Canonical Allele Identifier: CA362184960
Gene: GABRG2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.162103889A>T , CM000667.2:g.162103889A>T GRCh38
NC_000005.9:g.161530895A>T , CM000667.1:g.161530895A>T GRCh37
NC_000005.8:g.161463473A>T NCBI36
NG_009290.1:g.41248A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000356592.8:c.594A>T
ENST00000361925.9:c.752A>T ENSP00000354651.5:p.Asp251Val
ENST00000522053.2:n.523A>T
ENST00000523372.2:c.715A>T
ENST00000638552.1:c.347A>T ENSP00000491763.1:p.Tyr116Phe
ENST00000638660.1:c.347A>T ENSP00000492869.1:p.Tyr116Phe
ENST00000638772.1:c.632A>T ENSP00000491557.1:p.Tyr211Phe
ENST00000638782.1:n.694A>T
ENST00000638877.1:c.509A>T
ENST00000639046.1:c.23A>T ENSP00000492659.1:p.Asp8Val
ENST00000639111.2:c.632A>T ENSP00000492125.2:p.Tyr211Phe
ENST00000639213.2:c.632A>T MANE Select ENSP00000491909.2:p.Tyr211Phe
ENST00000639278.1:c.560A>T ENSP00000491958.1:p.Tyr187Phe
ENST00000639384.1:c.632A>T ENSP00000491240.1:p.Tyr211Phe
ENST00000639424.1:c.107+35783A>T ENSP00000491245.1:n.107+35783A>T
ENST00000639683.1:c.566A>T ENSP00000492581.1:p.Tyr189Phe
ENST00000639975.1:c.566A>T ENSP00000492096.1:p.Tyr189Phe
ENST00000640574.1:c.347A>T ENSP00000491582.1:p.Tyr116Phe
ENST00000640739.1:n.3163A>T
ENST00000640910.1:c.70A>T
ENST00000640985.1:c.545A>T ENSP00000492293.1:p.Tyr182Phe
ENST00000641017.1:c.632A>T ENSP00000493461.1:p.Tyr211Phe
ENST00000356592.7:c.632A>T ENSP00000349000.3:p.Tyr211Phe
ENST00000361925.8:c.632A>T ENSP00000354651.4:p.Tyr211Phe
ENST00000414552.6:c.752A>T ENSP00000410732.2:p.Asp251Val
ENST00000522053.1:c.347A>T ENSP00000430182.1:p.Tyr116Phe
ENST00000522990.5:c.*234A>T ENSP00000430732.1:n.*234A>T
ENST00000523372.1:c.753A>T ENSP00000430124.1:n.753A>T
NM_000816.3:c.632A>T NP_000807.2:p.Tyr211Phe
NM_198903.2:c.752A>T NP_944493.2:p.Asp251Val
NM_198904.2:c.632A>T NP_944494.1:p.Tyr211Phe
NM_001375339.1:c.623A>T NP_001362268.1:p.Tyr208Phe
NM_001375340.1:c.632A>T NP_001362269.1:p.Tyr211Phe
NM_001375341.1:c.632A>T NP_001362270.1:p.Tyr211Phe
NM_001375342.1:c.632A>T NP_001362271.1:p.Tyr211Phe
NM_001375343.1:c.752A>T NP_001362272.1:p.Asp251Val
NM_001375344.1:c.632A>T NP_001362273.1:p.Tyr211Phe
NM_001375345.1:c.566A>T NP_001362274.1:p.Tyr189Phe
NM_001375346.1:c.566A>T NP_001362275.1:p.Tyr189Phe
NM_001375347.1:c.545A>T NP_001362276.1:p.Tyr182Phe
NM_001375348.1:c.212A>T NP_001362277.1:p.Tyr71Phe
NM_001375349.1:c.347A>T NP_001362278.1:p.Tyr116Phe
NM_001375350.1:c.212A>T NP_001362279.1:p.Tyr71Phe
NM_198904.3:c.632A>T NP_944494.1:p.Tyr211Phe
NM_198904.4:c.632A>T MANE Select NP_944494.1:p.Tyr211Phe