Canonical Allele Identifier: CA2695221755

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088273_2088290del , CM000678.2:g.2088273_2088290del	GRCh38
NC_000016.9:g.2138274_2138291del , CM000678.1:g.2138274_2138291del	GRCh37
NC_000016.8:g.2078275_2078292del	NCBI36
NG_005895.1:g.43968_43985del , LRG_487:g.43968_43985del
NG_008617.1:g.54931_54948del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3556_*3573del	ENSP00000455997.2:n.*3556_*3573del
ENST00000642206.2:c.5054_5071del	ENSP00000495146.2:p.Tyr1685_Ala1691delinsSer
ENST00000642365.2:c.5204_5221del	ENSP00000495459.2:p.Tyr1735_Ala1741delinsSer
ENST00000644417.2:c.*5720_*5737del	ENSP00000493912.2:n.*5720_*5737del
ENST00000646464.2:c.*7956_*7973del	ENSP00000496610.2:n.*7956_*7973del
ENST00000219476.9:c.5207_5224del MANE Select	ENSP00000219476.3:p.Tyr1736_Ala1742delinsSer
ENST00000350773.9:c.5138_5155del	ENSP00000344383.4:p.Tyr1713_Ala1719delinsSer
ENST00000401874.7:c.5006_5023del	ENSP00000384468.2:p.Tyr1669_Ala1675delinsSer
ENST00000568454.6:c.5039_5056del	ENSP00000454487.1:p.Tyr1680_Ala1686delinsSer
ENST00000569110.2:c.1430_1447del
ENST00000569930.2:n.3089_3106del
ENST00000642365.1:c.3861_3878del
ENST00000642561.1:c.5066_5083del	ENSP00000495099.1:p.Tyr1689_Ala1695delinsSer
ENST00000642791.1:n.804_821del
ENST00000642797.1:c.5009_5026del	ENSP00000493846.1:p.Tyr1670_Ala1676delinsSer
ENST00000642936.1:c.5075_5092del	ENSP00000494514.1:p.Tyr1692_Ala1698delinsSer
ENST00000643088.1:c.5000_5017del	ENSP00000494747.1:p.Tyr1667_Ala1673delinsSer
ENST00000643426.1:n.2855_2872del
ENST00000643946.1:c.5132_5149del	ENSP00000495927.1:p.Tyr1711_Ala1717delinsSer
ENST00000644043.1:c.5078_5095del	ENSP00000496262.1:p.Tyr1693_Ala1699delinsSer
ENST00000644329.1:c.5093_5110del	ENSP00000496611.1:p.Tyr1698_Ala1704delinsSer
ENST00000644335.1:c.5003_5020del	ENSP00000496317.1:p.Tyr1668_Ala1674delinsSer
ENST00000644399.1:c.5128_5145del
ENST00000645024.1:n.3291_3308del
ENST00000646388.1:c.5201_5218del	ENSP00000495921.1:p.Tyr1734_Ala1740delinsSer
ENST00000646634.1:n.4022_4039del
ENST00000646674.1:n.2459_2476del
ENST00000647042.1:n.2430_2447del
ENST00000647180.1:n.2320_2337del
ENST00000219476.7:c.5207_5224del	ENSP00000219476.3:p.Tyr1736_Ala1742delinsSer
ENST00000350773.8:c.5138_5155del	ENSP00000344383.4:p.Tyr1713_Ala1719delinsSer
ENST00000382538.10:c.4862_4879del	ENSP00000371978.6:p.Tyr1621_Ala1627delinsSer
ENST00000401874.6:c.5006_5023del	ENSP00000384468.2:p.Tyr1669_Ala1675delinsSer
ENST00000439117.6:c.*4374_*4391del	ENSP00000406980.2:n.*4374_*4391del
ENST00000439673.6:c.4898_4915del	ENSP00000399232.2:p.Tyr1633_Ala1639delinsSer
ENST00000497886.5:n.2930_2947del
ENST00000568454.5:c.5039_5056del	ENSP00000454487.1:p.Tyr1680_Ala1686delinsSer
ENST00000569110.1:c.1389_1406del
ENST00000569930.1:n.2322_2339del
NM_000548.3:c.5207_5224del , LRG_487t1:c.5207_5224del	NP_000539.2:p.Tyr1736_Ala1742delinsSer
