Canonical Allele Identifier: CA362184032

Gene: GABRG2

Linked Data

• MyVariant Identifiers: chr5:g.161580321A>C (hg19) ; chr5:g.162153315A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153315A>C , CM000667.2:g.162153315A>C	GRCh38
NC_000005.9:g.161580321A>C , CM000667.1:g.161580321A>C	GRCh37
NC_000005.8:g.161512899A>C	NCBI36
NG_009290.1:g.90674A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1376A>C
ENST00000361925.9:c.1471A>C	ENSP00000354651.5:p.Thr491Pro
ENST00000523372.2:c.1434A>C
ENST00000638253.1:n.629A>C
ENST00000638552.1:c.1066A>C	ENSP00000491763.1:p.Thr356Pro
ENST00000638660.1:c.1090A>C	ENSP00000492869.1:p.Thr364Pro
ENST00000638772.1:c.*3972A>C	ENSP00000491557.1:n.*3972A>C
ENST00000638877.1:c.1252A>C
ENST00000639046.1:c.742A>C	ENSP00000492659.1:p.Thr248Pro
ENST00000639111.2:c.1351A>C	ENSP00000492125.2:p.Thr451Pro
ENST00000639213.2:c.1375A>C MANE Select	ENSP00000491909.2:p.Thr459Pro
ENST00000639278.1:c.2038A>C	ENSP00000491958.1:n.2038A>C
ENST00000639384.1:c.*1556A>C	ENSP00000491240.1:n.*1556A>C
ENST00000639424.1:c.*575A>C	ENSP00000491245.1:n.*575A>C
ENST00000639683.1:c.1309A>C	ENSP00000492581.1:p.Thr437Pro
ENST00000639975.1:c.1285A>C	ENSP00000492096.1:p.Thr429Pro
ENST00000640500.1:n.649A>C
ENST00000640739.1:n.6322A>C
ENST00000640910.1:c.813A>C
ENST00000640985.1:c.1288A>C	ENSP00000492293.1:p.Thr430Pro
ENST00000641017.1:c.1444A>C	ENSP00000493461.1:p.Thr482Pro
ENST00000356592.7:c.1375A>C	ENSP00000349000.3:p.Thr459Pro
ENST00000361925.8:c.1351A>C	ENSP00000354651.4:p.Thr451Pro
ENST00000414552.6:c.1495A>C	ENSP00000410732.2:p.Thr499Pro
ENST00000522990.5:c.*953A>C	ENSP00000430732.1:n.*953A>C
ENST00000523372.1:c.1472A>C	ENSP00000430124.1:n.1472A>C
NM_000816.3:c.1351A>C	NP_000807.2:p.Thr451Pro
NM_198903.2:c.1495A>C	NP_944493.2:p.Thr499Pro
NM_198904.2:c.1375A>C	NP_944494.1:p.Thr459Pro
NM_001375339.1:c.1366A>C	NP_001362268.1:p.Thr456Pro
NM_001375340.1:c.*209A>C	NP_001362269.1:n.*209A>C
NM_001375341.1:c.1372A>C	NP_001362270.1:p.Thr458Pro
NM_001375342.1:c.1348A>C	NP_001362271.1:p.Thr450Pro
NM_001375343.1:c.1471A>C	NP_001362272.1:p.Thr491Pro
NM_001375344.1:c.1414A>C	NP_001362273.1:p.Thr472Pro
NM_001375345.1:c.1285A>C	NP_001362274.1:p.Thr429Pro
NM_001375346.1:c.1309A>C	NP_001362275.1:p.Thr437Pro
NM_001375347.1:c.1288A>C	NP_001362276.1:p.Thr430Pro
NM_001375348.1:c.931A>C	NP_001362277.1:p.Thr311Pro
NM_001375349.1:c.1066A>C	NP_001362278.1:p.Thr356Pro
NM_001375350.1:c.955A>C	NP_001362279.1:p.Thr319Pro
NM_198904.3:c.1375A>C	NP_944494.1:p.Thr459Pro
NM_198904.4:c.1375A>C MANE Select	NP_944494.1:p.Thr459Pro