Canonical Allele Identifier: CA2202032347

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088278_2088279delinsTC , CM000678.2:g.2088278_2088279delinsTC	GRCh38
NC_000016.9:g.2138279_2138280delinsTC , CM000678.1:g.2138279_2138280delinsTC	GRCh37
NC_000016.8:g.2078280_2078281delinsTC	NCBI36
NG_005895.1:g.43973_43974delinsTC , LRG_487:g.43973_43974delinsTC
NG_008617.1:g.54942_54943delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3561_*3562delinsTC	ENSP00000455997.2:n.*3561_*3562delinsTC
ENST00000642206.2:c.5059_5060delinsTC	ENSP00000495146.2:p.Ser1687=
ENST00000642365.2:c.5209_5210delinsTC	ENSP00000495459.2:p.Ser1737=
ENST00000644417.2:c.*5725_*5726delinsTC	ENSP00000493912.2:n.*5725_*5726delinsTC
ENST00000646464.2:c.*7961_*7962delinsTC	ENSP00000496610.2:n.*7961_*7962delinsTC
ENST00000219476.9:c.5212_5213delinsTC MANE Select	ENSP00000219476.3:p.Ser1738=
ENST00000350773.9:c.5143_5144delinsTC	ENSP00000344383.4:p.Ser1715=
ENST00000401874.7:c.5011_5012delinsTC	ENSP00000384468.2:p.Ser1671=
ENST00000568454.6:c.5044_5045delinsTC	ENSP00000454487.1:p.Ser1682=
ENST00000569110.2:c.1435_1436delinsTC
ENST00000569930.2:n.3094_3095delinsTC
ENST00000642365.1:c.3866_3867delinsTC
ENST00000642561.1:c.5071_5072delinsTC	ENSP00000495099.1:p.Ser1691=
ENST00000642791.1:n.809_810delinsTC
ENST00000642797.1:c.5014_5015delinsTC	ENSP00000493846.1:p.Ser1672=
ENST00000642936.1:c.5080_5081delinsTC	ENSP00000494514.1:p.Ser1694=
ENST00000643088.1:c.5005_5006delinsTC	ENSP00000494747.1:p.Ser1669=
ENST00000643426.1:n.2860_2861delinsTC
ENST00000643946.1:c.5137_5138delinsTC	ENSP00000495927.1:p.Ser1713=
ENST00000644043.1:c.5083_5084delinsTC	ENSP00000496262.1:p.Ser1695=
ENST00000644329.1:c.5098_5099delinsTC	ENSP00000496611.1:p.Ser1700=
ENST00000644335.1:c.5008_5009delinsTC	ENSP00000496317.1:p.Ser1670=
ENST00000644399.1:c.5133_5134delinsTC
ENST00000645024.1:n.3296_3297delinsTC
ENST00000646388.1:c.5206_5207delinsTC	ENSP00000495921.1:p.Ser1736=
ENST00000646634.1:n.4027_4028delinsTC
ENST00000646674.1:n.2464_2465delinsTC
ENST00000647042.1:n.2435_2436delinsTC
ENST00000647180.1:n.2325_2326delinsTC
ENST00000219476.7:c.5212_5213delinsTC	ENSP00000219476.3:p.Ser1738=
ENST00000350773.8:c.5143_5144delinsTC	ENSP00000344383.4:p.Ser1715=
ENST00000382538.10:c.4867_4868delinsTC	ENSP00000371978.6:p.Ser1623=
ENST00000401874.6:c.5011_5012delinsTC	ENSP00000384468.2:p.Ser1671=
ENST00000439117.6:c.*4379_*4380delinsTC	ENSP00000406980.2:n.*4379_*4380delinsTC
ENST00000439673.6:c.4903_4904delinsTC	ENSP00000399232.2:p.Ser1635=
ENST00000497886.5:n.2935_2936delinsTC
ENST00000568454.5:c.5044_5045delinsTC	ENSP00000454487.1:p.Ser1682=
