Canonical Allele Identifier: CA131117674

Gene: GABRG2

Linked Data

• dbSNP Id: rs760834360
• gnomAD v4: 5-162153266-A-G
• MyVariant Identifiers: chr5:g.161580272A>G (hg19) ; chr5:g.162153266A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153266A>G , CM000667.2:g.162153266A>G	GRCh38
NC_000005.9:g.161580272A>G , CM000667.1:g.161580272A>G	GRCh37
NC_000005.8:g.161512850A>G	NCBI36
NG_009290.1:g.90625A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1327A>G
ENST00000361925.9:c.1422A>G	ENSP00000354651.5:p.Ile474Met
ENST00000523372.2:c.1385A>G
ENST00000638253.1:n.580A>G
ENST00000638552.1:c.1017A>G	ENSP00000491763.1:p.Ile339Met
ENST00000638660.1:c.1041A>G	ENSP00000492869.1:p.Ile347Met
ENST00000638772.1:c.*3923A>G	ENSP00000491557.1:n.*3923A>G
ENST00000638877.1:c.1203A>G
ENST00000639046.1:c.693A>G	ENSP00000492659.1:p.Ile231Met
ENST00000639111.2:c.1302A>G	ENSP00000492125.2:p.Ile434Met
ENST00000639213.2:c.1326A>G MANE Select	ENSP00000491909.2:p.Ile442Met
ENST00000639278.1:c.1989A>G	ENSP00000491958.1:n.1989A>G
ENST00000639384.1:c.*1507A>G	ENSP00000491240.1:n.*1507A>G
ENST00000639424.1:c.*526A>G	ENSP00000491245.1:n.*526A>G
ENST00000639683.1:c.1260A>G	ENSP00000492581.1:p.Ile420Met
ENST00000639975.1:c.1236A>G	ENSP00000492096.1:p.Ile412Met
ENST00000640500.1:n.600A>G
ENST00000640739.1:n.6273A>G
ENST00000640910.1:c.764A>G
ENST00000640985.1:c.1239A>G	ENSP00000492293.1:p.Ile413Met
ENST00000641017.1:c.1395A>G	ENSP00000493461.1:p.Ile465Met
ENST00000356592.7:c.1326A>G	ENSP00000349000.3:p.Ile442Met
ENST00000361925.8:c.1302A>G	ENSP00000354651.4:p.Ile434Met
ENST00000414552.6:c.1446A>G	ENSP00000410732.2:p.Ile482Met
ENST00000522990.5:c.*904A>G	ENSP00000430732.1:n.*904A>G
ENST00000523372.1:c.1423A>G	ENSP00000430124.1:n.1423A>G
NM_000816.3:c.1302A>G	NP_000807.2:p.Ile434Met
NM_198903.2:c.1446A>G	NP_944493.2:p.Ile482Met
NM_198904.2:c.1326A>G	NP_944494.1:p.Ile442Met
NM_001375339.1:c.1317A>G	NP_001362268.1:p.Ile439Met
NM_001375340.1:c.*160A>G	NP_001362269.1:n.*160A>G
NM_001375341.1:c.1323A>G	NP_001362270.1:p.Ile441Met
NM_001375342.1:c.1299A>G	NP_001362271.1:p.Ile433Met
NM_001375343.1:c.1422A>G	NP_001362272.1:p.Ile474Met
NM_001375344.1:c.1365A>G	NP_001362273.1:p.Ile455Met
NM_001375345.1:c.1236A>G	NP_001362274.1:p.Ile412Met
NM_001375346.1:c.1260A>G	NP_001362275.1:p.Ile420Met
NM_001375347.1:c.1239A>G	NP_001362276.1:p.Ile413Met
NM_001375348.1:c.882A>G	NP_001362277.1:p.Ile294Met
NM_001375349.1:c.1017A>G	NP_001362278.1:p.Ile339Met
NM_001375350.1:c.906A>G	NP_001362279.1:p.Ile302Met
NM_198904.3:c.1326A>G	NP_944494.1:p.Ile442Met
NM_198904.4:c.1326A>G MANE Select	NP_944494.1:p.Ile442Met