Canonical Allele Identifier: CA2840918585

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2086679C>A , CM000678.2:g.2086679C>A	GRCh38
NC_000016.9:g.2136680C>A , CM000678.1:g.2136680C>A	GRCh37
NC_000016.8:g.2076681C>A	NCBI36
NG_005895.1:g.42374C>A , LRG_487:g.42374C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3199-53C>A	ENSP00000455997.2:n.*3199-53C>A
ENST00000642206.2:c.4697-53C>A	ENSP00000495146.2:n.4697-53C>A
ENST00000642365.2:c.4847-53C>A	ENSP00000495459.2:n.4847-53C>A
ENST00000644417.2:c.*5363-53C>A	ENSP00000493912.2:n.*5363-53C>A
ENST00000646464.2:c.*7599-53C>A	ENSP00000496610.2:n.*7599-53C>A
ENST00000219476.9:c.4850-53C>A MANE Select	ENSP00000219476.3:n.4850-53C>A
ENST00000350773.9:c.4781-53C>A	ENSP00000344383.4:n.4781-53C>A
ENST00000401874.7:c.4649-53C>A	ENSP00000384468.2:n.4649-53C>A
ENST00000568454.6:c.4682-53C>A	ENSP00000454487.1:n.4682-53C>A
ENST00000569110.2:c.1073-53C>A
ENST00000569930.2:n.2732-53C>A
ENST00000642365.1:c.3504-53C>A
ENST00000642561.1:c.4721-53C>A	ENSP00000495099.1:n.4721-53C>A
ENST00000642728.1:n.1032-53C>A
ENST00000642791.1:n.447-53C>A
ENST00000642797.1:c.4652-53C>A	ENSP00000493846.1:n.4652-53C>A
ENST00000642936.1:c.4718-53C>A	ENSP00000494514.1:n.4718-53C>A
ENST00000643088.1:c.4643-53C>A	ENSP00000494747.1:n.4643-53C>A
ENST00000643177.1:n.864-53C>A
ENST00000643426.1:n.2498-53C>A
ENST00000643946.1:c.4775-53C>A	ENSP00000495927.1:n.4775-53C>A
ENST00000644043.1:c.4721-53C>A	ENSP00000496262.1:n.4721-53C>A
ENST00000644278.1:n.332-53C>A
ENST00000644329.1:c.4649-53C>A	ENSP00000496611.1:n.4649-53C>A
ENST00000644335.1:c.4646-53C>A	ENSP00000496317.1:n.4646-53C>A
ENST00000644399.1:c.4771-53C>A
ENST00000645024.1:n.2934-53C>A
ENST00000646388.1:c.4844-53C>A	ENSP00000495921.1:n.4844-53C>A
ENST00000646557.1:n.11-53C>A
ENST00000646634.1:n.3665-53C>A
ENST00000646674.1:n.2102-53C>A
ENST00000647042.1:n.2073-53C>A
ENST00000647180.1:n.1963-53C>A
ENST00000219476.7:c.4850-53C>A	ENSP00000219476.3:n.4850-53C>A
ENST00000350773.8:c.4781-53C>A	ENSP00000344383.4:n.4781-53C>A
ENST00000382538.10:c.4505-53C>A	ENSP00000371978.6:n.4505-53C>A
ENST00000401874.6:c.4649-53C>A	ENSP00000384468.2:n.4649-53C>A
ENST00000439117.6:c.*4017-53C>A	ENSP00000406980.2:n.*4017-53C>A
ENST00000439673.6:c.4541-53C>A	ENSP00000399232.2:n.4541-53C>A
ENST00000497886.5:n.2608-88C>A
ENST00000568454.5:c.4682-53C>A	ENSP00000454487.1:n.4682-53C>A
ENST00000569110.1:c.1032-53C>A
