Canonical Allele Identifier: CA620705134

Gene: TSC2

Linked Data

• dbSNP Id: rs1158086247
• gnomAD v2: 16-2138525-ACT-A
• gnomAD v4: 16-2088524-ACT-A
• MyVariant Identifiers: chr16:g.2138526_2138527del (hg19) ; chr16:g.2088525_2088526del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088526_2088527del , CM000678.2:g.2088526_2088527del	GRCh38
NC_000016.9:g.2138527_2138528del , CM000678.1:g.2138527_2138528del	GRCh37
NC_000016.8:g.2078528_2078529del	NCBI36
NG_005895.1:g.44221_44222del , LRG_487:g.44221_44222del
NG_008617.1:g.54695_54696del

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*3689_*3690del	ENSP00000455997.2:n.*3689_*3690del
ENST00000642206.2:c.5187_5188del	ENSP00000495146.2:p.Pro1730SerfsTer8
ENST00000642365.2:c.5337_5338del	ENSP00000495459.2:p.Pro1780SerfsTer8
ENST00000644417.2:c.*5853_*5854del	ENSP00000493912.2:n.*5853_*5854del
ENST00000646464.2:c.*8089_*8090del	ENSP00000496610.2:n.*8089_*8090del
ENST00000219476.9:c.5340_5341del MANE Select	ENSP00000219476.3:p.Pro1781SerfsTer8
ENST00000350773.9:c.5271_5272del	ENSP00000344383.4:p.Pro1758SerfsTer8
ENST00000401874.7:c.5139_5140del	ENSP00000384468.2:p.Pro1714SerfsTer8
ENST00000568454.6:c.5172_5173del	ENSP00000454487.1:p.Pro1725SerfsTer8
ENST00000569110.2:c.1563_1564del
ENST00000569930.2:n.3222_3223del
ENST00000642365.1:c.3994_3995del
ENST00000642561.1:c.5199_5200del	ENSP00000495099.1:p.Pro1734SerfsTer8
ENST00000642791.1:n.937_938del
ENST00000642797.1:c.5142_5143del	ENSP00000493846.1:p.Pro1715SerfsTer8
ENST00000642936.1:c.5208_5209del	ENSP00000494514.1:p.Pro1737SerfsTer8
ENST00000643088.1:c.5133_5134del	ENSP00000494747.1:p.Pro1712SerfsTer8
ENST00000643426.1:n.2988_2989del
ENST00000643946.1:c.5265_5266del	ENSP00000495927.1:p.Pro1756SerfsTer8
ENST00000644043.1:c.5211_5212del	ENSP00000496262.1:p.Pro1738SerfsTer8
ENST00000644329.1:c.5226_5227del	ENSP00000496611.1:p.Pro1743SerfsTer8
ENST00000644335.1:c.5136_5137del	ENSP00000496317.1:p.Pro1713SerfsTer8
ENST00000644399.1:c.5261_5262del
ENST00000645024.1:n.3424_3425del
ENST00000646388.1:c.5334_5335del	ENSP00000495921.1:p.Pro1779SerfsTer8
ENST00000646634.1:n.4155_4156del
ENST00000646674.1:n.2592_2593del
ENST00000647042.1:n.2563_2564del
ENST00000647180.1:n.2453_2454del
ENST00000219476.7:c.5340_5341del	ENSP00000219476.3:p.Pro1781SerfsTer8
ENST00000350773.8:c.5271_5272del	ENSP00000344383.4:p.Pro1758SerfsTer8
ENST00000382538.10:c.4995_4996del	ENSP00000371978.6:p.Pro1666SerfsTer8
ENST00000401874.6:c.5139_5140del	ENSP00000384468.2:p.Pro1714SerfsTer8
ENST00000439117.6:c.*4507_*4508del	ENSP00000406980.2:n.*4507_*4508del
ENST00000439673.6:c.5031_5032del	ENSP00000399232.2:p.Pro1678SerfsTer8
ENST00000497886.5:n.3063_3064del
ENST00000568454.5:c.5172_5173del	ENSP00000454487.1:p.Pro1725SerfsTer8
