Canonical Allele Identifier: CA276756699

Gene: TSC2

Linked Data

• dbSNP Id: rs754507235
• gnomAD v2: 16-2136673-C-CT
• gnomAD v3: 16-2086672-C-CT
• gnomAD v4: 16-2086672-C-CT
• MyVariant Identifiers: chr16:g.2136673_2136674insT (hg19) ; chr16:g.2086672_2086673insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2086672_2086673insT , CM000678.2:g.2086672_2086673insT	GRCh38
NC_000016.9:g.2136673_2136674insT , CM000678.1:g.2136673_2136674insT	GRCh37
NC_000016.8:g.2076674_2076675insT	NCBI36
NG_005895.1:g.42367_42368insT , LRG_487:g.42367_42368insT

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*3199-60_*3199-59insT	ENSP00000455997.2:n.*3199-60_*3199-59insT
ENST00000642206.2:c.4697-60_4697-59insT	ENSP00000495146.2:n.4697-60_4697-59insT
ENST00000642365.2:c.4847-60_4847-59insT	ENSP00000495459.2:n.4847-60_4847-59insT
ENST00000644417.2:c.*5363-60_*5363-59insT	ENSP00000493912.2:n.*5363-60_*5363-59insT
ENST00000646464.2:c.*7599-60_*7599-59insT	ENSP00000496610.2:n.*7599-60_*7599-59insT
ENST00000219476.9:c.4850-60_4850-59insT MANE Select	ENSP00000219476.3:n.4850-60_4850-59insT
ENST00000350773.9:c.4781-60_4781-59insT	ENSP00000344383.4:n.4781-60_4781-59insT
ENST00000401874.7:c.4649-60_4649-59insT	ENSP00000384468.2:n.4649-60_4649-59insT
ENST00000568454.6:c.4682-60_4682-59insT	ENSP00000454487.1:n.4682-60_4682-59insT
ENST00000569110.2:c.1073-60_1073-59insT
ENST00000569930.2:n.2732-60_2732-59insT
ENST00000642365.1:c.3504-60_3504-59insT
ENST00000642561.1:c.4721-60_4721-59insT	ENSP00000495099.1:n.4721-60_4721-59insT
ENST00000642728.1:n.1032-60_1032-59insT
ENST00000642791.1:n.447-60_447-59insT
ENST00000642797.1:c.4652-60_4652-59insT	ENSP00000493846.1:n.4652-60_4652-59insT
ENST00000642936.1:c.4718-60_4718-59insT	ENSP00000494514.1:n.4718-60_4718-59insT
ENST00000643088.1:c.4643-60_4643-59insT	ENSP00000494747.1:n.4643-60_4643-59insT
ENST00000643177.1:n.864-60_864-59insT
ENST00000643426.1:n.2498-60_2498-59insT
ENST00000643946.1:c.4775-60_4775-59insT	ENSP00000495927.1:n.4775-60_4775-59insT
ENST00000644043.1:c.4721-60_4721-59insT	ENSP00000496262.1:n.4721-60_4721-59insT
ENST00000644278.1:n.332-60_332-59insT
ENST00000644329.1:c.4649-60_4649-59insT	ENSP00000496611.1:n.4649-60_4649-59insT
ENST00000644335.1:c.4646-60_4646-59insT	ENSP00000496317.1:n.4646-60_4646-59insT
ENST00000644399.1:c.4771-60_4771-59insT
ENST00000645024.1:n.2934-60_2934-59insT
ENST00000646388.1:c.4844-60_4844-59insT	ENSP00000495921.1:n.4844-60_4844-59insT
ENST00000646557.1:n.11-60_11-59insT
ENST00000646634.1:n.3665-60_3665-59insT
ENST00000646674.1:n.2102-60_2102-59insT
ENST00000647042.1:n.2073-60_2073-59insT
ENST00000647180.1:n.1963-60_1963-59insT
ENST00000219476.7:c.4850-60_4850-59insT	ENSP00000219476.3:n.4850-60_4850-59insT
ENST00000350773.8:c.4781-60_4781-59insT	ENSP00000344383.4:n.4781-60_4781-59insT
ENST00000382538.10:c.4505-60_4505-59insT	ENSP00000371978.6:n.4505-60_4505-59insT
ENST00000401874.6:c.4649-60_4649-59insT	ENSP00000384468.2:n.4649-60_4649-59insT
ENST00000439117.6:c.*4017-60_*4017-59insT	ENSP00000406980.2:n.*4017-60_*4017-59insT
ENST00000439673.6:c.4541-60_4541-59insT	ENSP00000399232.2:n.4541-60_4541-59insT
ENST00000497886.5:n.2608-95_2608-94insT
ENST00000568454.5:c.4682-60_4682-59insT	ENSP00000454487.1:n.4682-60_4682-59insT
