Canonical Allele Identifier: CA2580091162

Gene: TSC2

Linked Data

• ClinVar Variation Id: 2117893
• ClinVar RCV Id: RCV003030205

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088262_2088265del , CM000678.2:g.2088262_2088265del	GRCh38
NC_000016.9:g.2138263_2138266del , CM000678.1:g.2138263_2138266del	GRCh37
NC_000016.8:g.2078264_2078267del	NCBI36
NG_005895.1:g.43957_43960del , LRG_487:g.43957_43960del
NG_008617.1:g.54958_54961del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3545_*3548del	ENSP00000455997.2:n.*3545_*3548del
ENST00000642206.2:c.5043_5046del	ENSP00000495146.2:p.Thr1682IlefsTer?
ENST00000642365.2:c.5193_5196del	ENSP00000495459.2:p.Thr1732IlefsTer?
ENST00000644417.2:c.*5709_*5712del	ENSP00000493912.2:n.*5709_*5712del
ENST00000646464.2:c.*7945_*7948del	ENSP00000496610.2:n.*7945_*7948del
ENST00000219476.9:c.5196_5199del MANE Select	ENSP00000219476.3:p.Thr1733IlefsTer?
ENST00000350773.9:c.5127_5130del	ENSP00000344383.4:p.Thr1710IlefsTer?
ENST00000401874.7:c.4995_4998del	ENSP00000384468.2:p.Thr1666IlefsTer?
ENST00000568454.6:c.5028_5031del	ENSP00000454487.1:p.Thr1677IlefsTer?
ENST00000569110.2:c.1419_1422del
ENST00000569930.2:n.3078_3081del
ENST00000642365.1:c.3850_3853del
ENST00000642561.1:c.5055_5058del	ENSP00000495099.1:p.Thr1686IlefsTer?
ENST00000642791.1:n.793_796del
ENST00000642797.1:c.4998_5001del	ENSP00000493846.1:p.Thr1667IlefsTer?
ENST00000642936.1:c.5064_5067del	ENSP00000494514.1:p.Thr1689IlefsTer?
ENST00000643088.1:c.4989_4992del	ENSP00000494747.1:p.Thr1664IlefsTer?
ENST00000643426.1:n.2844_2847del
ENST00000643946.1:c.5121_5124del	ENSP00000495927.1:p.Thr1708IlefsTer?
ENST00000644043.1:c.5067_5070del	ENSP00000496262.1:p.Thr1690IlefsTer?
ENST00000644329.1:c.5082_5085del	ENSP00000496611.1:p.Thr1695IlefsTer?
ENST00000644335.1:c.4992_4995del	ENSP00000496317.1:p.Thr1665IlefsTer?
ENST00000644399.1:c.5117_5120del
ENST00000645024.1:n.3280_3283del
ENST00000646388.1:c.5190_5193del	ENSP00000495921.1:p.Thr1731IlefsTer?
ENST00000646634.1:n.4011_4014del
ENST00000646674.1:n.2448_2451del
ENST00000647042.1:n.2419_2422del
ENST00000647180.1:n.2309_2312del
ENST00000219476.7:c.5196_5199del	ENSP00000219476.3:p.Thr1733IlefsTer?
ENST00000350773.8:c.5127_5130del	ENSP00000344383.4:p.Thr1710IlefsTer?
ENST00000382538.10:c.4851_4854del	ENSP00000371978.6:p.Thr1618IlefsTer?
ENST00000401874.6:c.4995_4998del	ENSP00000384468.2:p.Thr1666IlefsTer?
ENST00000439117.6:c.*4363_*4366del	ENSP00000406980.2:n.*4363_*4366del
ENST00000439673.6:c.4887_4890del	ENSP00000399232.2:p.Thr1630IlefsTer?
ENST00000497886.5:n.2919_2922del
ENST00000568454.5:c.5028_5031del	ENSP00000454487.1:p.Thr1677IlefsTer?
ENST00000569110.1:c.1378_1381del
ENST00000569930.1:n.2311_2314del
