Canonical Allele Identifier: CA913184879

Gene: TSC2

Linked Data

• ClinVar Variation Id: 1452749
• ClinVar RCV Id: RCV001999964
• dbSNP Id: rs2151631183

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088292_2088309del , CM000678.2:g.2088292_2088309del	GRCh38
NC_000016.9:g.2138293_2138310del , CM000678.1:g.2138293_2138310del	GRCh37
NC_000016.8:g.2078294_2078311del	NCBI36
NG_005895.1:g.43987_44004del , LRG_487:g.43987_44004del
NG_008617.1:g.54912_54929del

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*3575_*3592del	ENSP00000455997.2:n.*3575_*3592del
ENST00000642206.2:c.5073_5090del	ENSP00000495146.2:p.Arg1692_Lys1697del
ENST00000642365.2:c.5223_5240del	ENSP00000495459.2:p.Arg1742_Lys1747del
ENST00000644417.2:c.*5739_*5756del	ENSP00000493912.2:n.*5739_*5756del
ENST00000646464.2:c.*7975_*7992del	ENSP00000496610.2:n.*7975_*7992del
ENST00000219476.9:c.5226_5243del MANE Select	ENSP00000219476.3:p.Arg1743_Lys1748del
ENST00000350773.9:c.5157_5174del	ENSP00000344383.4:p.Arg1720_Lys1725del
ENST00000401874.7:c.5025_5042del	ENSP00000384468.2:p.Arg1676_Lys1681del
ENST00000568454.6:c.5058_5075del	ENSP00000454487.1:p.Arg1687_Lys1692del
ENST00000569110.2:c.1449_1466del
ENST00000569930.2:n.3108_3125del
ENST00000642365.1:c.3880_3897del
ENST00000642561.1:c.5085_5102del	ENSP00000495099.1:p.Arg1696_Lys1701del
ENST00000642791.1:n.823_840del
ENST00000642797.1:c.5028_5045del	ENSP00000493846.1:p.Arg1677_Lys1682del
ENST00000642936.1:c.5094_5111del	ENSP00000494514.1:p.Arg1699_Lys1704del
ENST00000643088.1:c.5019_5036del	ENSP00000494747.1:p.Arg1674_Lys1679del
ENST00000643426.1:n.2874_2891del
ENST00000643946.1:c.5151_5168del	ENSP00000495927.1:p.Arg1718_Lys1723del
ENST00000644043.1:c.5097_5114del	ENSP00000496262.1:p.Arg1700_Lys1705del
ENST00000644329.1:c.5112_5129del	ENSP00000496611.1:p.Arg1705_Lys1710del
ENST00000644335.1:c.5022_5039del	ENSP00000496317.1:p.Arg1675_Lys1680del
ENST00000644399.1:c.5147_5164del
ENST00000645024.1:n.3310_3327del
ENST00000646388.1:c.5220_5237del	ENSP00000495921.1:p.Arg1741_Lys1746del
ENST00000646634.1:n.4041_4058del
ENST00000646674.1:n.2478_2495del
ENST00000647042.1:n.2449_2466del
ENST00000647180.1:n.2339_2356del
ENST00000219476.7:c.5226_5243del	ENSP00000219476.3:p.Arg1743_Lys1748del
ENST00000350773.8:c.5157_5174del	ENSP00000344383.4:p.Arg1720_Lys1725del
ENST00000382538.10:c.4881_4898del	ENSP00000371978.6:p.Arg1628_Lys1633del
ENST00000401874.6:c.5025_5042del	ENSP00000384468.2:p.Arg1676_Lys1681del
ENST00000439117.6:c.*4393_*4410del	ENSP00000406980.2:n.*4393_*4410del
ENST00000439673.6:c.4917_4934del	ENSP00000399232.2:p.Arg1640_Lys1645del
ENST00000497886.5:n.2949_2966del
ENST00000568454.5:c.5058_5075del	ENSP00000454487.1:p.Arg1687_Lys1692del
ENST00000569110.1:c.1408_1425del
ENST00000569930.1:n.2341_2358del
