Canonical Allele Identifier: CA362184056

Gene: GABRG2

Linked Data

• MyVariant Identifiers: chr5:g.161580325C>A (hg19) ; chr5:g.162153319C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153319C>A , CM000667.2:g.162153319C>A	GRCh38
NC_000005.9:g.161580325C>A , CM000667.1:g.161580325C>A	GRCh37
NC_000005.8:g.161512903C>A	NCBI36
NG_009290.1:g.90678C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1380C>A
ENST00000361925.9:c.1475C>A	ENSP00000354651.5:p.Ala492Asp
ENST00000523372.2:c.1438C>A
ENST00000638253.1:n.633C>A
ENST00000638552.1:c.1070C>A	ENSP00000491763.1:p.Ala357Asp
ENST00000638660.1:c.1094C>A	ENSP00000492869.1:p.Ala365Asp
ENST00000638772.1:c.*3976C>A	ENSP00000491557.1:n.*3976C>A
ENST00000638877.1:c.1256C>A
ENST00000639046.1:c.746C>A	ENSP00000492659.1:p.Ala249Asp
ENST00000639111.2:c.1355C>A	ENSP00000492125.2:p.Ala452Asp
ENST00000639213.2:c.1379C>A MANE Select	ENSP00000491909.2:p.Ala460Asp
ENST00000639278.1:c.2042C>A	ENSP00000491958.1:n.2042C>A
ENST00000639384.1:c.*1560C>A	ENSP00000491240.1:n.*1560C>A
ENST00000639424.1:c.*579C>A	ENSP00000491245.1:n.*579C>A
ENST00000639683.1:c.1313C>A	ENSP00000492581.1:p.Ala438Asp
ENST00000639975.1:c.1289C>A	ENSP00000492096.1:p.Ala430Asp
ENST00000640500.1:n.653C>A
ENST00000640739.1:n.6326C>A
ENST00000640910.1:c.817C>A
ENST00000640985.1:c.1292C>A	ENSP00000492293.1:p.Ala431Asp
ENST00000641017.1:c.1448C>A	ENSP00000493461.1:p.Ala483Asp
ENST00000356592.7:c.1379C>A	ENSP00000349000.3:p.Ala460Asp
ENST00000361925.8:c.1355C>A	ENSP00000354651.4:p.Ala452Asp
ENST00000414552.6:c.1499C>A	ENSP00000410732.2:p.Ala500Asp
ENST00000522990.5:c.*957C>A	ENSP00000430732.1:n.*957C>A
ENST00000523372.1:c.1476C>A	ENSP00000430124.1:n.1476C>A
NM_000816.3:c.1355C>A	NP_000807.2:p.Ala452Asp
NM_198903.2:c.1499C>A	NP_944493.2:p.Ala500Asp
NM_198904.2:c.1379C>A	NP_944494.1:p.Ala460Asp
NM_001375339.1:c.1370C>A	NP_001362268.1:p.Ala457Asp
NM_001375340.1:c.*213C>A	NP_001362269.1:n.*213C>A
NM_001375341.1:c.1376C>A	NP_001362270.1:p.Ala459Asp
NM_001375342.1:c.1352C>A	NP_001362271.1:p.Ala451Asp
NM_001375343.1:c.1475C>A	NP_001362272.1:p.Ala492Asp
NM_001375344.1:c.1418C>A	NP_001362273.1:p.Ala473Asp
NM_001375345.1:c.1289C>A	NP_001362274.1:p.Ala430Asp
NM_001375346.1:c.1313C>A	NP_001362275.1:p.Ala438Asp
NM_001375347.1:c.1292C>A	NP_001362276.1:p.Ala431Asp
NM_001375348.1:c.935C>A	NP_001362277.1:p.Ala312Asp
NM_001375349.1:c.1070C>A	NP_001362278.1:p.Ala357Asp
NM_001375350.1:c.959C>A	NP_001362279.1:p.Ala320Asp
NM_198904.3:c.1379C>A	NP_944494.1:p.Ala460Asp
NM_198904.4:c.1379C>A MANE Select	NP_944494.1:p.Ala460Asp