Canonical Allele Identifier: CA362184133

Gene: GABRG2

Linked Data

• dbSNP Id: rs1333747173
• gnomAD v4: 5-162153336-C-G
• MyVariant Identifiers: chr5:g.161580342C>G (hg19) ; chr5:g.162153336C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153336C>G , CM000667.2:g.162153336C>G	GRCh38
NC_000005.9:g.161580342C>G , CM000667.1:g.161580342C>G	GRCh37
NC_000005.8:g.161512920C>G	NCBI36
NG_009290.1:g.90695C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1397C>G
ENST00000361925.9:c.1492C>G	ENSP00000354651.5:p.Leu498Val
ENST00000523372.2:c.1455C>G
ENST00000638253.1:n.650C>G
ENST00000638552.1:c.1087C>G	ENSP00000491763.1:p.Leu363Val
ENST00000638660.1:c.1111C>G	ENSP00000492869.1:p.Leu371Val
ENST00000638772.1:c.*3993C>G	ENSP00000491557.1:n.*3993C>G
ENST00000638877.1:c.1273C>G
ENST00000639046.1:c.763C>G	ENSP00000492659.1:p.Leu255Val
ENST00000639111.2:c.1372C>G	ENSP00000492125.2:p.Leu458Val
ENST00000639213.2:c.1396C>G MANE Select	ENSP00000491909.2:p.Leu466Val
ENST00000639278.1:c.2059C>G	ENSP00000491958.1:n.2059C>G
ENST00000639384.1:c.*1577C>G	ENSP00000491240.1:n.*1577C>G
ENST00000639424.1:c.*596C>G	ENSP00000491245.1:n.*596C>G
ENST00000639683.1:c.1330C>G	ENSP00000492581.1:p.Leu444Val
ENST00000639975.1:c.1306C>G	ENSP00000492096.1:p.Leu436Val
ENST00000640500.1:n.670C>G
ENST00000640739.1:n.6343C>G
ENST00000640910.1:c.834C>G
ENST00000640985.1:c.1309C>G	ENSP00000492293.1:p.Leu437Val
ENST00000641017.1:c.1465C>G	ENSP00000493461.1:p.Leu489Val
ENST00000356592.7:c.1396C>G	ENSP00000349000.3:p.Leu466Val
ENST00000361925.8:c.1372C>G	ENSP00000354651.4:p.Leu458Val
ENST00000414552.6:c.1516C>G	ENSP00000410732.2:p.Leu506Val
ENST00000522990.5:c.*974C>G	ENSP00000430732.1:n.*974C>G
ENST00000523372.1:c.1493C>G	ENSP00000430124.1:n.1493C>G
NM_000816.3:c.1372C>G	NP_000807.2:p.Leu458Val
NM_198903.2:c.1516C>G	NP_944493.2:p.Leu506Val
NM_198904.2:c.1396C>G	NP_944494.1:p.Leu466Val
NM_001375339.1:c.1387C>G	NP_001362268.1:p.Leu463Val
NM_001375340.1:c.*230C>G	NP_001362269.1:n.*230C>G
NM_001375341.1:c.1393C>G	NP_001362270.1:p.Leu465Val
NM_001375342.1:c.1369C>G	NP_001362271.1:p.Leu457Val
NM_001375343.1:c.1492C>G	NP_001362272.1:p.Leu498Val
NM_001375344.1:c.1435C>G	NP_001362273.1:p.Leu479Val
NM_001375345.1:c.1306C>G	NP_001362274.1:p.Leu436Val
NM_001375346.1:c.1330C>G	NP_001362275.1:p.Leu444Val
NM_001375347.1:c.1309C>G	NP_001362276.1:p.Leu437Val
NM_001375348.1:c.952C>G	NP_001362277.1:p.Leu318Val
NM_001375349.1:c.1087C>G	NP_001362278.1:p.Leu363Val
NM_001375350.1:c.976C>G	NP_001362279.1:p.Leu326Val
NM_198904.3:c.1396C>G	NP_944494.1:p.Leu466Val
NM_198904.4:c.1396C>G MANE Select	NP_944494.1:p.Leu466Val