Canonical Allele Identifier: CA362182391

Gene: GABRG2

Linked Data

• MyVariant Identifiers: chr5:g.161576161A>G (hg19) ; chr5:g.162149155A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162149155A>G , CM000667.2:g.162149155A>G	GRCh38
NC_000005.9:g.161576161A>G , CM000667.1:g.161576161A>G	GRCh37
NC_000005.8:g.161508739A>G	NCBI36
NG_009290.1:g.86514A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.971A>G
ENST00000361925.9:c.1090A>G	ENSP00000354651.5:p.Lys364Glu
ENST00000522053.2:n.861A>G
ENST00000523372.2:c.1053A>G
ENST00000638253.1:n.224A>G
ENST00000638552.1:c.685A>G	ENSP00000491763.1:p.Lys229Glu
ENST00000638660.1:c.685A>G	ENSP00000492869.1:p.Lys229Glu
ENST00000638772.1:c.970A>G	ENSP00000491557.1:p.Lys324Glu
ENST00000638877.1:c.847A>G
ENST00000639046.1:c.361A>G	ENSP00000492659.1:p.Lys121Glu
ENST00000639111.2:c.970A>G	ENSP00000492125.2:p.Lys324Glu
ENST00000639213.2:c.970A>G MANE Select	ENSP00000491909.2:p.Lys324Glu
ENST00000639278.1:c.898A>G	ENSP00000491958.1:p.Lys300Glu
ENST00000639384.1:c.970A>G	ENSP00000491240.1:p.Lys324Glu
ENST00000639424.1:c.*170A>G	ENSP00000491245.1:n.*170A>G
ENST00000639683.1:c.904A>G	ENSP00000492581.1:p.Lys302Glu
ENST00000639975.1:c.904A>G	ENSP00000492096.1:p.Lys302Glu
ENST00000640500.1:n.268A>G
ENST00000640574.1:c.685A>G	ENSP00000491582.1:p.Lys229Glu
ENST00000640739.1:n.3501A>G
ENST00000640910.1:c.408A>G
ENST00000640985.1:c.883A>G	ENSP00000492293.1:p.Lys295Glu
ENST00000641017.1:c.970A>G	ENSP00000493461.1:p.Lys324Glu
ENST00000356592.7:c.970A>G	ENSP00000349000.3:p.Lys324Glu
ENST00000361925.8:c.970A>G	ENSP00000354651.4:p.Lys324Glu
ENST00000414552.6:c.1090A>G	ENSP00000410732.2:p.Lys364Glu
ENST00000522990.5:c.*572A>G	ENSP00000430732.1:n.*572A>G
ENST00000523372.1:c.1091A>G	ENSP00000430124.1:n.1091A>G
NM_000816.3:c.970A>G	NP_000807.2:p.Lys324Glu
NM_198903.2:c.1090A>G	NP_944493.2:p.Lys364Glu
NM_198904.2:c.970A>G	NP_944494.1:p.Lys324Glu
NM_001375339.1:c.961A>G	NP_001362268.1:p.Lys321Glu
NM_001375340.1:c.923-2575A>G	NP_001362269.1:n.923-2575A>G
NM_001375341.1:c.967A>G	NP_001362270.1:p.Lys323Glu
NM_001375342.1:c.967A>G	NP_001362271.1:p.Lys323Glu
NM_001375343.1:c.1090A>G	NP_001362272.1:p.Lys364Glu
NM_001375344.1:c.1009A>G	NP_001362273.1:p.Lys337Glu
NM_001375345.1:c.904A>G	NP_001362274.1:p.Lys302Glu
NM_001375346.1:c.904A>G	NP_001362275.1:p.Lys302Glu
NM_001375347.1:c.883A>G	NP_001362276.1:p.Lys295Glu
NM_001375348.1:c.550A>G	NP_001362277.1:p.Lys184Glu
NM_001375349.1:c.685A>G	NP_001362278.1:p.Lys229Glu
NM_001375350.1:c.550A>G	NP_001362279.1:p.Lys184Glu
NM_198904.3:c.970A>G	NP_944494.1:p.Lys324Glu
NM_198904.4:c.970A>G MANE Select	NP_944494.1:p.Lys324Glu