Canonical Allele Identifier: CA362183995

Gene: GABRG2

Linked Data

• MyVariant Identifiers: chr5:g.161580312T>C (hg19) ; chr5:g.162153306T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153306T>C , CM000667.2:g.162153306T>C	GRCh38
NC_000005.9:g.161580312T>C , CM000667.1:g.161580312T>C	GRCh37
NC_000005.8:g.161512890T>C	NCBI36
NG_009290.1:g.90665T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1367T>C
ENST00000361925.9:c.1462T>C	ENSP00000354651.5:p.Phe488Leu
ENST00000523372.2:c.1425T>C
ENST00000638253.1:n.620T>C
ENST00000638552.1:c.1057T>C	ENSP00000491763.1:p.Phe353Leu
ENST00000638660.1:c.1081T>C	ENSP00000492869.1:p.Phe361Leu
ENST00000638772.1:c.*3963T>C	ENSP00000491557.1:n.*3963T>C
ENST00000638877.1:c.1243T>C
ENST00000639046.1:c.733T>C	ENSP00000492659.1:p.Phe245Leu
ENST00000639111.2:c.1342T>C	ENSP00000492125.2:p.Phe448Leu
ENST00000639213.2:c.1366T>C MANE Select	ENSP00000491909.2:p.Phe456Leu
ENST00000639278.1:c.2029T>C	ENSP00000491958.1:n.2029T>C
ENST00000639384.1:c.*1547T>C	ENSP00000491240.1:n.*1547T>C
ENST00000639424.1:c.*566T>C	ENSP00000491245.1:n.*566T>C
ENST00000639683.1:c.1300T>C	ENSP00000492581.1:p.Phe434Leu
ENST00000639975.1:c.1276T>C	ENSP00000492096.1:p.Phe426Leu
ENST00000640500.1:n.640T>C
ENST00000640739.1:n.6313T>C
ENST00000640910.1:c.804T>C
ENST00000640985.1:c.1279T>C	ENSP00000492293.1:p.Phe427Leu
ENST00000641017.1:c.1435T>C	ENSP00000493461.1:p.Phe479Leu
ENST00000356592.7:c.1366T>C	ENSP00000349000.3:p.Phe456Leu
ENST00000361925.8:c.1342T>C	ENSP00000354651.4:p.Phe448Leu
ENST00000414552.6:c.1486T>C	ENSP00000410732.2:p.Phe496Leu
ENST00000522990.5:c.*944T>C	ENSP00000430732.1:n.*944T>C
ENST00000523372.1:c.1463T>C	ENSP00000430124.1:n.1463T>C
NM_000816.3:c.1342T>C	NP_000807.2:p.Phe448Leu
NM_198903.2:c.1486T>C	NP_944493.2:p.Phe496Leu
NM_198904.2:c.1366T>C	NP_944494.1:p.Phe456Leu
NM_001375339.1:c.1357T>C	NP_001362268.1:p.Phe453Leu
NM_001375340.1:c.*200T>C	NP_001362269.1:n.*200T>C
NM_001375341.1:c.1363T>C	NP_001362270.1:p.Phe455Leu
NM_001375342.1:c.1339T>C	NP_001362271.1:p.Phe447Leu
NM_001375343.1:c.1462T>C	NP_001362272.1:p.Phe488Leu
NM_001375344.1:c.1405T>C	NP_001362273.1:p.Phe469Leu
NM_001375345.1:c.1276T>C	NP_001362274.1:p.Phe426Leu
NM_001375346.1:c.1300T>C	NP_001362275.1:p.Phe434Leu
NM_001375347.1:c.1279T>C	NP_001362276.1:p.Phe427Leu
NM_001375348.1:c.922T>C	NP_001362277.1:p.Phe308Leu
NM_001375349.1:c.1057T>C	NP_001362278.1:p.Phe353Leu
NM_001375350.1:c.946T>C	NP_001362279.1:p.Phe316Leu
NM_198904.3:c.1366T>C	NP_944494.1:p.Phe456Leu
NM_198904.4:c.1366T>C MANE Select	NP_944494.1:p.Phe456Leu