Canonical Allele Identifier: CA362183949

Gene: GABRG2

Linked Data

• dbSNP Id: rs1765506135
• gnomAD v4: 5-162153295-A-G
• COSMIC: COSM74722
• MyVariant Identifiers: chr5:g.161580301A>G (hg19) ; chr5:g.162153295A>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1356A>G
ENST00000361925.9:c.1451A>G	ENSP00000354651.5:p.Tyr484Cys
ENST00000523372.2:c.1414A>G
ENST00000638253.1:n.609A>G
ENST00000638552.1:c.1046A>G	ENSP00000491763.1:p.Tyr349Cys
ENST00000638660.1:c.1070A>G	ENSP00000492869.1:p.Tyr357Cys
ENST00000638772.1:c.*3952A>G	ENSP00000491557.1:n.*3952A>G
ENST00000638877.1:c.1232A>G
ENST00000639046.1:c.722A>G	ENSP00000492659.1:p.Tyr241Cys
ENST00000639111.2:c.1331A>G	ENSP00000492125.2:p.Tyr444Cys
ENST00000639213.2:c.1355A>G MANE Select	ENSP00000491909.2:p.Tyr452Cys
ENST00000639278.1:c.2018A>G	ENSP00000491958.1:n.2018A>G
ENST00000639384.1:c.*1536A>G	ENSP00000491240.1:n.*1536A>G
ENST00000639424.1:c.*555A>G	ENSP00000491245.1:n.*555A>G
ENST00000639683.1:c.1289A>G	ENSP00000492581.1:p.Tyr430Cys
ENST00000639975.1:c.1265A>G	ENSP00000492096.1:p.Tyr422Cys
ENST00000640500.1:n.629A>G
ENST00000640739.1:n.6302A>G
ENST00000640910.1:c.793A>G
ENST00000640985.1:c.1268A>G	ENSP00000492293.1:p.Tyr423Cys
ENST00000641017.1:c.1424A>G	ENSP00000493461.1:p.Tyr475Cys
ENST00000356592.7:c.1355A>G	ENSP00000349000.3:p.Tyr452Cys
ENST00000361925.8:c.1331A>G	ENSP00000354651.4:p.Tyr444Cys
ENST00000414552.6:c.1475A>G	ENSP00000410732.2:p.Tyr492Cys
ENST00000522990.5:c.*933A>G	ENSP00000430732.1:n.*933A>G
ENST00000523372.1:c.1452A>G	ENSP00000430124.1:n.1452A>G
NM_000816.3:c.1331A>G	NP_000807.2:p.Tyr444Cys
NM_198903.2:c.1475A>G	NP_944493.2:p.Tyr492Cys
NM_198904.2:c.1355A>G	NP_944494.1:p.Tyr452Cys
NM_001375339.1:c.1346A>G	NP_001362268.1:p.Tyr449Cys
NM_001375340.1:c.*189A>G	NP_001362269.1:n.*189A>G
NM_001375341.1:c.1352A>G	NP_001362270.1:p.Tyr451Cys
NM_001375342.1:c.1328A>G	NP_001362271.1:p.Tyr443Cys
NM_001375343.1:c.1451A>G	NP_001362272.1:p.Tyr484Cys
NM_001375344.1:c.1394A>G	NP_001362273.1:p.Tyr465Cys
NM_001375345.1:c.1265A>G	NP_001362274.1:p.Tyr422Cys
NM_001375346.1:c.1289A>G	NP_001362275.1:p.Tyr430Cys
NM_001375347.1:c.1268A>G	NP_001362276.1:p.Tyr423Cys
NM_001375348.1:c.911A>G	NP_001362277.1:p.Tyr304Cys
NM_001375349.1:c.1046A>G	NP_001362278.1:p.Tyr349Cys
NM_001375350.1:c.935A>G	NP_001362279.1:p.Tyr312Cys
NM_198904.3:c.1355A>G	NP_944494.1:p.Tyr452Cys
NM_198904.4:c.1355A>G MANE Select	NP_944494.1:p.Tyr452Cys