Canonical Allele Identifier: CA362184267

Gene: GABRG2

Linked Data

• MyVariant Identifiers: chr5:g.161580369C>A (hg19) ; chr5:g.162153363C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153363C>A , CM000667.2:g.162153363C>A	GRCh38
NC_000005.9:g.161580369C>A , CM000667.1:g.161580369C>A	GRCh37
NC_000005.8:g.161512947C>A	NCBI36
NG_009290.1:g.90722C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1424C>A
ENST00000361925.9:c.1519C>A	ENSP00000354651.5:p.Leu507Met
ENST00000523372.2:c.1482C>A
ENST00000638253.1:n.677C>A
ENST00000638552.1:c.1114C>A	ENSP00000491763.1:p.Leu372Met
ENST00000638660.1:c.1138C>A	ENSP00000492869.1:p.Leu380Met
ENST00000638772.1:c.*4020C>A	ENSP00000491557.1:n.*4020C>A
ENST00000638877.1:c.1300C>A
ENST00000639046.1:c.790C>A	ENSP00000492659.1:p.Leu264Met
ENST00000639111.2:c.1399C>A	ENSP00000492125.2:p.Leu467Met
ENST00000639213.2:c.1423C>A MANE Select	ENSP00000491909.2:p.Leu475Met
ENST00000639278.1:c.2086C>A	ENSP00000491958.1:n.2086C>A
ENST00000639384.1:c.*1604C>A	ENSP00000491240.1:n.*1604C>A
ENST00000639424.1:c.*623C>A	ENSP00000491245.1:n.*623C>A
ENST00000639683.1:c.1357C>A	ENSP00000492581.1:p.Leu453Met
ENST00000639975.1:c.1333C>A	ENSP00000492096.1:p.Leu445Met
ENST00000640500.1:n.697C>A
ENST00000640739.1:n.6370C>A
ENST00000640910.1:c.861C>A
ENST00000640985.1:c.1336C>A	ENSP00000492293.1:p.Leu446Met
ENST00000641017.1:c.1492C>A	ENSP00000493461.1:p.Leu498Met
ENST00000356592.7:c.1423C>A	ENSP00000349000.3:p.Leu475Met
ENST00000361925.8:c.1399C>A	ENSP00000354651.4:p.Leu467Met
ENST00000414552.6:c.1543C>A	ENSP00000410732.2:p.Leu515Met
ENST00000522990.5:c.*1001C>A	ENSP00000430732.1:n.*1001C>A
ENST00000523372.1:c.1520C>A	ENSP00000430124.1:n.1520C>A
NM_000816.3:c.1399C>A	NP_000807.2:p.Leu467Met
NM_198903.2:c.1543C>A	NP_944493.2:p.Leu515Met
NM_198904.2:c.1423C>A	NP_944494.1:p.Leu475Met
NM_001375339.1:c.1414C>A	NP_001362268.1:p.Leu472Met
NM_001375340.1:c.*257C>A	NP_001362269.1:n.*257C>A
NM_001375341.1:c.1420C>A	NP_001362270.1:p.Leu474Met
NM_001375342.1:c.1396C>A	NP_001362271.1:p.Leu466Met
NM_001375343.1:c.1519C>A	NP_001362272.1:p.Leu507Met
NM_001375344.1:c.1462C>A	NP_001362273.1:p.Leu488Met
NM_001375345.1:c.1333C>A	NP_001362274.1:p.Leu445Met
NM_001375346.1:c.1357C>A	NP_001362275.1:p.Leu453Met
NM_001375347.1:c.1336C>A	NP_001362276.1:p.Leu446Met
NM_001375348.1:c.979C>A	NP_001362277.1:p.Leu327Met
NM_001375349.1:c.1114C>A	NP_001362278.1:p.Leu372Met
NM_001375350.1:c.1003C>A	NP_001362279.1:p.Leu335Met
NM_198904.3:c.1423C>A	NP_944494.1:p.Leu475Met
NM_198904.4:c.1423C>A MANE Select	NP_944494.1:p.Leu475Met