Canonical Allele Identifier: CA447691977

Gene: GABRG2

Linked Data

• COSMIC: COSM4467407
• MyVariant Identifiers: chr5:g.161580314C>T (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1369C>T
ENST00000361925.9:c.1464C>T	ENSP00000354651.5:p.Phe488=
ENST00000523372.2:c.1427C>T
ENST00000638253.1:n.622C>T
ENST00000638552.1:c.1059C>T	ENSP00000491763.1:p.Phe353=
ENST00000638660.1:c.1083C>T	ENSP00000492869.1:p.Phe361=
ENST00000638772.1:c.*3965C>T	ENSP00000491557.1:n.*3965C>T
ENST00000638877.1:c.1245C>T
ENST00000639046.1:c.735C>T	ENSP00000492659.1:p.Phe245=
ENST00000639111.2:c.1344C>T	ENSP00000492125.2:p.Phe448=
ENST00000639213.2:c.1368C>T MANE Select	ENSP00000491909.2:p.Phe456=
ENST00000639278.1:c.2031C>T	ENSP00000491958.1:n.2031C>T
ENST00000639384.1:c.*1549C>T	ENSP00000491240.1:n.*1549C>T
ENST00000639424.1:c.*568C>T	ENSP00000491245.1:n.*568C>T
ENST00000639683.1:c.1302C>T	ENSP00000492581.1:p.Phe434=
ENST00000639975.1:c.1278C>T	ENSP00000492096.1:p.Phe426=
ENST00000640500.1:n.642C>T
ENST00000640739.1:n.6315C>T
ENST00000640910.1:c.806C>T
ENST00000640985.1:c.1281C>T	ENSP00000492293.1:p.Phe427=
ENST00000641017.1:c.1437C>T	ENSP00000493461.1:p.Phe479=
ENST00000356592.7:c.1368C>T	ENSP00000349000.3:p.Phe456=
ENST00000361925.8:c.1344C>T	ENSP00000354651.4:p.Phe448=
ENST00000414552.6:c.1488C>T	ENSP00000410732.2:p.Phe496=
ENST00000522990.5:c.*946C>T	ENSP00000430732.1:n.*946C>T
ENST00000523372.1:c.1465C>T	ENSP00000430124.1:n.1465C>T
NM_000816.3:c.1344C>T	NP_000807.2:p.Phe448=
NM_198903.2:c.1488C>T	NP_944493.2:p.Phe496=
NM_198904.2:c.1368C>T	NP_944494.1:p.Phe456=
NM_001375339.1:c.1359C>T	NP_001362268.1:p.Phe453=
NM_001375340.1:c.*202C>T	NP_001362269.1:n.*202C>T
NM_001375341.1:c.1365C>T	NP_001362270.1:p.Phe455=
NM_001375342.1:c.1341C>T	NP_001362271.1:p.Phe447=
NM_001375343.1:c.1464C>T	NP_001362272.1:p.Phe488=
NM_001375344.1:c.1407C>T	NP_001362273.1:p.Phe469=
NM_001375345.1:c.1278C>T	NP_001362274.1:p.Phe426=
NM_001375346.1:c.1302C>T	NP_001362275.1:p.Phe434=
NM_001375347.1:c.1281C>T	NP_001362276.1:p.Phe427=
NM_001375348.1:c.924C>T	NP_001362277.1:p.Phe308=
NM_001375349.1:c.1059C>T	NP_001362278.1:p.Phe353=
NM_001375350.1:c.948C>T	NP_001362279.1:p.Phe316=
NM_198904.3:c.1368C>T	NP_944494.1:p.Phe456=
NM_198904.4:c.1368C>T MANE Select	NP_944494.1:p.Phe456=