Canonical Allele Identifier: CA362182410
Gene: GABRG2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.162149164C>A , CM000667.2:g.162149164C>A GRCh38
NC_000005.9:g.161576170C>A , CM000667.1:g.161576170C>A GRCh37
NC_000005.8:g.161508748C>A NCBI36
NG_009290.1:g.86523C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356592.8:c.980C>A
ENST00000361925.9:c.1099C>A ENSP00000354651.5:p.Pro367Thr
ENST00000522053.2:n.870C>A
ENST00000523372.2:c.1062C>A
ENST00000638253.1:n.233C>A
ENST00000638552.1:c.694C>A ENSP00000491763.1:p.Pro232Thr
ENST00000638660.1:c.694C>A ENSP00000492869.1:p.Pro232Thr
ENST00000638772.1:c.979C>A ENSP00000491557.1:p.Pro327Thr
ENST00000638877.1:c.856C>A
ENST00000639046.1:c.370C>A ENSP00000492659.1:p.Pro124Thr
ENST00000639111.2:c.979C>A ENSP00000492125.2:p.Pro327Thr
ENST00000639213.2:c.979C>A MANE Select ENSP00000491909.2:p.Pro327Thr
ENST00000639278.1:c.907C>A ENSP00000491958.1:p.Pro303Thr
ENST00000639384.1:c.979C>A ENSP00000491240.1:p.Pro327Thr
ENST00000639424.1:c.*179C>A ENSP00000491245.1:n.*179C>A
ENST00000639683.1:c.913C>A ENSP00000492581.1:p.Pro305Thr
ENST00000639975.1:c.913C>A ENSP00000492096.1:p.Pro305Thr
ENST00000640500.1:n.277C>A
ENST00000640574.1:c.694C>A ENSP00000491582.1:p.Pro232Thr
ENST00000640739.1:n.3510C>A
ENST00000640910.1:c.417C>A
ENST00000640985.1:c.892C>A ENSP00000492293.1:p.Pro298Thr
ENST00000641017.1:c.979C>A ENSP00000493461.1:p.Pro327Thr
ENST00000356592.7:c.979C>A ENSP00000349000.3:p.Pro327Thr
ENST00000361925.8:c.979C>A ENSP00000354651.4:p.Pro327Thr
ENST00000414552.6:c.1099C>A ENSP00000410732.2:p.Pro367Thr
ENST00000522990.5:c.*581C>A ENSP00000430732.1:n.*581C>A
ENST00000523372.1:c.1100C>A ENSP00000430124.1:n.1100C>A
NM_000816.3:c.979C>A NP_000807.2:p.Pro327Thr
NM_198903.2:c.1099C>A NP_944493.2:p.Pro367Thr
NM_198904.2:c.979C>A NP_944494.1:p.Pro327Thr
NM_001375339.1:c.970C>A NP_001362268.1:p.Pro324Thr
NM_001375340.1:c.923-2566C>A NP_001362269.1:n.923-2566C>A
NM_001375341.1:c.976C>A NP_001362270.1:p.Pro326Thr
NM_001375342.1:c.976C>A NP_001362271.1:p.Pro326Thr
NM_001375343.1:c.1099C>A NP_001362272.1:p.Pro367Thr
NM_001375344.1:c.1018C>A NP_001362273.1:p.Pro340Thr
NM_001375345.1:c.913C>A NP_001362274.1:p.Pro305Thr
NM_001375346.1:c.913C>A NP_001362275.1:p.Pro305Thr
NM_001375347.1:c.892C>A NP_001362276.1:p.Pro298Thr
NM_001375348.1:c.559C>A NP_001362277.1:p.Pro187Thr
NM_001375349.1:c.694C>A NP_001362278.1:p.Pro232Thr
NM_001375350.1:c.559C>A NP_001362279.1:p.Pro187Thr
NM_198904.3:c.979C>A NP_944494.1:p.Pro327Thr
NM_198904.4:c.979C>A MANE Select NP_944494.1:p.Pro327Thr