Canonical Allele Identifier: CA362183950

Gene: GABRG2

Linked Data

• MyVariant Identifiers: chr5:g.161580301A>T (hg19) ; chr5:g.162153295A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153295A>T , CM000667.2:g.162153295A>T	GRCh38
NC_000005.9:g.161580301A>T , CM000667.1:g.161580301A>T	GRCh37
NC_000005.8:g.161512879A>T	NCBI36
NG_009290.1:g.90654A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1356A>T
ENST00000361925.9:c.1451A>T	ENSP00000354651.5:p.Tyr484Phe
ENST00000523372.2:c.1414A>T
ENST00000638253.1:n.609A>T
ENST00000638552.1:c.1046A>T	ENSP00000491763.1:p.Tyr349Phe
ENST00000638660.1:c.1070A>T	ENSP00000492869.1:p.Tyr357Phe
ENST00000638772.1:c.*3952A>T	ENSP00000491557.1:n.*3952A>T
ENST00000638877.1:c.1232A>T
ENST00000639046.1:c.722A>T	ENSP00000492659.1:p.Tyr241Phe
ENST00000639111.2:c.1331A>T	ENSP00000492125.2:p.Tyr444Phe
ENST00000639213.2:c.1355A>T MANE Select	ENSP00000491909.2:p.Tyr452Phe
ENST00000639278.1:c.2018A>T	ENSP00000491958.1:n.2018A>T
ENST00000639384.1:c.*1536A>T	ENSP00000491240.1:n.*1536A>T
ENST00000639424.1:c.*555A>T	ENSP00000491245.1:n.*555A>T
ENST00000639683.1:c.1289A>T	ENSP00000492581.1:p.Tyr430Phe
ENST00000639975.1:c.1265A>T	ENSP00000492096.1:p.Tyr422Phe
ENST00000640500.1:n.629A>T
ENST00000640739.1:n.6302A>T
ENST00000640910.1:c.793A>T
ENST00000640985.1:c.1268A>T	ENSP00000492293.1:p.Tyr423Phe
ENST00000641017.1:c.1424A>T	ENSP00000493461.1:p.Tyr475Phe
ENST00000356592.7:c.1355A>T	ENSP00000349000.3:p.Tyr452Phe
ENST00000361925.8:c.1331A>T	ENSP00000354651.4:p.Tyr444Phe
ENST00000414552.6:c.1475A>T	ENSP00000410732.2:p.Tyr492Phe
ENST00000522990.5:c.*933A>T	ENSP00000430732.1:n.*933A>T
ENST00000523372.1:c.1452A>T	ENSP00000430124.1:n.1452A>T
NM_000816.3:c.1331A>T	NP_000807.2:p.Tyr444Phe
NM_198903.2:c.1475A>T	NP_944493.2:p.Tyr492Phe
NM_198904.2:c.1355A>T	NP_944494.1:p.Tyr452Phe
NM_001375339.1:c.1346A>T	NP_001362268.1:p.Tyr449Phe
NM_001375340.1:c.*189A>T	NP_001362269.1:n.*189A>T
NM_001375341.1:c.1352A>T	NP_001362270.1:p.Tyr451Phe
NM_001375342.1:c.1328A>T	NP_001362271.1:p.Tyr443Phe
NM_001375343.1:c.1451A>T	NP_001362272.1:p.Tyr484Phe
NM_001375344.1:c.1394A>T	NP_001362273.1:p.Tyr465Phe
NM_001375345.1:c.1265A>T	NP_001362274.1:p.Tyr422Phe
NM_001375346.1:c.1289A>T	NP_001362275.1:p.Tyr430Phe
NM_001375347.1:c.1268A>T	NP_001362276.1:p.Tyr423Phe
NM_001375348.1:c.911A>T	NP_001362277.1:p.Tyr304Phe
NM_001375349.1:c.1046A>T	NP_001362278.1:p.Tyr349Phe
NM_001375350.1:c.935A>T	NP_001362279.1:p.Tyr312Phe
NM_198904.3:c.1355A>T	NP_944494.1:p.Tyr452Phe
NM_198904.4:c.1355A>T MANE Select	NP_944494.1:p.Tyr452Phe