Canonical Allele Identifier: CA020424

Gene: TSC2

Linked Data

• ClinVar Variation Id: 49488
• ClinVar RCV Id: RCV000042748
• dbSNP Id: rs137854293
• MyVariant Identifiers: chr16:g.2134647_2134651del (hg19) ; chr16:g.2134643_2134647del (hg19) ; chr16:g.2084646_2084650del (hg38) ; chr16:g.2084642_2084646del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2084646_2084650del , CM000678.2:g.2084646_2084650del	GRCh38
NC_000016.9:g.2134647_2134651del , CM000678.1:g.2134647_2134651del	GRCh37
NC_000016.8:g.2074648_2074652del	NCBI36
NG_005895.1:g.40341_40345del , LRG_487:g.40341_40345del

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*2773_*2777del	ENSP00000455997.2:n.*2773_*2777del
ENST00000642206.2:c.4271_4275del	ENSP00000495146.2:p.Val1424GlufsTer?
ENST00000642365.2:c.4421_4425del	ENSP00000495459.2:p.Val1474GlufsTer?
ENST00000644417.2:c.*4804_*4808del	ENSP00000493912.2:n.*4804_*4808del
ENST00000646464.2:c.*7173_*7177del	ENSP00000496610.2:n.*7173_*7177del
ENST00000219476.9:c.4424_4428del MANE Select	ENSP00000219476.3:p.Val1475GlufsTer?
ENST00000350773.9:c.4355_4359del	ENSP00000344383.4:p.Val1452GlufsTer?
ENST00000401874.7:c.4223_4227del	ENSP00000384468.2:p.Val1408GlufsTer?
ENST00000568454.6:c.4256_4260del	ENSP00000454487.1:p.Val1419GlufsTer?
ENST00000569110.2:c.660_664del
ENST00000569930.2:n.2306_2310del
ENST00000642365.1:c.3078_3082del
ENST00000642561.1:c.4295_4299del	ENSP00000495099.1:p.Val1432GlufsTer?
ENST00000642728.1:n.606_610del
ENST00000642797.1:c.4226_4230del	ENSP00000493846.1:p.Val1409GlufsTer?
ENST00000642936.1:c.4292_4296del	ENSP00000494514.1:p.Val1431GlufsTer?
ENST00000643088.1:c.4223_4227del	ENSP00000494747.1:p.Val1408GlufsTer?
ENST00000643177.1:n.438_442del
ENST00000643426.1:n.2072_2076del
ENST00000643946.1:c.4355_4359del	ENSP00000495927.1:p.Val1452GlufsTer?
ENST00000644043.1:c.4295_4299del	ENSP00000496262.1:p.Val1432GlufsTer?
ENST00000644329.1:c.4223_4227del	ENSP00000496611.1:p.Val1408GlufsTer?
ENST00000644335.1:c.4226_4230del	ENSP00000496317.1:p.Val1409GlufsTer?
ENST00000644399.1:c.4345_4349del
ENST00000645024.1:n.2508_2512del
ENST00000646388.1:c.4424_4428del	ENSP00000495921.1:p.Val1475GlufsTer?
ENST00000646634.1:n.3239_3243del
ENST00000646674.1:n.1676_1680del
ENST00000647042.1:n.1647_1651del
ENST00000647180.1:n.1537_1541del
ENST00000219476.7:c.4424_4428del	ENSP00000219476.3:p.Val1475GlufsTer?
ENST00000350773.8:c.4355_4359del	ENSP00000344383.4:p.Val1452GlufsTer?
ENST00000382538.10:c.4079_4083del	ENSP00000371978.6:p.Val1360GlufsTer?
ENST00000401874.6:c.4223_4227del	ENSP00000384468.2:p.Val1408GlufsTer?
ENST00000439117.6:c.*3591_*3595del	ENSP00000406980.2:n.*3591_*3595del
ENST00000439673.6:c.4115_4119del	ENSP00000399232.2:p.Val1372GlufsTer?
ENST00000497886.5:n.2182_2186del
ENST00000568454.5:c.4256_4260del	ENSP00000454487.1:p.Val1419GlufsTer?
