Canonical Allele Identifier: CA447609992
Gene: GABRG2 HGNC NCBI

Linked Data

dbSNP Id: rs1761621313
MyVariant Identifiers: chr5:g.161530977T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.162103971T>C , CM000667.2:g.162103971T>C GRCh38
NC_000005.9:g.161530977T>C , CM000667.1:g.161530977T>C GRCh37
NC_000005.8:g.161463555T>C NCBI36
NG_009290.1:g.41330T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356592.8:c.676T>C
ENST00000361925.9:c.834T>C ENSP00000354651.5:p.Tyr278=
ENST00000522053.2:n.605T>C
ENST00000523372.2:c.797T>C
ENST00000638552.1:c.429T>C ENSP00000491763.1:p.Tyr143=
ENST00000638660.1:c.429T>C ENSP00000492869.1:p.Tyr143=
ENST00000638772.1:c.714T>C ENSP00000491557.1:p.Tyr238=
ENST00000638782.1:n.776T>C
ENST00000638877.1:c.591T>C
ENST00000639046.1:c.105T>C ENSP00000492659.1:p.Tyr35=
ENST00000639111.2:c.714T>C ENSP00000492125.2:p.Tyr238=
ENST00000639213.2:c.714T>C MANE Select ENSP00000491909.2:p.Tyr238=
ENST00000639278.1:c.642T>C ENSP00000491958.1:p.Tyr214=
ENST00000639384.1:c.714T>C ENSP00000491240.1:p.Tyr238=
ENST00000639424.1:c.107+35865T>C ENSP00000491245.1:n.107+35865T>C
ENST00000639683.1:c.648T>C ENSP00000492581.1:p.Tyr216=
ENST00000639975.1:c.648T>C ENSP00000492096.1:p.Tyr216=
ENST00000640574.1:c.429T>C ENSP00000491582.1:p.Tyr143=
ENST00000640739.1:n.3245T>C
ENST00000640910.1:c.152T>C
ENST00000640985.1:c.627T>C ENSP00000492293.1:p.Tyr209=
ENST00000641017.1:c.714T>C ENSP00000493461.1:p.Tyr238=
ENST00000356592.7:c.714T>C ENSP00000349000.3:p.Tyr238=
ENST00000361925.8:c.714T>C ENSP00000354651.4:p.Tyr238=
ENST00000414552.6:c.834T>C ENSP00000410732.2:p.Tyr278=
ENST00000522053.1:c.429T>C ENSP00000430182.1:p.Tyr143=
ENST00000522990.5:c.*316T>C ENSP00000430732.1:n.*316T>C
ENST00000523372.1:c.835T>C ENSP00000430124.1:n.835T>C
NM_000816.3:c.714T>C NP_000807.2:p.Tyr238=
NM_198903.2:c.834T>C NP_944493.2:p.Tyr278=
NM_198904.2:c.714T>C NP_944494.1:p.Tyr238=
NM_001375339.1:c.705T>C NP_001362268.1:p.Tyr235=
NM_001375340.1:c.714T>C NP_001362269.1:p.Tyr238=
NM_001375341.1:c.714T>C NP_001362270.1:p.Tyr238=
NM_001375342.1:c.714T>C NP_001362271.1:p.Tyr238=
NM_001375343.1:c.834T>C NP_001362272.1:p.Tyr278=
NM_001375344.1:c.714T>C NP_001362273.1:p.Tyr238=
NM_001375345.1:c.648T>C NP_001362274.1:p.Tyr216=
NM_001375346.1:c.648T>C NP_001362275.1:p.Tyr216=
NM_001375347.1:c.627T>C NP_001362276.1:p.Tyr209=
NM_001375348.1:c.294T>C NP_001362277.1:p.Tyr98=
NM_001375349.1:c.429T>C NP_001362278.1:p.Tyr143=
NM_001375350.1:c.294T>C NP_001362279.1:p.Tyr98=
NM_198904.3:c.714T>C NP_944494.1:p.Tyr238=
NM_198904.4:c.714T>C MANE Select NP_944494.1:p.Tyr238=