Canonical Allele Identifier: CA362184290

Gene: GABRG2

Linked Data

• MyVariant Identifiers: chr5:g.161580374A>G (hg19) ; chr5:g.162153368A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153368A>G , CM000667.2:g.162153368A>G	GRCh38
NC_000005.9:g.161580374A>G , CM000667.1:g.161580374A>G	GRCh37
NC_000005.8:g.161512952A>G	NCBI36
NG_009290.1:g.90727A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1429A>G
ENST00000361925.9:c.1524A>G	ENSP00000354651.5:p.Ter508Trp
ENST00000523372.2:c.1487A>G
ENST00000638253.1:n.682A>G
ENST00000638552.1:c.1119A>G	ENSP00000491763.1:p.Ter373Trp
ENST00000638660.1:c.1143A>G	ENSP00000492869.1:p.Ter381Trp
ENST00000638772.1:c.*4025A>G	ENSP00000491557.1:n.*4025A>G
ENST00000638877.1:c.1305A>G
ENST00000639046.1:c.795A>G	ENSP00000492659.1:p.Ter265Trp
ENST00000639111.2:c.1404A>G	ENSP00000492125.2:p.Ter468Trp
ENST00000639213.2:c.1428A>G MANE Select	ENSP00000491909.2:p.Ter476Trp
ENST00000639278.1:c.2091A>G	ENSP00000491958.1:n.2091A>G
ENST00000639384.1:c.*1609A>G	ENSP00000491240.1:n.*1609A>G
ENST00000639424.1:c.*628A>G	ENSP00000491245.1:n.*628A>G
ENST00000639683.1:c.1362A>G	ENSP00000492581.1:p.Ter454Trp
ENST00000639975.1:c.1338A>G	ENSP00000492096.1:p.Ter446Trp
ENST00000640500.1:n.702A>G
ENST00000640739.1:n.6375A>G
ENST00000640910.1:c.866A>G
ENST00000640985.1:c.1341A>G	ENSP00000492293.1:p.Ter447Trp
ENST00000641017.1:c.1497A>G	ENSP00000493461.1:p.Ter499Trp
ENST00000356592.7:c.1428A>G	ENSP00000349000.3:p.Ter476Trp
ENST00000361925.8:c.1404A>G	ENSP00000354651.4:p.Ter468Trp
ENST00000414552.6:c.1548A>G	ENSP00000410732.2:p.Ter516Trp
ENST00000522990.5:c.*1006A>G	ENSP00000430732.1:n.*1006A>G
ENST00000523372.1:c.1525A>G	ENSP00000430124.1:n.1525A>G
NM_000816.3:c.1404A>G	NP_000807.2:p.Ter468Trp
NM_198903.2:c.1548A>G	NP_944493.2:p.Ter516Trp
NM_198904.2:c.1428A>G	NP_944494.1:p.Ter476Trp
NM_001375339.1:c.1419A>G	NP_001362268.1:p.Ter473Trp
NM_001375340.1:c.*262A>G	NP_001362269.1:n.*262A>G
NM_001375341.1:c.1425A>G	NP_001362270.1:p.Ter475Trp
NM_001375342.1:c.1401A>G	NP_001362271.1:p.Ter467Trp
NM_001375343.1:c.1524A>G	NP_001362272.1:p.Ter508Trp
NM_001375344.1:c.1467A>G	NP_001362273.1:p.Ter489Trp
NM_001375345.1:c.1338A>G	NP_001362274.1:p.Ter446Trp
NM_001375346.1:c.1362A>G	NP_001362275.1:p.Ter454Trp
NM_001375347.1:c.1341A>G	NP_001362276.1:p.Ter447Trp
NM_001375348.1:c.984A>G	NP_001362277.1:p.Ter328Trp
NM_001375349.1:c.1119A>G	NP_001362278.1:p.Ter373Trp
NM_001375350.1:c.1008A>G	NP_001362279.1:p.Ter336Trp
NM_198904.3:c.1428A>G	NP_944494.1:p.Ter476Trp
NM_198904.4:c.1428A>G MANE Select	NP_944494.1:p.Ter476Trp