Canonical Allele Identifier: CA131117724

Gene: GABRG2

Linked Data

• dbSNP Id: rs563791011
• gnomAD v2: 5-161580891-C-G
• gnomAD v3: 5-162153885-C-G
• gnomAD v4: 5-162153885-C-G
• MyVariant Identifiers: chr5:g.161580891C>G (hg19) ; chr5:g.162153885C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153885C>G , CM000667.2:g.162153885C>G	GRCh38
NC_000005.9:g.161580891C>G , CM000667.1:g.161580891C>G	GRCh37
NC_000005.8:g.161513469C>G	NCBI36
NG_009290.1:g.91244C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1946C>G
ENST00000361925.9:c.*517C>G	ENSP00000354651.5:n.*517C>G
ENST00000638552.1:c.*517C>G	ENSP00000491763.1:n.*517C>G
ENST00000638660.1:c.*517C>G	ENSP00000492869.1:n.*517C>G
ENST00000638772.1:c.*4542C>G	ENSP00000491557.1:n.*4542C>G
ENST00000638877.1:c.1822C>G
ENST00000639046.1:c.*517C>G	ENSP00000492659.1:n.*517C>G
ENST00000639111.2:c.*517C>G	ENSP00000492125.2:n.*517C>G
ENST00000639213.2:c.*517C>G MANE Select	ENSP00000491909.2:n.*517C>G
ENST00000639278.1:c.2608C>G	ENSP00000491958.1:n.2608C>G
ENST00000639384.1:c.*2126C>G	ENSP00000491240.1:n.*2126C>G
ENST00000639424.1:c.*1145C>G	ENSP00000491245.1:n.*1145C>G
ENST00000639683.1:c.*517C>G	ENSP00000492581.1:n.*517C>G
ENST00000639975.1:c.*517C>G	ENSP00000492096.1:n.*517C>G
ENST00000640500.1:n.1219C>G
ENST00000640739.1:n.6892C>G
ENST00000640985.1:c.*517C>G	ENSP00000492293.1:n.*517C>G
ENST00000641017.1:c.2014C>G	ENSP00000493461.1:n.2014C>G
ENST00000356592.7:c.*517C>G	ENSP00000349000.3:n.*517C>G
ENST00000414552.6:c.*517C>G	ENSP00000410732.2:n.*517C>G
ENST00000522990.5:c.*1523C>G	ENSP00000430732.1:n.*1523C>G
NM_000816.3:c.*517C>G	NP_000807.2:n.*517C>G
NM_198903.2:c.*517C>G	NP_944493.2:n.*517C>G
NM_198904.2:c.*517C>G	NP_944494.1:n.*517C>G
NM_001375339.1:c.*517C>G	NP_001362268.1:n.*517C>G
NM_001375340.1:c.*779C>G	NP_001362269.1:n.*779C>G
NM_001375341.1:c.*517C>G	NP_001362270.1:n.*517C>G
NM_001375342.1:c.*517C>G	NP_001362271.1:n.*517C>G
NM_001375343.1:c.*517C>G	NP_001362272.1:n.*517C>G
NM_001375344.1:c.*517C>G	NP_001362273.1:n.*517C>G
NM_001375345.1:c.*517C>G	NP_001362274.1:n.*517C>G
NM_001375346.1:c.*517C>G	NP_001362275.1:n.*517C>G
NM_001375347.1:c.*517C>G	NP_001362276.1:n.*517C>G
NM_001375348.1:c.*517C>G	NP_001362277.1:n.*517C>G
NM_001375349.1:c.*517C>G	NP_001362278.1:n.*517C>G
NM_001375350.1:c.*517C>G	NP_001362279.1:n.*517C>G
NM_198904.3:c.*517C>G	NP_944494.1:n.*517C>G
NM_198904.4:c.*517C>G MANE Select	NP_944494.1:n.*517C>G