Canonical Allele Identifier: CA362184030

Gene: GABRG2

Linked Data

• MyVariant Identifiers: chr5:g.161580319C>T (hg19) ; chr5:g.162153313C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153313C>T , CM000667.2:g.162153313C>T	GRCh38
NC_000005.9:g.161580319C>T , CM000667.1:g.161580319C>T	GRCh37
NC_000005.8:g.161512897C>T	NCBI36
NG_009290.1:g.90672C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1374C>T
ENST00000361925.9:c.1469C>T	ENSP00000354651.5:p.Pro490Leu
ENST00000523372.2:c.1432C>T
ENST00000638253.1:n.627C>T
ENST00000638552.1:c.1064C>T	ENSP00000491763.1:p.Pro355Leu
ENST00000638660.1:c.1088C>T	ENSP00000492869.1:p.Pro363Leu
ENST00000638772.1:c.*3970C>T	ENSP00000491557.1:n.*3970C>T
ENST00000638877.1:c.1250C>T
ENST00000639046.1:c.740C>T	ENSP00000492659.1:p.Pro247Leu
ENST00000639111.2:c.1349C>T	ENSP00000492125.2:p.Pro450Leu
ENST00000639213.2:c.1373C>T MANE Select	ENSP00000491909.2:p.Pro458Leu
ENST00000639278.1:c.2036C>T	ENSP00000491958.1:n.2036C>T
ENST00000639384.1:c.*1554C>T	ENSP00000491240.1:n.*1554C>T
ENST00000639424.1:c.*573C>T	ENSP00000491245.1:n.*573C>T
ENST00000639683.1:c.1307C>T	ENSP00000492581.1:p.Pro436Leu
ENST00000639975.1:c.1283C>T	ENSP00000492096.1:p.Pro428Leu
ENST00000640500.1:n.647C>T
ENST00000640739.1:n.6320C>T
ENST00000640910.1:c.811C>T
ENST00000640985.1:c.1286C>T	ENSP00000492293.1:p.Pro429Leu
ENST00000641017.1:c.1442C>T	ENSP00000493461.1:p.Pro481Leu
ENST00000356592.7:c.1373C>T	ENSP00000349000.3:p.Pro458Leu
ENST00000361925.8:c.1349C>T	ENSP00000354651.4:p.Pro450Leu
ENST00000414552.6:c.1493C>T	ENSP00000410732.2:p.Pro498Leu
ENST00000522990.5:c.*951C>T	ENSP00000430732.1:n.*951C>T
ENST00000523372.1:c.1470C>T	ENSP00000430124.1:n.1470C>T
NM_000816.3:c.1349C>T	NP_000807.2:p.Pro450Leu
NM_198903.2:c.1493C>T	NP_944493.2:p.Pro498Leu
NM_198904.2:c.1373C>T	NP_944494.1:p.Pro458Leu
NM_001375339.1:c.1364C>T	NP_001362268.1:p.Pro455Leu
NM_001375340.1:c.*207C>T	NP_001362269.1:n.*207C>T
NM_001375341.1:c.1370C>T	NP_001362270.1:p.Pro457Leu
NM_001375342.1:c.1346C>T	NP_001362271.1:p.Pro449Leu
NM_001375343.1:c.1469C>T	NP_001362272.1:p.Pro490Leu
NM_001375344.1:c.1412C>T	NP_001362273.1:p.Pro471Leu
NM_001375345.1:c.1283C>T	NP_001362274.1:p.Pro428Leu
NM_001375346.1:c.1307C>T	NP_001362275.1:p.Pro436Leu
NM_001375347.1:c.1286C>T	NP_001362276.1:p.Pro429Leu
NM_001375348.1:c.929C>T	NP_001362277.1:p.Pro310Leu
NM_001375349.1:c.1064C>T	NP_001362278.1:p.Pro355Leu
NM_001375350.1:c.953C>T	NP_001362279.1:p.Pro318Leu
NM_198904.3:c.1373C>T	NP_944494.1:p.Pro458Leu
NM_198904.4:c.1373C>T MANE Select	NP_944494.1:p.Pro458Leu