Canonical Allele Identifier: CA10603313

Gene: TSC2

Linked Data

• ClinVar Variation Id: 280434
• ClinVar RCV Id: RCV000394053
• dbSNP Id: rs886041643
• MyVariant Identifiers: chr16:g.2135004_2135007del (hg19) ; chr16:g.2085003_2085006del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2085003_2085006del , CM000678.2:g.2085003_2085006del	GRCh38
NC_000016.9:g.2135004_2135007del , CM000678.1:g.2135004_2135007del	GRCh37
NC_000016.8:g.2075005_2075008del	NCBI36
NG_005895.1:g.40698_40701del , LRG_487:g.40698_40701del

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*2895_*2898del	ENSP00000455997.2:n.*2895_*2898del
ENST00000642206.2:c.4393_4396del	ENSP00000495146.2:p.Lys1465GlnfsTer?
ENST00000642365.2:c.4543_4546del	ENSP00000495459.2:p.Lys1515GlnfsTer?
ENST00000644417.2:c.*4926_*4929del	ENSP00000493912.2:n.*4926_*4929del
ENST00000646464.2:c.*7295_*7298del	ENSP00000496610.2:n.*7295_*7298del
ENST00000219476.9:c.4546_4549del MANE Select	ENSP00000219476.3:p.Lys1516GlnfsTer?
ENST00000350773.9:c.4477_4480del	ENSP00000344383.4:p.Lys1493GlnfsTer?
ENST00000401874.7:c.4345_4348del	ENSP00000384468.2:p.Lys1449GlnfsTer?
ENST00000568454.6:c.4378_4381del	ENSP00000454487.1:p.Lys1460GlnfsTer?
ENST00000569110.2:c.769_772del
ENST00000569930.2:n.2428_2431del
ENST00000642365.1:c.3200_3203del
ENST00000642561.1:c.4417_4420del	ENSP00000495099.1:p.Lys1473GlnfsTer?
ENST00000642728.1:n.728_731del
ENST00000642797.1:c.4348_4351del	ENSP00000493846.1:p.Lys1450GlnfsTer?
ENST00000642936.1:c.4414_4417del	ENSP00000494514.1:p.Lys1472GlnfsTer?
ENST00000643088.1:c.4345_4348del	ENSP00000494747.1:p.Lys1449GlnfsTer?
ENST00000643177.1:n.560_563del
ENST00000643426.1:n.2194_2197del
ENST00000643946.1:c.4477_4480del	ENSP00000495927.1:p.Lys1493GlnfsTer?
ENST00000644043.1:c.4417_4420del	ENSP00000496262.1:p.Lys1473GlnfsTer?
ENST00000644329.1:c.4345_4348del	ENSP00000496611.1:p.Lys1449GlnfsTer?
ENST00000644335.1:c.4348_4351del	ENSP00000496317.1:p.Lys1450GlnfsTer?
ENST00000644399.1:c.4467_4470del
ENST00000645024.1:n.2630_2633del
ENST00000646388.1:c.4546_4549del	ENSP00000495921.1:p.Lys1516GlnfsTer?
ENST00000646634.1:n.3361_3364del
ENST00000646674.1:n.1798_1801del
ENST00000647042.1:n.1769_1772del
ENST00000647180.1:n.1659_1662del
ENST00000219476.7:c.4546_4549del	ENSP00000219476.3:p.Lys1516GlnfsTer?
ENST00000350773.8:c.4477_4480del	ENSP00000344383.4:p.Lys1493GlnfsTer?
ENST00000382538.10:c.4201_4204del	ENSP00000371978.6:p.Lys1401GlnfsTer?
ENST00000401874.6:c.4345_4348del	ENSP00000384468.2:p.Lys1449GlnfsTer?
ENST00000439117.6:c.*3713_*3716del	ENSP00000406980.2:n.*3713_*3716del
ENST00000439673.6:c.4237_4240del	ENSP00000399232.2:p.Lys1413GlnfsTer?
ENST00000497886.5:n.2304_2307del
ENST00000568454.5:c.4378_4381del	ENSP00000454487.1:p.Lys1460GlnfsTer?
