Canonical Allele Identifier: CA362184039

Gene: GABRG2

Linked Data

• MyVariant Identifiers: chr5:g.161580322C>A (hg19) ; chr5:g.162153316C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153316C>A , CM000667.2:g.162153316C>A	GRCh38
NC_000005.9:g.161580322C>A , CM000667.1:g.161580322C>A	GRCh37
NC_000005.8:g.161512900C>A	NCBI36
NG_009290.1:g.90675C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1377C>A
ENST00000361925.9:c.1472C>A	ENSP00000354651.5:p.Thr491Asn
ENST00000523372.2:c.1435C>A
ENST00000638253.1:n.630C>A
ENST00000638552.1:c.1067C>A	ENSP00000491763.1:p.Thr356Asn
ENST00000638660.1:c.1091C>A	ENSP00000492869.1:p.Thr364Asn
ENST00000638772.1:c.*3973C>A	ENSP00000491557.1:n.*3973C>A
ENST00000638877.1:c.1253C>A
ENST00000639046.1:c.743C>A	ENSP00000492659.1:p.Thr248Asn
ENST00000639111.2:c.1352C>A	ENSP00000492125.2:p.Thr451Asn
ENST00000639213.2:c.1376C>A MANE Select	ENSP00000491909.2:p.Thr459Asn
ENST00000639278.1:c.2039C>A	ENSP00000491958.1:n.2039C>A
ENST00000639384.1:c.*1557C>A	ENSP00000491240.1:n.*1557C>A
ENST00000639424.1:c.*576C>A	ENSP00000491245.1:n.*576C>A
ENST00000639683.1:c.1310C>A	ENSP00000492581.1:p.Thr437Asn
ENST00000639975.1:c.1286C>A	ENSP00000492096.1:p.Thr429Asn
ENST00000640500.1:n.650C>A
ENST00000640739.1:n.6323C>A
ENST00000640910.1:c.814C>A
ENST00000640985.1:c.1289C>A	ENSP00000492293.1:p.Thr430Asn
ENST00000641017.1:c.1445C>A	ENSP00000493461.1:p.Thr482Asn
ENST00000356592.7:c.1376C>A	ENSP00000349000.3:p.Thr459Asn
ENST00000361925.8:c.1352C>A	ENSP00000354651.4:p.Thr451Asn
ENST00000414552.6:c.1496C>A	ENSP00000410732.2:p.Thr499Asn
ENST00000522990.5:c.*954C>A	ENSP00000430732.1:n.*954C>A
ENST00000523372.1:c.1473C>A	ENSP00000430124.1:n.1473C>A
NM_000816.3:c.1352C>A	NP_000807.2:p.Thr451Asn
NM_198903.2:c.1496C>A	NP_944493.2:p.Thr499Asn
NM_198904.2:c.1376C>A	NP_944494.1:p.Thr459Asn
NM_001375339.1:c.1367C>A	NP_001362268.1:p.Thr456Asn
NM_001375340.1:c.*210C>A	NP_001362269.1:n.*210C>A
NM_001375341.1:c.1373C>A	NP_001362270.1:p.Thr458Asn
NM_001375342.1:c.1349C>A	NP_001362271.1:p.Thr450Asn
NM_001375343.1:c.1472C>A	NP_001362272.1:p.Thr491Asn
NM_001375344.1:c.1415C>A	NP_001362273.1:p.Thr472Asn
NM_001375345.1:c.1286C>A	NP_001362274.1:p.Thr429Asn
NM_001375346.1:c.1310C>A	NP_001362275.1:p.Thr437Asn
NM_001375347.1:c.1289C>A	NP_001362276.1:p.Thr430Asn
NM_001375348.1:c.932C>A	NP_001362277.1:p.Thr311Asn
NM_001375349.1:c.1067C>A	NP_001362278.1:p.Thr356Asn
NM_001375350.1:c.956C>A	NP_001362279.1:p.Thr319Asn
NM_198904.3:c.1376C>A	NP_944494.1:p.Thr459Asn
NM_198904.4:c.1376C>A MANE Select	NP_944494.1:p.Thr459Asn