Canonical Allele Identifier: CA362182395

Gene: GABRG2

Linked Data

• MyVariant Identifiers: chr5:g.161576162A>T (hg19) ; chr5:g.162149156A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162149156A>T , CM000667.2:g.162149156A>T	GRCh38
NC_000005.9:g.161576162A>T , CM000667.1:g.161576162A>T	GRCh37
NC_000005.8:g.161508740A>T	NCBI36
NG_009290.1:g.86515A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.972A>T
ENST00000361925.9:c.1091A>T	ENSP00000354651.5:p.Lys364Ile
ENST00000522053.2:n.862A>T
ENST00000523372.2:c.1054A>T
ENST00000638253.1:n.225A>T
ENST00000638552.1:c.686A>T	ENSP00000491763.1:p.Lys229Ile
ENST00000638660.1:c.686A>T	ENSP00000492869.1:p.Lys229Ile
ENST00000638772.1:c.971A>T	ENSP00000491557.1:p.Lys324Ile
ENST00000638877.1:c.848A>T
ENST00000639046.1:c.362A>T	ENSP00000492659.1:p.Lys121Ile
ENST00000639111.2:c.971A>T	ENSP00000492125.2:p.Lys324Ile
ENST00000639213.2:c.971A>T MANE Select	ENSP00000491909.2:p.Lys324Ile
ENST00000639278.1:c.899A>T	ENSP00000491958.1:p.Lys300Ile
ENST00000639384.1:c.971A>T	ENSP00000491240.1:p.Lys324Ile
ENST00000639424.1:c.*171A>T	ENSP00000491245.1:n.*171A>T
ENST00000639683.1:c.905A>T	ENSP00000492581.1:p.Lys302Ile
ENST00000639975.1:c.905A>T	ENSP00000492096.1:p.Lys302Ile
ENST00000640500.1:n.269A>T
ENST00000640574.1:c.686A>T	ENSP00000491582.1:p.Lys229Ile
ENST00000640739.1:n.3502A>T
ENST00000640910.1:c.409A>T
ENST00000640985.1:c.884A>T	ENSP00000492293.1:p.Lys295Ile
ENST00000641017.1:c.971A>T	ENSP00000493461.1:p.Lys324Ile
ENST00000356592.7:c.971A>T	ENSP00000349000.3:p.Lys324Ile
ENST00000361925.8:c.971A>T	ENSP00000354651.4:p.Lys324Ile
ENST00000414552.6:c.1091A>T	ENSP00000410732.2:p.Lys364Ile
ENST00000522990.5:c.*573A>T	ENSP00000430732.1:n.*573A>T
ENST00000523372.1:c.1092A>T	ENSP00000430124.1:n.1092A>T
NM_000816.3:c.971A>T	NP_000807.2:p.Lys324Ile
NM_198903.2:c.1091A>T	NP_944493.2:p.Lys364Ile
NM_198904.2:c.971A>T	NP_944494.1:p.Lys324Ile
NM_001375339.1:c.962A>T	NP_001362268.1:p.Lys321Ile
NM_001375340.1:c.923-2574A>T	NP_001362269.1:n.923-2574A>T
NM_001375341.1:c.968A>T	NP_001362270.1:p.Lys323Ile
NM_001375342.1:c.968A>T	NP_001362271.1:p.Lys323Ile
NM_001375343.1:c.1091A>T	NP_001362272.1:p.Lys364Ile
NM_001375344.1:c.1010A>T	NP_001362273.1:p.Lys337Ile
NM_001375345.1:c.905A>T	NP_001362274.1:p.Lys302Ile
NM_001375346.1:c.905A>T	NP_001362275.1:p.Lys302Ile
NM_001375347.1:c.884A>T	NP_001362276.1:p.Lys295Ile
NM_001375348.1:c.551A>T	NP_001362277.1:p.Lys184Ile
NM_001375349.1:c.686A>T	NP_001362278.1:p.Lys229Ile
NM_001375350.1:c.551A>T	NP_001362279.1:p.Lys184Ile
NM_198904.3:c.971A>T	NP_944494.1:p.Lys324Ile
NM_198904.4:c.971A>T MANE Select	NP_944494.1:p.Lys324Ile