Canonical Allele Identifier: CA2695221750

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088231_2088232del , CM000678.2:g.2088231_2088232del	GRCh38
NC_000016.9:g.2138232_2138233del , CM000678.1:g.2138232_2138233del	GRCh37
NC_000016.8:g.2078233_2078234del	NCBI36
NG_005895.1:g.43926_43927del , LRG_487:g.43926_43927del
NG_008617.1:g.54989_54990del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3514_*3515del	ENSP00000455997.2:n.*3514_*3515del
ENST00000642206.2:c.5012_5013del	ENSP00000495146.2:p.Ala1671ValfsTer6
ENST00000642365.2:c.5162_5163del	ENSP00000495459.2:p.Ala1721ValfsTer6
ENST00000644417.2:c.*5678_*5679del	ENSP00000493912.2:n.*5678_*5679del
ENST00000646464.2:c.*7914_*7915del	ENSP00000496610.2:n.*7914_*7915del
ENST00000219476.9:c.5165_5166del MANE Select	ENSP00000219476.3:p.Ala1722ValfsTer6
ENST00000350773.9:c.5096_5097del	ENSP00000344383.4:p.Ala1699ValfsTer6
ENST00000401874.7:c.4964_4965del	ENSP00000384468.2:p.Ala1655ValfsTer6
ENST00000568454.6:c.4997_4998del	ENSP00000454487.1:p.Ala1666ValfsTer6
ENST00000569110.2:c.1388_1389del
ENST00000569930.2:n.3047_3048del
ENST00000642365.1:c.3819_3820del
ENST00000642561.1:c.5032-8_5032-7del	ENSP00000495099.1:n.5032-8_5032-7del
ENST00000642791.1:n.762_763del
ENST00000642797.1:c.4967_4968del	ENSP00000493846.1:p.Ala1656ValfsTer6
ENST00000642936.1:c.5033_5034del	ENSP00000494514.1:p.Ala1678ValfsTer6
ENST00000643088.1:c.4958_4959del	ENSP00000494747.1:p.Ala1653ValfsTer6
ENST00000643426.1:n.2813_2814del
ENST00000643946.1:c.5090_5091del	ENSP00000495927.1:p.Ala1697ValfsTer6
ENST00000644043.1:c.5036_5037del	ENSP00000496262.1:p.Ala1679ValfsTer6
ENST00000644329.1:c.5051_5052del	ENSP00000496611.1:p.Ala1684ValfsTer6
ENST00000644335.1:c.4961_4962del	ENSP00000496317.1:p.Ala1654ValfsTer6
ENST00000644399.1:c.5086_5087del
ENST00000645024.1:n.3249_3250del
ENST00000646388.1:c.5159_5160del	ENSP00000495921.1:p.Ala1720ValfsTer6
ENST00000646634.1:n.3980_3981del
ENST00000646674.1:n.2417_2418del
ENST00000647042.1:n.2388_2389del
ENST00000647180.1:n.2278_2279del
ENST00000219476.7:c.5165_5166del	ENSP00000219476.3:p.Ala1722ValfsTer6
ENST00000350773.8:c.5096_5097del	ENSP00000344383.4:p.Ala1699ValfsTer6
ENST00000382538.10:c.4820_4821del	ENSP00000371978.6:p.Ala1607ValfsTer6
ENST00000401874.6:c.4964_4965del	ENSP00000384468.2:p.Ala1655ValfsTer6
ENST00000439117.6:c.*4332_*4333del	ENSP00000406980.2:n.*4332_*4333del
ENST00000439673.6:c.4856_4857del	ENSP00000399232.2:p.Ala1619ValfsTer6
ENST00000497886.5:n.2888_2889del
ENST00000568454.5:c.4997_4998del	ENSP00000454487.1:p.Ala1666ValfsTer6
ENST00000569110.1:c.1347_1348del
ENST00000569930.1:n.2280_2281del
NM_000548.3:c.5165_5166del , LRG_487t1:c.5165_5166del	NP_000539.2:p.Ala1722ValfsTer6
