Canonical Allele Identifier: CA362182374

Gene: GABRG2

Linked Data

• dbSNP Id: rs1765175039
• gnomAD v4: 5-162149144-C-T
• MyVariant Identifiers: chr5:g.161576150C>T (hg19) ; chr5:g.162149144C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162149144C>T , CM000667.2:g.162149144C>T	GRCh38
NC_000005.9:g.161576150C>T , CM000667.1:g.161576150C>T	GRCh37
NC_000005.8:g.161508728C>T	NCBI36
NG_009290.1:g.86503C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.960C>T
ENST00000361925.9:c.1079C>T	ENSP00000354651.5:p.Thr360Ile
ENST00000522053.2:n.850C>T
ENST00000523372.2:c.1042C>T
ENST00000638253.1:n.213C>T
ENST00000638552.1:c.674C>T	ENSP00000491763.1:p.Thr225Ile
ENST00000638660.1:c.674C>T	ENSP00000492869.1:p.Thr225Ile
ENST00000638772.1:c.959C>T	ENSP00000491557.1:p.Thr320Ile
ENST00000638877.1:c.836C>T
ENST00000639046.1:c.350C>T	ENSP00000492659.1:p.Thr117Ile
ENST00000639111.2:c.959C>T	ENSP00000492125.2:p.Thr320Ile
ENST00000639213.2:c.959C>T MANE Select	ENSP00000491909.2:p.Thr320Ile
ENST00000639278.1:c.887C>T	ENSP00000491958.1:p.Thr296Ile
ENST00000639384.1:c.959C>T	ENSP00000491240.1:p.Thr320Ile
ENST00000639424.1:c.*159C>T	ENSP00000491245.1:n.*159C>T
ENST00000639683.1:c.893C>T	ENSP00000492581.1:p.Thr298Ile
ENST00000639975.1:c.893C>T	ENSP00000492096.1:p.Thr298Ile
ENST00000640500.1:n.257C>T
ENST00000640574.1:c.674C>T	ENSP00000491582.1:p.Thr225Ile
ENST00000640739.1:n.3490C>T
ENST00000640910.1:c.397C>T
ENST00000640985.1:c.872C>T	ENSP00000492293.1:p.Thr291Ile
ENST00000641017.1:c.959C>T	ENSP00000493461.1:p.Thr320Ile
ENST00000356592.7:c.959C>T	ENSP00000349000.3:p.Thr320Ile
ENST00000361925.8:c.959C>T	ENSP00000354651.4:p.Thr320Ile
ENST00000414552.6:c.1079C>T	ENSP00000410732.2:p.Thr360Ile
ENST00000522990.5:c.*561C>T	ENSP00000430732.1:n.*561C>T
ENST00000523372.1:c.1080C>T	ENSP00000430124.1:n.1080C>T
NM_000816.3:c.959C>T	NP_000807.2:p.Thr320Ile
NM_198903.2:c.1079C>T	NP_944493.2:p.Thr360Ile
NM_198904.2:c.959C>T	NP_944494.1:p.Thr320Ile
NM_001375339.1:c.950C>T	NP_001362268.1:p.Thr317Ile
NM_001375340.1:c.923-2586C>T	NP_001362269.1:n.923-2586C>T
NM_001375341.1:c.956C>T	NP_001362270.1:p.Thr319Ile
NM_001375342.1:c.956C>T	NP_001362271.1:p.Thr319Ile
NM_001375343.1:c.1079C>T	NP_001362272.1:p.Thr360Ile
NM_001375344.1:c.998C>T	NP_001362273.1:p.Thr333Ile
NM_001375345.1:c.893C>T	NP_001362274.1:p.Thr298Ile
NM_001375346.1:c.893C>T	NP_001362275.1:p.Thr298Ile
NM_001375347.1:c.872C>T	NP_001362276.1:p.Thr291Ile
NM_001375348.1:c.539C>T	NP_001362277.1:p.Thr180Ile
NM_001375349.1:c.674C>T	NP_001362278.1:p.Thr225Ile
NM_001375350.1:c.539C>T	NP_001362279.1:p.Thr180Ile
NM_198904.3:c.959C>T	NP_944494.1:p.Thr320Ile
NM_198904.4:c.959C>T MANE Select	NP_944494.1:p.Thr320Ile