ENST00000569930.1:n.1965-53C>A
NM_000548.3:c.4850-53C>A , LRG_487t1:c.4850-53C>A	NP_000539.2:n.4850-53C>A
NM_001077183.1:c.4649-53C>A	NP_001070651.1:n.4649-53C>A
NM_001114382.1:c.4781-53C>A	NP_001107854.1:n.4781-53C>A
XM_005255529.3:c.4721-53C>A	XP_005255586.2:n.4721-53C>A
XM_005255531.3:c.4652-53C>A	XP_005255588.2:n.4652-53C>A
XM_011522636.1:c.4904-53C>A	XP_011520938.1:n.4904-53C>A
XM_011522637.1:c.4901-53C>A	XP_011520939.1:n.4901-53C>A
XM_011522638.1:c.4793-53C>A	XP_011520940.1:n.4793-53C>A
XM_011522639.1:c.4775-53C>A	XP_011520941.1:n.4775-53C>A
XM_011522640.1:c.4772-53C>A	XP_011520942.1:n.4772-53C>A
XM_011522641.1:c.4541-53C>A	XP_011520943.1:n.4541-53C>A
NM_000548.4:c.4850-53C>A	NP_000539.2:n.4850-53C>A
NM_001077183.2:c.4649-53C>A	NP_001070651.1:n.4649-53C>A
NM_001114382.2:c.4781-53C>A	NP_001107854.1:n.4781-53C>A
NM_001318827.1:c.4541-53C>A	NP_001305756.1:n.4541-53C>A
NM_001318829.1:c.4505-53C>A	NP_001305758.1:n.4505-53C>A
NM_001318831.1:c.4118-53C>A	NP_001305760.1:n.4118-53C>A
NM_001318832.1:c.4682-53C>A	NP_001305761.1:n.4682-53C>A
NM_001363528.1:c.4652-53C>A	NP_001350457.1:n.4652-53C>A
NM_021055.2:c.4721-53C>A	NP_066399.2:n.4721-53C>A
XM_005255531.4:c.4652-53C>A	XP_005255588.2:n.4652-53C>A
XM_011522636.2:c.4904-53C>A	XP_011520938.1:n.4904-53C>A
XM_011522637.2:c.4901-53C>A	XP_011520939.1:n.4901-53C>A
XM_011522638.2:c.5066-53C>A	XP_011520940.2:n.5066-53C>A
XM_011522639.2:c.4775-53C>A	XP_011520941.1:n.4775-53C>A
XM_011522640.2:c.4772-53C>A	XP_011520942.1:n.4772-53C>A
XM_017023615.1:c.4847-53C>A	XP_016879104.1:n.4847-53C>A
XM_017023616.1:c.4718-53C>A	XP_016879105.1:n.4718-53C>A
XM_017023617.1:c.4814-53C>A	XP_016879106.1:n.4814-53C>A
XM_017023618.1:c.3560-53C>A	XP_016879107.1:n.3560-53C>A
XM_024450413.1:c.4649-53C>A	XP_024306181.1:n.4649-53C>A
NM_000548.5:c.4850-53C>A MANE Select	NP_000539.2:n.4850-53C>A
NM_001370404.1:c.4718-53C>A	NP_001357333.1:n.4718-53C>A
NM_001370405.1:c.4721-53C>A	NP_001357334.1:n.4721-53C>A
NM_001077183.3:c.4649-53C>A	NP_001070651.1:n.4649-53C>A
NM_001114382.3:c.4781-53C>A	NP_001107854.1:n.4781-53C>A
NM_001318827.2:c.4541-53C>A	NP_001305756.1:n.4541-53C>A
NM_001318829.2:c.4505-53C>A	NP_001305758.1:n.4505-53C>A
NM_001318831.2:c.4118-53C>A	NP_001305760.1:n.4118-53C>A
NM_001318832.2:c.4682-53C>A	NP_001305761.1:n.4682-53C>A
NM_001363528.2:c.4652-53C>A	NP_001350457.1:n.4652-53C>A
NM_021055.3:c.4721-53C>A	NP_066399.2:n.4721-53C>A