Canonical Allele Identifier: CA447692011

Gene: GABRG2

Linked Data

• gnomAD v4: 5-162153332-T-C
• MyVariant Identifiers: chr5:g.161580338T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153332T>C , CM000667.2:g.162153332T>C	GRCh38
NC_000005.9:g.161580338T>C , CM000667.1:g.161580338T>C	GRCh37
NC_000005.8:g.161512916T>C	NCBI36
NG_009290.1:g.90691T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1393T>C
ENST00000361925.9:c.1488T>C	ENSP00000354651.5:p.Phe496=
ENST00000523372.2:c.1451T>C
ENST00000638253.1:n.646T>C
ENST00000638552.1:c.1083T>C	ENSP00000491763.1:p.Phe361=
ENST00000638660.1:c.1107T>C	ENSP00000492869.1:p.Phe369=
ENST00000638772.1:c.*3989T>C	ENSP00000491557.1:n.*3989T>C
ENST00000638877.1:c.1269T>C
ENST00000639046.1:c.759T>C	ENSP00000492659.1:p.Phe253=
ENST00000639111.2:c.1368T>C	ENSP00000492125.2:p.Phe456=
ENST00000639213.2:c.1392T>C MANE Select	ENSP00000491909.2:p.Phe464=
ENST00000639278.1:c.2055T>C	ENSP00000491958.1:n.2055T>C
ENST00000639384.1:c.*1573T>C	ENSP00000491240.1:n.*1573T>C
ENST00000639424.1:c.*592T>C	ENSP00000491245.1:n.*592T>C
ENST00000639683.1:c.1326T>C	ENSP00000492581.1:p.Phe442=
ENST00000639975.1:c.1302T>C	ENSP00000492096.1:p.Phe434=
ENST00000640500.1:n.666T>C
ENST00000640739.1:n.6339T>C
ENST00000640910.1:c.830T>C
ENST00000640985.1:c.1305T>C	ENSP00000492293.1:p.Phe435=
ENST00000641017.1:c.1461T>C	ENSP00000493461.1:p.Phe487=
ENST00000356592.7:c.1392T>C	ENSP00000349000.3:p.Phe464=
ENST00000361925.8:c.1368T>C	ENSP00000354651.4:p.Phe456=
ENST00000414552.6:c.1512T>C	ENSP00000410732.2:p.Phe504=
ENST00000522990.5:c.*970T>C	ENSP00000430732.1:n.*970T>C
ENST00000523372.1:c.1489T>C	ENSP00000430124.1:n.1489T>C
NM_000816.3:c.1368T>C	NP_000807.2:p.Phe456=
NM_198903.2:c.1512T>C	NP_944493.2:p.Phe504=
NM_198904.2:c.1392T>C	NP_944494.1:p.Phe464=
NM_001375339.1:c.1383T>C	NP_001362268.1:p.Phe461=
NM_001375340.1:c.*226T>C	NP_001362269.1:n.*226T>C
NM_001375341.1:c.1389T>C	NP_001362270.1:p.Phe463=
NM_001375342.1:c.1365T>C	NP_001362271.1:p.Phe455=
NM_001375343.1:c.1488T>C	NP_001362272.1:p.Phe496=
NM_001375344.1:c.1431T>C	NP_001362273.1:p.Phe477=
NM_001375345.1:c.1302T>C	NP_001362274.1:p.Phe434=
NM_001375346.1:c.1326T>C	NP_001362275.1:p.Phe442=
NM_001375347.1:c.1305T>C	NP_001362276.1:p.Phe435=
NM_001375348.1:c.948T>C	NP_001362277.1:p.Phe316=
NM_001375349.1:c.1083T>C	NP_001362278.1:p.Phe361=
NM_001375350.1:c.972T>C	NP_001362279.1:p.Phe324=
NM_198904.3:c.1392T>C	NP_944494.1:p.Phe464=
NM_198904.4:c.1392T>C MANE Select	NP_944494.1:p.Phe464=