Canonical Allele Identifier: CA362183990

Gene: GABRG2

Linked Data

• MyVariant Identifiers: chr5:g.161580311C>G (hg19) ; chr5:g.162153305C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153305C>G , CM000667.2:g.162153305C>G	GRCh38
NC_000005.9:g.161580311C>G , CM000667.1:g.161580311C>G	GRCh37
NC_000005.8:g.161512889C>G	NCBI36
NG_009290.1:g.90664C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1366C>G
ENST00000361925.9:c.1461C>G	ENSP00000354651.5:p.Ile487Met
ENST00000523372.2:c.1424C>G
ENST00000638253.1:n.619C>G
ENST00000638552.1:c.1056C>G	ENSP00000491763.1:p.Ile352Met
ENST00000638660.1:c.1080C>G	ENSP00000492869.1:p.Ile360Met
ENST00000638772.1:c.*3962C>G	ENSP00000491557.1:n.*3962C>G
ENST00000638877.1:c.1242C>G
ENST00000639046.1:c.732C>G	ENSP00000492659.1:p.Ile244Met
ENST00000639111.2:c.1341C>G	ENSP00000492125.2:p.Ile447Met
ENST00000639213.2:c.1365C>G MANE Select	ENSP00000491909.2:p.Ile455Met
ENST00000639278.1:c.2028C>G	ENSP00000491958.1:n.2028C>G
ENST00000639384.1:c.*1546C>G	ENSP00000491240.1:n.*1546C>G
ENST00000639424.1:c.*565C>G	ENSP00000491245.1:n.*565C>G
ENST00000639683.1:c.1299C>G	ENSP00000492581.1:p.Ile433Met
ENST00000639975.1:c.1275C>G	ENSP00000492096.1:p.Ile425Met
ENST00000640500.1:n.639C>G
ENST00000640739.1:n.6312C>G
ENST00000640910.1:c.803C>G
ENST00000640985.1:c.1278C>G	ENSP00000492293.1:p.Ile426Met
ENST00000641017.1:c.1434C>G	ENSP00000493461.1:p.Ile478Met
ENST00000356592.7:c.1365C>G	ENSP00000349000.3:p.Ile455Met
ENST00000361925.8:c.1341C>G	ENSP00000354651.4:p.Ile447Met
ENST00000414552.6:c.1485C>G	ENSP00000410732.2:p.Ile495Met
ENST00000522990.5:c.*943C>G	ENSP00000430732.1:n.*943C>G
ENST00000523372.1:c.1462C>G	ENSP00000430124.1:n.1462C>G
NM_000816.3:c.1341C>G	NP_000807.2:p.Ile447Met
NM_198903.2:c.1485C>G	NP_944493.2:p.Ile495Met
NM_198904.2:c.1365C>G	NP_944494.1:p.Ile455Met
NM_001375339.1:c.1356C>G	NP_001362268.1:p.Ile452Met
NM_001375340.1:c.*199C>G	NP_001362269.1:n.*199C>G
NM_001375341.1:c.1362C>G	NP_001362270.1:p.Ile454Met
NM_001375342.1:c.1338C>G	NP_001362271.1:p.Ile446Met
NM_001375343.1:c.1461C>G	NP_001362272.1:p.Ile487Met
NM_001375344.1:c.1404C>G	NP_001362273.1:p.Ile468Met
NM_001375345.1:c.1275C>G	NP_001362274.1:p.Ile425Met
NM_001375346.1:c.1299C>G	NP_001362275.1:p.Ile433Met
NM_001375347.1:c.1278C>G	NP_001362276.1:p.Ile426Met
NM_001375348.1:c.921C>G	NP_001362277.1:p.Ile307Met
NM_001375349.1:c.1056C>G	NP_001362278.1:p.Ile352Met
NM_001375350.1:c.945C>G	NP_001362279.1:p.Ile315Met
NM_198904.3:c.1365C>G	NP_944494.1:p.Ile455Met
NM_198904.4:c.1365C>G MANE Select	NP_944494.1:p.Ile455Met