Canonical Allele Identifier: CA362183832

Gene: GABRG2

Linked Data

• MyVariant Identifiers: chr5:g.161580274A>T (hg19) ; chr5:g.162153268A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153268A>T , CM000667.2:g.162153268A>T	GRCh38
NC_000005.9:g.161580274A>T , CM000667.1:g.161580274A>T	GRCh37
NC_000005.8:g.161512852A>T	NCBI36
NG_009290.1:g.90627A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1329A>T
ENST00000361925.9:c.1424A>T	ENSP00000354651.5:p.His475Leu
ENST00000523372.2:c.1387A>T
ENST00000638253.1:n.582A>T
ENST00000638552.1:c.1019A>T	ENSP00000491763.1:p.His340Leu
ENST00000638660.1:c.1043A>T	ENSP00000492869.1:p.His348Leu
ENST00000638772.1:c.*3925A>T	ENSP00000491557.1:n.*3925A>T
ENST00000638877.1:c.1205A>T
ENST00000639046.1:c.695A>T	ENSP00000492659.1:p.His232Leu
ENST00000639111.2:c.1304A>T	ENSP00000492125.2:p.His435Leu
ENST00000639213.2:c.1328A>T MANE Select	ENSP00000491909.2:p.His443Leu
ENST00000639278.1:c.1991A>T	ENSP00000491958.1:n.1991A>T
ENST00000639384.1:c.*1509A>T	ENSP00000491240.1:n.*1509A>T
ENST00000639424.1:c.*528A>T	ENSP00000491245.1:n.*528A>T
ENST00000639683.1:c.1262A>T	ENSP00000492581.1:p.His421Leu
ENST00000639975.1:c.1238A>T	ENSP00000492096.1:p.His413Leu
ENST00000640500.1:n.602A>T
ENST00000640739.1:n.6275A>T
ENST00000640910.1:c.766A>T
ENST00000640985.1:c.1241A>T	ENSP00000492293.1:p.His414Leu
ENST00000641017.1:c.1397A>T	ENSP00000493461.1:p.His466Leu
ENST00000356592.7:c.1328A>T	ENSP00000349000.3:p.His443Leu
ENST00000361925.8:c.1304A>T	ENSP00000354651.4:p.His435Leu
ENST00000414552.6:c.1448A>T	ENSP00000410732.2:p.His483Leu
ENST00000522990.5:c.*906A>T	ENSP00000430732.1:n.*906A>T
ENST00000523372.1:c.1425A>T	ENSP00000430124.1:n.1425A>T
NM_000816.3:c.1304A>T	NP_000807.2:p.His435Leu
NM_198903.2:c.1448A>T	NP_944493.2:p.His483Leu
NM_198904.2:c.1328A>T	NP_944494.1:p.His443Leu
NM_001375339.1:c.1319A>T	NP_001362268.1:p.His440Leu
NM_001375340.1:c.*162A>T	NP_001362269.1:n.*162A>T
NM_001375341.1:c.1325A>T	NP_001362270.1:p.His442Leu
NM_001375342.1:c.1301A>T	NP_001362271.1:p.His434Leu
NM_001375343.1:c.1424A>T	NP_001362272.1:p.His475Leu
NM_001375344.1:c.1367A>T	NP_001362273.1:p.His456Leu
NM_001375345.1:c.1238A>T	NP_001362274.1:p.His413Leu
NM_001375346.1:c.1262A>T	NP_001362275.1:p.His421Leu
NM_001375347.1:c.1241A>T	NP_001362276.1:p.His414Leu
NM_001375348.1:c.884A>T	NP_001362277.1:p.His295Leu
NM_001375349.1:c.1019A>T	NP_001362278.1:p.His340Leu
NM_001375350.1:c.908A>T	NP_001362279.1:p.His303Leu
NM_198904.3:c.1328A>T	NP_944494.1:p.His443Leu
NM_198904.4:c.1328A>T MANE Select	NP_944494.1:p.His443Leu