhefsTer?
ENST00000356592.7:c.1025del ENSP00000349000.3:p.Cys342PhefsTer?
ENST00000361925.8:c.1025del ENSP00000354651.4:p.Cys342PhefsTer?
ENST00000414552.6:c.1145del ENSP00000410732.2:p.Cys382PhefsTer?
ENST00000522990.5:c.*627del ENSP00000430732.1:n.*627del
ENST00000523372.1:c.1146del ENSP00000430124.1:n.1146del
NM_000816.3:c.1025del NP_000807.2:p.Cys342PhefsTer?
NM_198903.2:c.1145del NP_944493.2:p.Cys382PhefsTer?
NM_198904.2:c.1025del NP_944494.1:p.Cys342PhefsTer?
NM_001375339.1:c.1016del NP_001362268.1:p.Cys339PhefsTer?
NM_001375340.1:c.923-2520del NP_001362269.1:n.923-2520del
NM_001375341.1:c.1022del NP_001362270.1:p.Cys341PhefsTer?
NM_001375342.1:c.1022del NP_001362271.1:p.Cys341PhefsTer?
NM_001375343.1:c.1145del NP_001362272.1:p.Cys382PhefsTer?
NM_001375344.1:c.1064del NP_001362273.1:p.Cys355PhefsTer?
NM_001375345.1:c.959del NP_001362274.1:p.Cys320PhefsTer?
NM_001375346.1:c.959del NP_001362275.1:p.Cys320PhefsTer?
NM_001375347.1:c.938del NP_001362276.1:p.Cys313PhefsTer?
NM_001375348.1:c.605del NP_001362277.1:p.Cys202PhefsTer?
NM_001375349.1:c.740del NP_001362278.1:p.Cys247PhefsTer?
NM_001375350.1:c.605del NP_001362279.1:p.Cys202PhefsTer?
NM_198904.3:c.1025del NP_944494.1:p.Cys342PhefsTer?
NM_198904.4:c.1025del MANE Select NP_944494.1:p.Cys342PhefsTer?