Canonical Allele Identifier: CA447692019

Gene: GABRG2

Linked Data

• ClinVar Variation Id: 793606
• ClinVar RCV Id: RCV001417579
• dbSNP Id: rs1581463326
• MyVariant Identifiers: chr5:g.161580344G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153338G>T , CM000667.2:g.162153338G>T	GRCh38
NC_000005.9:g.161580344G>T , CM000667.1:g.161580344G>T	GRCh37
NC_000005.8:g.161512922G>T	NCBI36
NG_009290.1:g.90697G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1399G>T
ENST00000361925.9:c.1494G>T	ENSP00000354651.5:p.Leu498=
ENST00000523372.2:c.1457G>T
ENST00000638253.1:n.652G>T
ENST00000638552.1:c.1089G>T	ENSP00000491763.1:p.Leu363=
ENST00000638660.1:c.1113G>T	ENSP00000492869.1:p.Leu371=
ENST00000638772.1:c.*3995G>T	ENSP00000491557.1:n.*3995G>T
ENST00000638877.1:c.1275G>T
ENST00000639046.1:c.765G>T	ENSP00000492659.1:p.Leu255=
ENST00000639111.2:c.1374G>T	ENSP00000492125.2:p.Leu458=
ENST00000639213.2:c.1398G>T MANE Select	ENSP00000491909.2:p.Leu466=
ENST00000639278.1:c.2061G>T	ENSP00000491958.1:n.2061G>T
ENST00000639384.1:c.*1579G>T	ENSP00000491240.1:n.*1579G>T
ENST00000639424.1:c.*598G>T	ENSP00000491245.1:n.*598G>T
ENST00000639683.1:c.1332G>T	ENSP00000492581.1:p.Leu444=
ENST00000639975.1:c.1308G>T	ENSP00000492096.1:p.Leu436=
ENST00000640500.1:n.672G>T
ENST00000640739.1:n.6345G>T
ENST00000640910.1:c.836G>T
ENST00000640985.1:c.1311G>T	ENSP00000492293.1:p.Leu437=
ENST00000641017.1:c.1467G>T	ENSP00000493461.1:p.Leu489=
ENST00000356592.7:c.1398G>T	ENSP00000349000.3:p.Leu466=
ENST00000361925.8:c.1374G>T	ENSP00000354651.4:p.Leu458=
ENST00000414552.6:c.1518G>T	ENSP00000410732.2:p.Leu506=
ENST00000522990.5:c.*976G>T	ENSP00000430732.1:n.*976G>T
ENST00000523372.1:c.1495G>T	ENSP00000430124.1:n.1495G>T
NM_000816.3:c.1374G>T	NP_000807.2:p.Leu458=
NM_198903.2:c.1518G>T	NP_944493.2:p.Leu506=
NM_198904.2:c.1398G>T	NP_944494.1:p.Leu466=
NM_001375339.1:c.1389G>T	NP_001362268.1:p.Leu463=
NM_001375340.1:c.*232G>T	NP_001362269.1:n.*232G>T
NM_001375341.1:c.1395G>T	NP_001362270.1:p.Leu465=
NM_001375342.1:c.1371G>T	NP_001362271.1:p.Leu457=
NM_001375343.1:c.1494G>T	NP_001362272.1:p.Leu498=
NM_001375344.1:c.1437G>T	NP_001362273.1:p.Leu479=
NM_001375345.1:c.1308G>T	NP_001362274.1:p.Leu436=
NM_001375346.1:c.1332G>T	NP_001362275.1:p.Leu444=
NM_001375347.1:c.1311G>T	NP_001362276.1:p.Leu437=
NM_001375348.1:c.954G>T	NP_001362277.1:p.Leu318=
NM_001375349.1:c.1089G>T	NP_001362278.1:p.Leu363=
NM_001375350.1:c.978G>T	NP_001362279.1:p.Leu326=
NM_198904.3:c.1398G>T	NP_944494.1:p.Leu466=
NM_198904.4:c.1398G>T MANE Select	NP_944494.1:p.Leu466=