Canonical Allele Identifier: CA362182593
Gene: GABRG2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.162149246G>C , CM000667.2:g.162149246G>C GRCh38
NC_000005.9:g.161576252G>C , CM000667.1:g.161576252G>C GRCh37
NC_000005.8:g.161508830G>C NCBI36
NG_009290.1:g.86605G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356592.8:c.1062G>C
ENST00000361925.9:c.1181G>C ENSP00000354651.5:p.Gly394Ala
ENST00000523372.2:c.1144G>C
ENST00000638253.1:n.315G>C
ENST00000638552.1:c.776G>C ENSP00000491763.1:p.Gly259Ala
ENST00000638660.1:c.776G>C ENSP00000492869.1:p.Gly259Ala
ENST00000638772.1:c.1061G>C ENSP00000491557.1:p.Gly354Ala
ENST00000638877.1:c.938G>C
ENST00000639046.1:c.452G>C ENSP00000492659.1:p.Gly151Ala
ENST00000639111.2:c.1061G>C ENSP00000492125.2:p.Gly354Ala
ENST00000639213.2:c.1061G>C MANE Select ENSP00000491909.2:p.Gly354Ala
ENST00000639278.1:c.989G>C ENSP00000491958.1:p.Gly330Ala
ENST00000639384.1:c.1061G>C ENSP00000491240.1:p.Gly354Ala
ENST00000639424.1:c.*261G>C ENSP00000491245.1:n.*261G>C
ENST00000639683.1:c.995G>C ENSP00000492581.1:p.Gly332Ala
ENST00000639975.1:c.995G>C ENSP00000492096.1:p.Gly332Ala
ENST00000640500.1:n.359G>C
ENST00000640574.1:c.776G>C ENSP00000491582.1:p.Gly259Ala
ENST00000640739.1:n.3592G>C
ENST00000640910.1:c.499G>C
ENST00000640985.1:c.974G>C ENSP00000492293.1:p.Gly325Ala
ENST00000641017.1:c.1061G>C ENSP00000493461.1:p.Gly354Ala
ENST00000356592.7:c.1061G>C ENSP00000349000.3:p.Gly354Ala
ENST00000361925.8:c.1061G>C ENSP00000354651.4:p.Gly354Ala
ENST00000414552.6:c.1181G>C ENSP00000410732.2:p.Gly394Ala
ENST00000522990.5:c.*663G>C ENSP00000430732.1:n.*663G>C
ENST00000523372.1:c.1182G>C ENSP00000430124.1:n.1182G>C
NM_000816.3:c.1061G>C NP_000807.2:p.Gly354Ala
NM_198903.2:c.1181G>C NP_944493.2:p.Gly394Ala
NM_198904.2:c.1061G>C NP_944494.1:p.Gly354Ala
NM_001375339.1:c.1052G>C NP_001362268.1:p.Gly351Ala
NM_001375340.1:c.923-2484G>C NP_001362269.1:n.923-2484G>C
NM_001375341.1:c.1058G>C NP_001362270.1:p.Gly353Ala
NM_001375342.1:c.1058G>C NP_001362271.1:p.Gly353Ala
NM_001375343.1:c.1181G>C NP_001362272.1:p.Gly394Ala
NM_001375344.1:c.1100G>C NP_001362273.1:p.Gly367Ala
NM_001375345.1:c.995G>C NP_001362274.1:p.Gly332Ala
NM_001375346.1:c.995G>C NP_001362275.1:p.Gly332Ala
NM_001375347.1:c.974G>C NP_001362276.1:p.Gly325Ala
NM_001375348.1:c.641G>C NP_001362277.1:p.Gly214Ala
NM_001375349.1:c.776G>C NP_001362278.1:p.Gly259Ala
NM_001375350.1:c.641G>C NP_001362279.1:p.Gly214Ala
NM_198904.3:c.1061G>C NP_944494.1:p.Gly354Ala
NM_198904.4:c.1061G>C MANE Select NP_944494.1:p.Gly354Ala