Canonical Allele Identifier: CA362183633

Gene: GABRG2

Linked Data

• MyVariant Identifiers: chr5:g.161580228T>A (hg19) ; chr5:g.162153222T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153222T>A , CM000667.2:g.162153222T>A	GRCh38
NC_000005.9:g.161580228T>A , CM000667.1:g.161580228T>A	GRCh37
NC_000005.8:g.161512806T>A	NCBI36
NG_009290.1:g.90581T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1283T>A
ENST00000361925.9:c.1378T>A	ENSP00000354651.5:p.Cys460Ser
ENST00000523372.2:c.1341T>A
ENST00000638253.1:n.536T>A
ENST00000638552.1:c.973T>A	ENSP00000491763.1:p.Cys325Ser
ENST00000638660.1:c.997T>A	ENSP00000492869.1:p.Cys333Ser
ENST00000638772.1:c.*3879T>A	ENSP00000491557.1:n.*3879T>A
ENST00000638877.1:c.1159T>A
ENST00000639046.1:c.649T>A	ENSP00000492659.1:p.Cys217Ser
ENST00000639111.2:c.1258T>A	ENSP00000492125.2:p.Cys420Ser
ENST00000639213.2:c.1282T>A MANE Select	ENSP00000491909.2:p.Cys428Ser
ENST00000639278.1:c.1945T>A	ENSP00000491958.1:n.1945T>A
ENST00000639384.1:c.*1463T>A	ENSP00000491240.1:n.*1463T>A
ENST00000639424.1:c.*482T>A	ENSP00000491245.1:n.*482T>A
ENST00000639683.1:c.1216T>A	ENSP00000492581.1:p.Cys406Ser
ENST00000639975.1:c.1192T>A	ENSP00000492096.1:p.Cys398Ser
ENST00000640500.1:n.556T>A
ENST00000640739.1:n.6229T>A
ENST00000640910.1:c.720T>A
ENST00000640985.1:c.1195T>A	ENSP00000492293.1:p.Cys399Ser
ENST00000641017.1:c.1351T>A	ENSP00000493461.1:p.Cys451Ser
ENST00000356592.7:c.1282T>A	ENSP00000349000.3:p.Cys428Ser
ENST00000361925.8:c.1258T>A	ENSP00000354651.4:p.Cys420Ser
ENST00000414552.6:c.1402T>A	ENSP00000410732.2:p.Cys468Ser
ENST00000522990.5:c.*860T>A	ENSP00000430732.1:n.*860T>A
ENST00000523372.1:c.1379T>A	ENSP00000430124.1:n.1379T>A
NM_000816.3:c.1258T>A	NP_000807.2:p.Cys420Ser
NM_198903.2:c.1402T>A	NP_944493.2:p.Cys468Ser
NM_198904.2:c.1282T>A	NP_944494.1:p.Cys428Ser
NM_001375339.1:c.1273T>A	NP_001362268.1:p.Cys425Ser
NM_001375340.1:c.*116T>A	NP_001362269.1:n.*116T>A
NM_001375341.1:c.1279T>A	NP_001362270.1:p.Cys427Ser
NM_001375342.1:c.1255T>A	NP_001362271.1:p.Cys419Ser
NM_001375343.1:c.1378T>A	NP_001362272.1:p.Cys460Ser
NM_001375344.1:c.1321T>A	NP_001362273.1:p.Cys441Ser
NM_001375345.1:c.1192T>A	NP_001362274.1:p.Cys398Ser
NM_001375346.1:c.1216T>A	NP_001362275.1:p.Cys406Ser
NM_001375347.1:c.1195T>A	NP_001362276.1:p.Cys399Ser
NM_001375348.1:c.838T>A	NP_001362277.1:p.Cys280Ser
NM_001375349.1:c.973T>A	NP_001362278.1:p.Cys325Ser
NM_001375350.1:c.862T>A	NP_001362279.1:p.Cys288Ser
NM_198904.3:c.1282T>A	NP_944494.1:p.Cys428Ser
NM_198904.4:c.1282T>A MANE Select	NP_944494.1:p.Cys428Ser