NM_000548.3:c.5196_5199del , LRG_487t1:c.5196_5199del	NP_000539.2:p.Thr1733IlefsTer?
NM_001077183.1:c.4995_4998del	NP_001070651.1:p.Thr1666IlefsTer?
NM_001114382.1:c.5127_5130del	NP_001107854.1:p.Thr1710IlefsTer?
XM_005255529.3:c.5067_5070del	XP_005255586.2:p.Thr1690IlefsTer?
XM_005255531.3:c.4998_5001del	XP_005255588.2:p.Thr1667IlefsTer?
XM_011522636.1:c.5250_5253del	XP_011520938.1:p.Thr1751IlefsTer?
XM_011522637.1:c.5247_5250del	XP_011520939.1:p.Thr1750IlefsTer?
XM_011522638.1:c.5139_5142del	XP_011520940.1:p.Thr1714IlefsTer?
XM_011522639.1:c.5121_5124del	XP_011520941.1:p.Thr1708IlefsTer?
XM_011522640.1:c.5118_5121del	XP_011520942.1:p.Thr1707IlefsTer?
XM_011522641.1:c.4887_4890del	XP_011520943.1:p.Thr1630IlefsTer?
NM_000548.4:c.5196_5199del	NP_000539.2:p.Thr1733IlefsTer?
NM_001077183.2:c.4995_4998del	NP_001070651.1:p.Thr1666IlefsTer?
NM_001114382.2:c.5127_5130del	NP_001107854.1:p.Thr1710IlefsTer?
NM_001318827.1:c.4887_4890del	NP_001305756.1:p.Thr1630IlefsTer?
NM_001318829.1:c.4851_4854del	NP_001305758.1:p.Thr1618IlefsTer?
NM_001318831.1:c.4464_4467del	NP_001305760.1:p.Thr1489IlefsTer?
NM_001318832.1:c.5028_5031del	NP_001305761.1:p.Thr1677IlefsTer?
NM_001363528.1:c.4998_5001del	NP_001350457.1:p.Thr1667IlefsTer?
NM_021055.2:c.5067_5070del	NP_066399.2:p.Thr1690IlefsTer?
XM_005255531.4:c.4998_5001del	XP_005255588.2:p.Thr1667IlefsTer?
XM_011522636.2:c.5250_5253del	XP_011520938.1:p.Thr1751IlefsTer?
XM_011522637.2:c.5247_5250del	XP_011520939.1:p.Thr1750IlefsTer?
XM_011522638.2:c.5412_5415del	XP_011520940.2:p.Thr1805IlefsTer?
XM_011522639.2:c.5121_5124del	XP_011520941.1:p.Thr1708IlefsTer?
XM_011522640.2:c.5118_5121del	XP_011520942.1:p.Thr1707IlefsTer?
XM_017023615.1:c.5193_5196del	XP_016879104.1:p.Thr1732IlefsTer?
XM_017023616.1:c.5064_5067del	XP_016879105.1:p.Thr1689IlefsTer?
XM_017023617.1:c.5160_5163del	XP_016879106.1:p.Thr1721IlefsTer?
XM_017023618.1:c.3906_3909del	XP_016879107.1:p.Thr1303IlefsTer?
XM_024450413.1:c.5082_5085del	XP_024306181.1:p.Thr1695IlefsTer?
NM_000548.5:c.5196_5199del MANE Select	NP_000539.2:p.Thr1733IlefsTer?
NM_001370404.1:c.5064_5067del	NP_001357333.1:p.Thr1689IlefsTer?
NM_001370405.1:c.5055_5058del	NP_001357334.1:p.Thr1686IlefsTer?
NM_001077183.3:c.4995_4998del	NP_001070651.1:p.Thr1666IlefsTer?
NM_001114382.3:c.5127_5130del	NP_001107854.1:p.Thr1710IlefsTer?
NM_001318827.2:c.4887_4890del	NP_001305756.1:p.Thr1630IlefsTer?
NM_001318829.2:c.4851_4854del	NP_001305758.1:p.Thr1618IlefsTer?
NM_001318831.2:c.4464_4467del	NP_001305760.1:p.Thr1489IlefsTer?
NM_001318832.2:c.5028_5031del	NP_001305761.1:p.Thr1677IlefsTer?
NM_001363528.2:c.4998_5001del	NP_001350457.1:p.Thr1667IlefsTer?
NM_021055.3:c.5067_5070del	NP_066399.2:p.Thr1690IlefsTer?