Canonical Allele Identifier: CA126265
Gene: GABRG2 HGNC NCBI

Linked Data

ClinVar Variation Id: 16207
ClinVar RCV Id: RCV000017591
dbSNP Id: rs121909672

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.162149168A>T , CM000667.2:g.162149168A>T GRCh38
NC_000005.9:g.161576174A>T , CM000667.1:g.161576174A>T GRCh37
NC_000005.8:g.161508752A>T NCBI36
NG_009290.1:g.86527A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000356592.8:c.984A>T
ENST00000361925.9:c.1103A>T ENSP00000354651.5:p.Lys368Met
ENST00000523372.2:c.1066A>T
ENST00000638253.1:n.237A>T
ENST00000638552.1:c.698A>T ENSP00000491763.1:p.Lys233Met
ENST00000638660.1:c.698A>T ENSP00000492869.1:p.Lys233Met
ENST00000638772.1:c.983A>T ENSP00000491557.1:p.Lys328Met
ENST00000638877.1:c.860A>T
ENST00000639046.1:c.374A>T ENSP00000492659.1:p.Lys125Met
ENST00000639111.2:c.983A>T ENSP00000492125.2:p.Lys328Met
ENST00000639213.2:c.983A>T MANE Select ENSP00000491909.2:p.Lys328Met
ENST00000639278.1:c.911A>T ENSP00000491958.1:p.Lys304Met
ENST00000639384.1:c.983A>T ENSP00000491240.1:p.Lys328Met
ENST00000639424.1:c.*183A>T ENSP00000491245.1:n.*183A>T
ENST00000639683.1:c.917A>T ENSP00000492581.1:p.Lys306Met
ENST00000639975.1:c.917A>T ENSP00000492096.1:p.Lys306Met
ENST00000640500.1:n.281A>T
ENST00000640574.1:c.698A>T ENSP00000491582.1:p.Lys233Met
ENST00000640739.1:n.3514A>T
ENST00000640910.1:c.421A>T
ENST00000640985.1:c.896A>T ENSP00000492293.1:p.Lys299Met
ENST00000641017.1:c.983A>T ENSP00000493461.1:p.Lys328Met
ENST00000356592.7:c.983A>T ENSP00000349000.3:p.Lys328Met
ENST00000361925.8:c.983A>T ENSP00000354651.4:p.Lys328Met
ENST00000414552.6:c.1103A>T ENSP00000410732.2:p.Lys368Met
ENST00000522990.5:c.*585A>T ENSP00000430732.1:n.*585A>T
ENST00000523372.1:c.1104A>T ENSP00000430124.1:n.1104A>T
NM_000816.3:c.983A>T NP_000807.2:p.Lys328Met
NM_198903.2:c.1103A>T NP_944493.2:p.Lys368Met
NM_198904.2:c.983A>T NP_944494.1:p.Lys328Met
NM_001375339.1:c.974A>T NP_001362268.1:p.Lys325Met
NM_001375340.1:c.923-2562A>T NP_001362269.1:n.923-2562A>T
NM_001375341.1:c.980A>T NP_001362270.1:p.Lys327Met
NM_001375342.1:c.980A>T NP_001362271.1:p.Lys327Met
NM_001375343.1:c.1103A>T NP_001362272.1:p.Lys368Met
NM_001375344.1:c.1022A>T NP_001362273.1:p.Lys341Met
NM_001375345.1:c.917A>T NP_001362274.1:p.Lys306Met
NM_001375346.1:c.917A>T NP_001362275.1:p.Lys306Met
NM_001375347.1:c.896A>T NP_001362276.1:p.Lys299Met
NM_001375348.1:c.563A>T NP_001362277.1:p.Lys188Met
NM_001375349.1:c.698A>T NP_001362278.1:p.Lys233Met
NM_001375350.1:c.563A>T NP_001362279.1:p.Lys188Met
NM_198904.3:c.983A>T NP_944494.1:p.Lys328Met
NM_198904.4:c.983A>T MANE Select NP_944494.1:p.Lys328Met