Canonical Allele Identifier: CA022400

Gene: TSC2

Linked Data

• ClinVar Variation Id: 49424
• ClinVar RCV Id: RCV000042684
• dbSNP Id: rs137854420
• MyVariant Identifiers: chr16:g.2138527_2138558del (hg19) ; chr16:g.2088526_2088557del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088526_2088557del , CM000678.2:g.2088526_2088557del	GRCh38
NC_000016.9:g.2138527_2138558del , CM000678.1:g.2138527_2138558del	GRCh37
NC_000016.8:g.2078528_2078559del	NCBI36
NG_005895.1:g.44221_44252del , LRG_487:g.44221_44252del
NG_008617.1:g.54664_54695del

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*3689_*3720del	ENSP00000455997.2:n.*3689_*3720del
ENST00000642206.2:c.5187_5218del	ENSP00000495146.2:p.Pro1733AlafsTer?
ENST00000642365.2:c.5337_5368del	ENSP00000495459.2:p.Pro1783AlafsTer?
ENST00000644417.2:c.*5853_*5884del	ENSP00000493912.2:n.*5853_*5884del
ENST00000646464.2:c.*8089_*8120del	ENSP00000496610.2:n.*8089_*8120del
ENST00000219476.9:c.5340_5371del MANE Select	ENSP00000219476.3:p.Pro1784AlafsTer?
ENST00000350773.9:c.5271_5302del	ENSP00000344383.4:p.Pro1761AlafsTer?
ENST00000401874.7:c.5139_5170del	ENSP00000384468.2:p.Pro1717AlafsTer?
ENST00000568454.6:c.5172_5203del	ENSP00000454487.1:p.Pro1728AlafsTer?
ENST00000569110.2:c.1563_1594del
ENST00000569930.2:n.3222_3253del
ENST00000642365.1:c.3994_4025del
ENST00000642561.1:c.5199_5230del	ENSP00000495099.1:p.Pro1737AlafsTer?
ENST00000642791.1:n.937_968del
ENST00000642797.1:c.5142_5173del	ENSP00000493846.1:p.Pro1718AlafsTer?
ENST00000642936.1:c.5208_5239del	ENSP00000494514.1:p.Pro1740AlafsTer?
ENST00000643088.1:c.5133_5164del	ENSP00000494747.1:p.Pro1715AlafsTer?
ENST00000643426.1:n.2988_3019del
ENST00000643946.1:c.5265_5296del	ENSP00000495927.1:p.Pro1759AlafsTer?
ENST00000644043.1:c.5211_5242del	ENSP00000496262.1:p.Pro1741AlafsTer?
ENST00000644329.1:c.5226_5257del	ENSP00000496611.1:p.Pro1746AlafsTer?
ENST00000644335.1:c.5136_5167del	ENSP00000496317.1:p.Pro1716AlafsTer?
ENST00000644399.1:c.5261_5292del
ENST00000645024.1:n.3424_3455del
ENST00000646388.1:c.5334_5365del	ENSP00000495921.1:p.Pro1782AlafsTer?
ENST00000646634.1:n.4155_4186del
ENST00000646674.1:n.2592_2623del
ENST00000647042.1:n.2563_2594del
ENST00000647180.1:n.2453_2484del
ENST00000219476.7:c.5340_5371del	ENSP00000219476.3:p.Pro1784AlafsTer?
ENST00000350773.8:c.5271_5302del	ENSP00000344383.4:p.Pro1761AlafsTer?
ENST00000382538.10:c.4995_5026del	ENSP00000371978.6:p.Pro1669AlafsTer?
ENST00000401874.6:c.5139_5170del	ENSP00000384468.2:p.Pro1717AlafsTer?
ENST00000439117.6:c.*4507_*4538del	ENSP00000406980.2:n.*4507_*4538del
ENST00000439673.6:c.5031_5062del	ENSP00000399232.2:p.Pro1681AlafsTer?
ENST00000497886.5:n.3063_3094del
ENST00000568454.5:c.5172_5203del	ENSP00000454487.1:p.Pro1728AlafsTer?
