Canonical Allele Identifier: CA645572657

Gene: TSC2

Linked Data

• COSMIC: COSM1717889

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088294_2088295delinsAA , CM000678.2:g.2088294_2088295delinsAA	GRCh38
NC_000016.9:g.2138295_2138296delinsAA , CM000678.1:g.2138295_2138296delinsAA	GRCh37
NC_000016.8:g.2078296_2078297delinsAA	NCBI36
NG_005895.1:g.43989_43990delinsAA , LRG_487:g.43989_43990delinsAA
NG_008617.1:g.54926_54927delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3577_*3578delinsAA	ENSP00000455997.2:n.*3577_*3578delinsAA
ENST00000642206.2:c.5075_5076delinsAA	ENSP00000495146.2:p.Arg1692Gln
ENST00000642365.2:c.5225_5226delinsAA	ENSP00000495459.2:p.Arg1742Gln
ENST00000644417.2:c.*5741_*5742delinsAA	ENSP00000493912.2:n.*5741_*5742delinsAA
ENST00000646464.2:c.*7977_*7978delinsAA	ENSP00000496610.2:n.*7977_*7978delinsAA
ENST00000219476.9:c.5228_5229delinsAA MANE Select	ENSP00000219476.3:p.Arg1743Gln
ENST00000350773.9:c.5159_5160delinsAA	ENSP00000344383.4:p.Arg1720Gln
ENST00000401874.7:c.5027_5028delinsAA	ENSP00000384468.2:p.Arg1676Gln
ENST00000568454.6:c.5060_5061delinsAA	ENSP00000454487.1:p.Arg1687Gln
ENST00000569110.2:c.1451_1452delinsAA
ENST00000569930.2:n.3110_3111delinsAA
ENST00000642365.1:c.3882_3883delinsAA
ENST00000642561.1:c.5087_5088delinsAA	ENSP00000495099.1:p.Arg1696Gln
ENST00000642791.1:n.825_826delinsAA
ENST00000642797.1:c.5030_5031delinsAA	ENSP00000493846.1:p.Arg1677Gln
ENST00000642936.1:c.5096_5097delinsAA	ENSP00000494514.1:p.Arg1699Gln
ENST00000643088.1:c.5021_5022delinsAA	ENSP00000494747.1:p.Arg1674Gln
ENST00000643426.1:n.2876_2877delinsAA
ENST00000643946.1:c.5153_5154delinsAA	ENSP00000495927.1:p.Arg1718Gln
ENST00000644043.1:c.5099_5100delinsAA	ENSP00000496262.1:p.Arg1700Gln
ENST00000644329.1:c.5114_5115delinsAA	ENSP00000496611.1:p.Arg1705Gln
ENST00000644335.1:c.5024_5025delinsAA	ENSP00000496317.1:p.Arg1675Gln
ENST00000644399.1:c.5149_5150delinsAA
ENST00000645024.1:n.3312_3313delinsAA
ENST00000646388.1:c.5222_5223delinsAA	ENSP00000495921.1:p.Arg1741Gln
ENST00000646634.1:n.4043_4044delinsAA
ENST00000646674.1:n.2480_2481delinsAA
ENST00000647042.1:n.2451_2452delinsAA
ENST00000647180.1:n.2341_2342delinsAA
ENST00000219476.7:c.5228_5229delinsAA	ENSP00000219476.3:p.Arg1743Gln
ENST00000350773.8:c.5159_5160delinsAA	ENSP00000344383.4:p.Arg1720Gln
ENST00000382538.10:c.4883_4884delinsAA	ENSP00000371978.6:p.Arg1628Gln
ENST00000401874.6:c.5027_5028delinsAA	ENSP00000384468.2:p.Arg1676Gln
ENST00000439117.6:c.*4395_*4396delinsAA	ENSP00000406980.2:n.*4395_*4396delinsAA
ENST00000439673.6:c.4919_4920delinsAA	ENSP00000399232.2:p.Arg1640Gln
ENST00000497886.5:n.2951_2952delinsAA
ENST00000568454.5:c.5060_5061delinsAA	ENSP00000454487.1:p.Arg1687Gln