ENST00000569110.1:c.606_610del
ENST00000569930.1:n.1539_1543del
NM_000548.3:c.4424_4428del , LRG_487t1:c.4424_4428del	NP_000539.2:p.Val1475GlufsTer?
NM_001077183.1:c.4223_4227del	NP_001070651.1:p.Val1408GlufsTer?
NM_001114382.1:c.4355_4359del	NP_001107854.1:p.Val1452GlufsTer?
XM_005255529.3:c.4295_4299del	XP_005255586.2:p.Val1432GlufsTer?
XM_005255531.3:c.4226_4230del	XP_005255588.2:p.Val1409GlufsTer?
XM_011522636.1:c.4478_4482del	XP_011520938.1:p.Val1493GlufsTer?
XM_011522637.1:c.4475_4479del	XP_011520939.1:p.Val1492GlufsTer?
XM_011522638.1:c.4367_4371del	XP_011520940.1:p.Val1456GlufsTer?
XM_011522639.1:c.4349_4353del	XP_011520941.1:p.Val1450GlufsTer?
XM_011522640.1:c.4346_4350del	XP_011520942.1:p.Val1449GlufsTer?
XM_011522641.1:c.4115_4119del	XP_011520943.1:p.Val1372GlufsTer?
NM_000548.4:c.4424_4428del	NP_000539.2:p.Val1475GlufsTer?
NM_001077183.2:c.4223_4227del	NP_001070651.1:p.Val1408GlufsTer?
NM_001114382.2:c.4355_4359del	NP_001107854.1:p.Val1452GlufsTer?
NM_001318827.1:c.4115_4119del	NP_001305756.1:p.Val1372GlufsTer?
NM_001318829.1:c.4079_4083del	NP_001305758.1:p.Val1360GlufsTer?
NM_001318831.1:c.3692_3696del	NP_001305760.1:p.Val1231GlufsTer?
NM_001318832.1:c.4256_4260del	NP_001305761.1:p.Val1419GlufsTer?
NM_001363528.1:c.4226_4230del	NP_001350457.1:p.Val1409GlufsTer?
NM_021055.2:c.4295_4299del	NP_066399.2:p.Val1432GlufsTer?
XM_005255531.4:c.4226_4230del	XP_005255588.2:p.Val1409GlufsTer?
XM_011522636.2:c.4478_4482del	XP_011520938.1:p.Val1493GlufsTer?
XM_011522637.2:c.4475_4479del	XP_011520939.1:p.Val1492GlufsTer?
XM_011522638.2:c.4640_4644del	XP_011520940.2:p.Val1547GlufsTer?
XM_011522639.2:c.4349_4353del	XP_011520941.1:p.Val1450GlufsTer?
XM_011522640.2:c.4346_4350del	XP_011520942.1:p.Val1449GlufsTer?
XM_017023615.1:c.4421_4425del	XP_016879104.1:p.Val1474GlufsTer?
XM_017023616.1:c.4292_4296del	XP_016879105.1:p.Val1431GlufsTer?
XM_017023617.1:c.4388_4392del	XP_016879106.1:p.Val1463GlufsTer?
XM_017023618.1:c.3134_3138del	XP_016879107.1:p.Val1045GlufsTer?
XM_024450413.1:c.4223_4227del	XP_024306181.1:p.Val1408GlufsTer?
NM_000548.5:c.4424_4428del MANE Select	NP_000539.2:p.Val1475GlufsTer?
NM_001370404.1:c.4292_4296del	NP_001357333.1:p.Val1431GlufsTer?
NM_001370405.1:c.4295_4299del	NP_001357334.1:p.Val1432GlufsTer?
NM_001077183.3:c.4223_4227del	NP_001070651.1:p.Val1408GlufsTer?
NM_001114382.3:c.4355_4359del	NP_001107854.1:p.Val1452GlufsTer?
NM_001318827.2:c.4115_4119del	NP_001305756.1:p.Val1372GlufsTer?
NM_001318829.2:c.4079_4083del	NP_001305758.1:p.Val1360GlufsTer?
NM_001318831.2:c.3692_3696del	NP_001305760.1:p.Val1231GlufsTer?
NM_001318832.2:c.4256_4260del	NP_001305761.1:p.Val1419GlufsTer?
NM_001363528.2:c.4226_4230del	NP_001350457.1:p.Val1409GlufsTer?
NM_021055.3:c.4295_4299del	NP_066399.2:p.Val1432GlufsTer?