Canonical Allele Identifier: CA620705135

Gene: TSC2

Linked Data

• gnomAD v2: 16-2138530-AG-A
• gnomAD v4: 16-2088529-AG-A
• MyVariant Identifiers: chr16:g.2138531del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088530del , CM000678.2:g.2088530del	GRCh38
NC_000016.9:g.2138531del , CM000678.1:g.2138531del	GRCh37
NC_000016.8:g.2078532del	NCBI36
NG_005895.1:g.44225del , LRG_487:g.44225del
NG_008617.1:g.54691del

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*3693del	ENSP00000455997.2:n.*3693del
ENST00000642206.2:c.5191del	ENSP00000495146.2:p.Ala1731ProfsTer?
ENST00000642365.2:c.5341del	ENSP00000495459.2:p.Ala1781ProfsTer?
ENST00000644417.2:c.*5857del	ENSP00000493912.2:n.*5857del
ENST00000646464.2:c.*8093del	ENSP00000496610.2:n.*8093del
ENST00000219476.9:c.5344del MANE Select	ENSP00000219476.3:p.Ala1782ProfsTer?
ENST00000350773.9:c.5275del	ENSP00000344383.4:p.Ala1759ProfsTer?
ENST00000401874.7:c.5143del	ENSP00000384468.2:p.Ala1715ProfsTer?
ENST00000568454.6:c.5176del	ENSP00000454487.1:p.Ala1726ProfsTer?
ENST00000569110.2:c.1567del
ENST00000569930.2:n.3226del
ENST00000642365.1:c.3998del
ENST00000642561.1:c.5203del	ENSP00000495099.1:p.Ala1735ProfsTer?
ENST00000642791.1:n.941del
ENST00000642797.1:c.5146del	ENSP00000493846.1:p.Ala1716ProfsTer?
ENST00000642936.1:c.5212del	ENSP00000494514.1:p.Ala1738ProfsTer?
ENST00000643088.1:c.5137del	ENSP00000494747.1:p.Ala1713ProfsTer?
ENST00000643426.1:n.2992del
ENST00000643946.1:c.5269del	ENSP00000495927.1:p.Ala1757ProfsTer?
ENST00000644043.1:c.5215del	ENSP00000496262.1:p.Ala1739ProfsTer?
ENST00000644329.1:c.5230del	ENSP00000496611.1:p.Ala1744ProfsTer?
ENST00000644335.1:c.5140del	ENSP00000496317.1:p.Ala1714ProfsTer?
ENST00000644399.1:c.5265del
ENST00000645024.1:n.3428del
ENST00000646388.1:c.5338del	ENSP00000495921.1:p.Ala1780ProfsTer?
ENST00000646634.1:n.4159del
ENST00000646674.1:n.2596del
ENST00000647042.1:n.2567del
ENST00000647180.1:n.2457del
ENST00000219476.7:c.5344del	ENSP00000219476.3:p.Ala1782ProfsTer?
ENST00000350773.8:c.5275del	ENSP00000344383.4:p.Ala1759ProfsTer?
ENST00000382538.10:c.4999del	ENSP00000371978.6:p.Ala1667ProfsTer?
ENST00000401874.6:c.5143del	ENSP00000384468.2:p.Ala1715ProfsTer?
ENST00000439117.6:c.*4511del	ENSP00000406980.2:n.*4511del
ENST00000439673.6:c.5035del	ENSP00000399232.2:p.Ala1679ProfsTer?
ENST00000497886.5:n.3067del
ENST00000568454.5:c.5176del	ENSP00000454487.1:p.Ala1726ProfsTer?
ENST00000569110.1:c.1526del
ENST00000569930.1:n.2459del
