Canonical Allele Identifier: CA362185076

Gene: GABRG2

Linked Data

• gnomAD v4: 5-162103940-A-G
• MyVariant Identifiers: chr5:g.161530946A>G (hg19) ; chr5:g.162103940A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162103940A>G , CM000667.2:g.162103940A>G	GRCh38
NC_000005.9:g.161530946A>G , CM000667.1:g.161530946A>G	GRCh37
NC_000005.8:g.161463524A>G	NCBI36
NG_009290.1:g.41299A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.645A>G
ENST00000361925.9:c.803A>G	ENSP00000354651.5:p.Glu268Gly
ENST00000522053.2:n.574A>G
ENST00000523372.2:c.766A>G
ENST00000638552.1:c.398A>G	ENSP00000491763.1:p.Glu133Gly
ENST00000638660.1:c.398A>G	ENSP00000492869.1:p.Glu133Gly
ENST00000638772.1:c.683A>G	ENSP00000491557.1:p.Glu228Gly
ENST00000638782.1:n.745A>G
ENST00000638877.1:c.560A>G
ENST00000639046.1:c.74A>G	ENSP00000492659.1:p.Glu25Gly
ENST00000639111.2:c.683A>G	ENSP00000492125.2:p.Glu228Gly
ENST00000639213.2:c.683A>G MANE Select	ENSP00000491909.2:p.Glu228Gly
ENST00000639278.1:c.611A>G	ENSP00000491958.1:p.Glu204Gly
ENST00000639384.1:c.683A>G	ENSP00000491240.1:p.Glu228Gly
ENST00000639424.1:c.107+35834A>G	ENSP00000491245.1:n.107+35834A>G
ENST00000639683.1:c.617A>G	ENSP00000492581.1:p.Glu206Gly
ENST00000639975.1:c.617A>G	ENSP00000492096.1:p.Glu206Gly
ENST00000640574.1:c.398A>G	ENSP00000491582.1:p.Glu133Gly
ENST00000640739.1:n.3214A>G
ENST00000640910.1:c.121A>G
ENST00000640985.1:c.596A>G	ENSP00000492293.1:p.Glu199Gly
ENST00000641017.1:c.683A>G	ENSP00000493461.1:p.Glu228Gly
ENST00000356592.7:c.683A>G	ENSP00000349000.3:p.Glu228Gly
ENST00000361925.8:c.683A>G	ENSP00000354651.4:p.Glu228Gly
ENST00000414552.6:c.803A>G	ENSP00000410732.2:p.Glu268Gly
ENST00000522053.1:c.398A>G	ENSP00000430182.1:p.Glu133Gly
ENST00000522990.5:c.*285A>G	ENSP00000430732.1:n.*285A>G
ENST00000523372.1:c.804A>G	ENSP00000430124.1:n.804A>G
NM_000816.3:c.683A>G	NP_000807.2:p.Glu228Gly
NM_198903.2:c.803A>G	NP_944493.2:p.Glu268Gly
NM_198904.2:c.683A>G	NP_944494.1:p.Glu228Gly
NM_001375339.1:c.674A>G	NP_001362268.1:p.Glu225Gly
NM_001375340.1:c.683A>G	NP_001362269.1:p.Glu228Gly
NM_001375341.1:c.683A>G	NP_001362270.1:p.Glu228Gly
NM_001375342.1:c.683A>G	NP_001362271.1:p.Glu228Gly
NM_001375343.1:c.803A>G	NP_001362272.1:p.Glu268Gly
NM_001375344.1:c.683A>G	NP_001362273.1:p.Glu228Gly
NM_001375345.1:c.617A>G	NP_001362274.1:p.Glu206Gly
NM_001375346.1:c.617A>G	NP_001362275.1:p.Glu206Gly
NM_001375347.1:c.596A>G	NP_001362276.1:p.Glu199Gly
NM_001375348.1:c.263A>G	NP_001362277.1:p.Glu88Gly
NM_001375349.1:c.398A>G	NP_001362278.1:p.Glu133Gly
NM_001375350.1:c.263A>G	NP_001362279.1:p.Glu88Gly
NM_198904.3:c.683A>G	NP_944494.1:p.Glu228Gly
NM_198904.4:c.683A>G MANE Select	NP_944494.1:p.Glu228Gly