Canonical Allele Identifier: CA020824

Gene: TSC2

Linked Data

• ClinVar Variation Id: 49310
• ClinVar RCV Id: RCV000042570 ; RCV000691590 ; RCV002336157
• dbSNP Id: rs137854146
• MyVariant Identifiers: chr16:g.2135316_2135318del (hg19) ; chr16:g.2085315_2085317del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2085315_2085317del , CM000678.2:g.2085315_2085317del	GRCh38
NC_000016.9:g.2135316_2135318del , CM000678.1:g.2135316_2135318del	GRCh37
NC_000016.8:g.2075317_2075319del	NCBI36
NG_005895.1:g.41010_41012del , LRG_487:g.41010_41012del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3004_*3006del	ENSP00000455997.2:n.*3004_*3006del
ENST00000642206.2:c.4502_4504del	ENSP00000495146.2:p.Glu1501del
ENST00000642365.2:c.4652_4654del	ENSP00000495459.2:p.Glu1551del
ENST00000644417.2:c.*5035_*5037del	ENSP00000493912.2:n.*5035_*5037del
ENST00000646464.2:c.*7404_*7406del	ENSP00000496610.2:n.*7404_*7406del
ENST00000219476.9:c.4655_4657del MANE Select	ENSP00000219476.3:p.Glu1552del
ENST00000350773.9:c.4586_4588del	ENSP00000344383.4:p.Glu1529del
ENST00000401874.7:c.4454_4456del	ENSP00000384468.2:p.Glu1485del
ENST00000568454.6:c.4487_4489del	ENSP00000454487.1:p.Glu1496del
ENST00000569110.2:c.878_880del
ENST00000569930.2:n.2537_2539del
ENST00000642365.1:c.3309_3311del
ENST00000642561.1:c.4526_4528del	ENSP00000495099.1:p.Glu1509del
ENST00000642728.1:n.837_839del
ENST00000642791.1:n.252_254del
ENST00000642797.1:c.4457_4459del	ENSP00000493846.1:p.Glu1486del
ENST00000642936.1:c.4523_4525del	ENSP00000494514.1:p.Glu1508del
ENST00000643088.1:c.4448_4450del	ENSP00000494747.1:p.Glu1483del
ENST00000643177.1:n.669_671del
ENST00000643426.1:n.2303_2305del
ENST00000643946.1:c.4580_4582del	ENSP00000495927.1:p.Glu1527del
ENST00000644043.1:c.4526_4528del	ENSP00000496262.1:p.Glu1509del
ENST00000644278.1:n.137_139del
ENST00000644329.1:c.4454_4456del	ENSP00000496611.1:p.Glu1485del
ENST00000644335.1:c.4451_4453del	ENSP00000496317.1:p.Glu1484del
ENST00000644399.1:c.4576_4578del
ENST00000645024.1:n.2739_2741del
ENST00000646388.1:c.4649_4651del	ENSP00000495921.1:p.Glu1550del
ENST00000646634.1:n.3470_3472del
ENST00000646674.1:n.1907_1909del
ENST00000647042.1:n.1878_1880del
ENST00000647180.1:n.1768_1770del
ENST00000219476.7:c.4655_4657del	ENSP00000219476.3:p.Glu1552del
ENST00000350773.8:c.4586_4588del	ENSP00000344383.4:p.Glu1529del
ENST00000382538.10:c.4310_4312del	ENSP00000371978.6:p.Glu1437del
ENST00000401874.6:c.4454_4456del	ENSP00000384468.2:p.Glu1485del
ENST00000439117.6:c.*3822_*3824del	ENSP00000406980.2:n.*3822_*3824del
ENST00000439673.6:c.4346_4348del	ENSP00000399232.2:p.Glu1449del
