Canonical Allele Identifier: CA362183876
Gene: GABRG2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.162153280C>G , CM000667.2:g.162153280C>G GRCh38
NC_000005.9:g.161580286C>G , CM000667.1:g.161580286C>G GRCh37
NC_000005.8:g.161512864C>G NCBI36
NG_009290.1:g.90639C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356592.8:c.1341C>G
ENST00000361925.9:c.1436C>G ENSP00000354651.5:p.Ala479Gly
ENST00000523372.2:c.1399C>G
ENST00000638253.1:n.594C>G
ENST00000638552.1:c.1031C>G ENSP00000491763.1:p.Ala344Gly
ENST00000638660.1:c.1055C>G ENSP00000492869.1:p.Ala352Gly
ENST00000638772.1:c.*3937C>G ENSP00000491557.1:n.*3937C>G
ENST00000638877.1:c.1217C>G
ENST00000639046.1:c.707C>G ENSP00000492659.1:p.Ala236Gly
ENST00000639111.2:c.1316C>G ENSP00000492125.2:p.Ala439Gly
ENST00000639213.2:c.1340C>G MANE Select ENSP00000491909.2:p.Ala447Gly
ENST00000639278.1:c.2003C>G ENSP00000491958.1:n.2003C>G
ENST00000639384.1:c.*1521C>G ENSP00000491240.1:n.*1521C>G
ENST00000639424.1:c.*540C>G ENSP00000491245.1:n.*540C>G
ENST00000639683.1:c.1274C>G ENSP00000492581.1:p.Ala425Gly
ENST00000639975.1:c.1250C>G ENSP00000492096.1:p.Ala417Gly
ENST00000640500.1:n.614C>G
ENST00000640739.1:n.6287C>G
ENST00000640910.1:c.778C>G
ENST00000640985.1:c.1253C>G ENSP00000492293.1:p.Ala418Gly
ENST00000641017.1:c.1409C>G ENSP00000493461.1:p.Ala470Gly
ENST00000356592.7:c.1340C>G ENSP00000349000.3:p.Ala447Gly
ENST00000361925.8:c.1316C>G ENSP00000354651.4:p.Ala439Gly
ENST00000414552.6:c.1460C>G ENSP00000410732.2:p.Ala487Gly
ENST00000522990.5:c.*918C>G ENSP00000430732.1:n.*918C>G
ENST00000523372.1:c.1437C>G ENSP00000430124.1:n.1437C>G
NM_000816.3:c.1316C>G NP_000807.2:p.Ala439Gly
NM_198903.2:c.1460C>G NP_944493.2:p.Ala487Gly
NM_198904.2:c.1340C>G NP_944494.1:p.Ala447Gly
NM_001375339.1:c.1331C>G NP_001362268.1:p.Ala444Gly
NM_001375340.1:c.*174C>G NP_001362269.1:n.*174C>G
NM_001375341.1:c.1337C>G NP_001362270.1:p.Ala446Gly
NM_001375342.1:c.1313C>G NP_001362271.1:p.Ala438Gly
NM_001375343.1:c.1436C>G NP_001362272.1:p.Ala479Gly
NM_001375344.1:c.1379C>G NP_001362273.1:p.Ala460Gly
NM_001375345.1:c.1250C>G NP_001362274.1:p.Ala417Gly
NM_001375346.1:c.1274C>G NP_001362275.1:p.Ala425Gly
NM_001375347.1:c.1253C>G NP_001362276.1:p.Ala418Gly
NM_001375348.1:c.896C>G NP_001362277.1:p.Ala299Gly
NM_001375349.1:c.1031C>G NP_001362278.1:p.Ala344Gly
NM_001375350.1:c.920C>G NP_001362279.1:p.Ala307Gly
NM_198904.3:c.1340C>G NP_944494.1:p.Ala447Gly
NM_198904.4:c.1340C>G MANE Select NP_944494.1:p.Ala447Gly