Canonical Allele Identifier: CA362183673

Gene: GABRG2

Linked Data

• COSMIC: COSM6103104
• MyVariant Identifiers: chr5:g.161580236A>C (hg19) ; chr5:g.162153230A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153230A>C , CM000667.2:g.162153230A>C	GRCh38
NC_000005.9:g.161580236A>C , CM000667.1:g.161580236A>C	GRCh37
NC_000005.8:g.161512814A>C	NCBI36
NG_009290.1:g.90589A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1291A>C
ENST00000361925.9:c.1386A>C	ENSP00000354651.5:p.Glu462Asp
ENST00000523372.2:c.1349A>C
ENST00000638253.1:n.544A>C
ENST00000638552.1:c.981A>C	ENSP00000491763.1:p.Glu327Asp
ENST00000638660.1:c.1005A>C	ENSP00000492869.1:p.Glu335Asp
ENST00000638772.1:c.*3887A>C	ENSP00000491557.1:n.*3887A>C
ENST00000638877.1:c.1167A>C
ENST00000639046.1:c.657A>C	ENSP00000492659.1:p.Glu219Asp
ENST00000639111.2:c.1266A>C	ENSP00000492125.2:p.Glu422Asp
ENST00000639213.2:c.1290A>C MANE Select	ENSP00000491909.2:p.Glu430Asp
ENST00000639278.1:c.1953A>C	ENSP00000491958.1:n.1953A>C
ENST00000639384.1:c.*1471A>C	ENSP00000491240.1:n.*1471A>C
ENST00000639424.1:c.*490A>C	ENSP00000491245.1:n.*490A>C
ENST00000639683.1:c.1224A>C	ENSP00000492581.1:p.Glu408Asp
ENST00000639975.1:c.1200A>C	ENSP00000492096.1:p.Glu400Asp
ENST00000640500.1:n.564A>C
ENST00000640739.1:n.6237A>C
ENST00000640910.1:c.728A>C
ENST00000640985.1:c.1203A>C	ENSP00000492293.1:p.Glu401Asp
ENST00000641017.1:c.1359A>C	ENSP00000493461.1:p.Glu453Asp
ENST00000356592.7:c.1290A>C	ENSP00000349000.3:p.Glu430Asp
ENST00000361925.8:c.1266A>C	ENSP00000354651.4:p.Glu422Asp
ENST00000414552.6:c.1410A>C	ENSP00000410732.2:p.Glu470Asp
ENST00000522990.5:c.*868A>C	ENSP00000430732.1:n.*868A>C
ENST00000523372.1:c.1387A>C	ENSP00000430124.1:n.1387A>C
NM_000816.3:c.1266A>C	NP_000807.2:p.Glu422Asp
NM_198903.2:c.1410A>C	NP_944493.2:p.Glu470Asp
NM_198904.2:c.1290A>C	NP_944494.1:p.Glu430Asp
NM_001375339.1:c.1281A>C	NP_001362268.1:p.Glu427Asp
NM_001375340.1:c.*124A>C	NP_001362269.1:n.*124A>C
NM_001375341.1:c.1287A>C	NP_001362270.1:p.Glu429Asp
NM_001375342.1:c.1263A>C	NP_001362271.1:p.Glu421Asp
NM_001375343.1:c.1386A>C	NP_001362272.1:p.Glu462Asp
NM_001375344.1:c.1329A>C	NP_001362273.1:p.Glu443Asp
NM_001375345.1:c.1200A>C	NP_001362274.1:p.Glu400Asp
NM_001375346.1:c.1224A>C	NP_001362275.1:p.Glu408Asp
NM_001375347.1:c.1203A>C	NP_001362276.1:p.Glu401Asp
NM_001375348.1:c.846A>C	NP_001362277.1:p.Glu282Asp
NM_001375349.1:c.981A>C	NP_001362278.1:p.Glu327Asp
NM_001375350.1:c.870A>C	NP_001362279.1:p.Glu290Asp
NM_198904.3:c.1290A>C	NP_944494.1:p.Glu430Asp
NM_198904.4:c.1290A>C MANE Select	NP_944494.1:p.Glu430Asp