Canonical Allele Identifier: CA362183986

Gene: GABRG2

Linked Data

• MyVariant Identifiers: chr5:g.161580310T>C (hg19) ; chr5:g.162153304T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153304T>C , CM000667.2:g.162153304T>C	GRCh38
NC_000005.9:g.161580310T>C , CM000667.1:g.161580310T>C	GRCh37
NC_000005.8:g.161512888T>C	NCBI36
NG_009290.1:g.90663T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1365T>C
ENST00000361925.9:c.1460T>C	ENSP00000354651.5:p.Ile487Thr
ENST00000523372.2:c.1423T>C
ENST00000638253.1:n.618T>C
ENST00000638552.1:c.1055T>C	ENSP00000491763.1:p.Ile352Thr
ENST00000638660.1:c.1079T>C	ENSP00000492869.1:p.Ile360Thr
ENST00000638772.1:c.*3961T>C	ENSP00000491557.1:n.*3961T>C
ENST00000638877.1:c.1241T>C
ENST00000639046.1:c.731T>C	ENSP00000492659.1:p.Ile244Thr
ENST00000639111.2:c.1340T>C	ENSP00000492125.2:p.Ile447Thr
ENST00000639213.2:c.1364T>C MANE Select	ENSP00000491909.2:p.Ile455Thr
ENST00000639278.1:c.2027T>C	ENSP00000491958.1:n.2027T>C
ENST00000639384.1:c.*1545T>C	ENSP00000491240.1:n.*1545T>C
ENST00000639424.1:c.*564T>C	ENSP00000491245.1:n.*564T>C
ENST00000639683.1:c.1298T>C	ENSP00000492581.1:p.Ile433Thr
ENST00000639975.1:c.1274T>C	ENSP00000492096.1:p.Ile425Thr
ENST00000640500.1:n.638T>C
ENST00000640739.1:n.6311T>C
ENST00000640910.1:c.802T>C
ENST00000640985.1:c.1277T>C	ENSP00000492293.1:p.Ile426Thr
ENST00000641017.1:c.1433T>C	ENSP00000493461.1:p.Ile478Thr
ENST00000356592.7:c.1364T>C	ENSP00000349000.3:p.Ile455Thr
ENST00000361925.8:c.1340T>C	ENSP00000354651.4:p.Ile447Thr
ENST00000414552.6:c.1484T>C	ENSP00000410732.2:p.Ile495Thr
ENST00000522990.5:c.*942T>C	ENSP00000430732.1:n.*942T>C
ENST00000523372.1:c.1461T>C	ENSP00000430124.1:n.1461T>C
NM_000816.3:c.1340T>C	NP_000807.2:p.Ile447Thr
NM_198903.2:c.1484T>C	NP_944493.2:p.Ile495Thr
NM_198904.2:c.1364T>C	NP_944494.1:p.Ile455Thr
NM_001375339.1:c.1355T>C	NP_001362268.1:p.Ile452Thr
NM_001375340.1:c.*198T>C	NP_001362269.1:n.*198T>C
NM_001375341.1:c.1361T>C	NP_001362270.1:p.Ile454Thr
NM_001375342.1:c.1337T>C	NP_001362271.1:p.Ile446Thr
NM_001375343.1:c.1460T>C	NP_001362272.1:p.Ile487Thr
NM_001375344.1:c.1403T>C	NP_001362273.1:p.Ile468Thr
NM_001375345.1:c.1274T>C	NP_001362274.1:p.Ile425Thr
NM_001375346.1:c.1298T>C	NP_001362275.1:p.Ile433Thr
NM_001375347.1:c.1277T>C	NP_001362276.1:p.Ile426Thr
NM_001375348.1:c.920T>C	NP_001362277.1:p.Ile307Thr
NM_001375349.1:c.1055T>C	NP_001362278.1:p.Ile352Thr
NM_001375350.1:c.944T>C	NP_001362279.1:p.Ile315Thr
NM_198904.3:c.1364T>C	NP_944494.1:p.Ile455Thr
NM_198904.4:c.1364T>C MANE Select	NP_944494.1:p.Ile455Thr