Canonical Allele Identifier: CA362183942

Gene: GABRG2

Linked Data

• MyVariant Identifiers: chr5:g.161580300T>C (hg19) ; chr5:g.162153294T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153294T>C , CM000667.2:g.162153294T>C	GRCh38
NC_000005.9:g.161580300T>C , CM000667.1:g.161580300T>C	GRCh37
NC_000005.8:g.161512878T>C	NCBI36
NG_009290.1:g.90653T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1355T>C
ENST00000361925.9:c.1450T>C	ENSP00000354651.5:p.Tyr484His
ENST00000523372.2:c.1413T>C
ENST00000638253.1:n.608T>C
ENST00000638552.1:c.1045T>C	ENSP00000491763.1:p.Tyr349His
ENST00000638660.1:c.1069T>C	ENSP00000492869.1:p.Tyr357His
ENST00000638772.1:c.*3951T>C	ENSP00000491557.1:n.*3951T>C
ENST00000638877.1:c.1231T>C
ENST00000639046.1:c.721T>C	ENSP00000492659.1:p.Tyr241His
ENST00000639111.2:c.1330T>C	ENSP00000492125.2:p.Tyr444His
ENST00000639213.2:c.1354T>C MANE Select	ENSP00000491909.2:p.Tyr452His
ENST00000639278.1:c.2017T>C	ENSP00000491958.1:n.2017T>C
ENST00000639384.1:c.*1535T>C	ENSP00000491240.1:n.*1535T>C
ENST00000639424.1:c.*554T>C	ENSP00000491245.1:n.*554T>C
ENST00000639683.1:c.1288T>C	ENSP00000492581.1:p.Tyr430His
ENST00000639975.1:c.1264T>C	ENSP00000492096.1:p.Tyr422His
ENST00000640500.1:n.628T>C
ENST00000640739.1:n.6301T>C
ENST00000640910.1:c.792T>C
ENST00000640985.1:c.1267T>C	ENSP00000492293.1:p.Tyr423His
ENST00000641017.1:c.1423T>C	ENSP00000493461.1:p.Tyr475His
ENST00000356592.7:c.1354T>C	ENSP00000349000.3:p.Tyr452His
ENST00000361925.8:c.1330T>C	ENSP00000354651.4:p.Tyr444His
ENST00000414552.6:c.1474T>C	ENSP00000410732.2:p.Tyr492His
ENST00000522990.5:c.*932T>C	ENSP00000430732.1:n.*932T>C
ENST00000523372.1:c.1451T>C	ENSP00000430124.1:n.1451T>C
NM_000816.3:c.1330T>C	NP_000807.2:p.Tyr444His
NM_198903.2:c.1474T>C	NP_944493.2:p.Tyr492His
NM_198904.2:c.1354T>C	NP_944494.1:p.Tyr452His
NM_001375339.1:c.1345T>C	NP_001362268.1:p.Tyr449His
NM_001375340.1:c.*188T>C	NP_001362269.1:n.*188T>C
NM_001375341.1:c.1351T>C	NP_001362270.1:p.Tyr451His
NM_001375342.1:c.1327T>C	NP_001362271.1:p.Tyr443His
NM_001375343.1:c.1450T>C	NP_001362272.1:p.Tyr484His
NM_001375344.1:c.1393T>C	NP_001362273.1:p.Tyr465His
NM_001375345.1:c.1264T>C	NP_001362274.1:p.Tyr422His
NM_001375346.1:c.1288T>C	NP_001362275.1:p.Tyr430His
NM_001375347.1:c.1267T>C	NP_001362276.1:p.Tyr423His
NM_001375348.1:c.910T>C	NP_001362277.1:p.Tyr304His
NM_001375349.1:c.1045T>C	NP_001362278.1:p.Tyr349His
NM_001375350.1:c.934T>C	NP_001362279.1:p.Tyr312His
NM_198904.3:c.1354T>C	NP_944494.1:p.Tyr452His
NM_198904.4:c.1354T>C MANE Select	NP_944494.1:p.Tyr452His