Canonical Allele Identifier: CA020744

Gene: TSC2

Linked Data

• ClinVar Variation Id: 50017
• ClinVar RCV Id: RCV000043285
• dbSNP Id: rs137854401
• MyVariant Identifiers: chr16:g.2135264_2135266del (hg19) ; chr16:g.2085263_2085265del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2085263_2085265del , CM000678.2:g.2085263_2085265del	GRCh38
NC_000016.9:g.2135264_2135266del , CM000678.1:g.2135264_2135266del	GRCh37
NC_000016.8:g.2075265_2075267del	NCBI36
NG_005895.1:g.40958_40960del , LRG_487:g.40958_40960del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2952_*2954del	ENSP00000455997.2:n.*2952_*2954del
ENST00000642206.2:c.4450_4452del	ENSP00000495146.2:p.Asp1484del
ENST00000642365.2:c.4600_4602del	ENSP00000495459.2:p.Asp1534del
ENST00000644417.2:c.*4983_*4985del	ENSP00000493912.2:n.*4983_*4985del
ENST00000646464.2:c.*7352_*7354del	ENSP00000496610.2:n.*7352_*7354del
ENST00000219476.9:c.4603_4605del MANE Select	ENSP00000219476.3:p.Asp1535del
ENST00000350773.9:c.4534_4536del	ENSP00000344383.4:p.Asp1512del
ENST00000401874.7:c.4402_4404del	ENSP00000384468.2:p.Asp1468del
ENST00000568454.6:c.4435_4437del	ENSP00000454487.1:p.Asp1479del
ENST00000569110.2:c.826_828del
ENST00000569930.2:n.2485_2487del
ENST00000642365.1:c.3257_3259del
ENST00000642561.1:c.4474_4476del	ENSP00000495099.1:p.Asp1492del
ENST00000642728.1:n.785_787del
ENST00000642791.1:n.200_202del
ENST00000642797.1:c.4405_4407del	ENSP00000493846.1:p.Asp1469del
ENST00000642936.1:c.4471_4473del	ENSP00000494514.1:p.Asp1491del
ENST00000643088.1:c.4396_4398del	ENSP00000494747.1:p.Asp1466del
ENST00000643177.1:n.617_619del
ENST00000643426.1:n.2251_2253del
ENST00000643946.1:c.4528_4530del	ENSP00000495927.1:p.Asp1510del
ENST00000644043.1:c.4474_4476del	ENSP00000496262.1:p.Asp1492del
ENST00000644278.1:n.85_87del
ENST00000644329.1:c.4402_4404del	ENSP00000496611.1:p.Asp1468del
ENST00000644335.1:c.4399_4401del	ENSP00000496317.1:p.Asp1467del
ENST00000644399.1:c.4524_4526del
ENST00000645024.1:n.2687_2689del
ENST00000646388.1:c.4597_4599del	ENSP00000495921.1:p.Asp1533del
ENST00000646634.1:n.3418_3420del
ENST00000646674.1:n.1855_1857del
ENST00000647042.1:n.1826_1828del
ENST00000647180.1:n.1716_1718del
ENST00000219476.7:c.4603_4605del	ENSP00000219476.3:p.Asp1535del
ENST00000350773.8:c.4534_4536del	ENSP00000344383.4:p.Asp1512del
ENST00000382538.10:c.4258_4260del	ENSP00000371978.6:p.Asp1420del
ENST00000401874.6:c.4402_4404del	ENSP00000384468.2:p.Asp1468del
ENST00000439117.6:c.*3770_*3772del	ENSP00000406980.2:n.*3770_*3772del
ENST00000439673.6:c.4294_4296del	ENSP00000399232.2:p.Asp1432del
