Canonical Allele Identifier: CA362183677

Gene: GABRG2

Linked Data

• ClinVar Variation Id: 2428830
• ClinVar RCV Id: RCV003120431
• dbSNP Id: rs1344138083
• MyVariant Identifiers: chr5:g.161580237G>C (hg19) ; chr5:g.162153231G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153231G>C , CM000667.2:g.162153231G>C	GRCh38
NC_000005.9:g.161580237G>C , CM000667.1:g.161580237G>C	GRCh37
NC_000005.8:g.161512815G>C	NCBI36
NG_009290.1:g.90590G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1292G>C
ENST00000361925.9:c.1387G>C	ENSP00000354651.5:p.Asp463His
ENST00000523372.2:c.1350G>C
ENST00000638253.1:n.545G>C
ENST00000638552.1:c.982G>C	ENSP00000491763.1:p.Asp328His
ENST00000638660.1:c.1006G>C	ENSP00000492869.1:p.Asp336His
ENST00000638772.1:c.*3888G>C	ENSP00000491557.1:n.*3888G>C
ENST00000638877.1:c.1168G>C
ENST00000639046.1:c.658G>C	ENSP00000492659.1:p.Asp220His
ENST00000639111.2:c.1267G>C	ENSP00000492125.2:p.Asp423His
ENST00000639213.2:c.1291G>C MANE Select	ENSP00000491909.2:p.Asp431His
ENST00000639278.1:c.1954G>C	ENSP00000491958.1:n.1954G>C
ENST00000639384.1:c.*1472G>C	ENSP00000491240.1:n.*1472G>C
ENST00000639424.1:c.*491G>C	ENSP00000491245.1:n.*491G>C
ENST00000639683.1:c.1225G>C	ENSP00000492581.1:p.Asp409His
ENST00000639975.1:c.1201G>C	ENSP00000492096.1:p.Asp401His
ENST00000640500.1:n.565G>C
ENST00000640739.1:n.6238G>C
ENST00000640910.1:c.729G>C
ENST00000640985.1:c.1204G>C	ENSP00000492293.1:p.Asp402His
ENST00000641017.1:c.1360G>C	ENSP00000493461.1:p.Asp454His
ENST00000356592.7:c.1291G>C	ENSP00000349000.3:p.Asp431His
ENST00000361925.8:c.1267G>C	ENSP00000354651.4:p.Asp423His
ENST00000414552.6:c.1411G>C	ENSP00000410732.2:p.Asp471His
ENST00000522990.5:c.*869G>C	ENSP00000430732.1:n.*869G>C
ENST00000523372.1:c.1388G>C	ENSP00000430124.1:n.1388G>C
NM_000816.3:c.1267G>C	NP_000807.2:p.Asp423His
NM_198903.2:c.1411G>C	NP_944493.2:p.Asp471His
NM_198904.2:c.1291G>C	NP_944494.1:p.Asp431His
NM_001375339.1:c.1282G>C	NP_001362268.1:p.Asp428His
NM_001375340.1:c.*125G>C	NP_001362269.1:n.*125G>C
NM_001375341.1:c.1288G>C	NP_001362270.1:p.Asp430His
NM_001375342.1:c.1264G>C	NP_001362271.1:p.Asp422His
NM_001375343.1:c.1387G>C	NP_001362272.1:p.Asp463His
NM_001375344.1:c.1330G>C	NP_001362273.1:p.Asp444His
NM_001375345.1:c.1201G>C	NP_001362274.1:p.Asp401His
NM_001375346.1:c.1225G>C	NP_001362275.1:p.Asp409His
NM_001375347.1:c.1204G>C	NP_001362276.1:p.Asp402His
NM_001375348.1:c.847G>C	NP_001362277.1:p.Asp283His
NM_001375349.1:c.982G>C	NP_001362278.1:p.Asp328His
NM_001375350.1:c.871G>C	NP_001362279.1:p.Asp291His
NM_198904.3:c.1291G>C	NP_944494.1:p.Asp431His
NM_198904.4:c.1291G>C MANE Select	NP_944494.1:p.Asp431His