Canonical Allele Identifier: CA362185169

Gene: GABRG2

Linked Data

• COSMIC: COSM4949478
• MyVariant Identifiers: chr5:g.161530987T>C (hg19) ; chr5:g.162103981T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162103981T>C , CM000667.2:g.162103981T>C	GRCh38
NC_000005.9:g.161530987T>C , CM000667.1:g.161530987T>C	GRCh37
NC_000005.8:g.161463565T>C	NCBI36
NG_009290.1:g.41340T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.686T>C
ENST00000361925.9:c.844T>C	ENSP00000354651.5:p.Phe282Leu
ENST00000522053.2:n.615T>C
ENST00000523372.2:c.807T>C
ENST00000638552.1:c.439T>C	ENSP00000491763.1:p.Phe147Leu
ENST00000638660.1:c.439T>C	ENSP00000492869.1:p.Phe147Leu
ENST00000638772.1:c.724T>C	ENSP00000491557.1:p.Phe242Leu
ENST00000638782.1:n.786T>C
ENST00000638877.1:c.601T>C
ENST00000639046.1:c.115T>C	ENSP00000492659.1:p.Phe39Leu
ENST00000639111.2:c.724T>C	ENSP00000492125.2:p.Phe242Leu
ENST00000639213.2:c.724T>C MANE Select	ENSP00000491909.2:p.Phe242Leu
ENST00000639278.1:c.652T>C	ENSP00000491958.1:p.Phe218Leu
ENST00000639384.1:c.724T>C	ENSP00000491240.1:p.Phe242Leu
ENST00000639424.1:c.107+35875T>C	ENSP00000491245.1:n.107+35875T>C
ENST00000639683.1:c.658T>C	ENSP00000492581.1:p.Phe220Leu
ENST00000639975.1:c.658T>C	ENSP00000492096.1:p.Phe220Leu
ENST00000640574.1:c.439T>C	ENSP00000491582.1:p.Phe147Leu
ENST00000640739.1:n.3255T>C
ENST00000640910.1:c.162T>C
ENST00000640985.1:c.637T>C	ENSP00000492293.1:p.Phe213Leu
ENST00000641017.1:c.724T>C	ENSP00000493461.1:p.Phe242Leu
ENST00000356592.7:c.724T>C	ENSP00000349000.3:p.Phe242Leu
ENST00000361925.8:c.724T>C	ENSP00000354651.4:p.Phe242Leu
ENST00000414552.6:c.844T>C	ENSP00000410732.2:p.Phe282Leu
ENST00000522053.1:c.439T>C	ENSP00000430182.1:p.Phe147Leu
ENST00000522990.5:c.*326T>C	ENSP00000430732.1:n.*326T>C
ENST00000523372.1:c.845T>C	ENSP00000430124.1:n.845T>C
NM_000816.3:c.724T>C	NP_000807.2:p.Phe242Leu
NM_198903.2:c.844T>C	NP_944493.2:p.Phe282Leu
NM_198904.2:c.724T>C	NP_944494.1:p.Phe242Leu
NM_001375339.1:c.715T>C	NP_001362268.1:p.Phe239Leu
NM_001375340.1:c.724T>C	NP_001362269.1:p.Phe242Leu
NM_001375341.1:c.724T>C	NP_001362270.1:p.Phe242Leu
NM_001375342.1:c.724T>C	NP_001362271.1:p.Phe242Leu
NM_001375343.1:c.844T>C	NP_001362272.1:p.Phe282Leu
NM_001375344.1:c.724T>C	NP_001362273.1:p.Phe242Leu
NM_001375345.1:c.658T>C	NP_001362274.1:p.Phe220Leu
NM_001375346.1:c.658T>C	NP_001362275.1:p.Phe220Leu
NM_001375347.1:c.637T>C	NP_001362276.1:p.Phe213Leu
NM_001375348.1:c.304T>C	NP_001362277.1:p.Phe102Leu
NM_001375349.1:c.439T>C	NP_001362278.1:p.Phe147Leu
NM_001375350.1:c.304T>C	NP_001362279.1:p.Phe102Leu
NM_198904.3:c.724T>C	NP_944494.1:p.Phe242Leu
NM_198904.4:c.724T>C MANE Select	NP_944494.1:p.Phe242Leu