ENST00000569110.1:c.1394_1395delinsTC
ENST00000569930.1:n.2327_2328delinsTC
NM_000548.3:c.5212_5213delinsTC , LRG_487t1:c.5212_5213delinsTC	NP_000539.2:p.Ser1738=
NM_001077183.1:c.5011_5012delinsTC	NP_001070651.1:p.Ser1671=
NM_001114382.1:c.5143_5144delinsTC	NP_001107854.1:p.Ser1715=
XM_005255529.3:c.5083_5084delinsTC	XP_005255586.2:p.Ser1695=
XM_005255531.3:c.5014_5015delinsTC	XP_005255588.2:p.Ser1672=
XM_011522636.1:c.5266_5267delinsTC	XP_011520938.1:p.Ser1756=
XM_011522637.1:c.5263_5264delinsTC	XP_011520939.1:p.Ser1755=
XM_011522638.1:c.5155_5156delinsTC	XP_011520940.1:p.Ser1719=
XM_011522639.1:c.5137_5138delinsTC	XP_011520941.1:p.Ser1713=
XM_011522640.1:c.5134_5135delinsTC	XP_011520942.1:p.Ser1712=
XM_011522641.1:c.4903_4904delinsTC	XP_011520943.1:p.Ser1635=
NM_000548.4:c.5212_5213delinsTC	NP_000539.2:p.Ser1738=
NM_001077183.2:c.5011_5012delinsTC	NP_001070651.1:p.Ser1671=
NM_001114382.2:c.5143_5144delinsTC	NP_001107854.1:p.Ser1715=
NM_001318827.1:c.4903_4904delinsTC	NP_001305756.1:p.Ser1635=
NM_001318829.1:c.4867_4868delinsTC	NP_001305758.1:p.Ser1623=
NM_001318831.1:c.4480_4481delinsTC	NP_001305760.1:p.Ser1494=
NM_001318832.1:c.5044_5045delinsTC	NP_001305761.1:p.Ser1682=
NM_001363528.1:c.5014_5015delinsTC	NP_001350457.1:p.Ser1672=
NM_021055.2:c.5083_5084delinsTC	NP_066399.2:p.Ser1695=
XM_005255531.4:c.5014_5015delinsTC	XP_005255588.2:p.Ser1672=
XM_011522636.2:c.5266_5267delinsTC	XP_011520938.1:p.Ser1756=
XM_011522637.2:c.5263_5264delinsTC	XP_011520939.1:p.Ser1755=
XM_011522638.2:c.5428_5429delinsTC	XP_011520940.2:p.Ser1810=
XM_011522639.2:c.5137_5138delinsTC	XP_011520941.1:p.Ser1713=
XM_011522640.2:c.5134_5135delinsTC	XP_011520942.1:p.Ser1712=
XM_017023615.1:c.5209_5210delinsTC	XP_016879104.1:p.Ser1737=
XM_017023616.1:c.5080_5081delinsTC	XP_016879105.1:p.Ser1694=
XM_017023617.1:c.5176_5177delinsTC	XP_016879106.1:p.Ser1726=
XM_017023618.1:c.3922_3923delinsTC	XP_016879107.1:p.Ser1308=
XM_024450413.1:c.5098_5099delinsTC	XP_024306181.1:p.Ser1700=
NM_000548.5:c.5212_5213delinsTC MANE Select	NP_000539.2:p.Ser1738=
NM_001370404.1:c.5080_5081delinsTC	NP_001357333.1:p.Ser1694=
NM_001370405.1:c.5071_5072delinsTC	NP_001357334.1:p.Ser1691=
NM_001077183.3:c.5011_5012delinsTC	NP_001070651.1:p.Ser1671=
NM_001114382.3:c.5143_5144delinsTC	NP_001107854.1:p.Ser1715=
NM_001318827.2:c.4903_4904delinsTC	NP_001305756.1:p.Ser1635=
NM_001318829.2:c.4867_4868delinsTC	NP_001305758.1:p.Ser1623=
NM_001318831.2:c.4480_4481delinsTC	NP_001305760.1:p.Ser1494=
NM_001318832.2:c.5044_5045delinsTC	NP_001305761.1:p.Ser1682=
NM_001363528.2:c.5014_5015delinsTC	NP_001350457.1:p.Ser1672=
NM_021055.3:c.5083_5084delinsTC	NP_066399.2:p.Ser1695=