Canonical Allele Identifier: CA362183210

Gene: GABRG2

Linked Data

• gnomAD v4: 5-162153109-T-A
• MyVariant Identifiers: chr5:g.161580115T>A (hg19) ; chr5:g.162153109T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153109T>A , CM000667.2:g.162153109T>A	GRCh38
NC_000005.9:g.161580115T>A , CM000667.1:g.161580115T>A	GRCh37
NC_000005.8:g.161512693T>A	NCBI36
NG_009290.1:g.90468T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000356592.8:c.1170T>A
ENST00000361925.9:c.1265T>A	ENSP00000354651.5:p.Ile422Asn
ENST00000523372.2:c.1228T>A
ENST00000638253.1:n.423T>A
ENST00000638552.1:c.860T>A	ENSP00000491763.1:p.Ile287Asn
ENST00000638660.1:c.884T>A	ENSP00000492869.1:p.Ile295Asn
ENST00000638772.1:c.*3766T>A	ENSP00000491557.1:n.*3766T>A
ENST00000638877.1:c.1046T>A
ENST00000639046.1:c.536T>A	ENSP00000492659.1:p.Ile179Asn
ENST00000639111.2:c.1145T>A	ENSP00000492125.2:p.Ile382Asn
ENST00000639213.2:c.1169T>A MANE Select	ENSP00000491909.2:p.Ile390Asn
ENST00000639278.1:c.1832T>A	ENSP00000491958.1:n.1832T>A
ENST00000639384.1:c.*1350T>A	ENSP00000491240.1:n.*1350T>A
ENST00000639424.1:c.*369T>A	ENSP00000491245.1:n.*369T>A
ENST00000639683.1:c.1103T>A	ENSP00000492581.1:p.Ile368Asn
ENST00000639975.1:c.1079T>A	ENSP00000492096.1:p.Ile360Asn
ENST00000640500.1:n.443T>A
ENST00000640739.1:n.6116T>A
ENST00000640910.1:c.607T>A
ENST00000640985.1:c.1082T>A	ENSP00000492293.1:p.Ile361Asn
ENST00000641017.1:c.1238T>A	ENSP00000493461.1:p.Ile413Asn
ENST00000356592.7:c.1169T>A	ENSP00000349000.3:p.Ile390Asn
ENST00000361925.8:c.1145T>A	ENSP00000354651.4:p.Ile382Asn
ENST00000414552.6:c.1289T>A	ENSP00000410732.2:p.Ile430Asn
ENST00000522990.5:c.*747T>A	ENSP00000430732.1:n.*747T>A
ENST00000523372.1:c.1266T>A	ENSP00000430124.1:n.1266T>A
NM_000816.3:c.1145T>A	NP_000807.2:p.Ile382Asn
NM_198903.2:c.1289T>A	NP_944493.2:p.Ile430Asn
NM_198904.2:c.1169T>A	NP_944494.1:p.Ile390Asn
NM_001375339.1:c.1160T>A	NP_001362268.1:p.Ile387Asn
NM_001375340.1:c.*3T>A	NP_001362269.1:n.*3T>A
NM_001375341.1:c.1166T>A	NP_001362270.1:p.Ile389Asn
NM_001375342.1:c.1142T>A	NP_001362271.1:p.Ile381Asn
NM_001375343.1:c.1265T>A	NP_001362272.1:p.Ile422Asn
NM_001375344.1:c.1208T>A	NP_001362273.1:p.Ile403Asn
NM_001375345.1:c.1079T>A	NP_001362274.1:p.Ile360Asn
NM_001375346.1:c.1103T>A	NP_001362275.1:p.Ile368Asn
NM_001375347.1:c.1082T>A	NP_001362276.1:p.Ile361Asn
NM_001375348.1:c.725T>A	NP_001362277.1:p.Ile242Asn
NM_001375349.1:c.860T>A	NP_001362278.1:p.Ile287Asn
NM_001375350.1:c.749T>A	NP_001362279.1:p.Ile250Asn
NM_198904.3:c.1169T>A	NP_944494.1:p.Ile390Asn
NM_198904.4:c.1169T>A MANE Select	NP_944494.1:p.Ile390Asn