Canonical Allele Identifier: CA362184006

Gene: GABRG2

Linked Data

• MyVariant Identifiers: chr5:g.161580314C>G (hg19) ; chr5:g.162153308C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153308C>G , CM000667.2:g.162153308C>G	GRCh38
NC_000005.9:g.161580314C>G , CM000667.1:g.161580314C>G	GRCh37
NC_000005.8:g.161512892C>G	NCBI36
NG_009290.1:g.90667C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1369C>G
ENST00000361925.9:c.1464C>G	ENSP00000354651.5:p.Phe488Leu
ENST00000523372.2:c.1427C>G
ENST00000638253.1:n.622C>G
ENST00000638552.1:c.1059C>G	ENSP00000491763.1:p.Phe353Leu
ENST00000638660.1:c.1083C>G	ENSP00000492869.1:p.Phe361Leu
ENST00000638772.1:c.*3965C>G	ENSP00000491557.1:n.*3965C>G
ENST00000638877.1:c.1245C>G
ENST00000639046.1:c.735C>G	ENSP00000492659.1:p.Phe245Leu
ENST00000639111.2:c.1344C>G	ENSP00000492125.2:p.Phe448Leu
ENST00000639213.2:c.1368C>G MANE Select	ENSP00000491909.2:p.Phe456Leu
ENST00000639278.1:c.2031C>G	ENSP00000491958.1:n.2031C>G
ENST00000639384.1:c.*1549C>G	ENSP00000491240.1:n.*1549C>G
ENST00000639424.1:c.*568C>G	ENSP00000491245.1:n.*568C>G
ENST00000639683.1:c.1302C>G	ENSP00000492581.1:p.Phe434Leu
ENST00000639975.1:c.1278C>G	ENSP00000492096.1:p.Phe426Leu
ENST00000640500.1:n.642C>G
ENST00000640739.1:n.6315C>G
ENST00000640910.1:c.806C>G
ENST00000640985.1:c.1281C>G	ENSP00000492293.1:p.Phe427Leu
ENST00000641017.1:c.1437C>G	ENSP00000493461.1:p.Phe479Leu
ENST00000356592.7:c.1368C>G	ENSP00000349000.3:p.Phe456Leu
ENST00000361925.8:c.1344C>G	ENSP00000354651.4:p.Phe448Leu
ENST00000414552.6:c.1488C>G	ENSP00000410732.2:p.Phe496Leu
ENST00000522990.5:c.*946C>G	ENSP00000430732.1:n.*946C>G
ENST00000523372.1:c.1465C>G	ENSP00000430124.1:n.1465C>G
NM_000816.3:c.1344C>G	NP_000807.2:p.Phe448Leu
NM_198903.2:c.1488C>G	NP_944493.2:p.Phe496Leu
NM_198904.2:c.1368C>G	NP_944494.1:p.Phe456Leu
NM_001375339.1:c.1359C>G	NP_001362268.1:p.Phe453Leu
NM_001375340.1:c.*202C>G	NP_001362269.1:n.*202C>G
NM_001375341.1:c.1365C>G	NP_001362270.1:p.Phe455Leu
NM_001375342.1:c.1341C>G	NP_001362271.1:p.Phe447Leu
NM_001375343.1:c.1464C>G	NP_001362272.1:p.Phe488Leu
NM_001375344.1:c.1407C>G	NP_001362273.1:p.Phe469Leu
NM_001375345.1:c.1278C>G	NP_001362274.1:p.Phe426Leu
NM_001375346.1:c.1302C>G	NP_001362275.1:p.Phe434Leu
NM_001375347.1:c.1281C>G	NP_001362276.1:p.Phe427Leu
NM_001375348.1:c.924C>G	NP_001362277.1:p.Phe308Leu
NM_001375349.1:c.1059C>G	NP_001362278.1:p.Phe353Leu
NM_001375350.1:c.948C>G	NP_001362279.1:p.Phe316Leu
NM_198904.3:c.1368C>G	NP_944494.1:p.Phe456Leu
NM_198904.4:c.1368C>G MANE Select	NP_944494.1:p.Phe456Leu