Canonical Allele Identifier: CA2695205690

Gene: GABRG2

Linked Data

• ClinVar Variation Id: 2925386
• ClinVar RCV Id: RCV003781040

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153293del , CM000667.2:g.162153293del	GRCh38
NC_000005.9:g.161580299del , CM000667.1:g.161580299del	GRCh37
NC_000005.8:g.161512877del	NCBI36
NG_009290.1:g.90652del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1354del
ENST00000361925.9:c.1449del	ENSP00000354651.5:p.Tyr484MetfsTer?
ENST00000523372.2:c.1412del
ENST00000638253.1:n.607del
ENST00000638552.1:c.1044del	ENSP00000491763.1:p.Tyr349MetfsTer?
ENST00000638660.1:c.1068del	ENSP00000492869.1:p.Tyr357MetfsTer?
ENST00000638772.1:c.*3950del	ENSP00000491557.1:n.*3950del
ENST00000638877.1:c.1230del
ENST00000639046.1:c.720del	ENSP00000492659.1:p.Tyr241MetfsTer?
ENST00000639111.2:c.1329del	ENSP00000492125.2:p.Tyr444MetfsTer?
ENST00000639213.2:c.1353del MANE Select	ENSP00000491909.2:p.Tyr452MetfsTer?
ENST00000639278.1:c.2016del	ENSP00000491958.1:n.2016del
ENST00000639384.1:c.*1534del	ENSP00000491240.1:n.*1534del
ENST00000639424.1:c.*553del	ENSP00000491245.1:n.*553del
ENST00000639683.1:c.1287del	ENSP00000492581.1:p.Tyr430MetfsTer?
ENST00000639975.1:c.1263del	ENSP00000492096.1:p.Tyr422MetfsTer?
ENST00000640500.1:n.627del
ENST00000640739.1:n.6300del
ENST00000640910.1:c.791del
ENST00000640985.1:c.1266del	ENSP00000492293.1:p.Tyr423MetfsTer?
ENST00000641017.1:c.1422del	ENSP00000493461.1:p.Tyr475MetfsTer?
ENST00000356592.7:c.1353del	ENSP00000349000.3:p.Tyr452MetfsTer?
ENST00000361925.8:c.1329del	ENSP00000354651.4:p.Tyr444MetfsTer?
ENST00000414552.6:c.1473del	ENSP00000410732.2:p.Tyr492MetfsTer?
ENST00000522990.5:c.*931del	ENSP00000430732.1:n.*931del
ENST00000523372.1:c.1450del	ENSP00000430124.1:n.1450del
NM_000816.3:c.1329del	NP_000807.2:p.Tyr444MetfsTer?
NM_198903.2:c.1473del	NP_944493.2:p.Tyr492MetfsTer?
NM_198904.2:c.1353del	NP_944494.1:p.Tyr452MetfsTer?
NM_001375339.1:c.1344del	NP_001362268.1:p.Tyr449MetfsTer?
NM_001375340.1:c.*187del	NP_001362269.1:n.*187del
NM_001375341.1:c.1350del	NP_001362270.1:p.Tyr451MetfsTer?
NM_001375342.1:c.1326del	NP_001362271.1:p.Tyr443MetfsTer?
NM_001375343.1:c.1449del	NP_001362272.1:p.Tyr484MetfsTer?
NM_001375344.1:c.1392del	NP_001362273.1:p.Tyr465MetfsTer?
NM_001375345.1:c.1263del	NP_001362274.1:p.Tyr422MetfsTer?
NM_001375346.1:c.1287del	NP_001362275.1:p.Tyr430MetfsTer?
NM_001375347.1:c.1266del	NP_001362276.1:p.Tyr423MetfsTer?
NM_001375348.1:c.909del	NP_001362277.1:p.Tyr304MetfsTer?
NM_001375349.1:c.1044del	NP_001362278.1:p.Tyr349MetfsTer?
NM_001375350.1:c.933del	NP_001362279.1:p.Tyr312MetfsTer?
NM_198904.3:c.1353del	NP_944494.1:p.Tyr452MetfsTer?
NM_198904.4:c.1353del MANE Select	NP_944494.1:p.Tyr452MetfsTer?