Canonical Allele Identifier: CA362183818

Gene: GABRG2

Linked Data

• MyVariant Identifiers: chr5:g.161580271T>C (hg19) ; chr5:g.162153265T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153265T>C , CM000667.2:g.162153265T>C	GRCh38
NC_000005.9:g.161580271T>C , CM000667.1:g.161580271T>C	GRCh37
NC_000005.8:g.161512849T>C	NCBI36
NG_009290.1:g.90624T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1326T>C
ENST00000361925.9:c.1421T>C	ENSP00000354651.5:p.Ile474Thr
ENST00000523372.2:c.1384T>C
ENST00000638253.1:n.579T>C
ENST00000638552.1:c.1016T>C	ENSP00000491763.1:p.Ile339Thr
ENST00000638660.1:c.1040T>C	ENSP00000492869.1:p.Ile347Thr
ENST00000638772.1:c.*3922T>C	ENSP00000491557.1:n.*3922T>C
ENST00000638877.1:c.1202T>C
ENST00000639046.1:c.692T>C	ENSP00000492659.1:p.Ile231Thr
ENST00000639111.2:c.1301T>C	ENSP00000492125.2:p.Ile434Thr
ENST00000639213.2:c.1325T>C MANE Select	ENSP00000491909.2:p.Ile442Thr
ENST00000639278.1:c.1988T>C	ENSP00000491958.1:n.1988T>C
ENST00000639384.1:c.*1506T>C	ENSP00000491240.1:n.*1506T>C
ENST00000639424.1:c.*525T>C	ENSP00000491245.1:n.*525T>C
ENST00000639683.1:c.1259T>C	ENSP00000492581.1:p.Ile420Thr
ENST00000639975.1:c.1235T>C	ENSP00000492096.1:p.Ile412Thr
ENST00000640500.1:n.599T>C
ENST00000640739.1:n.6272T>C
ENST00000640910.1:c.763T>C
ENST00000640985.1:c.1238T>C	ENSP00000492293.1:p.Ile413Thr
ENST00000641017.1:c.1394T>C	ENSP00000493461.1:p.Ile465Thr
ENST00000356592.7:c.1325T>C	ENSP00000349000.3:p.Ile442Thr
ENST00000361925.8:c.1301T>C	ENSP00000354651.4:p.Ile434Thr
ENST00000414552.6:c.1445T>C	ENSP00000410732.2:p.Ile482Thr
ENST00000522990.5:c.*903T>C	ENSP00000430732.1:n.*903T>C
ENST00000523372.1:c.1422T>C	ENSP00000430124.1:n.1422T>C
NM_000816.3:c.1301T>C	NP_000807.2:p.Ile434Thr
NM_198903.2:c.1445T>C	NP_944493.2:p.Ile482Thr
NM_198904.2:c.1325T>C	NP_944494.1:p.Ile442Thr
NM_001375339.1:c.1316T>C	NP_001362268.1:p.Ile439Thr
NM_001375340.1:c.*159T>C	NP_001362269.1:n.*159T>C
NM_001375341.1:c.1322T>C	NP_001362270.1:p.Ile441Thr
NM_001375342.1:c.1298T>C	NP_001362271.1:p.Ile433Thr
NM_001375343.1:c.1421T>C	NP_001362272.1:p.Ile474Thr
NM_001375344.1:c.1364T>C	NP_001362273.1:p.Ile455Thr
NM_001375345.1:c.1235T>C	NP_001362274.1:p.Ile412Thr
NM_001375346.1:c.1259T>C	NP_001362275.1:p.Ile420Thr
NM_001375347.1:c.1238T>C	NP_001362276.1:p.Ile413Thr
NM_001375348.1:c.881T>C	NP_001362277.1:p.Ile294Thr
NM_001375349.1:c.1016T>C	NP_001362278.1:p.Ile339Thr
NM_001375350.1:c.905T>C	NP_001362279.1:p.Ile302Thr
NM_198904.3:c.1325T>C	NP_944494.1:p.Ile442Thr
NM_198904.4:c.1325T>C MANE Select	NP_944494.1:p.Ile442Thr