Canonical Allele Identifier: CA362183875
Community Standard Title: NM_198904.4(GABRG2):c.373C>T (p.Arg125Cys)
Gene: GABRG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.162097683C>T , CM000667.2:g.162097683C>T GRCh38
NC_000005.9:g.161524689C>T , CM000667.1:g.161524689C>T GRCh37
NC_000005.8:g.161457267C>T NCBI36
NG_009290.1:g.35042C>T

Transcript Alleles

HGVS Amino-acid Change
NM_198904.4:c.373C>T MANE Select NP_944494.1:p.Arg125Cys
ENST00000639213.2:c.373C>T MANE Select ENSP00000491909.2:p.Arg125Cys
NM_000816.3:c.373C>T NP_000807.2:p.Arg125Cys
NM_001375339.1:c.364C>T NP_001362268.1:p.Arg122Cys
NM_001375340.1:c.373C>T NP_001362269.1:p.Arg125Cys
NM_001375341.1:c.373C>T NP_001362270.1:p.Arg125Cys
NM_001375342.1:c.373C>T NP_001362271.1:p.Arg125Cys
NM_001375343.1:c.373C>T NP_001362272.1:p.Arg125Cys
NM_001375344.1:c.373C>T NP_001362273.1:p.Arg125Cys
NM_001375345.1:c.307C>T NP_001362274.1:p.Arg103Cys
NM_001375346.1:c.307C>T NP_001362275.1:p.Arg103Cys
NM_001375347.1:c.286C>T NP_001362276.1:p.Arg96Cys
NM_001375348.1:c.-31-17C>T NP_001362277.1:n.-31-17C>T
NM_001375349.1:c.88C>T NP_001362278.1:p.Arg30Cys
NM_001375350.1:c.-31-17C>T NP_001362279.1:n.-31-17C>T
NM_198903.2:c.373C>T NP_944493.2:p.Arg125Cys
NM_198904.2:c.373C>T NP_944494.1:p.Arg125Cys
NM_198904.3:c.373C>T NP_944494.1:p.Arg125Cys
ENST00000356592.7:c.373C>T ENSP00000349000.3:p.Arg125Cys
ENST00000356592.8:c.335C>T
ENST00000361925.8:c.373C>T ENSP00000354651.4:p.Arg125Cys
ENST00000361925.9:c.373C>T ENSP00000354651.5:p.Arg125Cys
ENST00000414552.6:c.373C>T ENSP00000410732.2:p.Arg125Cys
ENST00000522053.1:c.88C>T ENSP00000430182.1:p.Arg30Cys
ENST00000522053.2:n.264C>T
ENST00000522990.5:c.328-17C>T ENSP00000430732.1:n.328-17C>T
ENST00000523372.1:c.494C>T ENSP00000430124.1:n.494C>T
ENST00000523372.2:c.456C>T
ENST00000638552.1:c.88C>T ENSP00000491763.1:p.Arg30Cys
ENST00000638660.1:c.88C>T ENSP00000492869.1:p.Arg30Cys
ENST00000638772.1:c.373C>T ENSP00000491557.1:p.Arg125Cys
ENST00000638782.1:n.435C>T
ENST00000638877.1:c.267-17C>T
ENST00000639046.1:c.23-6206C>T ENSP00000492659.1:n.23-6206C>T
ENST00000639111.2:c.373C>T ENSP00000492125.2:p.Arg125Cys
ENST00000639278.1:c.301C>T ENSP00000491958.1:p.Arg101Cys
ENST00000639384.1:c.373C>T ENSP00000491240.1:p.Arg125Cys
ENST00000639424.1:c.107+29577C>T ENSP00000491245.1:n.107+29577C>T
ENST00000639554.1:n.333C>T
ENST00000639683.1:c.307C>T ENSP00000492581.1:p.Arg103Cys
ENST00000639975.1:c.307C>T ENSP00000492096.1:p.Arg103Cys
ENST00000640574.1:c.88C>T ENSP00000491582.1:p.Arg30Cys
ENST00000640739.1:n.333C>T
ENST00000640910.1:c.70-6206C>T
ENST00000640985.1:c.286C>T ENSP00000492293.1:p.Arg96Cys
ENST00000641017.1:c.373C>T ENSP00000493461.1:p.Arg125Cys