Canonical Allele Identifier: CA1596377161
Community Standard Title: NM_198904.4(GABRG2):c.822C= (p.Tyr274=)
Gene: GABRG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.162142216C= , CM000667.2:g.162142216C= GRCh38
NC_000005.9:g.161569222C= , CM000667.1:g.161569222C= GRCh37
NC_000005.8:g.161501800C= NCBI36
NG_009290.1:g.79575C=

Transcript Alleles

HGVS Amino-acid Change
NM_198904.4:c.822C= MANE Select NP_944494.1:p.Tyr274=
ENST00000639213.2:c.822C= MANE Select ENSP00000491909.2:p.Tyr274=
NM_000816.3:c.822C= NP_000807.2:p.Tyr274=
NM_001375339.1:c.813C= NP_001362268.1:p.Tyr271=
NM_001375340.1:c.822C= NP_001362269.1:p.Tyr274=
NM_001375341.1:c.819C= NP_001362270.1:p.Tyr273=
NM_001375342.1:c.819C= NP_001362271.1:p.Tyr273=
NM_001375343.1:c.942C= NP_001362272.1:p.Tyr314=
NM_001375344.1:c.861C= NP_001362273.1:p.Tyr287=
NM_001375345.1:c.756C= NP_001362274.1:p.Tyr252=
NM_001375346.1:c.756C= NP_001362275.1:p.Tyr252=
NM_001375347.1:c.735C= NP_001362276.1:p.Tyr245=
NM_001375348.1:c.402C= NP_001362277.1:p.Tyr134=
NM_001375349.1:c.537C= NP_001362278.1:p.Tyr179=
NM_001375350.1:c.402C= NP_001362279.1:p.Tyr134=
NM_198903.2:c.942C= NP_944493.2:p.Tyr314=
NM_198904.2:c.822C= NP_944494.1:p.Tyr274=
NM_198904.3:c.822C= NP_944494.1:p.Tyr274=
ENST00000356592.7:c.822C= ENSP00000349000.3:p.Tyr274=
ENST00000356592.8:c.823C=
ENST00000361925.8:c.822C= ENSP00000354651.4:p.Tyr274=
ENST00000361925.9:c.942C= ENSP00000354651.5:p.Tyr314=
ENST00000414552.6:c.942C= ENSP00000410732.2:p.Tyr314=
ENST00000522053.1:c.537C= ENSP00000430182.1:p.Tyr179=
ENST00000522053.2:n.713C=
ENST00000522990.5:c.*424C= ENSP00000430732.1:n.*424C=
ENST00000523372.1:c.943C= ENSP00000430124.1:n.943C=
ENST00000523372.2:c.905C=
ENST00000638253.1:n.76C=
ENST00000638552.1:c.537C= ENSP00000491763.1:p.Tyr179=
ENST00000638660.1:c.537C= ENSP00000492869.1:p.Tyr179=
ENST00000638772.1:c.822C= ENSP00000491557.1:p.Tyr274=
ENST00000638782.1:n.884C=
ENST00000638877.1:c.699C=
ENST00000639046.1:c.213C= ENSP00000492659.1:p.Tyr71=
ENST00000639111.2:c.822C= ENSP00000492125.2:p.Tyr274=
ENST00000639278.1:c.750C= ENSP00000491958.1:p.Tyr250=
ENST00000639384.1:c.822C= ENSP00000491240.1:p.Tyr274=
ENST00000639424.1:c.*22C= ENSP00000491245.1:n.*22C=
ENST00000639683.1:c.756C= ENSP00000492581.1:p.Tyr252=
ENST00000639975.1:c.756C= ENSP00000492096.1:p.Tyr252=
ENST00000640500.1:n.120C=
ENST00000640574.1:c.537C= ENSP00000491582.1:p.Tyr179=
ENST00000640739.1:n.3353C=
ENST00000640910.1:c.260C=
ENST00000640985.1:c.735C= ENSP00000492293.1:p.Tyr245=
ENST00000641017.1:c.822C= ENSP00000493461.1:p.Tyr274=