ENST00000497886.5:n.2361_2363del
ENST00000568454.5:c.4435_4437del	ENSP00000454487.1:p.Asp1479del
ENST00000569110.1:c.785_787del
ENST00000569930.1:n.1718_1720del
NM_000548.3:c.4603_4605del , LRG_487t1:c.4603_4605del	NP_000539.2:p.Asp1535del
NM_001077183.1:c.4402_4404del	NP_001070651.1:p.Asp1468del
NM_001114382.1:c.4534_4536del	NP_001107854.1:p.Asp1512del
XM_005255529.3:c.4474_4476del	XP_005255586.2:p.Asp1492del
XM_005255531.3:c.4405_4407del	XP_005255588.2:p.Asp1469del
XM_011522636.1:c.4657_4659del	XP_011520938.1:p.Asp1553del
XM_011522637.1:c.4654_4656del	XP_011520939.1:p.Asp1552del
XM_011522638.1:c.4546_4548del	XP_011520940.1:p.Asp1516del
XM_011522639.1:c.4528_4530del	XP_011520941.1:p.Asp1510del
XM_011522640.1:c.4525_4527del	XP_011520942.1:p.Asp1509del
XM_011522641.1:c.4294_4296del	XP_011520943.1:p.Asp1432del
NM_000548.4:c.4603_4605del	NP_000539.2:p.Asp1535del
NM_001077183.2:c.4402_4404del	NP_001070651.1:p.Asp1468del
NM_001114382.2:c.4534_4536del	NP_001107854.1:p.Asp1512del
NM_001318827.1:c.4294_4296del	NP_001305756.1:p.Asp1432del
NM_001318829.1:c.4258_4260del	NP_001305758.1:p.Asp1420del
NM_001318831.1:c.3871_3873del	NP_001305760.1:p.Asp1291del
NM_001318832.1:c.4435_4437del	NP_001305761.1:p.Asp1479del
NM_001363528.1:c.4405_4407del	NP_001350457.1:p.Asp1469del
NM_021055.2:c.4474_4476del	NP_066399.2:p.Asp1492del
XM_005255531.4:c.4405_4407del	XP_005255588.2:p.Asp1469del
XM_011522636.2:c.4657_4659del	XP_011520938.1:p.Asp1553del
XM_011522637.2:c.4654_4656del	XP_011520939.1:p.Asp1552del
XM_011522638.2:c.4819_4821del	XP_011520940.2:p.Asp1607del
XM_011522639.2:c.4528_4530del	XP_011520941.1:p.Asp1510del
XM_011522640.2:c.4525_4527del	XP_011520942.1:p.Asp1509del
XM_017023615.1:c.4600_4602del	XP_016879104.1:p.Asp1534del
XM_017023616.1:c.4471_4473del	XP_016879105.1:p.Asp1491del
XM_017023617.1:c.4567_4569del	XP_016879106.1:p.Asp1523del
XM_017023618.1:c.3313_3315del	XP_016879107.1:p.Asp1105del
XM_024450413.1:c.4402_4404del	XP_024306181.1:p.Asp1468del
NM_000548.5:c.4603_4605del MANE Select	NP_000539.2:p.Asp1535del
NM_001370404.1:c.4471_4473del	NP_001357333.1:p.Asp1491del
NM_001370405.1:c.4474_4476del	NP_001357334.1:p.Asp1492del
NM_001077183.3:c.4402_4404del	NP_001070651.1:p.Asp1468del
NM_001114382.3:c.4534_4536del	NP_001107854.1:p.Asp1512del
NM_001318827.2:c.4294_4296del	NP_001305756.1:p.Asp1432del
NM_001318829.2:c.4258_4260del	NP_001305758.1:p.Asp1420del
NM_001318831.2:c.3871_3873del	NP_001305760.1:p.Asp1291del
NM_001318832.2:c.4435_4437del	NP_001305761.1:p.Asp1479del
NM_001363528.2:c.4405_4407del	NP_001350457.1:p.Asp1469del
NM_021055.3:c.4474_4476del	NP_066399.2:p.Asp1492del