Canonical Allele Identifier: CA1596380254
Gene: GABRG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.162149181C= , CM000667.2:g.162149181C= GRCh38
NC_000005.9:g.161576187C= , CM000667.1:g.161576187C= GRCh37
NC_000005.8:g.161508765C= NCBI36
NG_009290.1:g.86540C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356592.8:c.997C=
ENST00000361925.9:c.1116C= ENSP00000354651.5:p.Val372=
ENST00000523372.2:c.1079C=
ENST00000638253.1:n.250C=
ENST00000638552.1:c.711C= ENSP00000491763.1:p.Val237=
ENST00000638660.1:c.711C= ENSP00000492869.1:p.Val237=
ENST00000638772.1:c.996C= ENSP00000491557.1:p.Val332=
ENST00000638877.1:c.873C=
ENST00000639046.1:c.387C= ENSP00000492659.1:p.Val129=
ENST00000639111.2:c.996C= ENSP00000492125.2:p.Val332=
ENST00000639213.2:c.996C= MANE Select ENSP00000491909.2:p.Val332=
ENST00000639278.1:c.924C= ENSP00000491958.1:p.Val308=
ENST00000639384.1:c.996C= ENSP00000491240.1:p.Val332=
ENST00000639424.1:c.*196C= ENSP00000491245.1:n.*196C=
ENST00000639683.1:c.930C= ENSP00000492581.1:p.Val310=
ENST00000639975.1:c.930C= ENSP00000492096.1:p.Val310=
ENST00000640500.1:n.294C=
ENST00000640574.1:c.711C= ENSP00000491582.1:p.Val237=
ENST00000640739.1:n.3527C=
ENST00000640910.1:c.434C=
ENST00000640985.1:c.909C= ENSP00000492293.1:p.Val303=
ENST00000641017.1:c.996C= ENSP00000493461.1:p.Val332=
ENST00000356592.7:c.996C= ENSP00000349000.3:p.Val332=
ENST00000361925.8:c.996C= ENSP00000354651.4:p.Val332=
ENST00000414552.6:c.1116C= ENSP00000410732.2:p.Val372=
ENST00000522990.5:c.*598C= ENSP00000430732.1:n.*598C=
ENST00000523372.1:c.1117C= ENSP00000430124.1:n.1117C=
NM_000816.3:c.996C= NP_000807.2:p.Val332=
NM_198903.2:c.1116C= NP_944493.2:p.Val372=
NM_198904.2:c.996C= NP_944494.1:p.Val332=
NM_001375339.1:c.987C= NP_001362268.1:p.Val329=
NM_001375340.1:c.923-2549C= NP_001362269.1:n.923-2549C=
NM_001375341.1:c.993C= NP_001362270.1:p.Val331=
NM_001375342.1:c.993C= NP_001362271.1:p.Val331=
NM_001375343.1:c.1116C= NP_001362272.1:p.Val372=
NM_001375344.1:c.1035C= NP_001362273.1:p.Val345=
NM_001375345.1:c.930C= NP_001362274.1:p.Val310=
NM_001375346.1:c.930C= NP_001362275.1:p.Val310=
NM_001375347.1:c.909C= NP_001362276.1:p.Val303=
NM_001375348.1:c.576C= NP_001362277.1:p.Val192=
NM_001375349.1:c.711C= NP_001362278.1:p.Val237=
NM_001375350.1:c.576C= NP_001362279.1:p.Val192=
NM_198904.3:c.996C= NP_944494.1:p.Val332=
NM_198904.4:c.996C= MANE Select NP_944494.1:p.Val332=