ENST00000569110.1:c.1410_1411delinsAA
ENST00000569930.1:n.2343_2344delinsAA
NM_000548.3:c.5228_5229delinsAA , LRG_487t1:c.5228_5229delinsAA	NP_000539.2:p.Arg1743Gln
NM_001077183.1:c.5027_5028delinsAA	NP_001070651.1:p.Arg1676Gln
NM_001114382.1:c.5159_5160delinsAA	NP_001107854.1:p.Arg1720Gln
XM_005255529.3:c.5099_5100delinsAA	XP_005255586.2:p.Arg1700Gln
XM_005255531.3:c.5030_5031delinsAA	XP_005255588.2:p.Arg1677Gln
XM_011522636.1:c.5282_5283delinsAA	XP_011520938.1:p.Arg1761Gln
XM_011522637.1:c.5279_5280delinsAA	XP_011520939.1:p.Arg1760Gln
XM_011522638.1:c.5171_5172delinsAA	XP_011520940.1:p.Arg1724Gln
XM_011522639.1:c.5153_5154delinsAA	XP_011520941.1:p.Arg1718Gln
XM_011522640.1:c.5150_5151delinsAA	XP_011520942.1:p.Arg1717Gln
XM_011522641.1:c.4919_4920delinsAA	XP_011520943.1:p.Arg1640Gln
NM_000548.4:c.5228_5229delinsAA	NP_000539.2:p.Arg1743Gln
NM_001077183.2:c.5027_5028delinsAA	NP_001070651.1:p.Arg1676Gln
NM_001114382.2:c.5159_5160delinsAA	NP_001107854.1:p.Arg1720Gln
NM_001318827.1:c.4919_4920delinsAA	NP_001305756.1:p.Arg1640Gln
NM_001318829.1:c.4883_4884delinsAA	NP_001305758.1:p.Arg1628Gln
NM_001318831.1:c.4496_4497delinsAA	NP_001305760.1:p.Arg1499Gln
NM_001318832.1:c.5060_5061delinsAA	NP_001305761.1:p.Arg1687Gln
NM_001363528.1:c.5030_5031delinsAA	NP_001350457.1:p.Arg1677Gln
NM_021055.2:c.5099_5100delinsAA	NP_066399.2:p.Arg1700Gln
XM_005255531.4:c.5030_5031delinsAA	XP_005255588.2:p.Arg1677Gln
XM_011522636.2:c.5282_5283delinsAA	XP_011520938.1:p.Arg1761Gln
XM_011522637.2:c.5279_5280delinsAA	XP_011520939.1:p.Arg1760Gln
XM_011522638.2:c.5444_5445delinsAA	XP_011520940.2:p.Arg1815Gln
XM_011522639.2:c.5153_5154delinsAA	XP_011520941.1:p.Arg1718Gln
XM_011522640.2:c.5150_5151delinsAA	XP_011520942.1:p.Arg1717Gln
XM_017023615.1:c.5225_5226delinsAA	XP_016879104.1:p.Arg1742Gln
XM_017023616.1:c.5096_5097delinsAA	XP_016879105.1:p.Arg1699Gln
XM_017023617.1:c.5192_5193delinsAA	XP_016879106.1:p.Arg1731Gln
XM_017023618.1:c.3938_3939delinsAA	XP_016879107.1:p.Arg1313Gln
XM_024450413.1:c.5114_5115delinsAA	XP_024306181.1:p.Arg1705Gln
NM_000548.5:c.5228_5229delinsAA MANE Select	NP_000539.2:p.Arg1743Gln
NM_001370404.1:c.5096_5097delinsAA	NP_001357333.1:p.Arg1699Gln
NM_001370405.1:c.5087_5088delinsAA	NP_001357334.1:p.Arg1696Gln
NM_001077183.3:c.5027_5028delinsAA	NP_001070651.1:p.Arg1676Gln
NM_001114382.3:c.5159_5160delinsAA	NP_001107854.1:p.Arg1720Gln
NM_001318827.2:c.4919_4920delinsAA	NP_001305756.1:p.Arg1640Gln
NM_001318829.2:c.4883_4884delinsAA	NP_001305758.1:p.Arg1628Gln
NM_001318831.2:c.4496_4497delinsAA	NP_001305760.1:p.Arg1499Gln
NM_001318832.2:c.5060_5061delinsAA	NP_001305761.1:p.Arg1687Gln
NM_001363528.2:c.5030_5031delinsAA	NP_001350457.1:p.Arg1677Gln
NM_021055.3:c.5099_5100delinsAA	NP_066399.2:p.Arg1700Gln