Canonical Allele Identifier: CA447610295
Gene: GABRG2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.161576223C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.162149217C>T , CM000667.2:g.162149217C>T GRCh38
NC_000005.9:g.161576223C>T , CM000667.1:g.161576223C>T GRCh37
NC_000005.8:g.161508801C>T NCBI36
NG_009290.1:g.86576C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000356592.8:c.1033C>T
ENST00000361925.9:c.1152C>T ENSP00000354651.5:p.Ile384=
ENST00000523372.2:c.1115C>T
ENST00000638253.1:n.286C>T
ENST00000638552.1:c.747C>T ENSP00000491763.1:p.Ile249=
ENST00000638660.1:c.747C>T ENSP00000492869.1:p.Ile249=
ENST00000638772.1:c.1032C>T ENSP00000491557.1:p.Ile344=
ENST00000638877.1:c.909C>T
ENST00000639046.1:c.423C>T ENSP00000492659.1:p.Ile141=
ENST00000639111.2:c.1032C>T ENSP00000492125.2:p.Ile344=
ENST00000639213.2:c.1032C>T MANE Select ENSP00000491909.2:p.Ile344=
ENST00000639278.1:c.960C>T ENSP00000491958.1:p.Ile320=
ENST00000639384.1:c.1032C>T ENSP00000491240.1:p.Ile344=
ENST00000639424.1:c.*232C>T ENSP00000491245.1:n.*232C>T
ENST00000639683.1:c.966C>T ENSP00000492581.1:p.Ile322=
ENST00000639975.1:c.966C>T ENSP00000492096.1:p.Ile322=
ENST00000640500.1:n.330C>T
ENST00000640574.1:c.747C>T ENSP00000491582.1:p.Ile249=
ENST00000640739.1:n.3563C>T
ENST00000640910.1:c.470C>T
ENST00000640985.1:c.945C>T ENSP00000492293.1:p.Ile315=
ENST00000641017.1:c.1032C>T ENSP00000493461.1:p.Ile344=
ENST00000356592.7:c.1032C>T ENSP00000349000.3:p.Ile344=
ENST00000361925.8:c.1032C>T ENSP00000354651.4:p.Ile344=
ENST00000414552.6:c.1152C>T ENSP00000410732.2:p.Ile384=
ENST00000522990.5:c.*634C>T ENSP00000430732.1:n.*634C>T
ENST00000523372.1:c.1153C>T ENSP00000430124.1:n.1153C>T
NM_000816.3:c.1032C>T NP_000807.2:p.Ile344=
NM_198903.2:c.1152C>T NP_944493.2:p.Ile384=
NM_198904.2:c.1032C>T NP_944494.1:p.Ile344=
NM_001375339.1:c.1023C>T NP_001362268.1:p.Ile341=
NM_001375340.1:c.923-2513C>T NP_001362269.1:n.923-2513C>T
NM_001375341.1:c.1029C>T NP_001362270.1:p.Ile343=
NM_001375342.1:c.1029C>T NP_001362271.1:p.Ile343=
NM_001375343.1:c.1152C>T NP_001362272.1:p.Ile384=
NM_001375344.1:c.1071C>T NP_001362273.1:p.Ile357=
NM_001375345.1:c.966C>T NP_001362274.1:p.Ile322=
NM_001375346.1:c.966C>T NP_001362275.1:p.Ile322=
NM_001375347.1:c.945C>T NP_001362276.1:p.Ile315=
NM_001375348.1:c.612C>T NP_001362277.1:p.Ile204=
NM_001375349.1:c.747C>T NP_001362278.1:p.Ile249=
NM_001375350.1:c.612C>T NP_001362279.1:p.Ile204=
NM_198904.3:c.1032C>T NP_944494.1:p.Ile344=
NM_198904.4:c.1032C>T MANE Select NP_944494.1:p.Ile344=