Canonical Allele Identifier: CA362182326

Gene: GABRG2

Linked Data

• MyVariant Identifiers: chr5:g.161576129T>G (hg19) ; chr5:g.162149123T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162149123T>G , CM000667.2:g.162149123T>G	GRCh38
NC_000005.9:g.161576129T>G , CM000667.1:g.161576129T>G	GRCh37
NC_000005.8:g.161508707T>G	NCBI36
NG_009290.1:g.86482T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000356592.8:c.939T>G
ENST00000361925.9:c.1058T>G	ENSP00000354651.5:p.Leu353Arg
ENST00000522053.2:n.829T>G
ENST00000523372.2:c.1021T>G
ENST00000638253.1:n.192T>G
ENST00000638552.1:c.653T>G	ENSP00000491763.1:p.Leu218Arg
ENST00000638660.1:c.653T>G	ENSP00000492869.1:p.Leu218Arg
ENST00000638772.1:c.938T>G	ENSP00000491557.1:p.Leu313Arg
ENST00000638877.1:c.815T>G
ENST00000639046.1:c.329T>G	ENSP00000492659.1:p.Leu110Arg
ENST00000639111.2:c.938T>G	ENSP00000492125.2:p.Leu313Arg
ENST00000639213.2:c.938T>G MANE Select	ENSP00000491909.2:p.Leu313Arg
ENST00000639278.1:c.866T>G	ENSP00000491958.1:p.Leu289Arg
ENST00000639384.1:c.938T>G	ENSP00000491240.1:p.Leu313Arg
ENST00000639424.1:c.*138T>G	ENSP00000491245.1:n.*138T>G
ENST00000639683.1:c.872T>G	ENSP00000492581.1:p.Leu291Arg
ENST00000639975.1:c.872T>G	ENSP00000492096.1:p.Leu291Arg
ENST00000640500.1:n.236T>G
ENST00000640574.1:c.653T>G	ENSP00000491582.1:p.Leu218Arg
ENST00000640739.1:n.3469T>G
ENST00000640910.1:c.376T>G
ENST00000640985.1:c.851T>G	ENSP00000492293.1:p.Leu284Arg
ENST00000641017.1:c.938T>G	ENSP00000493461.1:p.Leu313Arg
ENST00000356592.7:c.938T>G	ENSP00000349000.3:p.Leu313Arg
ENST00000361925.8:c.938T>G	ENSP00000354651.4:p.Leu313Arg
ENST00000414552.6:c.1058T>G	ENSP00000410732.2:p.Leu353Arg
ENST00000522053.1:c.653T>G	ENSP00000430182.1:p.Leu218Arg
ENST00000522990.5:c.*540T>G	ENSP00000430732.1:n.*540T>G
ENST00000523372.1:c.1059T>G	ENSP00000430124.1:n.1059T>G
NM_000816.3:c.938T>G	NP_000807.2:p.Leu313Arg
NM_198903.2:c.1058T>G	NP_944493.2:p.Leu353Arg
NM_198904.2:c.938T>G	NP_944494.1:p.Leu313Arg
NM_001375339.1:c.929T>G	NP_001362268.1:p.Leu310Arg
NM_001375340.1:c.923-2607T>G	NP_001362269.1:n.923-2607T>G
NM_001375341.1:c.935T>G	NP_001362270.1:p.Leu312Arg
NM_001375342.1:c.935T>G	NP_001362271.1:p.Leu312Arg
NM_001375343.1:c.1058T>G	NP_001362272.1:p.Leu353Arg
NM_001375344.1:c.977T>G	NP_001362273.1:p.Leu326Arg
NM_001375345.1:c.872T>G	NP_001362274.1:p.Leu291Arg
NM_001375346.1:c.872T>G	NP_001362275.1:p.Leu291Arg
NM_001375347.1:c.851T>G	NP_001362276.1:p.Leu284Arg
NM_001375348.1:c.518T>G	NP_001362277.1:p.Leu173Arg
NM_001375349.1:c.653T>G	NP_001362278.1:p.Leu218Arg
NM_001375350.1:c.518T>G	NP_001362279.1:p.Leu173Arg
NM_198904.3:c.938T>G	NP_944494.1:p.Leu313Arg
NM_198904.4:c.938T>G MANE Select	NP_944494.1:p.Leu313Arg