Canonical Allele Identifier: CA362183827

Gene: GABRG2

Linked Data

• MyVariant Identifiers: chr5:g.161580273C>T (hg19) ; chr5:g.162153267C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153267C>T , CM000667.2:g.162153267C>T	GRCh38
NC_000005.9:g.161580273C>T , CM000667.1:g.161580273C>T	GRCh37
NC_000005.8:g.161512851C>T	NCBI36
NG_009290.1:g.90626C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1328C>T
ENST00000361925.9:c.1423C>T	ENSP00000354651.5:p.His475Tyr
ENST00000523372.2:c.1386C>T
ENST00000638253.1:n.581C>T
ENST00000638552.1:c.1018C>T	ENSP00000491763.1:p.His340Tyr
ENST00000638660.1:c.1042C>T	ENSP00000492869.1:p.His348Tyr
ENST00000638772.1:c.*3924C>T	ENSP00000491557.1:n.*3924C>T
ENST00000638877.1:c.1204C>T
ENST00000639046.1:c.694C>T	ENSP00000492659.1:p.His232Tyr
ENST00000639111.2:c.1303C>T	ENSP00000492125.2:p.His435Tyr
ENST00000639213.2:c.1327C>T MANE Select	ENSP00000491909.2:p.His443Tyr
ENST00000639278.1:c.1990C>T	ENSP00000491958.1:n.1990C>T
ENST00000639384.1:c.*1508C>T	ENSP00000491240.1:n.*1508C>T
ENST00000639424.1:c.*527C>T	ENSP00000491245.1:n.*527C>T
ENST00000639683.1:c.1261C>T	ENSP00000492581.1:p.His421Tyr
ENST00000639975.1:c.1237C>T	ENSP00000492096.1:p.His413Tyr
ENST00000640500.1:n.601C>T
ENST00000640739.1:n.6274C>T
ENST00000640910.1:c.765C>T
ENST00000640985.1:c.1240C>T	ENSP00000492293.1:p.His414Tyr
ENST00000641017.1:c.1396C>T	ENSP00000493461.1:p.His466Tyr
ENST00000356592.7:c.1327C>T	ENSP00000349000.3:p.His443Tyr
ENST00000361925.8:c.1303C>T	ENSP00000354651.4:p.His435Tyr
ENST00000414552.6:c.1447C>T	ENSP00000410732.2:p.His483Tyr
ENST00000522990.5:c.*905C>T	ENSP00000430732.1:n.*905C>T
ENST00000523372.1:c.1424C>T	ENSP00000430124.1:n.1424C>T
NM_000816.3:c.1303C>T	NP_000807.2:p.His435Tyr
NM_198903.2:c.1447C>T	NP_944493.2:p.His483Tyr
NM_198904.2:c.1327C>T	NP_944494.1:p.His443Tyr
NM_001375339.1:c.1318C>T	NP_001362268.1:p.His440Tyr
NM_001375340.1:c.*161C>T	NP_001362269.1:n.*161C>T
NM_001375341.1:c.1324C>T	NP_001362270.1:p.His442Tyr
NM_001375342.1:c.1300C>T	NP_001362271.1:p.His434Tyr
NM_001375343.1:c.1423C>T	NP_001362272.1:p.His475Tyr
NM_001375344.1:c.1366C>T	NP_001362273.1:p.His456Tyr
NM_001375345.1:c.1237C>T	NP_001362274.1:p.His413Tyr
NM_001375346.1:c.1261C>T	NP_001362275.1:p.His421Tyr
NM_001375347.1:c.1240C>T	NP_001362276.1:p.His414Tyr
NM_001375348.1:c.883C>T	NP_001362277.1:p.His295Tyr
NM_001375349.1:c.1018C>T	NP_001362278.1:p.His340Tyr
NM_001375350.1:c.907C>T	NP_001362279.1:p.His303Tyr
NM_198904.3:c.1327C>T	NP_944494.1:p.His443Tyr
NM_198904.4:c.1327C>T MANE Select	NP_944494.1:p.His443Tyr