ENST00000569110.1:c.728_731del
ENST00000569930.1:n.1661_1664del
NM_000548.3:c.4546_4549del , LRG_487t1:c.4546_4549del	NP_000539.2:p.Lys1516GlnfsTer?
NM_001077183.1:c.4345_4348del	NP_001070651.1:p.Lys1449GlnfsTer?
NM_001114382.1:c.4477_4480del	NP_001107854.1:p.Lys1493GlnfsTer?
XM_005255529.3:c.4417_4420del	XP_005255586.2:p.Lys1473GlnfsTer?
XM_005255531.3:c.4348_4351del	XP_005255588.2:p.Lys1450GlnfsTer?
XM_011522636.1:c.4600_4603del	XP_011520938.1:p.Lys1534GlnfsTer?
XM_011522637.1:c.4597_4600del	XP_011520939.1:p.Lys1533GlnfsTer?
XM_011522638.1:c.4489_4492del	XP_011520940.1:p.Lys1497GlnfsTer?
XM_011522639.1:c.4471_4474del	XP_011520941.1:p.Lys1491GlnfsTer?
XM_011522640.1:c.4468_4471del	XP_011520942.1:p.Lys1490GlnfsTer?
XM_011522641.1:c.4237_4240del	XP_011520943.1:p.Lys1413GlnfsTer?
NM_000548.4:c.4546_4549del	NP_000539.2:p.Lys1516GlnfsTer?
NM_001077183.2:c.4345_4348del	NP_001070651.1:p.Lys1449GlnfsTer?
NM_001114382.2:c.4477_4480del	NP_001107854.1:p.Lys1493GlnfsTer?
NM_001318827.1:c.4237_4240del	NP_001305756.1:p.Lys1413GlnfsTer?
NM_001318829.1:c.4201_4204del	NP_001305758.1:p.Lys1401GlnfsTer?
NM_001318831.1:c.3814_3817del	NP_001305760.1:p.Lys1272GlnfsTer?
NM_001318832.1:c.4378_4381del	NP_001305761.1:p.Lys1460GlnfsTer?
NM_001363528.1:c.4348_4351del	NP_001350457.1:p.Lys1450GlnfsTer?
NM_021055.2:c.4417_4420del	NP_066399.2:p.Lys1473GlnfsTer?
XM_005255531.4:c.4348_4351del	XP_005255588.2:p.Lys1450GlnfsTer?
XM_011522636.2:c.4600_4603del	XP_011520938.1:p.Lys1534GlnfsTer?
XM_011522637.2:c.4597_4600del	XP_011520939.1:p.Lys1533GlnfsTer?
XM_011522638.2:c.4762_4765del	XP_011520940.2:p.Lys1588GlnfsTer?
XM_011522639.2:c.4471_4474del	XP_011520941.1:p.Lys1491GlnfsTer?
XM_011522640.2:c.4468_4471del	XP_011520942.1:p.Lys1490GlnfsTer?
XM_017023615.1:c.4543_4546del	XP_016879104.1:p.Lys1515GlnfsTer?
XM_017023616.1:c.4414_4417del	XP_016879105.1:p.Lys1472GlnfsTer?
XM_017023617.1:c.4510_4513del	XP_016879106.1:p.Lys1504GlnfsTer?
XM_017023618.1:c.3256_3259del	XP_016879107.1:p.Lys1086GlnfsTer?
XM_024450413.1:c.4345_4348del	XP_024306181.1:p.Lys1449GlnfsTer?
NM_000548.5:c.4546_4549del MANE Select	NP_000539.2:p.Lys1516GlnfsTer?
NM_001370404.1:c.4414_4417del	NP_001357333.1:p.Lys1472GlnfsTer?
NM_001370405.1:c.4417_4420del	NP_001357334.1:p.Lys1473GlnfsTer?
NM_001077183.3:c.4345_4348del	NP_001070651.1:p.Lys1449GlnfsTer?
NM_001114382.3:c.4477_4480del	NP_001107854.1:p.Lys1493GlnfsTer?
NM_001318827.2:c.4237_4240del	NP_001305756.1:p.Lys1413GlnfsTer?
NM_001318829.2:c.4201_4204del	NP_001305758.1:p.Lys1401GlnfsTer?
NM_001318831.2:c.3814_3817del	NP_001305760.1:p.Lys1272GlnfsTer?
NM_001318832.2:c.4378_4381del	NP_001305761.1:p.Lys1460GlnfsTer?
NM_001363528.2:c.4348_4351del	NP_001350457.1:p.Lys1450GlnfsTer?
NM_021055.3:c.4417_4420del	NP_066399.2:p.Lys1473GlnfsTer?