Canonical Allele Identifier: CA362183556

Gene: GABRG2

Linked Data

• gnomAD v4: 5-162153189-C-G
• MyVariant Identifiers: chr5:g.161580195C>G (hg19) ; chr5:g.162153189C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153189C>G , CM000667.2:g.162153189C>G	GRCh38
NC_000005.9:g.161580195C>G , CM000667.1:g.161580195C>G	GRCh37
NC_000005.8:g.161512773C>G	NCBI36
NG_009290.1:g.90548C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1250C>G
ENST00000361925.9:c.1345C>G	ENSP00000354651.5:p.Leu449Val
ENST00000523372.2:c.1308C>G
ENST00000638253.1:n.503C>G
ENST00000638552.1:c.940C>G	ENSP00000491763.1:p.Leu314Val
ENST00000638660.1:c.964C>G	ENSP00000492869.1:p.Leu322Val
ENST00000638772.1:c.*3846C>G	ENSP00000491557.1:n.*3846C>G
ENST00000638877.1:c.1126C>G
ENST00000639046.1:c.616C>G	ENSP00000492659.1:p.Leu206Val
ENST00000639111.2:c.1225C>G	ENSP00000492125.2:p.Leu409Val
ENST00000639213.2:c.1249C>G MANE Select	ENSP00000491909.2:p.Leu417Val
ENST00000639278.1:c.1912C>G	ENSP00000491958.1:n.1912C>G
ENST00000639384.1:c.*1430C>G	ENSP00000491240.1:n.*1430C>G
ENST00000639424.1:c.*449C>G	ENSP00000491245.1:n.*449C>G
ENST00000639683.1:c.1183C>G	ENSP00000492581.1:p.Leu395Val
ENST00000639975.1:c.1159C>G	ENSP00000492096.1:p.Leu387Val
ENST00000640500.1:n.523C>G
ENST00000640739.1:n.6196C>G
ENST00000640910.1:c.687C>G
ENST00000640985.1:c.1162C>G	ENSP00000492293.1:p.Leu388Val
ENST00000641017.1:c.1318C>G	ENSP00000493461.1:p.Leu440Val
ENST00000356592.7:c.1249C>G	ENSP00000349000.3:p.Leu417Val
ENST00000361925.8:c.1225C>G	ENSP00000354651.4:p.Leu409Val
ENST00000414552.6:c.1369C>G	ENSP00000410732.2:p.Leu457Val
ENST00000522990.5:c.*827C>G	ENSP00000430732.1:n.*827C>G
ENST00000523372.1:c.1346C>G	ENSP00000430124.1:n.1346C>G
NM_000816.3:c.1225C>G	NP_000807.2:p.Leu409Val
NM_198903.2:c.1369C>G	NP_944493.2:p.Leu457Val
NM_198904.2:c.1249C>G	NP_944494.1:p.Leu417Val
NM_001375339.1:c.1240C>G	NP_001362268.1:p.Leu414Val
NM_001375340.1:c.*83C>G	NP_001362269.1:n.*83C>G
NM_001375341.1:c.1246C>G	NP_001362270.1:p.Leu416Val
NM_001375342.1:c.1222C>G	NP_001362271.1:p.Leu408Val
NM_001375343.1:c.1345C>G	NP_001362272.1:p.Leu449Val
NM_001375344.1:c.1288C>G	NP_001362273.1:p.Leu430Val
NM_001375345.1:c.1159C>G	NP_001362274.1:p.Leu387Val
NM_001375346.1:c.1183C>G	NP_001362275.1:p.Leu395Val
NM_001375347.1:c.1162C>G	NP_001362276.1:p.Leu388Val
NM_001375348.1:c.805C>G	NP_001362277.1:p.Leu269Val
NM_001375349.1:c.940C>G	NP_001362278.1:p.Leu314Val
NM_001375350.1:c.829C>G	NP_001362279.1:p.Leu277Val
NM_198904.3:c.1249C>G	NP_944494.1:p.Leu417Val
NM_198904.4:c.1249C>G MANE Select	NP_944494.1:p.Leu417Val