Canonical Allele Identifier: CA362184171

Gene: GABRG2

Linked Data

• ClinVar Variation Id: 1481996
• ClinVar RCV Id: RCV001994375
• dbSNP Id: rs2113651577
• MyVariant Identifiers: chr5:g.161580351T>C (hg19) ; chr5:g.162153345T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153345T>C , CM000667.2:g.162153345T>C	GRCh38
NC_000005.9:g.161580351T>C , CM000667.1:g.161580351T>C	GRCh37
NC_000005.8:g.161512929T>C	NCBI36
NG_009290.1:g.90704T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1406T>C
ENST00000361925.9:c.1501T>C	ENSP00000354651.5:p.Trp501Arg
ENST00000523372.2:c.1464T>C
ENST00000638253.1:n.659T>C
ENST00000638552.1:c.1096T>C	ENSP00000491763.1:p.Trp366Arg
ENST00000638660.1:c.1120T>C	ENSP00000492869.1:p.Trp374Arg
ENST00000638772.1:c.*4002T>C	ENSP00000491557.1:n.*4002T>C
ENST00000638877.1:c.1282T>C
ENST00000639046.1:c.772T>C	ENSP00000492659.1:p.Trp258Arg
ENST00000639111.2:c.1381T>C	ENSP00000492125.2:p.Trp461Arg
ENST00000639213.2:c.1405T>C MANE Select	ENSP00000491909.2:p.Trp469Arg
ENST00000639278.1:c.2068T>C	ENSP00000491958.1:n.2068T>C
ENST00000639384.1:c.*1586T>C	ENSP00000491240.1:n.*1586T>C
ENST00000639424.1:c.*605T>C	ENSP00000491245.1:n.*605T>C
ENST00000639683.1:c.1339T>C	ENSP00000492581.1:p.Trp447Arg
ENST00000639975.1:c.1315T>C	ENSP00000492096.1:p.Trp439Arg
ENST00000640500.1:n.679T>C
ENST00000640739.1:n.6352T>C
ENST00000640910.1:c.843T>C
ENST00000640985.1:c.1318T>C	ENSP00000492293.1:p.Trp440Arg
ENST00000641017.1:c.1474T>C	ENSP00000493461.1:p.Trp492Arg
ENST00000356592.7:c.1405T>C	ENSP00000349000.3:p.Trp469Arg
ENST00000361925.8:c.1381T>C	ENSP00000354651.4:p.Trp461Arg
ENST00000414552.6:c.1525T>C	ENSP00000410732.2:p.Trp509Arg
ENST00000522990.5:c.*983T>C	ENSP00000430732.1:n.*983T>C
ENST00000523372.1:c.1502T>C	ENSP00000430124.1:n.1502T>C
NM_000816.3:c.1381T>C	NP_000807.2:p.Trp461Arg
NM_198903.2:c.1525T>C	NP_944493.2:p.Trp509Arg
NM_198904.2:c.1405T>C	NP_944494.1:p.Trp469Arg
NM_001375339.1:c.1396T>C	NP_001362268.1:p.Trp466Arg
NM_001375340.1:c.*239T>C	NP_001362269.1:n.*239T>C
NM_001375341.1:c.1402T>C	NP_001362270.1:p.Trp468Arg
NM_001375342.1:c.1378T>C	NP_001362271.1:p.Trp460Arg
NM_001375343.1:c.1501T>C	NP_001362272.1:p.Trp501Arg
NM_001375344.1:c.1444T>C	NP_001362273.1:p.Trp482Arg
NM_001375345.1:c.1315T>C	NP_001362274.1:p.Trp439Arg
NM_001375346.1:c.1339T>C	NP_001362275.1:p.Trp447Arg
NM_001375347.1:c.1318T>C	NP_001362276.1:p.Trp440Arg
NM_001375348.1:c.961T>C	NP_001362277.1:p.Trp321Arg
NM_001375349.1:c.1096T>C	NP_001362278.1:p.Trp366Arg
NM_001375350.1:c.985T>C	NP_001362279.1:p.Trp329Arg
NM_198904.3:c.1405T>C	NP_944494.1:p.Trp469Arg
NM_198904.4:c.1405T>C MANE Select	NP_944494.1:p.Trp469Arg