Canonical Allele Identifier: CA362184278

Gene: GABRG2

Linked Data

• MyVariant Identifiers: chr5:g.161580372T>A (hg19) ; chr5:g.162153366T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153366T>A , CM000667.2:g.162153366T>A	GRCh38
NC_000005.9:g.161580372T>A , CM000667.1:g.161580372T>A	GRCh37
NC_000005.8:g.161512950T>A	NCBI36
NG_009290.1:g.90725T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1427T>A
ENST00000361925.9:c.1522T>A	ENSP00000354651.5:p.Ter508Arg
ENST00000523372.2:c.1485T>A
ENST00000638253.1:n.680T>A
ENST00000638552.1:c.1117T>A	ENSP00000491763.1:p.Ter373Arg
ENST00000638660.1:c.1141T>A	ENSP00000492869.1:p.Ter381Arg
ENST00000638772.1:c.*4023T>A	ENSP00000491557.1:n.*4023T>A
ENST00000638877.1:c.1303T>A
ENST00000639046.1:c.793T>A	ENSP00000492659.1:p.Ter265Arg
ENST00000639111.2:c.1402T>A	ENSP00000492125.2:p.Ter468Arg
ENST00000639213.2:c.1426T>A MANE Select	ENSP00000491909.2:p.Ter476Arg
ENST00000639278.1:c.2089T>A	ENSP00000491958.1:n.2089T>A
ENST00000639384.1:c.*1607T>A	ENSP00000491240.1:n.*1607T>A
ENST00000639424.1:c.*626T>A	ENSP00000491245.1:n.*626T>A
ENST00000639683.1:c.1360T>A	ENSP00000492581.1:p.Ter454Arg
ENST00000639975.1:c.1336T>A	ENSP00000492096.1:p.Ter446Arg
ENST00000640500.1:n.700T>A
ENST00000640739.1:n.6373T>A
ENST00000640910.1:c.864T>A
ENST00000640985.1:c.1339T>A	ENSP00000492293.1:p.Ter447Arg
ENST00000641017.1:c.1495T>A	ENSP00000493461.1:p.Ter499Arg
ENST00000356592.7:c.1426T>A	ENSP00000349000.3:p.Ter476Arg
ENST00000361925.8:c.1402T>A	ENSP00000354651.4:p.Ter468Arg
ENST00000414552.6:c.1546T>A	ENSP00000410732.2:p.Ter516Arg
ENST00000522990.5:c.*1004T>A	ENSP00000430732.1:n.*1004T>A
ENST00000523372.1:c.1523T>A	ENSP00000430124.1:n.1523T>A
NM_000816.3:c.1402T>A	NP_000807.2:p.Ter468Arg
NM_198903.2:c.1546T>A	NP_944493.2:p.Ter516Arg
NM_198904.2:c.1426T>A	NP_944494.1:p.Ter476Arg
NM_001375339.1:c.1417T>A	NP_001362268.1:p.Ter473Arg
NM_001375340.1:c.*260T>A	NP_001362269.1:n.*260T>A
NM_001375341.1:c.1423T>A	NP_001362270.1:p.Ter475Arg
NM_001375342.1:c.1399T>A	NP_001362271.1:p.Ter467Arg
NM_001375343.1:c.1522T>A	NP_001362272.1:p.Ter508Arg
NM_001375344.1:c.1465T>A	NP_001362273.1:p.Ter489Arg
NM_001375345.1:c.1336T>A	NP_001362274.1:p.Ter446Arg
NM_001375346.1:c.1360T>A	NP_001362275.1:p.Ter454Arg
NM_001375347.1:c.1339T>A	NP_001362276.1:p.Ter447Arg
NM_001375348.1:c.982T>A	NP_001362277.1:p.Ter328Arg
NM_001375349.1:c.1117T>A	NP_001362278.1:p.Ter373Arg
NM_001375350.1:c.1006T>A	NP_001362279.1:p.Ter336Arg
NM_198904.3:c.1426T>A	NP_944494.1:p.Ter476Arg
NM_198904.4:c.1426T>A MANE Select	NP_944494.1:p.Ter476Arg