NM_001077183.1:c.5006_5023del	NP_001070651.1:p.Tyr1669_Ala1675delinsSer
NM_001114382.1:c.5138_5155del	NP_001107854.1:p.Tyr1713_Ala1719delinsSer
XM_005255529.3:c.5078_5095del	XP_005255586.2:p.Tyr1693_Ala1699delinsSer
XM_005255531.3:c.5009_5026del	XP_005255588.2:p.Tyr1670_Ala1676delinsSer
XM_011522636.1:c.5261_5278del	XP_011520938.1:p.Tyr1754_Ala1760delinsSer
XM_011522637.1:c.5258_5275del	XP_011520939.1:p.Tyr1753_Ala1759delinsSer
XM_011522638.1:c.5150_5167del	XP_011520940.1:p.Tyr1717_Ala1723delinsSer
XM_011522639.1:c.5132_5149del	XP_011520941.1:p.Tyr1711_Ala1717delinsSer
XM_011522640.1:c.5129_5146del	XP_011520942.1:p.Tyr1710_Ala1716delinsSer
XM_011522641.1:c.4898_4915del	XP_011520943.1:p.Tyr1633_Ala1639delinsSer
NM_000548.4:c.5207_5224del	NP_000539.2:p.Tyr1736_Ala1742delinsSer
NM_001077183.2:c.5006_5023del	NP_001070651.1:p.Tyr1669_Ala1675delinsSer
NM_001114382.2:c.5138_5155del	NP_001107854.1:p.Tyr1713_Ala1719delinsSer
NM_001318827.1:c.4898_4915del	NP_001305756.1:p.Tyr1633_Ala1639delinsSer
NM_001318829.1:c.4862_4879del	NP_001305758.1:p.Tyr1621_Ala1627delinsSer
NM_001318831.1:c.4475_4492del	NP_001305760.1:p.Tyr1492_Ala1498delinsSer
NM_001318832.1:c.5039_5056del	NP_001305761.1:p.Tyr1680_Ala1686delinsSer
NM_001363528.1:c.5009_5026del	NP_001350457.1:p.Tyr1670_Ala1676delinsSer
NM_021055.2:c.5078_5095del	NP_066399.2:p.Tyr1693_Ala1699delinsSer
XM_005255531.4:c.5009_5026del	XP_005255588.2:p.Tyr1670_Ala1676delinsSer
XM_011522636.2:c.5261_5278del	XP_011520938.1:p.Tyr1754_Ala1760delinsSer
XM_011522637.2:c.5258_5275del	XP_011520939.1:p.Tyr1753_Ala1759delinsSer
XM_011522638.2:c.5423_5440del	XP_011520940.2:p.Tyr1808_Ala1814delinsSer
XM_011522639.2:c.5132_5149del	XP_011520941.1:p.Tyr1711_Ala1717delinsSer
XM_011522640.2:c.5129_5146del	XP_011520942.1:p.Tyr1710_Ala1716delinsSer
XM_017023615.1:c.5204_5221del	XP_016879104.1:p.Tyr1735_Ala1741delinsSer
XM_017023616.1:c.5075_5092del	XP_016879105.1:p.Tyr1692_Ala1698delinsSer
XM_017023617.1:c.5171_5188del	XP_016879106.1:p.Tyr1724_Ala1730delinsSer
XM_017023618.1:c.3917_3934del	XP_016879107.1:p.Tyr1306_Ala1312delinsSer
XM_024450413.1:c.5093_5110del	XP_024306181.1:p.Tyr1698_Ala1704delinsSer
NM_000548.5:c.5207_5224del MANE Select	NP_000539.2:p.Tyr1736_Ala1742delinsSer
NM_001370404.1:c.5075_5092del	NP_001357333.1:p.Tyr1692_Ala1698delinsSer
NM_001370405.1:c.5066_5083del	NP_001357334.1:p.Tyr1689_Ala1695delinsSer
NM_001077183.3:c.5006_5023del	NP_001070651.1:p.Tyr1669_Ala1675delinsSer
NM_001114382.3:c.5138_5155del	NP_001107854.1:p.Tyr1713_Ala1719delinsSer
NM_001318827.2:c.4898_4915del	NP_001305756.1:p.Tyr1633_Ala1639delinsSer
NM_001318829.2:c.4862_4879del	NP_001305758.1:p.Tyr1621_Ala1627delinsSer
NM_001318831.2:c.4475_4492del	NP_001305760.1:p.Tyr1492_Ala1498delinsSer
NM_001318832.2:c.5039_5056del	NP_001305761.1:p.Tyr1680_Ala1686delinsSer
NM_001363528.2:c.5009_5026del	NP_001350457.1:p.Tyr1670_Ala1676delinsSer
NM_021055.3:c.5078_5095del	NP_066399.2:p.Tyr1693_Ala1699delinsSer