NM_000548.3:c.5226_5243del , LRG_487t1:c.5226_5243del	NP_000539.2:p.Arg1743_Lys1748del
NM_001077183.1:c.5025_5042del	NP_001070651.1:p.Arg1676_Lys1681del
NM_001114382.1:c.5157_5174del	NP_001107854.1:p.Arg1720_Lys1725del
XM_005255529.3:c.5097_5114del	XP_005255586.2:p.Arg1700_Lys1705del
XM_005255531.3:c.5028_5045del	XP_005255588.2:p.Arg1677_Lys1682del
XM_011522636.1:c.5280_5297del	XP_011520938.1:p.Arg1761_Lys1766del
XM_011522637.1:c.5277_5294del	XP_011520939.1:p.Arg1760_Lys1765del
XM_011522638.1:c.5169_5186del	XP_011520940.1:p.Arg1724_Lys1729del
XM_011522639.1:c.5151_5168del	XP_011520941.1:p.Arg1718_Lys1723del
XM_011522640.1:c.5148_5165del	XP_011520942.1:p.Arg1717_Lys1722del
XM_011522641.1:c.4917_4934del	XP_011520943.1:p.Arg1640_Lys1645del
NM_000548.4:c.5226_5243del	NP_000539.2:p.Arg1743_Lys1748del
NM_001077183.2:c.5025_5042del	NP_001070651.1:p.Arg1676_Lys1681del
NM_001114382.2:c.5157_5174del	NP_001107854.1:p.Arg1720_Lys1725del
NM_001318827.1:c.4917_4934del	NP_001305756.1:p.Arg1640_Lys1645del
NM_001318829.1:c.4881_4898del	NP_001305758.1:p.Arg1628_Lys1633del
NM_001318831.1:c.4494_4511del	NP_001305760.1:p.Arg1499_Lys1504del
NM_001318832.1:c.5058_5075del	NP_001305761.1:p.Arg1687_Lys1692del
NM_001363528.1:c.5028_5045del	NP_001350457.1:p.Arg1677_Lys1682del
NM_021055.2:c.5097_5114del	NP_066399.2:p.Arg1700_Lys1705del
XM_005255531.4:c.5028_5045del	XP_005255588.2:p.Arg1677_Lys1682del
XM_011522636.2:c.5280_5297del	XP_011520938.1:p.Arg1761_Lys1766del
XM_011522637.2:c.5277_5294del	XP_011520939.1:p.Arg1760_Lys1765del
XM_011522638.2:c.5442_5459del	XP_011520940.2:p.Arg1815_Lys1820del
XM_011522639.2:c.5151_5168del	XP_011520941.1:p.Arg1718_Lys1723del
XM_011522640.2:c.5148_5165del	XP_011520942.1:p.Arg1717_Lys1722del
XM_017023615.1:c.5223_5240del	XP_016879104.1:p.Arg1742_Lys1747del
XM_017023616.1:c.5094_5111del	XP_016879105.1:p.Arg1699_Lys1704del
XM_017023617.1:c.5190_5207del	XP_016879106.1:p.Arg1731_Lys1736del
XM_017023618.1:c.3936_3953del	XP_016879107.1:p.Arg1313_Lys1318del
XM_024450413.1:c.5112_5129del	XP_024306181.1:p.Arg1705_Lys1710del
NM_000548.5:c.5226_5243del MANE Select	NP_000539.2:p.Arg1743_Lys1748del
NM_001370404.1:c.5094_5111del	NP_001357333.1:p.Arg1699_Lys1704del
NM_001370405.1:c.5085_5102del	NP_001357334.1:p.Arg1696_Lys1701del
NM_001077183.3:c.5025_5042del	NP_001070651.1:p.Arg1676_Lys1681del
NM_001114382.3:c.5157_5174del	NP_001107854.1:p.Arg1720_Lys1725del
NM_001318827.2:c.4917_4934del	NP_001305756.1:p.Arg1640_Lys1645del
NM_001318829.2:c.4881_4898del	NP_001305758.1:p.Arg1628_Lys1633del
NM_001318831.2:c.4494_4511del	NP_001305760.1:p.Arg1499_Lys1504del
NM_001318832.2:c.5058_5075del	NP_001305761.1:p.Arg1687_Lys1692del
NM_001363528.2:c.5028_5045del	NP_001350457.1:p.Arg1677_Lys1682del
NM_021055.3:c.5097_5114del	NP_066399.2:p.Arg1700_Lys1705del