Canonical Allele Identifier: CA2731830525

Gene: TSC2

Linked Data

• dbSNP Id: rs2151191542

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2064398_2064402del , CM000678.2:g.2064398_2064402del	GRCh38
NC_000016.9:g.2114399_2114403del , CM000678.1:g.2114399_2114403del	GRCh37
NC_000016.8:g.2054400_2054404del	NCBI36
NG_005895.1:g.20093_20097del , LRG_487:g.20093_20097del

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*117_*121del	ENSP00000455997.2:n.*117_*121del
ENST00000642206.2:c.1615_1619del	ENSP00000495146.2:p.Phe539GlnfsTer?
ENST00000642365.2:c.1570_1574del	ENSP00000495459.2:p.Phe524GlnfsTer?
ENST00000644417.2:c.*1007_*1011del	ENSP00000493912.2:n.*1007_*1011del
ENST00000646464.2:c.*1175_*1179del	ENSP00000496610.2:n.*1175_*1179del
ENST00000219476.9:c.1570_1574del MANE Select	ENSP00000219476.3:p.Phe524GlnfsTer?
ENST00000350773.9:c.1570_1574del	ENSP00000344383.4:p.Phe524GlnfsTer?
ENST00000401874.7:c.1570_1574del	ENSP00000384468.2:p.Phe524GlnfsTer?
ENST00000463601.2:n.1698_1702del
ENST00000568454.6:c.1603_1607del	ENSP00000454487.1:p.Phe535GlnfsTer?
ENST00000642365.1:c.227_231del
ENST00000642561.1:c.1570_1574del	ENSP00000495099.1:p.Phe524GlnfsTer?
ENST00000642797.1:c.1570_1574del	ENSP00000493846.1:p.Phe524GlnfsTer?
ENST00000642812.1:n.1615_1619del
ENST00000642936.1:c.1570_1574del	ENSP00000494514.1:p.Phe524GlnfsTer?
ENST00000643088.1:c.1570_1574del	ENSP00000494747.1:p.Phe524GlnfsTer?
ENST00000643149.1:n.3580_3584del
ENST00000643298.1:c.*1072_*1076del	ENSP00000494393.1:n.*1072_*1076del
ENST00000643745.1:c.*502_*506del	ENSP00000495948.1:n.*502_*506del
ENST00000643946.1:c.1570_1574del	ENSP00000495927.1:p.Phe524GlnfsTer?
ENST00000644043.1:c.1570_1574del	ENSP00000496262.1:p.Phe524GlnfsTer?
ENST00000644135.1:c.1570_1574del	ENSP00000495644.1:p.Phe524GlnfsTer?
ENST00000644222.1:n.1657_1661del
ENST00000644329.1:c.1570_1574del	ENSP00000496611.1:p.Phe524GlnfsTer?
ENST00000644335.1:c.1570_1574del	ENSP00000496317.1:p.Phe524GlnfsTer?
ENST00000644399.1:c.1563_1567del
ENST00000644665.1:n.2744_2748del
ENST00000644847.1:n.562_566del
ENST00000645591.1:n.2628_2632del
ENST00000646388.1:c.1570_1574del	ENSP00000495921.1:p.Phe524GlnfsTer?
ENST00000646634.1:n.583_587del
ENST00000647234.1:n.3328_3332del
ENST00000647242.1:n.2206_2210del
ENST00000219476.7:c.1570_1574del	ENSP00000219476.3:p.Phe524GlnfsTer?
ENST00000350773.8:c.1570_1574del	ENSP00000344383.4:p.Phe524GlnfsTer?
ENST00000382538.10:c.1423_1427del	ENSP00000371978.6:p.Phe475GlnfsTer?
ENST00000401874.6:c.1570_1574del	ENSP00000384468.2:p.Phe524GlnfsTer?
ENST00000439117.6:c.*869_*873del	ENSP00000406980.2:n.*869_*873del
ENST00000439673.6:c.1459_1463del	ENSP00000399232.2:p.Phe487GlnfsTer?
ENST00000490108.1:n.343_347del
ENST00000568238.1:n.328_332del
