Canonical Allele Identifier: CA362184086

Gene: GABRG2

Linked Data

• MyVariant Identifiers: chr5:g.161580332C>G (hg19) ; chr5:g.162153326C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153326C>G , CM000667.2:g.162153326C>G	GRCh38
NC_000005.9:g.161580332C>G , CM000667.1:g.161580332C>G	GRCh37
NC_000005.8:g.161512910C>G	NCBI36
NG_009290.1:g.90685C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1387C>G
ENST00000361925.9:c.1482C>G	ENSP00000354651.5:p.Cys494Trp
ENST00000523372.2:c.1445C>G
ENST00000638253.1:n.640C>G
ENST00000638552.1:c.1077C>G	ENSP00000491763.1:p.Cys359Trp
ENST00000638660.1:c.1101C>G	ENSP00000492869.1:p.Cys367Trp
ENST00000638772.1:c.*3983C>G	ENSP00000491557.1:n.*3983C>G
ENST00000638877.1:c.1263C>G
ENST00000639046.1:c.753C>G	ENSP00000492659.1:p.Cys251Trp
ENST00000639111.2:c.1362C>G	ENSP00000492125.2:p.Cys454Trp
ENST00000639213.2:c.1386C>G MANE Select	ENSP00000491909.2:p.Cys462Trp
ENST00000639278.1:c.2049C>G	ENSP00000491958.1:n.2049C>G
ENST00000639384.1:c.*1567C>G	ENSP00000491240.1:n.*1567C>G
ENST00000639424.1:c.*586C>G	ENSP00000491245.1:n.*586C>G
ENST00000639683.1:c.1320C>G	ENSP00000492581.1:p.Cys440Trp
ENST00000639975.1:c.1296C>G	ENSP00000492096.1:p.Cys432Trp
ENST00000640500.1:n.660C>G
ENST00000640739.1:n.6333C>G
ENST00000640910.1:c.824C>G
ENST00000640985.1:c.1299C>G	ENSP00000492293.1:p.Cys433Trp
ENST00000641017.1:c.1455C>G	ENSP00000493461.1:p.Cys485Trp
ENST00000356592.7:c.1386C>G	ENSP00000349000.3:p.Cys462Trp
ENST00000361925.8:c.1362C>G	ENSP00000354651.4:p.Cys454Trp
ENST00000414552.6:c.1506C>G	ENSP00000410732.2:p.Cys502Trp
ENST00000522990.5:c.*964C>G	ENSP00000430732.1:n.*964C>G
ENST00000523372.1:c.1483C>G	ENSP00000430124.1:n.1483C>G
NM_000816.3:c.1362C>G	NP_000807.2:p.Cys454Trp
NM_198903.2:c.1506C>G	NP_944493.2:p.Cys502Trp
NM_198904.2:c.1386C>G	NP_944494.1:p.Cys462Trp
NM_001375339.1:c.1377C>G	NP_001362268.1:p.Cys459Trp
NM_001375340.1:c.*220C>G	NP_001362269.1:n.*220C>G
NM_001375341.1:c.1383C>G	NP_001362270.1:p.Cys461Trp
NM_001375342.1:c.1359C>G	NP_001362271.1:p.Cys453Trp
NM_001375343.1:c.1482C>G	NP_001362272.1:p.Cys494Trp
NM_001375344.1:c.1425C>G	NP_001362273.1:p.Cys475Trp
NM_001375345.1:c.1296C>G	NP_001362274.1:p.Cys432Trp
NM_001375346.1:c.1320C>G	NP_001362275.1:p.Cys440Trp
NM_001375347.1:c.1299C>G	NP_001362276.1:p.Cys433Trp
NM_001375348.1:c.942C>G	NP_001362277.1:p.Cys314Trp
NM_001375349.1:c.1077C>G	NP_001362278.1:p.Cys359Trp
NM_001375350.1:c.966C>G	NP_001362279.1:p.Cys322Trp
NM_198904.3:c.1386C>G	NP_944494.1:p.Cys462Trp
NM_198904.4:c.1386C>G MANE Select	NP_944494.1:p.Cys462Trp