Canonical Allele Identifier: CA021081

Gene: TSC2

Linked Data

• ClinVar Variation Id: 49325
• ClinVar RCV Id: RCV000042585 ; RCV000201210 ; RCV001283509
• dbSNP Id: rs137854331
• MyVariant Identifiers: chr16:g.2136373_2136375del (hg19) ; chr16:g.2086372_2086374del (hg38)
• PubMed: PMID:9463313 ; PMID:17304050 ; PMID:22748302 ; PMID:22867869

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2086372_2086374del , CM000678.2:g.2086372_2086374del	GRCh38
NC_000016.9:g.2136373_2136375del , CM000678.1:g.2136373_2136375del	GRCh37
NC_000016.8:g.2076374_2076376del	NCBI36
NG_005895.1:g.42067_42069del , LRG_487:g.42067_42069del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3191_*3193del	ENSP00000455997.2:n.*3191_*3193del
ENST00000642206.2:c.4689_4691del	ENSP00000495146.2:p.Ile1563del
ENST00000642365.2:c.4839_4841del	ENSP00000495459.2:p.Ile1613del
ENST00000644417.2:c.*5355_*5357del	ENSP00000493912.2:n.*5355_*5357del
ENST00000646464.2:c.*7591_*7593del	ENSP00000496610.2:n.*7591_*7593del
ENST00000219476.9:c.4842_4844del MANE Select	ENSP00000219476.3:p.Ile1614del
ENST00000350773.9:c.4773_4775del	ENSP00000344383.4:p.Ile1591del
ENST00000401874.7:c.4641_4643del	ENSP00000384468.2:p.Ile1547del
ENST00000568454.6:c.4674_4676del	ENSP00000454487.1:p.Ile1558del
ENST00000569110.2:c.1065_1067del
ENST00000569930.2:n.2724_2726del
ENST00000642365.1:c.3496_3498del
ENST00000642561.1:c.4713_4715del	ENSP00000495099.1:p.Ile1571del
ENST00000642728.1:n.1024_1026del
ENST00000642791.1:n.439_441del
ENST00000642797.1:c.4644_4646del	ENSP00000493846.1:p.Ile1548del
ENST00000642936.1:c.4710_4712del	ENSP00000494514.1:p.Ile1570del
ENST00000643088.1:c.4635_4637del	ENSP00000494747.1:p.Ile1545del
ENST00000643177.1:n.856_858del
ENST00000643426.1:n.2490_2492del
ENST00000643946.1:c.4767_4769del	ENSP00000495927.1:p.Ile1589del
ENST00000644043.1:c.4713_4715del	ENSP00000496262.1:p.Ile1571del
ENST00000644278.1:n.324_326del
ENST00000644329.1:c.4641_4643del	ENSP00000496611.1:p.Ile1547del
ENST00000644335.1:c.4638_4640del	ENSP00000496317.1:p.Ile1546del
ENST00000644399.1:c.4763_4765del
ENST00000645024.1:n.2926_2928del
ENST00000646388.1:c.4836_4838del	ENSP00000495921.1:p.Ile1612del
ENST00000646634.1:n.3657_3659del
ENST00000646674.1:n.2094_2096del
ENST00000647042.1:n.2065_2067del
ENST00000647180.1:n.1955_1957del
ENST00000219476.7:c.4842_4844del	ENSP00000219476.3:p.Ile1614del
ENST00000350773.8:c.4773_4775del	ENSP00000344383.4:p.Ile1591del
ENST00000382538.10:c.4497_4499del	ENSP00000371978.6:p.Ile1499del
ENST00000401874.6:c.4641_4643del	ENSP00000384468.2:p.Ile1547del
ENST00000439117.6:c.*4009_*4011del	ENSP00000406980.2:n.*4009_*4011del
