Canonical Allele Identifier: CA620705074

Gene: TSC2

Linked Data

• ClinVar Variation Id: 2793074
• ClinVar RCV Id: RCV003627589
• gnomAD v2: 16-2137951-G-GGGTGGGGCCCTGCAGTGCAGGAAA
• gnomAD v4: 16-2087950-G-GGGTGGGGCCCTGCAGTGCAGGAAA
• MyVariant Identifiers: chr16:g.2137951_2137952insGGTGGGGCCCTGCAGTGCAGGAAA (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2087954_2087977dup , CM000678.2:g.2087954_2087977dup	GRCh38
NC_000016.9:g.2137955_2137978dup , CM000678.1:g.2137955_2137978dup	GRCh37
NC_000016.8:g.2077956_2077979dup	NCBI36
NG_005895.1:g.43649_43672dup , LRG_487:g.43649_43672dup
NG_008617.1:g.55247_55270dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*3417+13_*3417+36dup	ENSP00000455997.2:n.*3417+13_*3417+36dup
ENST00000642206.2:c.4915+13_4915+36dup	ENSP00000495146.2:n.4915+13_4915+36dup
ENST00000642365.2:c.5065+13_5065+36dup	ENSP00000495459.2:n.5065+13_5065+36dup
ENST00000644417.2:c.*5581+13_*5581+36dup	ENSP00000493912.2:n.*5581+13_*5581+36dup
ENST00000646464.2:c.*7817+13_*7817+36dup	ENSP00000496610.2:n.*7817+13_*7817+36dup
ENST00000219476.9:c.5068+13_5068+36dup MANE Select	ENSP00000219476.3:n.5068+13_5068+36dup
ENST00000350773.9:c.4999+13_4999+36dup	ENSP00000344383.4:n.4999+13_4999+36dup
ENST00000401874.7:c.4867+13_4867+36dup	ENSP00000384468.2:n.4867+13_4867+36dup
ENST00000568454.6:c.4900+13_4900+36dup	ENSP00000454487.1:n.4900+13_4900+36dup
ENST00000569110.2:c.1291+13_1291+36dup
ENST00000569930.2:n.2950+13_2950+36dup
ENST00000642365.1:c.3722+13_3722+36dup
ENST00000642561.1:c.4939+13_4939+36dup	ENSP00000495099.1:n.4939+13_4939+36dup
ENST00000642791.1:n.665+13_665+36dup
ENST00000642797.1:c.4870+13_4870+36dup	ENSP00000493846.1:n.4870+13_4870+36dup
ENST00000642936.1:c.4936+13_4936+36dup	ENSP00000494514.1:n.4936+13_4936+36dup
ENST00000643088.1:c.4861+13_4861+36dup	ENSP00000494747.1:n.4861+13_4861+36dup
ENST00000643177.1:n.1095_1118dup
ENST00000643426.1:n.2716+13_2716+36dup
ENST00000643946.1:c.4993+13_4993+36dup	ENSP00000495927.1:n.4993+13_4993+36dup
ENST00000644043.1:c.4939+13_4939+36dup	ENSP00000496262.1:n.4939+13_4939+36dup
ENST00000644278.1:n.563_586dup
ENST00000644329.1:c.4867+13_4867+36dup	ENSP00000496611.1:n.4867+13_4867+36dup
ENST00000644335.1:c.4864+13_4864+36dup	ENSP00000496317.1:n.4864+13_4864+36dup
ENST00000644399.1:c.4989+13_4989+36dup
ENST00000645024.1:n.3152+13_3152+36dup
ENST00000646388.1:c.5062+13_5062+36dup	ENSP00000495921.1:n.5062+13_5062+36dup
ENST00000646634.1:n.3883+13_3883+36dup
ENST00000646674.1:n.2320+13_2320+36dup
ENST00000647042.1:n.2291+13_2291+36dup
ENST00000647180.1:n.2181+13_2181+36dup
ENST00000219476.7:c.5068+13_5068+36dup	ENSP00000219476.3:n.5068+13_5068+36dup
ENST00000350773.8:c.4999+13_4999+36dup	ENSP00000344383.4:n.4999+13_4999+36dup
ENST00000382538.10:c.4723+13_4723+36dup	ENSP00000371978.6:n.4723+13_4723+36dup
ENST00000401874.6:c.4867+13_4867+36dup	ENSP00000384468.2:n.4867+13_4867+36dup
ENST00000439117.6:c.*4235+13_*4235+36dup	ENSP00000406980.2:n.*4235+13_*4235+36dup
ENST00000439673.6:c.4759+13_4759+36dup	ENSP00000399232.2:n.4759+13_4759+36dup
ENST00000497886.5:n.2791+13_2791+36dup
ENST00000568454.5:c.4900+13_4900+36dup	ENSP00000454487.1:n.4900+13_4900+36dup