ENST00000569110.1:c.1032-60_1032-59insT
ENST00000569930.1:n.1965-60_1965-59insT
NM_000548.3:c.4850-60_4850-59insT , LRG_487t1:c.4850-60_4850-59insT	NP_000539.2:n.4850-60_4850-59insT
NM_001077183.1:c.4649-60_4649-59insT	NP_001070651.1:n.4649-60_4649-59insT
NM_001114382.1:c.4781-60_4781-59insT	NP_001107854.1:n.4781-60_4781-59insT
XM_005255529.3:c.4721-60_4721-59insT	XP_005255586.2:n.4721-60_4721-59insT
XM_005255531.3:c.4652-60_4652-59insT	XP_005255588.2:n.4652-60_4652-59insT
XM_011522636.1:c.4904-60_4904-59insT	XP_011520938.1:n.4904-60_4904-59insT
XM_011522637.1:c.4901-60_4901-59insT	XP_011520939.1:n.4901-60_4901-59insT
XM_011522638.1:c.4793-60_4793-59insT	XP_011520940.1:n.4793-60_4793-59insT
XM_011522639.1:c.4775-60_4775-59insT	XP_011520941.1:n.4775-60_4775-59insT
XM_011522640.1:c.4772-60_4772-59insT	XP_011520942.1:n.4772-60_4772-59insT
XM_011522641.1:c.4541-60_4541-59insT	XP_011520943.1:n.4541-60_4541-59insT
NM_000548.4:c.4850-60_4850-59insT	NP_000539.2:n.4850-60_4850-59insT
NM_001077183.2:c.4649-60_4649-59insT	NP_001070651.1:n.4649-60_4649-59insT
NM_001114382.2:c.4781-60_4781-59insT	NP_001107854.1:n.4781-60_4781-59insT
NM_001318827.1:c.4541-60_4541-59insT	NP_001305756.1:n.4541-60_4541-59insT
NM_001318829.1:c.4505-60_4505-59insT	NP_001305758.1:n.4505-60_4505-59insT
NM_001318831.1:c.4118-60_4118-59insT	NP_001305760.1:n.4118-60_4118-59insT
NM_001318832.1:c.4682-60_4682-59insT	NP_001305761.1:n.4682-60_4682-59insT
NM_001363528.1:c.4652-60_4652-59insT	NP_001350457.1:n.4652-60_4652-59insT
NM_021055.2:c.4721-60_4721-59insT	NP_066399.2:n.4721-60_4721-59insT
XM_005255531.4:c.4652-60_4652-59insT	XP_005255588.2:n.4652-60_4652-59insT
XM_011522636.2:c.4904-60_4904-59insT	XP_011520938.1:n.4904-60_4904-59insT
XM_011522637.2:c.4901-60_4901-59insT	XP_011520939.1:n.4901-60_4901-59insT
XM_011522638.2:c.5066-60_5066-59insT	XP_011520940.2:n.5066-60_5066-59insT
XM_011522639.2:c.4775-60_4775-59insT	XP_011520941.1:n.4775-60_4775-59insT
XM_011522640.2:c.4772-60_4772-59insT	XP_011520942.1:n.4772-60_4772-59insT
XM_017023615.1:c.4847-60_4847-59insT	XP_016879104.1:n.4847-60_4847-59insT
XM_017023616.1:c.4718-60_4718-59insT	XP_016879105.1:n.4718-60_4718-59insT
XM_017023617.1:c.4814-60_4814-59insT	XP_016879106.1:n.4814-60_4814-59insT
XM_017023618.1:c.3560-60_3560-59insT	XP_016879107.1:n.3560-60_3560-59insT
XM_024450413.1:c.4649-60_4649-59insT	XP_024306181.1:n.4649-60_4649-59insT
NM_000548.5:c.4850-60_4850-59insT MANE Select	NP_000539.2:n.4850-60_4850-59insT
NM_001370404.1:c.4718-60_4718-59insT	NP_001357333.1:n.4718-60_4718-59insT
NM_001370405.1:c.4721-60_4721-59insT	NP_001357334.1:n.4721-60_4721-59insT
NM_001077183.3:c.4649-60_4649-59insT	NP_001070651.1:n.4649-60_4649-59insT
NM_001114382.3:c.4781-60_4781-59insT	NP_001107854.1:n.4781-60_4781-59insT
NM_001318827.2:c.4541-60_4541-59insT	NP_001305756.1:n.4541-60_4541-59insT
NM_001318829.2:c.4505-60_4505-59insT	NP_001305758.1:n.4505-60_4505-59insT
NM_001318831.2:c.4118-60_4118-59insT	NP_001305760.1:n.4118-60_4118-59insT
NM_001318832.2:c.4682-60_4682-59insT	NP_001305761.1:n.4682-60_4682-59insT
NM_001363528.2:c.4652-60_4652-59insT	NP_001350457.1:n.4652-60_4652-59insT
NM_021055.3:c.4721-60_4721-59insT	NP_066399.2:n.4721-60_4721-59insT