ENST00000569110.1:c.1522_1523del
ENST00000569930.1:n.2455_2456del
NM_000548.3:c.5340_5341del , LRG_487t1:c.5340_5341del	NP_000539.2:p.Pro1781SerfsTer8
NM_001077183.1:c.5139_5140del	NP_001070651.1:p.Pro1714SerfsTer8
NM_001114382.1:c.5271_5272del	NP_001107854.1:p.Pro1758SerfsTer8
XM_005255529.3:c.5211_5212del	XP_005255586.2:p.Pro1738SerfsTer8
XM_005255531.3:c.5142_5143del	XP_005255588.2:p.Pro1715SerfsTer8
XM_011522636.1:c.5394_5395del	XP_011520938.1:p.Pro1799SerfsTer8
XM_011522637.1:c.5391_5392del	XP_011520939.1:p.Pro1798SerfsTer8
XM_011522638.1:c.5283_5284del	XP_011520940.1:p.Pro1762SerfsTer8
XM_011522639.1:c.5265_5266del	XP_011520941.1:p.Pro1756SerfsTer8
XM_011522640.1:c.5262_5263del	XP_011520942.1:p.Pro1755SerfsTer8
XM_011522641.1:c.5031_5032del	XP_011520943.1:p.Pro1678SerfsTer8
NM_000548.4:c.5340_5341del	NP_000539.2:p.Pro1781SerfsTer8
NM_001077183.2:c.5139_5140del	NP_001070651.1:p.Pro1714SerfsTer8
NM_001114382.2:c.5271_5272del	NP_001107854.1:p.Pro1758SerfsTer8
NM_001318827.1:c.5031_5032del	NP_001305756.1:p.Pro1678SerfsTer8
NM_001318829.1:c.4995_4996del	NP_001305758.1:p.Pro1666SerfsTer8
NM_001318831.1:c.4608_4609del	NP_001305760.1:p.Pro1537SerfsTer8
NM_001318832.1:c.5172_5173del	NP_001305761.1:p.Pro1725SerfsTer8
NM_001363528.1:c.5142_5143del	NP_001350457.1:p.Pro1715SerfsTer8
NM_021055.2:c.5211_5212del	NP_066399.2:p.Pro1738SerfsTer8
XM_005255531.4:c.5142_5143del	XP_005255588.2:p.Pro1715SerfsTer8
XM_011522636.2:c.5394_5395del	XP_011520938.1:p.Pro1799SerfsTer8
XM_011522637.2:c.5391_5392del	XP_011520939.1:p.Pro1798SerfsTer8
XM_011522638.2:c.5556_5557del	XP_011520940.2:p.Pro1853SerfsTer8
XM_011522639.2:c.5265_5266del	XP_011520941.1:p.Pro1756SerfsTer8
XM_011522640.2:c.5262_5263del	XP_011520942.1:p.Pro1755SerfsTer8
XM_017023615.1:c.5337_5338del	XP_016879104.1:p.Pro1780SerfsTer8
XM_017023616.1:c.5208_5209del	XP_016879105.1:p.Pro1737SerfsTer8
XM_017023617.1:c.5304_5305del	XP_016879106.1:p.Pro1769SerfsTer8
XM_017023618.1:c.4050_4051del	XP_016879107.1:p.Pro1351SerfsTer8
XM_024450413.1:c.5226_5227del	XP_024306181.1:p.Pro1743SerfsTer8
NM_000548.5:c.5340_5341del MANE Select	NP_000539.2:p.Pro1781SerfsTer8
NM_001370404.1:c.5208_5209del	NP_001357333.1:p.Pro1737SerfsTer8
NM_001370405.1:c.5199_5200del	NP_001357334.1:p.Pro1734SerfsTer8
NM_001077183.3:c.5139_5140del	NP_001070651.1:p.Pro1714SerfsTer8
NM_001114382.3:c.5271_5272del	NP_001107854.1:p.Pro1758SerfsTer8
NM_001318827.2:c.5031_5032del	NP_001305756.1:p.Pro1678SerfsTer8
NM_001318829.2:c.4995_4996del	NP_001305758.1:p.Pro1666SerfsTer8
NM_001318831.2:c.4608_4609del	NP_001305760.1:p.Pro1537SerfsTer8
NM_001318832.2:c.5172_5173del	NP_001305761.1:p.Pro1725SerfsTer8
NM_001363528.2:c.5142_5143del	NP_001350457.1:p.Pro1715SerfsTer8
NM_021055.3:c.5211_5212del	NP_066399.2:p.Pro1738SerfsTer8