Canonical Allele Identifier: CA314775
Gene: GABRG2 HGNC NCBI

Linked Data

ClinVar Variation Id: 205564
dbSNP Id: rs780199000

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.162149273G>A , CM000667.2:g.162149273G>A GRCh38
NC_000005.9:g.161576279G>A , CM000667.1:g.161576279G>A GRCh37
NC_000005.8:g.161508857G>A NCBI36
NG_009290.1:g.86632G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000356592.8:c.1089G>A
ENST00000361925.9:c.1208G>A ENSP00000354651.5:p.Arg403Gln
ENST00000523372.2:c.1171G>A
ENST00000638253.1:n.342G>A
ENST00000638552.1:c.803G>A ENSP00000491763.1:p.Arg268Gln
ENST00000638660.1:c.803G>A ENSP00000492869.1:p.Arg268Gln
ENST00000638772.1:c.1088G>A ENSP00000491557.1:p.Arg363Gln
ENST00000638877.1:c.965G>A
ENST00000639046.1:c.479G>A ENSP00000492659.1:p.Arg160Gln
ENST00000639111.2:c.1088G>A ENSP00000492125.2:p.Arg363Gln
ENST00000639213.2:c.1088G>A MANE Select ENSP00000491909.2:p.Arg363Gln
ENST00000639278.1:c.1016G>A ENSP00000491958.1:p.Arg339Gln
ENST00000639384.1:c.1088G>A ENSP00000491240.1:p.Arg363Gln
ENST00000639424.1:c.*288G>A ENSP00000491245.1:n.*288G>A
ENST00000639683.1:c.1022G>A ENSP00000492581.1:p.Arg341Gln
ENST00000639975.1:c.1022G>A ENSP00000492096.1:p.Arg341Gln
ENST00000640500.1:n.386G>A
ENST00000640574.1:c.803G>A ENSP00000491582.1:p.Arg268Gln
ENST00000640739.1:n.3619G>A
ENST00000640910.1:c.526G>A
ENST00000640985.1:c.1001G>A ENSP00000492293.1:p.Arg334Gln
ENST00000641017.1:c.1088G>A ENSP00000493461.1:p.Arg363Gln
ENST00000356592.7:c.1088G>A ENSP00000349000.3:p.Arg363Gln
ENST00000361925.8:c.1088G>A ENSP00000354651.4:p.Arg363Gln
ENST00000414552.6:c.1208G>A ENSP00000410732.2:p.Arg403Gln
ENST00000522990.5:c.*690G>A ENSP00000430732.1:n.*690G>A
ENST00000523372.1:c.1209G>A ENSP00000430124.1:n.1209G>A
NM_000816.3:c.1088G>A NP_000807.2:p.Arg363Gln
NM_198903.2:c.1208G>A NP_944493.2:p.Arg403Gln
NM_198904.2:c.1088G>A NP_944494.1:p.Arg363Gln
NM_001375339.1:c.1079G>A NP_001362268.1:p.Arg360Gln
NM_001375340.1:c.923-2457G>A NP_001362269.1:n.923-2457G>A
NM_001375341.1:c.1085G>A NP_001362270.1:p.Arg362Gln
NM_001375342.1:c.1085G>A NP_001362271.1:p.Arg362Gln
NM_001375343.1:c.1208G>A NP_001362272.1:p.Arg403Gln
NM_001375344.1:c.1127G>A NP_001362273.1:p.Arg376Gln
NM_001375345.1:c.1022G>A NP_001362274.1:p.Arg341Gln
NM_001375346.1:c.1022G>A NP_001362275.1:p.Arg341Gln
NM_001375347.1:c.1001G>A NP_001362276.1:p.Arg334Gln
NM_001375348.1:c.668G>A NP_001362277.1:p.Arg223Gln
NM_001375349.1:c.803G>A NP_001362278.1:p.Arg268Gln
NM_001375350.1:c.668G>A NP_001362279.1:p.Arg223Gln
NM_198904.3:c.1088G>A NP_944494.1:p.Arg363Gln
NM_198904.4:c.1088G>A MANE Select NP_944494.1:p.Arg363Gln