Canonical Allele Identifier: CA447691948

Gene: GABRG2

Linked Data

• gnomAD v4: 5-162153281-C-T
• MyVariant Identifiers: chr5:g.161580287C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153281C>T , CM000667.2:g.162153281C>T	GRCh38
NC_000005.9:g.161580287C>T , CM000667.1:g.161580287C>T	GRCh37
NC_000005.8:g.161512865C>T	NCBI36
NG_009290.1:g.90640C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1342C>T
ENST00000361925.9:c.1437C>T	ENSP00000354651.5:p.Ala479=
ENST00000523372.2:c.1400C>T
ENST00000638253.1:n.595C>T
ENST00000638552.1:c.1032C>T	ENSP00000491763.1:p.Ala344=
ENST00000638660.1:c.1056C>T	ENSP00000492869.1:p.Ala352=
ENST00000638772.1:c.*3938C>T	ENSP00000491557.1:n.*3938C>T
ENST00000638877.1:c.1218C>T
ENST00000639046.1:c.708C>T	ENSP00000492659.1:p.Ala236=
ENST00000639111.2:c.1317C>T	ENSP00000492125.2:p.Ala439=
ENST00000639213.2:c.1341C>T MANE Select	ENSP00000491909.2:p.Ala447=
ENST00000639278.1:c.2004C>T	ENSP00000491958.1:n.2004C>T
ENST00000639384.1:c.*1522C>T	ENSP00000491240.1:n.*1522C>T
ENST00000639424.1:c.*541C>T	ENSP00000491245.1:n.*541C>T
ENST00000639683.1:c.1275C>T	ENSP00000492581.1:p.Ala425=
ENST00000639975.1:c.1251C>T	ENSP00000492096.1:p.Ala417=
ENST00000640500.1:n.615C>T
ENST00000640739.1:n.6288C>T
ENST00000640910.1:c.779C>T
ENST00000640985.1:c.1254C>T	ENSP00000492293.1:p.Ala418=
ENST00000641017.1:c.1410C>T	ENSP00000493461.1:p.Ala470=
ENST00000356592.7:c.1341C>T	ENSP00000349000.3:p.Ala447=
ENST00000361925.8:c.1317C>T	ENSP00000354651.4:p.Ala439=
ENST00000414552.6:c.1461C>T	ENSP00000410732.2:p.Ala487=
ENST00000522990.5:c.*919C>T	ENSP00000430732.1:n.*919C>T
ENST00000523372.1:c.1438C>T	ENSP00000430124.1:n.1438C>T
NM_000816.3:c.1317C>T	NP_000807.2:p.Ala439=
NM_198903.2:c.1461C>T	NP_944493.2:p.Ala487=
NM_198904.2:c.1341C>T	NP_944494.1:p.Ala447=
NM_001375339.1:c.1332C>T	NP_001362268.1:p.Ala444=
NM_001375340.1:c.*175C>T	NP_001362269.1:n.*175C>T
NM_001375341.1:c.1338C>T	NP_001362270.1:p.Ala446=
NM_001375342.1:c.1314C>T	NP_001362271.1:p.Ala438=
NM_001375343.1:c.1437C>T	NP_001362272.1:p.Ala479=
NM_001375344.1:c.1380C>T	NP_001362273.1:p.Ala460=
NM_001375345.1:c.1251C>T	NP_001362274.1:p.Ala417=
NM_001375346.1:c.1275C>T	NP_001362275.1:p.Ala425=
NM_001375347.1:c.1254C>T	NP_001362276.1:p.Ala418=
NM_001375348.1:c.897C>T	NP_001362277.1:p.Ala299=
NM_001375349.1:c.1032C>T	NP_001362278.1:p.Ala344=
NM_001375350.1:c.921C>T	NP_001362279.1:p.Ala307=
NM_198904.3:c.1341C>T	NP_944494.1:p.Ala447=
NM_198904.4:c.1341C>T MANE Select	NP_944494.1:p.Ala447=