Canonical Allele Identifier: CA362185121

Gene: GABRG2

Linked Data

• ClinVar Variation Id: 495274
• ClinVar RCV Id: RCV000585838
• dbSNP Id: rs1554098226
• MyVariant Identifiers: chr5:g.161530967G>A (hg19) ; chr5:g.162103961G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162103961G>A , CM000667.2:g.162103961G>A	GRCh38
NC_000005.9:g.161530967G>A , CM000667.1:g.161530967G>A	GRCh37
NC_000005.8:g.161463545G>A	NCBI36
NG_009290.1:g.41320G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000356592.8:c.666G>A
ENST00000361925.9:c.824G>A	ENSP00000354651.5:p.Trp275Ter
ENST00000522053.2:n.595G>A
ENST00000523372.2:c.787G>A
ENST00000638552.1:c.419G>A	ENSP00000491763.1:p.Trp140Ter
ENST00000638660.1:c.419G>A	ENSP00000492869.1:p.Trp140Ter
ENST00000638772.1:c.704G>A	ENSP00000491557.1:p.Trp235Ter
ENST00000638782.1:n.766G>A
ENST00000638877.1:c.581G>A
ENST00000639046.1:c.95G>A	ENSP00000492659.1:p.Trp32Ter
ENST00000639111.2:c.704G>A	ENSP00000492125.2:p.Trp235Ter
ENST00000639213.2:c.704G>A MANE Select	ENSP00000491909.2:p.Trp235Ter
ENST00000639278.1:c.632G>A	ENSP00000491958.1:p.Trp211Ter
ENST00000639384.1:c.704G>A	ENSP00000491240.1:p.Trp235Ter
ENST00000639424.1:c.107+35855G>A	ENSP00000491245.1:n.107+35855G>A
ENST00000639683.1:c.638G>A	ENSP00000492581.1:p.Trp213Ter
ENST00000639975.1:c.638G>A	ENSP00000492096.1:p.Trp213Ter
ENST00000640574.1:c.419G>A	ENSP00000491582.1:p.Trp140Ter
ENST00000640739.1:n.3235G>A
ENST00000640910.1:c.142G>A
ENST00000640985.1:c.617G>A	ENSP00000492293.1:p.Trp206Ter
ENST00000641017.1:c.704G>A	ENSP00000493461.1:p.Trp235Ter
ENST00000356592.7:c.704G>A	ENSP00000349000.3:p.Trp235Ter
ENST00000361925.8:c.704G>A	ENSP00000354651.4:p.Trp235Ter
ENST00000414552.6:c.824G>A	ENSP00000410732.2:p.Trp275Ter
ENST00000522053.1:c.419G>A	ENSP00000430182.1:p.Trp140Ter
ENST00000522990.5:c.*306G>A	ENSP00000430732.1:n.*306G>A
ENST00000523372.1:c.825G>A	ENSP00000430124.1:n.825G>A
NM_000816.3:c.704G>A	NP_000807.2:p.Trp235Ter
NM_198903.2:c.824G>A	NP_944493.2:p.Trp275Ter
NM_198904.2:c.704G>A	NP_944494.1:p.Trp235Ter
NM_001375339.1:c.695G>A	NP_001362268.1:p.Trp232Ter
NM_001375340.1:c.704G>A	NP_001362269.1:p.Trp235Ter
NM_001375341.1:c.704G>A	NP_001362270.1:p.Trp235Ter
NM_001375342.1:c.704G>A	NP_001362271.1:p.Trp235Ter
NM_001375343.1:c.824G>A	NP_001362272.1:p.Trp275Ter
NM_001375344.1:c.704G>A	NP_001362273.1:p.Trp235Ter
NM_001375345.1:c.638G>A	NP_001362274.1:p.Trp213Ter
NM_001375346.1:c.638G>A	NP_001362275.1:p.Trp213Ter
NM_001375347.1:c.617G>A	NP_001362276.1:p.Trp206Ter
NM_001375348.1:c.284G>A	NP_001362277.1:p.Trp95Ter
NM_001375349.1:c.419G>A	NP_001362278.1:p.Trp140Ter
NM_001375350.1:c.284G>A	NP_001362279.1:p.Trp95Ter
NM_198904.3:c.704G>A	NP_944494.1:p.Trp235Ter
NM_198904.4:c.704G>A MANE Select	NP_944494.1:p.Trp235Ter