ENST00000569110.1:c.1250+13_1250+36dup
ENST00000569930.1:n.2183+13_2183+36dup
NM_000548.3:c.5068+13_5068+36dup , LRG_487t1:c.5068+13_5068+36dup	NP_000539.2:n.5068+13_5068+36dup
NM_001077183.1:c.4867+13_4867+36dup	NP_001070651.1:n.4867+13_4867+36dup
NM_001114382.1:c.4999+13_4999+36dup	NP_001107854.1:n.4999+13_4999+36dup
XM_005255529.3:c.4939+13_4939+36dup	XP_005255586.2:n.4939+13_4939+36dup
XM_005255531.3:c.4870+13_4870+36dup	XP_005255588.2:n.4870+13_4870+36dup
XM_011522636.1:c.5122+13_5122+36dup	XP_011520938.1:n.5122+13_5122+36dup
XM_011522637.1:c.5119+13_5119+36dup	XP_011520939.1:n.5119+13_5119+36dup
XM_011522638.1:c.5011+13_5011+36dup	XP_011520940.1:n.5011+13_5011+36dup
XM_011522639.1:c.4993+13_4993+36dup	XP_011520941.1:n.4993+13_4993+36dup
XM_011522640.1:c.4990+13_4990+36dup	XP_011520942.1:n.4990+13_4990+36dup
XM_011522641.1:c.4759+13_4759+36dup	XP_011520943.1:n.4759+13_4759+36dup
NM_000548.4:c.5068+13_5068+36dup	NP_000539.2:n.5068+13_5068+36dup
NM_001077183.2:c.4867+13_4867+36dup	NP_001070651.1:n.4867+13_4867+36dup
NM_001114382.2:c.4999+13_4999+36dup	NP_001107854.1:n.4999+13_4999+36dup
NM_001318827.1:c.4759+13_4759+36dup	NP_001305756.1:n.4759+13_4759+36dup
NM_001318829.1:c.4723+13_4723+36dup	NP_001305758.1:n.4723+13_4723+36dup
NM_001318831.1:c.4336+13_4336+36dup	NP_001305760.1:n.4336+13_4336+36dup
NM_001318832.1:c.4900+13_4900+36dup	NP_001305761.1:n.4900+13_4900+36dup
NM_001363528.1:c.4870+13_4870+36dup	NP_001350457.1:n.4870+13_4870+36dup
NM_021055.2:c.4939+13_4939+36dup	NP_066399.2:n.4939+13_4939+36dup
XM_005255531.4:c.4870+13_4870+36dup	XP_005255588.2:n.4870+13_4870+36dup
XM_011522636.2:c.5122+13_5122+36dup	XP_011520938.1:n.5122+13_5122+36dup
XM_011522637.2:c.5119+13_5119+36dup	XP_011520939.1:n.5119+13_5119+36dup
XM_011522638.2:c.5284+13_5284+36dup	XP_011520940.2:n.5284+13_5284+36dup
XM_011522639.2:c.4993+13_4993+36dup	XP_011520941.1:n.4993+13_4993+36dup
XM_011522640.2:c.4990+13_4990+36dup	XP_011520942.1:n.4990+13_4990+36dup
XM_017023615.1:c.5065+13_5065+36dup	XP_016879104.1:n.5065+13_5065+36dup
XM_017023616.1:c.4936+13_4936+36dup	XP_016879105.1:n.4936+13_4936+36dup
XM_017023617.1:c.5032+13_5032+36dup	XP_016879106.1:n.5032+13_5032+36dup
XM_017023618.1:c.3778+13_3778+36dup	XP_016879107.1:n.3778+13_3778+36dup
XM_024450413.1:c.4867+13_4867+36dup	XP_024306181.1:n.4867+13_4867+36dup
NM_000548.5:c.5068+13_5068+36dup MANE Select	NP_000539.2:n.5068+13_5068+36dup
NM_001370404.1:c.4936+13_4936+36dup	NP_001357333.1:n.4936+13_4936+36dup
NM_001370405.1:c.4939+13_4939+36dup	NP_001357334.1:n.4939+13_4939+36dup
NM_001077183.3:c.4867+13_4867+36dup	NP_001070651.1:n.4867+13_4867+36dup
NM_001114382.3:c.4999+13_4999+36dup	NP_001107854.1:n.4999+13_4999+36dup
NM_001318827.2:c.4759+13_4759+36dup	NP_001305756.1:n.4759+13_4759+36dup
NM_001318829.2:c.4723+13_4723+36dup	NP_001305758.1:n.4723+13_4723+36dup
NM_001318831.2:c.4336+13_4336+36dup	NP_001305760.1:n.4336+13_4336+36dup
NM_001318832.2:c.4900+13_4900+36dup	NP_001305761.1:n.4900+13_4900+36dup
NM_001363528.2:c.4870+13_4870+36dup	NP_001350457.1:n.4870+13_4870+36dup
NM_021055.3:c.4939+13_4939+36dup	NP_066399.2:n.4939+13_4939+36dup