Canonical Allele Identifier: CA447691480

Gene: GABRG2

Linked Data

• gnomAD v4: 5-162153101-C-A
• MyVariant Identifiers: chr5:g.161580107C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153101C>A , CM000667.2:g.162153101C>A	GRCh38
NC_000005.9:g.161580107C>A , CM000667.1:g.161580107C>A	GRCh37
NC_000005.8:g.161512685C>A	NCBI36
NG_009290.1:g.90460C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000356592.8:c.1162C>A
ENST00000361925.9:c.1257C>A	ENSP00000354651.5:p.Thr419=
ENST00000523372.2:c.1220C>A
ENST00000638253.1:n.415C>A
ENST00000638552.1:c.852C>A	ENSP00000491763.1:p.Thr284=
ENST00000638660.1:c.876C>A	ENSP00000492869.1:p.Thr292=
ENST00000638772.1:c.*3758C>A	ENSP00000491557.1:n.*3758C>A
ENST00000638877.1:c.1038C>A
ENST00000639046.1:c.528C>A	ENSP00000492659.1:p.Thr176=
ENST00000639111.2:c.1137C>A	ENSP00000492125.2:p.Thr379=
ENST00000639213.2:c.1161C>A MANE Select	ENSP00000491909.2:p.Thr387=
ENST00000639278.1:c.1824C>A	ENSP00000491958.1:n.1824C>A
ENST00000639384.1:c.*1342C>A	ENSP00000491240.1:n.*1342C>A
ENST00000639424.1:c.*361C>A	ENSP00000491245.1:n.*361C>A
ENST00000639683.1:c.1095C>A	ENSP00000492581.1:p.Thr365=
ENST00000639975.1:c.1071C>A	ENSP00000492096.1:p.Thr357=
ENST00000640500.1:n.435C>A
ENST00000640739.1:n.6108C>A
ENST00000640910.1:c.599C>A
ENST00000640985.1:c.1074C>A	ENSP00000492293.1:p.Thr358=
ENST00000641017.1:c.1230C>A	ENSP00000493461.1:p.Thr410=
ENST00000356592.7:c.1161C>A	ENSP00000349000.3:p.Thr387=
ENST00000361925.8:c.1137C>A	ENSP00000354651.4:p.Thr379=
ENST00000414552.6:c.1281C>A	ENSP00000410732.2:p.Thr427=
ENST00000522990.5:c.*739C>A	ENSP00000430732.1:n.*739C>A
ENST00000523372.1:c.1258C>A	ENSP00000430124.1:n.1258C>A
NM_000816.3:c.1137C>A	NP_000807.2:p.Thr379=
NM_198903.2:c.1281C>A	NP_944493.2:p.Thr427=
NM_198904.2:c.1161C>A	NP_944494.1:p.Thr387=
NM_001375339.1:c.1152C>A	NP_001362268.1:p.Thr384=
NM_001375340.1:c.955C>A	NP_001362269.1:p.His319Asn
NM_001375341.1:c.1158C>A	NP_001362270.1:p.Thr386=
NM_001375342.1:c.1134C>A	NP_001362271.1:p.Thr378=
NM_001375343.1:c.1257C>A	NP_001362272.1:p.Thr419=
NM_001375344.1:c.1200C>A	NP_001362273.1:p.Thr400=
NM_001375345.1:c.1071C>A	NP_001362274.1:p.Thr357=
NM_001375346.1:c.1095C>A	NP_001362275.1:p.Thr365=
NM_001375347.1:c.1074C>A	NP_001362276.1:p.Thr358=
NM_001375348.1:c.717C>A	NP_001362277.1:p.Thr239=
NM_001375349.1:c.852C>A	NP_001362278.1:p.Thr284=
NM_001375350.1:c.741C>A	NP_001362279.1:p.Thr247=
NM_198904.3:c.1161C>A	NP_944494.1:p.Thr387=
NM_198904.4:c.1161C>A MANE Select	NP_944494.1:p.Thr387=