Canonical Allele Identifier: CA362182528

Gene: GABRG2

Linked Data

• COSMIC: COSM5499512
• MyVariant Identifiers: chr5:g.161576223C>G (hg19) ; chr5:g.162149217C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162149217C>G , CM000667.2:g.162149217C>G	GRCh38
NC_000005.9:g.161576223C>G , CM000667.1:g.161576223C>G	GRCh37
NC_000005.8:g.161508801C>G	NCBI36
NG_009290.1:g.86576C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000356592.8:c.1033C>G
ENST00000361925.9:c.1152C>G	ENSP00000354651.5:p.Ile384Met
ENST00000523372.2:c.1115C>G
ENST00000638253.1:n.286C>G
ENST00000638552.1:c.747C>G	ENSP00000491763.1:p.Ile249Met
ENST00000638660.1:c.747C>G	ENSP00000492869.1:p.Ile249Met
ENST00000638772.1:c.1032C>G	ENSP00000491557.1:p.Ile344Met
ENST00000638877.1:c.909C>G
ENST00000639046.1:c.423C>G	ENSP00000492659.1:p.Ile141Met
ENST00000639111.2:c.1032C>G	ENSP00000492125.2:p.Ile344Met
ENST00000639213.2:c.1032C>G MANE Select	ENSP00000491909.2:p.Ile344Met
ENST00000639278.1:c.960C>G	ENSP00000491958.1:p.Ile320Met
ENST00000639384.1:c.1032C>G	ENSP00000491240.1:p.Ile344Met
ENST00000639424.1:c.*232C>G	ENSP00000491245.1:n.*232C>G
ENST00000639683.1:c.966C>G	ENSP00000492581.1:p.Ile322Met
ENST00000639975.1:c.966C>G	ENSP00000492096.1:p.Ile322Met
ENST00000640500.1:n.330C>G
ENST00000640574.1:c.747C>G	ENSP00000491582.1:p.Ile249Met
ENST00000640739.1:n.3563C>G
ENST00000640910.1:c.470C>G
ENST00000640985.1:c.945C>G	ENSP00000492293.1:p.Ile315Met
ENST00000641017.1:c.1032C>G	ENSP00000493461.1:p.Ile344Met
ENST00000356592.7:c.1032C>G	ENSP00000349000.3:p.Ile344Met
ENST00000361925.8:c.1032C>G	ENSP00000354651.4:p.Ile344Met
ENST00000414552.6:c.1152C>G	ENSP00000410732.2:p.Ile384Met
ENST00000522990.5:c.*634C>G	ENSP00000430732.1:n.*634C>G
ENST00000523372.1:c.1153C>G	ENSP00000430124.1:n.1153C>G
NM_000816.3:c.1032C>G	NP_000807.2:p.Ile344Met
NM_198903.2:c.1152C>G	NP_944493.2:p.Ile384Met
NM_198904.2:c.1032C>G	NP_944494.1:p.Ile344Met
NM_001375339.1:c.1023C>G	NP_001362268.1:p.Ile341Met
NM_001375340.1:c.923-2513C>G	NP_001362269.1:n.923-2513C>G
NM_001375341.1:c.1029C>G	NP_001362270.1:p.Ile343Met
NM_001375342.1:c.1029C>G	NP_001362271.1:p.Ile343Met
NM_001375343.1:c.1152C>G	NP_001362272.1:p.Ile384Met
NM_001375344.1:c.1071C>G	NP_001362273.1:p.Ile357Met
NM_001375345.1:c.966C>G	NP_001362274.1:p.Ile322Met
NM_001375346.1:c.966C>G	NP_001362275.1:p.Ile322Met
NM_001375347.1:c.945C>G	NP_001362276.1:p.Ile315Met
NM_001375348.1:c.612C>G	NP_001362277.1:p.Ile204Met
NM_001375349.1:c.747C>G	NP_001362278.1:p.Ile249Met
NM_001375350.1:c.612C>G	NP_001362279.1:p.Ile204Met
NM_198904.3:c.1032C>G	NP_944494.1:p.Ile344Met
NM_198904.4:c.1032C>G MANE Select	NP_944494.1:p.Ile344Met