NM_000548.3:c.5344del , LRG_487t1:c.5344del	NP_000539.2:p.Ala1782ProfsTer?
NM_001077183.1:c.5143del	NP_001070651.1:p.Ala1715ProfsTer?
NM_001114382.1:c.5275del	NP_001107854.1:p.Ala1759ProfsTer?
XM_005255529.3:c.5215del	XP_005255586.2:p.Ala1739ProfsTer?
XM_005255531.3:c.5146del	XP_005255588.2:p.Ala1716ProfsTer?
XM_011522636.1:c.5398del	XP_011520938.1:p.Ala1800ProfsTer?
XM_011522637.1:c.5395del	XP_011520939.1:p.Ala1799ProfsTer?
XM_011522638.1:c.5287del	XP_011520940.1:p.Ala1763ProfsTer?
XM_011522639.1:c.5269del	XP_011520941.1:p.Ala1757ProfsTer?
XM_011522640.1:c.5266del	XP_011520942.1:p.Ala1756ProfsTer?
XM_011522641.1:c.5035del	XP_011520943.1:p.Ala1679ProfsTer?
NM_000548.4:c.5344del	NP_000539.2:p.Ala1782ProfsTer?
NM_001077183.2:c.5143del	NP_001070651.1:p.Ala1715ProfsTer?
NM_001114382.2:c.5275del	NP_001107854.1:p.Ala1759ProfsTer?
NM_001318827.1:c.5035del	NP_001305756.1:p.Ala1679ProfsTer?
NM_001318829.1:c.4999del	NP_001305758.1:p.Ala1667ProfsTer?
NM_001318831.1:c.4612del	NP_001305760.1:p.Ala1538ProfsTer?
NM_001318832.1:c.5176del	NP_001305761.1:p.Ala1726ProfsTer?
NM_001363528.1:c.5146del	NP_001350457.1:p.Ala1716ProfsTer?
NM_021055.2:c.5215del	NP_066399.2:p.Ala1739ProfsTer?
XM_005255531.4:c.5146del	XP_005255588.2:p.Ala1716ProfsTer?
XM_011522636.2:c.5398del	XP_011520938.1:p.Ala1800ProfsTer?
XM_011522637.2:c.5395del	XP_011520939.1:p.Ala1799ProfsTer?
XM_011522638.2:c.5560del	XP_011520940.2:p.Ala1854ProfsTer?
XM_011522639.2:c.5269del	XP_011520941.1:p.Ala1757ProfsTer?
XM_011522640.2:c.5266del	XP_011520942.1:p.Ala1756ProfsTer?
XM_017023615.1:c.5341del	XP_016879104.1:p.Ala1781ProfsTer?
XM_017023616.1:c.5212del	XP_016879105.1:p.Ala1738ProfsTer?
XM_017023617.1:c.5308del	XP_016879106.1:p.Ala1770ProfsTer?
XM_017023618.1:c.4054del	XP_016879107.1:p.Ala1352ProfsTer?
XM_024450413.1:c.5230del	XP_024306181.1:p.Ala1744ProfsTer?
NM_000548.5:c.5344del MANE Select	NP_000539.2:p.Ala1782ProfsTer?
NM_001370404.1:c.5212del	NP_001357333.1:p.Ala1738ProfsTer?
NM_001370405.1:c.5203del	NP_001357334.1:p.Ala1735ProfsTer?
NM_001077183.3:c.5143del	NP_001070651.1:p.Ala1715ProfsTer?
NM_001114382.3:c.5275del	NP_001107854.1:p.Ala1759ProfsTer?
NM_001318827.2:c.5035del	NP_001305756.1:p.Ala1679ProfsTer?
NM_001318829.2:c.4999del	NP_001305758.1:p.Ala1667ProfsTer?
NM_001318831.2:c.4612del	NP_001305760.1:p.Ala1538ProfsTer?
NM_001318832.2:c.5176del	NP_001305761.1:p.Ala1726ProfsTer?
NM_001363528.2:c.5146del	NP_001350457.1:p.Ala1716ProfsTer?
NM_021055.3:c.5215del	NP_066399.2:p.Ala1739ProfsTer?