Canonical Allele Identifier: CA447610244
Gene: GABRG2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.161576142C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.162149136C>T , CM000667.2:g.162149136C>T GRCh38
NC_000005.9:g.161576142C>T , CM000667.1:g.161576142C>T GRCh37
NC_000005.8:g.161508720C>T NCBI36
NG_009290.1:g.86495C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356592.8:c.952C>T
ENST00000361925.9:c.1071C>T ENSP00000354651.5:p.Thr357=
ENST00000522053.2:n.842C>T
ENST00000523372.2:c.1034C>T
ENST00000638253.1:n.205C>T
ENST00000638552.1:c.666C>T ENSP00000491763.1:p.Thr222=
ENST00000638660.1:c.666C>T ENSP00000492869.1:p.Thr222=
ENST00000638772.1:c.951C>T ENSP00000491557.1:p.Thr317=
ENST00000638877.1:c.828C>T
ENST00000639046.1:c.342C>T ENSP00000492659.1:p.Thr114=
ENST00000639111.2:c.951C>T ENSP00000492125.2:p.Thr317=
ENST00000639213.2:c.951C>T MANE Select ENSP00000491909.2:p.Thr317=
ENST00000639278.1:c.879C>T ENSP00000491958.1:p.Thr293=
ENST00000639384.1:c.951C>T ENSP00000491240.1:p.Thr317=
ENST00000639424.1:c.*151C>T ENSP00000491245.1:n.*151C>T
ENST00000639683.1:c.885C>T ENSP00000492581.1:p.Thr295=
ENST00000639975.1:c.885C>T ENSP00000492096.1:p.Thr295=
ENST00000640500.1:n.249C>T
ENST00000640574.1:c.666C>T ENSP00000491582.1:p.Thr222=
ENST00000640739.1:n.3482C>T
ENST00000640910.1:c.389C>T
ENST00000640985.1:c.864C>T ENSP00000492293.1:p.Thr288=
ENST00000641017.1:c.951C>T ENSP00000493461.1:p.Thr317=
ENST00000356592.7:c.951C>T ENSP00000349000.3:p.Thr317=
ENST00000361925.8:c.951C>T ENSP00000354651.4:p.Thr317=
ENST00000414552.6:c.1071C>T ENSP00000410732.2:p.Thr357=
ENST00000522053.1:c.666C>T ENSP00000430182.1:p.Thr222=
ENST00000522990.5:c.*553C>T ENSP00000430732.1:n.*553C>T
ENST00000523372.1:c.1072C>T ENSP00000430124.1:n.1072C>T
NM_000816.3:c.951C>T NP_000807.2:p.Thr317=
NM_198903.2:c.1071C>T NP_944493.2:p.Thr357=
NM_198904.2:c.951C>T NP_944494.1:p.Thr317=
NM_001375339.1:c.942C>T NP_001362268.1:p.Thr314=
NM_001375340.1:c.923-2594C>T NP_001362269.1:n.923-2594C>T
NM_001375341.1:c.948C>T NP_001362270.1:p.Thr316=
NM_001375342.1:c.948C>T NP_001362271.1:p.Thr316=
NM_001375343.1:c.1071C>T NP_001362272.1:p.Thr357=
NM_001375344.1:c.990C>T NP_001362273.1:p.Thr330=
NM_001375345.1:c.885C>T NP_001362274.1:p.Thr295=
NM_001375346.1:c.885C>T NP_001362275.1:p.Thr295=
NM_001375347.1:c.864C>T NP_001362276.1:p.Thr288=
NM_001375348.1:c.531C>T NP_001362277.1:p.Thr177=
NM_001375349.1:c.666C>T NP_001362278.1:p.Thr222=
NM_001375350.1:c.531C>T NP_001362279.1:p.Thr177=
NM_198904.3:c.951C>T NP_944494.1:p.Thr317=
NM_198904.4:c.951C>T MANE Select NP_944494.1:p.Thr317=