Canonical Allele Identifier: CA362183604

Gene: GABRG2

Linked Data

• MyVariant Identifiers: chr5:g.161580216A>T (hg19) ; chr5:g.162153210A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153210A>T , CM000667.2:g.162153210A>T	GRCh38
NC_000005.9:g.161580216A>T , CM000667.1:g.161580216A>T	GRCh37
NC_000005.8:g.161512794A>T	NCBI36
NG_009290.1:g.90569A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1271A>T
ENST00000361925.9:c.1366A>T	ENSP00000354651.5:p.Ser456Cys
ENST00000523372.2:c.1329A>T
ENST00000638253.1:n.524A>T
ENST00000638552.1:c.961A>T	ENSP00000491763.1:p.Ser321Cys
ENST00000638660.1:c.985A>T	ENSP00000492869.1:p.Ser329Cys
ENST00000638772.1:c.*3867A>T	ENSP00000491557.1:n.*3867A>T
ENST00000638877.1:c.1147A>T
ENST00000639046.1:c.637A>T	ENSP00000492659.1:p.Ser213Cys
ENST00000639111.2:c.1246A>T	ENSP00000492125.2:p.Ser416Cys
ENST00000639213.2:c.1270A>T MANE Select	ENSP00000491909.2:p.Ser424Cys
ENST00000639278.1:c.1933A>T	ENSP00000491958.1:n.1933A>T
ENST00000639384.1:c.*1451A>T	ENSP00000491240.1:n.*1451A>T
ENST00000639424.1:c.*470A>T	ENSP00000491245.1:n.*470A>T
ENST00000639683.1:c.1204A>T	ENSP00000492581.1:p.Ser402Cys
ENST00000639975.1:c.1180A>T	ENSP00000492096.1:p.Ser394Cys
ENST00000640500.1:n.544A>T
ENST00000640739.1:n.6217A>T
ENST00000640910.1:c.708A>T
ENST00000640985.1:c.1183A>T	ENSP00000492293.1:p.Ser395Cys
ENST00000641017.1:c.1339A>T	ENSP00000493461.1:p.Ser447Cys
ENST00000356592.7:c.1270A>T	ENSP00000349000.3:p.Ser424Cys
ENST00000361925.8:c.1246A>T	ENSP00000354651.4:p.Ser416Cys
ENST00000414552.6:c.1390A>T	ENSP00000410732.2:p.Ser464Cys
ENST00000522990.5:c.*848A>T	ENSP00000430732.1:n.*848A>T
ENST00000523372.1:c.1367A>T	ENSP00000430124.1:n.1367A>T
NM_000816.3:c.1246A>T	NP_000807.2:p.Ser416Cys
NM_198903.2:c.1390A>T	NP_944493.2:p.Ser464Cys
NM_198904.2:c.1270A>T	NP_944494.1:p.Ser424Cys
NM_001375339.1:c.1261A>T	NP_001362268.1:p.Ser421Cys
NM_001375340.1:c.*104A>T	NP_001362269.1:n.*104A>T
NM_001375341.1:c.1267A>T	NP_001362270.1:p.Ser423Cys
NM_001375342.1:c.1243A>T	NP_001362271.1:p.Ser415Cys
NM_001375343.1:c.1366A>T	NP_001362272.1:p.Ser456Cys
NM_001375344.1:c.1309A>T	NP_001362273.1:p.Ser437Cys
NM_001375345.1:c.1180A>T	NP_001362274.1:p.Ser394Cys
NM_001375346.1:c.1204A>T	NP_001362275.1:p.Ser402Cys
NM_001375347.1:c.1183A>T	NP_001362276.1:p.Ser395Cys
NM_001375348.1:c.826A>T	NP_001362277.1:p.Ser276Cys
NM_001375349.1:c.961A>T	NP_001362278.1:p.Ser321Cys
NM_001375350.1:c.850A>T	NP_001362279.1:p.Ser284Cys
NM_198904.3:c.1270A>T	NP_944494.1:p.Ser424Cys
NM_198904.4:c.1270A>T MANE Select	NP_944494.1:p.Ser424Cys