ENST00000497886.5:n.2413_2415del
ENST00000568454.5:c.4487_4489del	ENSP00000454487.1:p.Glu1496del
ENST00000569110.1:c.837_839del
ENST00000569930.1:n.1770_1772del
NM_000548.3:c.4655_4657del , LRG_487t1:c.4655_4657del	NP_000539.2:p.Glu1552del
NM_001077183.1:c.4454_4456del	NP_001070651.1:p.Glu1485del
NM_001114382.1:c.4586_4588del	NP_001107854.1:p.Glu1529del
XM_005255529.3:c.4526_4528del	XP_005255586.2:p.Glu1509del
XM_005255531.3:c.4457_4459del	XP_005255588.2:p.Glu1486del
XM_011522636.1:c.4709_4711del	XP_011520938.1:p.Glu1570del
XM_011522637.1:c.4706_4708del	XP_011520939.1:p.Glu1569del
XM_011522638.1:c.4598_4600del	XP_011520940.1:p.Glu1533del
XM_011522639.1:c.4580_4582del	XP_011520941.1:p.Glu1527del
XM_011522640.1:c.4577_4579del	XP_011520942.1:p.Glu1526del
XM_011522641.1:c.4346_4348del	XP_011520943.1:p.Glu1449del
NM_000548.4:c.4655_4657del	NP_000539.2:p.Glu1552del
NM_001077183.2:c.4454_4456del	NP_001070651.1:p.Glu1485del
NM_001114382.2:c.4586_4588del	NP_001107854.1:p.Glu1529del
NM_001318827.1:c.4346_4348del	NP_001305756.1:p.Glu1449del
NM_001318829.1:c.4310_4312del	NP_001305758.1:p.Glu1437del
NM_001318831.1:c.3923_3925del	NP_001305760.1:p.Glu1308del
NM_001318832.1:c.4487_4489del	NP_001305761.1:p.Glu1496del
NM_001363528.1:c.4457_4459del	NP_001350457.1:p.Glu1486del
NM_021055.2:c.4526_4528del	NP_066399.2:p.Glu1509del
XM_005255531.4:c.4457_4459del	XP_005255588.2:p.Glu1486del
XM_011522636.2:c.4709_4711del	XP_011520938.1:p.Glu1570del
XM_011522637.2:c.4706_4708del	XP_011520939.1:p.Glu1569del
XM_011522638.2:c.4871_4873del	XP_011520940.2:p.Glu1624del
XM_011522639.2:c.4580_4582del	XP_011520941.1:p.Glu1527del
XM_011522640.2:c.4577_4579del	XP_011520942.1:p.Glu1526del
XM_017023615.1:c.4652_4654del	XP_016879104.1:p.Glu1551del
XM_017023616.1:c.4523_4525del	XP_016879105.1:p.Glu1508del
XM_017023617.1:c.4619_4621del	XP_016879106.1:p.Glu1540del
XM_017023618.1:c.3365_3367del	XP_016879107.1:p.Glu1122del
XM_024450413.1:c.4454_4456del	XP_024306181.1:p.Glu1485del
NM_000548.5:c.4655_4657del MANE Select	NP_000539.2:p.Glu1552del
NM_001370404.1:c.4523_4525del	NP_001357333.1:p.Glu1508del
NM_001370405.1:c.4526_4528del	NP_001357334.1:p.Glu1509del
NM_001077183.3:c.4454_4456del	NP_001070651.1:p.Glu1485del
NM_001114382.3:c.4586_4588del	NP_001107854.1:p.Glu1529del
NM_001318827.2:c.4346_4348del	NP_001305756.1:p.Glu1449del
NM_001318829.2:c.4310_4312del	NP_001305758.1:p.Glu1437del
NM_001318831.2:c.3923_3925del	NP_001305760.1:p.Glu1308del
NM_001318832.2:c.4487_4489del	NP_001305761.1:p.Glu1496del
NM_001363528.2:c.4457_4459del	NP_001350457.1:p.Glu1486del
NM_021055.3:c.4526_4528del	NP_066399.2:p.Glu1509del