Canonical Allele Identifier: CA362184108

Gene: GABRG2

Linked Data

• MyVariant Identifiers: chr5:g.161580337T>C (hg19) ; chr5:g.162153331T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153331T>C , CM000667.2:g.162153331T>C	GRCh38
NC_000005.9:g.161580337T>C , CM000667.1:g.161580337T>C	GRCh37
NC_000005.8:g.161512915T>C	NCBI36
NG_009290.1:g.90690T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1392T>C
ENST00000361925.9:c.1487T>C	ENSP00000354651.5:p.Phe496Ser
ENST00000523372.2:c.1450T>C
ENST00000638253.1:n.645T>C
ENST00000638552.1:c.1082T>C	ENSP00000491763.1:p.Phe361Ser
ENST00000638660.1:c.1106T>C	ENSP00000492869.1:p.Phe369Ser
ENST00000638772.1:c.*3988T>C	ENSP00000491557.1:n.*3988T>C
ENST00000638877.1:c.1268T>C
ENST00000639046.1:c.758T>C	ENSP00000492659.1:p.Phe253Ser
ENST00000639111.2:c.1367T>C	ENSP00000492125.2:p.Phe456Ser
ENST00000639213.2:c.1391T>C MANE Select	ENSP00000491909.2:p.Phe464Ser
ENST00000639278.1:c.2054T>C	ENSP00000491958.1:n.2054T>C
ENST00000639384.1:c.*1572T>C	ENSP00000491240.1:n.*1572T>C
ENST00000639424.1:c.*591T>C	ENSP00000491245.1:n.*591T>C
ENST00000639683.1:c.1325T>C	ENSP00000492581.1:p.Phe442Ser
ENST00000639975.1:c.1301T>C	ENSP00000492096.1:p.Phe434Ser
ENST00000640500.1:n.665T>C
ENST00000640739.1:n.6338T>C
ENST00000640910.1:c.829T>C
ENST00000640985.1:c.1304T>C	ENSP00000492293.1:p.Phe435Ser
ENST00000641017.1:c.1460T>C	ENSP00000493461.1:p.Phe487Ser
ENST00000356592.7:c.1391T>C	ENSP00000349000.3:p.Phe464Ser
ENST00000361925.8:c.1367T>C	ENSP00000354651.4:p.Phe456Ser
ENST00000414552.6:c.1511T>C	ENSP00000410732.2:p.Phe504Ser
ENST00000522990.5:c.*969T>C	ENSP00000430732.1:n.*969T>C
ENST00000523372.1:c.1488T>C	ENSP00000430124.1:n.1488T>C
NM_000816.3:c.1367T>C	NP_000807.2:p.Phe456Ser
NM_198903.2:c.1511T>C	NP_944493.2:p.Phe504Ser
NM_198904.2:c.1391T>C	NP_944494.1:p.Phe464Ser
NM_001375339.1:c.1382T>C	NP_001362268.1:p.Phe461Ser
NM_001375340.1:c.*225T>C	NP_001362269.1:n.*225T>C
NM_001375341.1:c.1388T>C	NP_001362270.1:p.Phe463Ser
NM_001375342.1:c.1364T>C	NP_001362271.1:p.Phe455Ser
NM_001375343.1:c.1487T>C	NP_001362272.1:p.Phe496Ser
NM_001375344.1:c.1430T>C	NP_001362273.1:p.Phe477Ser
NM_001375345.1:c.1301T>C	NP_001362274.1:p.Phe434Ser
NM_001375346.1:c.1325T>C	NP_001362275.1:p.Phe442Ser
NM_001375347.1:c.1304T>C	NP_001362276.1:p.Phe435Ser
NM_001375348.1:c.947T>C	NP_001362277.1:p.Phe316Ser
NM_001375349.1:c.1082T>C	NP_001362278.1:p.Phe361Ser
NM_001375350.1:c.971T>C	NP_001362279.1:p.Phe324Ser
NM_198904.3:c.1391T>C	NP_944494.1:p.Phe464Ser
NM_198904.4:c.1391T>C MANE Select	NP_944494.1:p.Phe464Ser