Canonical Allele Identifier: CA362185177

Gene: GABRG2

Linked Data

• ClinVar Variation Id: 1044986
• ClinVar RCV Id: RCV001349320
• dbSNP Id: rs1287665753
• MyVariant Identifiers: chr5:g.161530990G>T (hg19) ; chr5:g.162103984G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162103984G>T , CM000667.2:g.162103984G>T	GRCh38
NC_000005.9:g.161530990G>T , CM000667.1:g.161530990G>T	GRCh37
NC_000005.8:g.161463568G>T	NCBI36
NG_009290.1:g.41343G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.689G>T
ENST00000361925.9:c.847G>T	ENSP00000354651.5:p.Val283Phe
ENST00000522053.2:n.618G>T
ENST00000523372.2:c.810G>T
ENST00000638552.1:c.442G>T	ENSP00000491763.1:p.Val148Phe
ENST00000638660.1:c.442G>T	ENSP00000492869.1:p.Val148Phe
ENST00000638772.1:c.727G>T	ENSP00000491557.1:p.Val243Phe
ENST00000638782.1:n.789G>T
ENST00000638877.1:c.604G>T
ENST00000639046.1:c.118G>T	ENSP00000492659.1:p.Val40Phe
ENST00000639111.2:c.727G>T	ENSP00000492125.2:p.Val243Phe
ENST00000639213.2:c.727G>T MANE Select	ENSP00000491909.2:p.Val243Phe
ENST00000639278.1:c.655G>T	ENSP00000491958.1:p.Val219Phe
ENST00000639384.1:c.727G>T	ENSP00000491240.1:p.Val243Phe
ENST00000639424.1:c.107+35878G>T	ENSP00000491245.1:n.107+35878G>T
ENST00000639683.1:c.661G>T	ENSP00000492581.1:p.Val221Phe
ENST00000639975.1:c.661G>T	ENSP00000492096.1:p.Val221Phe
ENST00000640574.1:c.442G>T	ENSP00000491582.1:p.Val148Phe
ENST00000640739.1:n.3258G>T
ENST00000640910.1:c.165G>T
ENST00000640985.1:c.640G>T	ENSP00000492293.1:p.Val214Phe
ENST00000641017.1:c.727G>T	ENSP00000493461.1:p.Val243Phe
ENST00000356592.7:c.727G>T	ENSP00000349000.3:p.Val243Phe
ENST00000361925.8:c.727G>T	ENSP00000354651.4:p.Val243Phe
ENST00000414552.6:c.847G>T	ENSP00000410732.2:p.Val283Phe
ENST00000522053.1:c.442G>T	ENSP00000430182.1:p.Val148Phe
ENST00000522990.5:c.*329G>T	ENSP00000430732.1:n.*329G>T
ENST00000523372.1:c.848G>T	ENSP00000430124.1:n.848G>T
NM_000816.3:c.727G>T	NP_000807.2:p.Val243Phe
NM_198903.2:c.847G>T	NP_944493.2:p.Val283Phe
NM_198904.2:c.727G>T	NP_944494.1:p.Val243Phe
NM_001375339.1:c.718G>T	NP_001362268.1:p.Val240Phe
NM_001375340.1:c.727G>T	NP_001362269.1:p.Val243Phe
NM_001375341.1:c.727G>T	NP_001362270.1:p.Val243Phe
NM_001375342.1:c.727G>T	NP_001362271.1:p.Val243Phe
NM_001375343.1:c.847G>T	NP_001362272.1:p.Val283Phe
NM_001375344.1:c.727G>T	NP_001362273.1:p.Val243Phe
NM_001375345.1:c.661G>T	NP_001362274.1:p.Val221Phe
NM_001375346.1:c.661G>T	NP_001362275.1:p.Val221Phe
NM_001375347.1:c.640G>T	NP_001362276.1:p.Val214Phe
NM_001375348.1:c.307G>T	NP_001362277.1:p.Val103Phe
NM_001375349.1:c.442G>T	NP_001362278.1:p.Val148Phe
NM_001375350.1:c.307G>T	NP_001362279.1:p.Val103Phe
NM_198904.3:c.727G>T	NP_944494.1:p.Val243Phe
NM_198904.4:c.727G>T MANE Select	NP_944494.1:p.Val243Phe