Canonical Allele Identifier: CA10623929
Gene: GABRG2 HGNC NCBI

Linked Data

ClinVar Variation Id: 352649
ClinVar RCV Id: RCV000302008
dbSNP Id: rs886060384

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.162153618A>C , CM000667.2:g.162153618A>C GRCh38
NC_000005.9:g.161580624A>C , CM000667.1:g.161580624A>C GRCh37
NC_000005.8:g.161513202A>C NCBI36
NG_009290.1:g.90977A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000356592.8:c.1679A>C
ENST00000361925.9:c.*250A>C ENSP00000354651.5:n.*250A>C
ENST00000523372.2:c.1737A>C
ENST00000638253.1:n.932A>C
ENST00000638552.1:c.*250A>C ENSP00000491763.1:n.*250A>C
ENST00000638660.1:c.*250A>C ENSP00000492869.1:n.*250A>C
ENST00000638772.1:c.*4275A>C ENSP00000491557.1:n.*4275A>C
ENST00000638877.1:c.1555A>C
ENST00000639046.1:c.*250A>C ENSP00000492659.1:n.*250A>C
ENST00000639111.2:c.*250A>C ENSP00000492125.2:n.*250A>C
ENST00000639213.2:c.*250A>C MANE Select ENSP00000491909.2:n.*250A>C
ENST00000639278.1:c.2341A>C ENSP00000491958.1:n.2341A>C
ENST00000639384.1:c.*1859A>C ENSP00000491240.1:n.*1859A>C
ENST00000639424.1:c.*878A>C ENSP00000491245.1:n.*878A>C
ENST00000639683.1:c.*250A>C ENSP00000492581.1:n.*250A>C
ENST00000639975.1:c.*250A>C ENSP00000492096.1:n.*250A>C
ENST00000640500.1:n.952A>C
ENST00000640739.1:n.6625A>C
ENST00000640985.1:c.*250A>C ENSP00000492293.1:n.*250A>C
ENST00000641017.1:c.1747A>C ENSP00000493461.1:n.1747A>C
ENST00000356592.7:c.*250A>C ENSP00000349000.3:n.*250A>C
ENST00000414552.6:c.*250A>C ENSP00000410732.2:n.*250A>C
ENST00000522990.5:c.*1256A>C ENSP00000430732.1:n.*1256A>C
ENST00000523372.1:c.1775A>C ENSP00000430124.1:n.1775A>C
NM_000816.3:c.*250A>C NP_000807.2:n.*250A>C
NM_198903.2:c.*250A>C NP_944493.2:n.*250A>C
NM_198904.2:c.*250A>C NP_944494.1:n.*250A>C
NM_001375339.1:c.*250A>C NP_001362268.1:n.*250A>C
NM_001375340.1:c.*512A>C NP_001362269.1:n.*512A>C
NM_001375341.1:c.*250A>C NP_001362270.1:n.*250A>C
NM_001375342.1:c.*250A>C NP_001362271.1:n.*250A>C
NM_001375343.1:c.*250A>C NP_001362272.1:n.*250A>C
NM_001375344.1:c.*250A>C NP_001362273.1:n.*250A>C
NM_001375345.1:c.*250A>C NP_001362274.1:n.*250A>C
NM_001375346.1:c.*250A>C NP_001362275.1:n.*250A>C
NM_001375347.1:c.*250A>C NP_001362276.1:n.*250A>C
NM_001375348.1:c.*250A>C NP_001362277.1:n.*250A>C
NM_001375349.1:c.*250A>C NP_001362278.1:n.*250A>C
NM_001375350.1:c.*250A>C NP_001362279.1:n.*250A>C
NM_198904.3:c.*250A>C NP_944494.1:n.*250A>C
NM_198904.4:c.*250A>C MANE Select NP_944494.1:n.*250A>C