ENST00000569110.1:c.1522_1553del
ENST00000569930.1:n.2455_2486del
NM_000548.3:c.5340_5371del , LRG_487t1:c.5340_5371del	NP_000539.2:p.Pro1784AlafsTer?
NM_001077183.1:c.5139_5170del	NP_001070651.1:p.Pro1717AlafsTer?
NM_001114382.1:c.5271_5302del	NP_001107854.1:p.Pro1761AlafsTer?
XM_005255529.3:c.5211_5242del	XP_005255586.2:p.Pro1741AlafsTer?
XM_005255531.3:c.5142_5173del	XP_005255588.2:p.Pro1718AlafsTer?
XM_011522636.1:c.5394_5425del	XP_011520938.1:p.Pro1802AlafsTer?
XM_011522637.1:c.5391_5422del	XP_011520939.1:p.Pro1801AlafsTer?
XM_011522638.1:c.5283_5314del	XP_011520940.1:p.Pro1765AlafsTer?
XM_011522639.1:c.5265_5296del	XP_011520941.1:p.Pro1759AlafsTer?
XM_011522640.1:c.5262_5293del	XP_011520942.1:p.Pro1758AlafsTer?
XM_011522641.1:c.5031_5062del	XP_011520943.1:p.Pro1681AlafsTer?
NM_000548.4:c.5340_5371del	NP_000539.2:p.Pro1784AlafsTer?
NM_001077183.2:c.5139_5170del	NP_001070651.1:p.Pro1717AlafsTer?
NM_001114382.2:c.5271_5302del	NP_001107854.1:p.Pro1761AlafsTer?
NM_001318827.1:c.5031_5062del	NP_001305756.1:p.Pro1681AlafsTer?
NM_001318829.1:c.4995_5026del	NP_001305758.1:p.Pro1669AlafsTer?
NM_001318831.1:c.4608_4639del	NP_001305760.1:p.Pro1540AlafsTer?
NM_001318832.1:c.5172_5203del	NP_001305761.1:p.Pro1728AlafsTer?
NM_001363528.1:c.5142_5173del	NP_001350457.1:p.Pro1718AlafsTer?
NM_021055.2:c.5211_5242del	NP_066399.2:p.Pro1741AlafsTer?
XM_005255531.4:c.5142_5173del	XP_005255588.2:p.Pro1718AlafsTer?
XM_011522636.2:c.5394_5425del	XP_011520938.1:p.Pro1802AlafsTer?
XM_011522637.2:c.5391_5422del	XP_011520939.1:p.Pro1801AlafsTer?
XM_011522638.2:c.5556_5587del	XP_011520940.2:p.Pro1856AlafsTer?
XM_011522639.2:c.5265_5296del	XP_011520941.1:p.Pro1759AlafsTer?
XM_011522640.2:c.5262_5293del	XP_011520942.1:p.Pro1758AlafsTer?
XM_017023615.1:c.5337_5368del	XP_016879104.1:p.Pro1783AlafsTer?
XM_017023616.1:c.5208_5239del	XP_016879105.1:p.Pro1740AlafsTer?
XM_017023617.1:c.5304_5335del	XP_016879106.1:p.Pro1772AlafsTer?
XM_017023618.1:c.4050_4081del	XP_016879107.1:p.Pro1354AlafsTer?
XM_024450413.1:c.5226_5257del	XP_024306181.1:p.Pro1746AlafsTer?
NM_000548.5:c.5340_5371del MANE Select	NP_000539.2:p.Pro1784AlafsTer?
NM_001370404.1:c.5208_5239del	NP_001357333.1:p.Pro1740AlafsTer?
NM_001370405.1:c.5199_5230del	NP_001357334.1:p.Pro1737AlafsTer?
NM_001077183.3:c.5139_5170del	NP_001070651.1:p.Pro1717AlafsTer?
NM_001114382.3:c.5271_5302del	NP_001107854.1:p.Pro1761AlafsTer?
NM_001318827.2:c.5031_5062del	NP_001305756.1:p.Pro1681AlafsTer?
NM_001318829.2:c.4995_5026del	NP_001305758.1:p.Pro1669AlafsTer?
NM_001318831.2:c.4608_4639del	NP_001305760.1:p.Pro1540AlafsTer?
NM_001318832.2:c.5172_5203del	NP_001305761.1:p.Pro1728AlafsTer?
NM_001363528.2:c.5142_5173del	NP_001350457.1:p.Pro1718AlafsTer?
NM_021055.3:c.5211_5242del	NP_066399.2:p.Pro1741AlafsTer?