Canonical Allele Identifier: CA447610265

Gene: GABRG2

Linked Data

• ClinVar Variation Id: 1130642
• ClinVar RCV Id: RCV001464219
• dbSNP Id: rs1359283950
• gnomAD v3: 5-162149166-C-G
• gnomAD v4: 5-162149166-C-G
• MyVariant Identifiers: chr5:g.161576172C>G (hg19) ; chr5:g.162149166C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162149166C>G , CM000667.2:g.162149166C>G	GRCh38
NC_000005.9:g.161576172C>G , CM000667.1:g.161576172C>G	GRCh37
NC_000005.8:g.161508750C>G	NCBI36
NG_009290.1:g.86525C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.982C>G
ENST00000361925.9:c.1101C>G	ENSP00000354651.5:p.Pro367=
ENST00000522053.2:n.872C>G
ENST00000523372.2:c.1064C>G
ENST00000638253.1:n.235C>G
ENST00000638552.1:c.696C>G	ENSP00000491763.1:p.Pro232=
ENST00000638660.1:c.696C>G	ENSP00000492869.1:p.Pro232=
ENST00000638772.1:c.981C>G	ENSP00000491557.1:p.Pro327=
ENST00000638877.1:c.858C>G
ENST00000639046.1:c.372C>G	ENSP00000492659.1:p.Pro124=
ENST00000639111.2:c.981C>G	ENSP00000492125.2:p.Pro327=
ENST00000639213.2:c.981C>G MANE Select	ENSP00000491909.2:p.Pro327=
ENST00000639278.1:c.909C>G	ENSP00000491958.1:p.Pro303=
ENST00000639384.1:c.981C>G	ENSP00000491240.1:p.Pro327=
ENST00000639424.1:c.*181C>G	ENSP00000491245.1:n.*181C>G
ENST00000639683.1:c.915C>G	ENSP00000492581.1:p.Pro305=
ENST00000639975.1:c.915C>G	ENSP00000492096.1:p.Pro305=
ENST00000640500.1:n.279C>G
ENST00000640574.1:c.696C>G	ENSP00000491582.1:p.Pro232=
ENST00000640739.1:n.3512C>G
ENST00000640910.1:c.419C>G
ENST00000640985.1:c.894C>G	ENSP00000492293.1:p.Pro298=
ENST00000641017.1:c.981C>G	ENSP00000493461.1:p.Pro327=
ENST00000356592.7:c.981C>G	ENSP00000349000.3:p.Pro327=
ENST00000361925.8:c.981C>G	ENSP00000354651.4:p.Pro327=
ENST00000414552.6:c.1101C>G	ENSP00000410732.2:p.Pro367=
ENST00000522990.5:c.*583C>G	ENSP00000430732.1:n.*583C>G
ENST00000523372.1:c.1102C>G	ENSP00000430124.1:n.1102C>G
NM_000816.3:c.981C>G	NP_000807.2:p.Pro327=
NM_198903.2:c.1101C>G	NP_944493.2:p.Pro367=
NM_198904.2:c.981C>G	NP_944494.1:p.Pro327=
NM_001375339.1:c.972C>G	NP_001362268.1:p.Pro324=
NM_001375340.1:c.923-2564C>G	NP_001362269.1:n.923-2564C>G
NM_001375341.1:c.978C>G	NP_001362270.1:p.Pro326=
NM_001375342.1:c.978C>G	NP_001362271.1:p.Pro326=
NM_001375343.1:c.1101C>G	NP_001362272.1:p.Pro367=
NM_001375344.1:c.1020C>G	NP_001362273.1:p.Pro340=
NM_001375345.1:c.915C>G	NP_001362274.1:p.Pro305=
NM_001375346.1:c.915C>G	NP_001362275.1:p.Pro305=
NM_001375347.1:c.894C>G	NP_001362276.1:p.Pro298=
NM_001375348.1:c.561C>G	NP_001362277.1:p.Pro187=
NM_001375349.1:c.696C>G	NP_001362278.1:p.Pro232=
NM_001375350.1:c.561C>G	NP_001362279.1:p.Pro187=
NM_198904.3:c.981C>G	NP_944494.1:p.Pro327=
NM_198904.4:c.981C>G MANE Select	NP_944494.1:p.Pro327=