Canonical Allele Identifier: CA362184192

Gene: GABRG2

Linked Data

• MyVariant Identifiers: chr5:g.161580354G>T (hg19) ; chr5:g.162153348G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153348G>T , CM000667.2:g.162153348G>T	GRCh38
NC_000005.9:g.161580354G>T , CM000667.1:g.161580354G>T	GRCh37
NC_000005.8:g.161512932G>T	NCBI36
NG_009290.1:g.90707G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1409G>T
ENST00000361925.9:c.1504G>T	ENSP00000354651.5:p.Val502Phe
ENST00000523372.2:c.1467G>T
ENST00000638253.1:n.662G>T
ENST00000638552.1:c.1099G>T	ENSP00000491763.1:p.Val367Phe
ENST00000638660.1:c.1123G>T	ENSP00000492869.1:p.Val375Phe
ENST00000638772.1:c.*4005G>T	ENSP00000491557.1:n.*4005G>T
ENST00000638877.1:c.1285G>T
ENST00000639046.1:c.775G>T	ENSP00000492659.1:p.Val259Phe
ENST00000639111.2:c.1384G>T	ENSP00000492125.2:p.Val462Phe
ENST00000639213.2:c.1408G>T MANE Select	ENSP00000491909.2:p.Val470Phe
ENST00000639278.1:c.2071G>T	ENSP00000491958.1:n.2071G>T
ENST00000639384.1:c.*1589G>T	ENSP00000491240.1:n.*1589G>T
ENST00000639424.1:c.*608G>T	ENSP00000491245.1:n.*608G>T
ENST00000639683.1:c.1342G>T	ENSP00000492581.1:p.Val448Phe
ENST00000639975.1:c.1318G>T	ENSP00000492096.1:p.Val440Phe
ENST00000640500.1:n.682G>T
ENST00000640739.1:n.6355G>T
ENST00000640910.1:c.846G>T
ENST00000640985.1:c.1321G>T	ENSP00000492293.1:p.Val441Phe
ENST00000641017.1:c.1477G>T	ENSP00000493461.1:p.Val493Phe
ENST00000356592.7:c.1408G>T	ENSP00000349000.3:p.Val470Phe
ENST00000361925.8:c.1384G>T	ENSP00000354651.4:p.Val462Phe
ENST00000414552.6:c.1528G>T	ENSP00000410732.2:p.Val510Phe
ENST00000522990.5:c.*986G>T	ENSP00000430732.1:n.*986G>T
ENST00000523372.1:c.1505G>T	ENSP00000430124.1:n.1505G>T
NM_000816.3:c.1384G>T	NP_000807.2:p.Val462Phe
NM_198903.2:c.1528G>T	NP_944493.2:p.Val510Phe
NM_198904.2:c.1408G>T	NP_944494.1:p.Val470Phe
NM_001375339.1:c.1399G>T	NP_001362268.1:p.Val467Phe
NM_001375340.1:c.*242G>T	NP_001362269.1:n.*242G>T
NM_001375341.1:c.1405G>T	NP_001362270.1:p.Val469Phe
NM_001375342.1:c.1381G>T	NP_001362271.1:p.Val461Phe
NM_001375343.1:c.1504G>T	NP_001362272.1:p.Val502Phe
NM_001375344.1:c.1447G>T	NP_001362273.1:p.Val483Phe
NM_001375345.1:c.1318G>T	NP_001362274.1:p.Val440Phe
NM_001375346.1:c.1342G>T	NP_001362275.1:p.Val448Phe
NM_001375347.1:c.1321G>T	NP_001362276.1:p.Val441Phe
NM_001375348.1:c.964G>T	NP_001362277.1:p.Val322Phe
NM_001375349.1:c.1099G>T	NP_001362278.1:p.Val367Phe
NM_001375350.1:c.988G>T	NP_001362279.1:p.Val330Phe
NM_198904.3:c.1408G>T	NP_944494.1:p.Val470Phe
NM_198904.4:c.1408G>T MANE Select	NP_944494.1:p.Val470Phe