Canonical Allele Identifier: CA447610291

Gene: GABRG2

Linked Data

• gnomAD v4: 5-162149211-T-C
• MyVariant Identifiers: chr5:g.161576217T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162149211T>C , CM000667.2:g.162149211T>C	GRCh38
NC_000005.9:g.161576217T>C , CM000667.1:g.161576217T>C	GRCh37
NC_000005.8:g.161508795T>C	NCBI36
NG_009290.1:g.86570T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000356592.8:c.1027T>C
ENST00000361925.9:c.1146T>C	ENSP00000354651.5:p.Cys382=
ENST00000523372.2:c.1109T>C
ENST00000638253.1:n.280T>C
ENST00000638552.1:c.741T>C	ENSP00000491763.1:p.Cys247=
ENST00000638660.1:c.741T>C	ENSP00000492869.1:p.Cys247=
ENST00000638772.1:c.1026T>C	ENSP00000491557.1:p.Cys342=
ENST00000638877.1:c.903T>C
ENST00000639046.1:c.417T>C	ENSP00000492659.1:p.Cys139=
ENST00000639111.2:c.1026T>C	ENSP00000492125.2:p.Cys342=
ENST00000639213.2:c.1026T>C MANE Select	ENSP00000491909.2:p.Cys342=
ENST00000639278.1:c.954T>C	ENSP00000491958.1:p.Cys318=
ENST00000639384.1:c.1026T>C	ENSP00000491240.1:p.Cys342=
ENST00000639424.1:c.*226T>C	ENSP00000491245.1:n.*226T>C
ENST00000639683.1:c.960T>C	ENSP00000492581.1:p.Cys320=
ENST00000639975.1:c.960T>C	ENSP00000492096.1:p.Cys320=
ENST00000640500.1:n.324T>C
ENST00000640574.1:c.741T>C	ENSP00000491582.1:p.Cys247=
ENST00000640739.1:n.3557T>C
ENST00000640910.1:c.464T>C
ENST00000640985.1:c.939T>C	ENSP00000492293.1:p.Cys313=
ENST00000641017.1:c.1026T>C	ENSP00000493461.1:p.Cys342=
ENST00000356592.7:c.1026T>C	ENSP00000349000.3:p.Cys342=
ENST00000361925.8:c.1026T>C	ENSP00000354651.4:p.Cys342=
ENST00000414552.6:c.1146T>C	ENSP00000410732.2:p.Cys382=
ENST00000522990.5:c.*628T>C	ENSP00000430732.1:n.*628T>C
ENST00000523372.1:c.1147T>C	ENSP00000430124.1:n.1147T>C
NM_000816.3:c.1026T>C	NP_000807.2:p.Cys342=
NM_198903.2:c.1146T>C	NP_944493.2:p.Cys382=
NM_198904.2:c.1026T>C	NP_944494.1:p.Cys342=
NM_001375339.1:c.1017T>C	NP_001362268.1:p.Cys339=
NM_001375340.1:c.923-2519T>C	NP_001362269.1:n.923-2519T>C
NM_001375341.1:c.1023T>C	NP_001362270.1:p.Cys341=
NM_001375342.1:c.1023T>C	NP_001362271.1:p.Cys341=
NM_001375343.1:c.1146T>C	NP_001362272.1:p.Cys382=
NM_001375344.1:c.1065T>C	NP_001362273.1:p.Cys355=
NM_001375345.1:c.960T>C	NP_001362274.1:p.Cys320=
NM_001375346.1:c.960T>C	NP_001362275.1:p.Cys320=
NM_001375347.1:c.939T>C	NP_001362276.1:p.Cys313=
NM_001375348.1:c.606T>C	NP_001362277.1:p.Cys202=
NM_001375349.1:c.741T>C	NP_001362278.1:p.Cys247=
NM_001375350.1:c.606T>C	NP_001362279.1:p.Cys202=
NM_198904.3:c.1026T>C	NP_944494.1:p.Cys342=
NM_198904.4:c.1026T>C MANE Select	NP_944494.1:p.Cys342=