ENST00000439673.6:c.4533_4535del	ENSP00000399232.2:p.Ile1511del
ENST00000497886.5:n.2600_2602del
ENST00000568454.5:c.4674_4676del	ENSP00000454487.1:p.Ile1558del
ENST00000569110.1:c.1024_1026del
ENST00000569930.1:n.1957_1959del
NM_000548.3:c.4842_4844del , LRG_487t1:c.4842_4844del	NP_000539.2:p.Ile1614del
NM_001077183.1:c.4641_4643del	NP_001070651.1:p.Ile1547del
NM_001114382.1:c.4773_4775del	NP_001107854.1:p.Ile1591del
XM_005255529.3:c.4713_4715del	XP_005255586.2:p.Ile1571del
XM_005255531.3:c.4644_4646del	XP_005255588.2:p.Ile1548del
XM_011522636.1:c.4896_4898del	XP_011520938.1:p.Ile1632del
XM_011522637.1:c.4893_4895del	XP_011520939.1:p.Ile1631del
XM_011522638.1:c.4785_4787del	XP_011520940.1:p.Ile1595del
XM_011522639.1:c.4767_4769del	XP_011520941.1:p.Ile1589del
XM_011522640.1:c.4764_4766del	XP_011520942.1:p.Ile1588del
XM_011522641.1:c.4533_4535del	XP_011520943.1:p.Ile1511del
NM_000548.4:c.4842_4844del	NP_000539.2:p.Ile1614del
NM_001077183.2:c.4641_4643del	NP_001070651.1:p.Ile1547del
NM_001114382.2:c.4773_4775del	NP_001107854.1:p.Ile1591del
NM_001318827.1:c.4533_4535del	NP_001305756.1:p.Ile1511del
NM_001318829.1:c.4497_4499del	NP_001305758.1:p.Ile1499del
NM_001318831.1:c.4110_4112del	NP_001305760.1:p.Ile1370del
NM_001318832.1:c.4674_4676del	NP_001305761.1:p.Ile1558del
NM_001363528.1:c.4644_4646del	NP_001350457.1:p.Ile1548del
NM_021055.2:c.4713_4715del	NP_066399.2:p.Ile1571del
XM_005255531.4:c.4644_4646del	XP_005255588.2:p.Ile1548del
XM_011522636.2:c.4896_4898del	XP_011520938.1:p.Ile1632del
XM_011522637.2:c.4893_4895del	XP_011520939.1:p.Ile1631del
XM_011522638.2:c.5058_5060del	XP_011520940.2:p.Ile1686del
XM_011522639.2:c.4767_4769del	XP_011520941.1:p.Ile1589del
XM_011522640.2:c.4764_4766del	XP_011520942.1:p.Ile1588del
XM_017023615.1:c.4839_4841del	XP_016879104.1:p.Ile1613del
XM_017023616.1:c.4710_4712del	XP_016879105.1:p.Ile1570del
XM_017023617.1:c.4806_4808del	XP_016879106.1:p.Ile1602del
XM_017023618.1:c.3552_3554del	XP_016879107.1:p.Ile1184del
XM_024450413.1:c.4641_4643del	XP_024306181.1:p.Ile1547del
NM_000548.5:c.4842_4844del MANE Select	NP_000539.2:p.Ile1614del
NM_001370404.1:c.4710_4712del	NP_001357333.1:p.Ile1570del
NM_001370405.1:c.4713_4715del	NP_001357334.1:p.Ile1571del
NM_001077183.3:c.4641_4643del	NP_001070651.1:p.Ile1547del
NM_001114382.3:c.4773_4775del	NP_001107854.1:p.Ile1591del
NM_001318827.2:c.4533_4535del	NP_001305756.1:p.Ile1511del
NM_001318829.2:c.4497_4499del	NP_001305758.1:p.Ile1499del
NM_001318831.2:c.4110_4112del	NP_001305760.1:p.Ile1370del
NM_001318832.2:c.4674_4676del	NP_001305761.1:p.Ile1558del
NM_001363528.2:c.4644_4646del	NP_001350457.1:p.Ile1548del
NM_021055.3:c.4713_4715del	NP_066399.2:p.Ile1571del