Canonical Allele Identifier: CA362182099
Community Standard Title: NM_198904.4(GABRG2):c.839A>G (p.Tyr280Cys)
Gene: GABRG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.162142233A>G , CM000667.2:g.162142233A>G GRCh38
NC_000005.9:g.161569239A>G , CM000667.1:g.161569239A>G GRCh37
NC_000005.8:g.161501817A>G NCBI36
NG_009290.1:g.79592A>G

Transcript Alleles

HGVS Amino-acid Change
NM_198904.4:c.839A>G MANE Select NP_944494.1:p.Tyr280Cys
ENST00000639213.2:c.839A>G MANE Select ENSP00000491909.2:p.Tyr280Cys
NM_000816.3:c.839A>G NP_000807.2:p.Tyr280Cys
NM_001375339.1:c.830A>G NP_001362268.1:p.Tyr277Cys
NM_001375340.1:c.839A>G NP_001362269.1:p.Tyr280Cys
NM_001375341.1:c.836A>G NP_001362270.1:p.Tyr279Cys
NM_001375342.1:c.836A>G NP_001362271.1:p.Tyr279Cys
NM_001375343.1:c.959A>G NP_001362272.1:p.Tyr320Cys
NM_001375344.1:c.878A>G NP_001362273.1:p.Tyr293Cys
NM_001375345.1:c.773A>G NP_001362274.1:p.Tyr258Cys
NM_001375346.1:c.773A>G NP_001362275.1:p.Tyr258Cys
NM_001375347.1:c.752A>G NP_001362276.1:p.Tyr251Cys
NM_001375348.1:c.419A>G NP_001362277.1:p.Tyr140Cys
NM_001375349.1:c.554A>G NP_001362278.1:p.Tyr185Cys
NM_001375350.1:c.419A>G NP_001362279.1:p.Tyr140Cys
NM_198903.2:c.959A>G NP_944493.2:p.Tyr320Cys
NM_198904.2:c.839A>G NP_944494.1:p.Tyr280Cys
NM_198904.3:c.839A>G NP_944494.1:p.Tyr280Cys
ENST00000356592.7:c.839A>G ENSP00000349000.3:p.Tyr280Cys
ENST00000356592.8:c.840A>G
ENST00000361925.8:c.839A>G ENSP00000354651.4:p.Tyr280Cys
ENST00000361925.9:c.959A>G ENSP00000354651.5:p.Tyr320Cys
ENST00000414552.6:c.959A>G ENSP00000410732.2:p.Tyr320Cys
ENST00000522053.1:c.554A>G ENSP00000430182.1:p.Tyr185Cys
ENST00000522053.2:n.730A>G
ENST00000522990.5:c.*441A>G ENSP00000430732.1:n.*441A>G
ENST00000523372.1:c.960A>G ENSP00000430124.1:n.960A>G
ENST00000523372.2:c.922A>G
ENST00000638253.1:n.93A>G
ENST00000638552.1:c.554A>G ENSP00000491763.1:p.Tyr185Cys
ENST00000638660.1:c.554A>G ENSP00000492869.1:p.Tyr185Cys
ENST00000638772.1:c.839A>G ENSP00000491557.1:p.Tyr280Cys
ENST00000638782.1:n.901A>G
ENST00000638877.1:c.716A>G
ENST00000639046.1:c.230A>G ENSP00000492659.1:p.Tyr77Cys
ENST00000639111.2:c.839A>G ENSP00000492125.2:p.Tyr280Cys
ENST00000639278.1:c.767A>G ENSP00000491958.1:p.Tyr256Cys
ENST00000639384.1:c.839A>G ENSP00000491240.1:p.Tyr280Cys
ENST00000639424.1:c.*39A>G ENSP00000491245.1:n.*39A>G
ENST00000639683.1:c.773A>G ENSP00000492581.1:p.Tyr258Cys
ENST00000639975.1:c.773A>G ENSP00000492096.1:p.Tyr258Cys
ENST00000640500.1:n.137A>G
ENST00000640574.1:c.554A>G ENSP00000491582.1:p.Tyr185Cys
ENST00000640739.1:n.3370A>G
ENST00000640910.1:c.277A>G
ENST00000640985.1:c.752A>G ENSP00000492293.1:p.Tyr251Cys
ENST00000641017.1:c.839A>G ENSP00000493461.1:p.Tyr280Cys