Canonical Allele Identifier: CA362184173

Gene: GABRG2

Linked Data

• gnomAD v4: 5-162153345-T-G
• MyVariant Identifiers: chr5:g.161580351T>G (hg19) ; chr5:g.162153345T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153345T>G , CM000667.2:g.162153345T>G	GRCh38
NC_000005.9:g.161580351T>G , CM000667.1:g.161580351T>G	GRCh37
NC_000005.8:g.161512929T>G	NCBI36
NG_009290.1:g.90704T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1406T>G
ENST00000361925.9:c.1501T>G	ENSP00000354651.5:p.Trp501Gly
ENST00000523372.2:c.1464T>G
ENST00000638253.1:n.659T>G
ENST00000638552.1:c.1096T>G	ENSP00000491763.1:p.Trp366Gly
ENST00000638660.1:c.1120T>G	ENSP00000492869.1:p.Trp374Gly
ENST00000638772.1:c.*4002T>G	ENSP00000491557.1:n.*4002T>G
ENST00000638877.1:c.1282T>G
ENST00000639046.1:c.772T>G	ENSP00000492659.1:p.Trp258Gly
ENST00000639111.2:c.1381T>G	ENSP00000492125.2:p.Trp461Gly
ENST00000639213.2:c.1405T>G MANE Select	ENSP00000491909.2:p.Trp469Gly
ENST00000639278.1:c.2068T>G	ENSP00000491958.1:n.2068T>G
ENST00000639384.1:c.*1586T>G	ENSP00000491240.1:n.*1586T>G
ENST00000639424.1:c.*605T>G	ENSP00000491245.1:n.*605T>G
ENST00000639683.1:c.1339T>G	ENSP00000492581.1:p.Trp447Gly
ENST00000639975.1:c.1315T>G	ENSP00000492096.1:p.Trp439Gly
ENST00000640500.1:n.679T>G
ENST00000640739.1:n.6352T>G
ENST00000640910.1:c.843T>G
ENST00000640985.1:c.1318T>G	ENSP00000492293.1:p.Trp440Gly
ENST00000641017.1:c.1474T>G	ENSP00000493461.1:p.Trp492Gly
ENST00000356592.7:c.1405T>G	ENSP00000349000.3:p.Trp469Gly
ENST00000361925.8:c.1381T>G	ENSP00000354651.4:p.Trp461Gly
ENST00000414552.6:c.1525T>G	ENSP00000410732.2:p.Trp509Gly
ENST00000522990.5:c.*983T>G	ENSP00000430732.1:n.*983T>G
ENST00000523372.1:c.1502T>G	ENSP00000430124.1:n.1502T>G
NM_000816.3:c.1381T>G	NP_000807.2:p.Trp461Gly
NM_198903.2:c.1525T>G	NP_944493.2:p.Trp509Gly
NM_198904.2:c.1405T>G	NP_944494.1:p.Trp469Gly
NM_001375339.1:c.1396T>G	NP_001362268.1:p.Trp466Gly
NM_001375340.1:c.*239T>G	NP_001362269.1:n.*239T>G
NM_001375341.1:c.1402T>G	NP_001362270.1:p.Trp468Gly
NM_001375342.1:c.1378T>G	NP_001362271.1:p.Trp460Gly
NM_001375343.1:c.1501T>G	NP_001362272.1:p.Trp501Gly
NM_001375344.1:c.1444T>G	NP_001362273.1:p.Trp482Gly
NM_001375345.1:c.1315T>G	NP_001362274.1:p.Trp439Gly
NM_001375346.1:c.1339T>G	NP_001362275.1:p.Trp447Gly
NM_001375347.1:c.1318T>G	NP_001362276.1:p.Trp440Gly
NM_001375348.1:c.961T>G	NP_001362277.1:p.Trp321Gly
NM_001375349.1:c.1096T>G	NP_001362278.1:p.Trp366Gly
NM_001375350.1:c.985T>G	NP_001362279.1:p.Trp329Gly
NM_198904.3:c.1405T>G	NP_944494.1:p.Trp469Gly
NM_198904.4:c.1405T>G MANE Select	NP_944494.1:p.Trp469Gly