NM_001077183.1:c.4964_4965del	NP_001070651.1:p.Ala1655ValfsTer6
NM_001114382.1:c.5096_5097del	NP_001107854.1:p.Ala1699ValfsTer6
XM_005255529.3:c.5036_5037del	XP_005255586.2:p.Ala1679ValfsTer6
XM_005255531.3:c.4967_4968del	XP_005255588.2:p.Ala1656ValfsTer6
XM_011522636.1:c.5219_5220del	XP_011520938.1:p.Ala1740ValfsTer6
XM_011522637.1:c.5216_5217del	XP_011520939.1:p.Ala1739ValfsTer6
XM_011522638.1:c.5108_5109del	XP_011520940.1:p.Ala1703ValfsTer6
XM_011522639.1:c.5090_5091del	XP_011520941.1:p.Ala1697ValfsTer6
XM_011522640.1:c.5087_5088del	XP_011520942.1:p.Ala1696ValfsTer6
XM_011522641.1:c.4856_4857del	XP_011520943.1:p.Ala1619ValfsTer6
NM_000548.4:c.5165_5166del	NP_000539.2:p.Ala1722ValfsTer6
NM_001077183.2:c.4964_4965del	NP_001070651.1:p.Ala1655ValfsTer6
NM_001114382.2:c.5096_5097del	NP_001107854.1:p.Ala1699ValfsTer6
NM_001318827.1:c.4856_4857del	NP_001305756.1:p.Ala1619ValfsTer6
NM_001318829.1:c.4820_4821del	NP_001305758.1:p.Ala1607ValfsTer6
NM_001318831.1:c.4433_4434del	NP_001305760.1:p.Ala1478ValfsTer6
NM_001318832.1:c.4997_4998del	NP_001305761.1:p.Ala1666ValfsTer6
NM_001363528.1:c.4967_4968del	NP_001350457.1:p.Ala1656ValfsTer6
NM_021055.2:c.5036_5037del	NP_066399.2:p.Ala1679ValfsTer6
XM_005255531.4:c.4967_4968del	XP_005255588.2:p.Ala1656ValfsTer6
XM_011522636.2:c.5219_5220del	XP_011520938.1:p.Ala1740ValfsTer6
XM_011522637.2:c.5216_5217del	XP_011520939.1:p.Ala1739ValfsTer6
XM_011522638.2:c.5381_5382del	XP_011520940.2:p.Ala1794ValfsTer6
XM_011522639.2:c.5090_5091del	XP_011520941.1:p.Ala1697ValfsTer6
XM_011522640.2:c.5087_5088del	XP_011520942.1:p.Ala1696ValfsTer6
XM_017023615.1:c.5162_5163del	XP_016879104.1:p.Ala1721ValfsTer6
XM_017023616.1:c.5033_5034del	XP_016879105.1:p.Ala1678ValfsTer6
XM_017023617.1:c.5129_5130del	XP_016879106.1:p.Ala1710ValfsTer6
XM_017023618.1:c.3875_3876del	XP_016879107.1:p.Ala1292ValfsTer6
XM_024450413.1:c.5051_5052del	XP_024306181.1:p.Ala1684ValfsTer6
NM_000548.5:c.5165_5166del MANE Select	NP_000539.2:p.Ala1722ValfsTer6
NM_001370404.1:c.5033_5034del	NP_001357333.1:p.Ala1678ValfsTer6
NM_001370405.1:c.5032-8_5032-7del	NP_001357334.1:n.5032-8_5032-7del
NM_001077183.3:c.4964_4965del	NP_001070651.1:p.Ala1655ValfsTer6
NM_001114382.3:c.5096_5097del	NP_001107854.1:p.Ala1699ValfsTer6
NM_001318827.2:c.4856_4857del	NP_001305756.1:p.Ala1619ValfsTer6
NM_001318829.2:c.4820_4821del	NP_001305758.1:p.Ala1607ValfsTer6
NM_001318831.2:c.4433_4434del	NP_001305760.1:p.Ala1478ValfsTer6
NM_001318832.2:c.4997_4998del	NP_001305761.1:p.Ala1666ValfsTer6
NM_001363528.2:c.4967_4968del	NP_001350457.1:p.Ala1656ValfsTer6
NM_021055.3:c.5036_5037del	NP_066399.2:p.Ala1679ValfsTer6