ENST00000568454.5:c.1603_1607del	ENSP00000454487.1:p.Phe535GlnfsTer?
ENST00000568566.5:c.210_214del	ENSP00000455997.1:n.210_214del
NM_000548.3:c.1570_1574del , LRG_487t1:c.1570_1574del	NP_000539.2:p.Phe524GlnfsTer?
NM_001077183.1:c.1570_1574del	NP_001070651.1:p.Phe524GlnfsTer?
NM_001114382.1:c.1570_1574del	NP_001107854.1:p.Phe524GlnfsTer?
XM_005255529.3:c.1570_1574del	XP_005255586.2:p.Phe524GlnfsTer?
XM_005255531.3:c.1570_1574del	XP_005255588.2:p.Phe524GlnfsTer?
XM_011522636.1:c.1570_1574del	XP_011520938.1:p.Phe524GlnfsTer?
XM_011522637.1:c.1570_1574del	XP_011520939.1:p.Phe524GlnfsTer?
XM_011522638.1:c.1459_1463del	XP_011520940.1:p.Phe487GlnfsTer?
XM_011522639.1:c.1570_1574del	XP_011520941.1:p.Phe524GlnfsTer?
XM_011522640.1:c.1570_1574del	XP_011520942.1:p.Phe524GlnfsTer?
XM_011522641.1:c.1459_1463del	XP_011520943.1:p.Phe487GlnfsTer?
NM_000548.4:c.1570_1574del	NP_000539.2:p.Phe524GlnfsTer?
NM_001077183.2:c.1570_1574del	NP_001070651.1:p.Phe524GlnfsTer?
NM_001114382.2:c.1570_1574del	NP_001107854.1:p.Phe524GlnfsTer?
NM_001318827.1:c.1459_1463del	NP_001305756.1:p.Phe487GlnfsTer?
NM_001318829.1:c.1423_1427del	NP_001305758.1:p.Phe475GlnfsTer?
NM_001318831.1:c.970_974del	NP_001305760.1:p.Phe324GlnfsTer?
NM_001318832.1:c.1603_1607del	NP_001305761.1:p.Phe535GlnfsTer?
NM_001363528.1:c.1570_1574del	NP_001350457.1:p.Phe524GlnfsTer?
NM_021055.2:c.1570_1574del	NP_066399.2:p.Phe524GlnfsTer?
XM_005255531.4:c.1570_1574del	XP_005255588.2:p.Phe524GlnfsTer?
XM_011522636.2:c.1570_1574del	XP_011520938.1:p.Phe524GlnfsTer?
XM_011522637.2:c.1570_1574del	XP_011520939.1:p.Phe524GlnfsTer?
XM_011522638.2:c.1732_1736del	XP_011520940.2:p.Phe578GlnfsTer?
XM_011522639.2:c.1570_1574del	XP_011520941.1:p.Phe524GlnfsTer?
XM_011522640.2:c.1570_1574del	XP_011520942.1:p.Phe524GlnfsTer?
XM_017023615.1:c.1570_1574del	XP_016879104.1:p.Phe524GlnfsTer?
XM_017023616.1:c.1570_1574del	XP_016879105.1:p.Phe524GlnfsTer?
XM_017023617.1:c.1732_1736del	XP_016879106.1:p.Phe578GlnfsTer?
XM_017023618.1:c.226_230del	XP_016879107.1:p.Phe76GlnfsTer?
XM_024450413.1:c.1570_1574del	XP_024306181.1:p.Phe524GlnfsTer?
NM_000548.5:c.1570_1574del MANE Select	NP_000539.2:p.Phe524GlnfsTer?
NM_001370404.1:c.1570_1574del	NP_001357333.1:p.Phe524GlnfsTer?
NM_001370405.1:c.1570_1574del	NP_001357334.1:p.Phe524GlnfsTer?
NM_001077183.3:c.1570_1574del	NP_001070651.1:p.Phe524GlnfsTer?
NM_001114382.3:c.1570_1574del	NP_001107854.1:p.Phe524GlnfsTer?
NM_001318827.2:c.1459_1463del	NP_001305756.1:p.Phe487GlnfsTer?
NM_001318829.2:c.1423_1427del	NP_001305758.1:p.Phe475GlnfsTer?
NM_001318831.2:c.970_974del	NP_001305760.1:p.Phe324GlnfsTer?
NM_001318832.2:c.1603_1607del	NP_001305761.1:p.Phe535GlnfsTer?
NM_001363528.2:c.1570_1574del	NP_001350457.1:p.Phe524GlnfsTer?
NM_021055.3:c.1570_1574del	NP_066399.2:p.Phe524GlnfsTer?