Canonical Allele Identifier: CA492958111

Gene: TSC2

Linked Data

• ClinVar Variation Id: 825038
• ClinVar RCV Id: RCV001022771 ; RCV001410433
• dbSNP Id: rs1555515283
• gnomAD v4: 16-2085265-C-T
• MyVariant Identifiers: chr16:g.2135266C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2085265C>T , CM000678.2:g.2085265C>T	GRCh38
NC_000016.9:g.2135266C>T , CM000678.1:g.2135266C>T	GRCh37
NC_000016.8:g.2075267C>T	NCBI36
NG_005895.1:g.40960C>T , LRG_487:g.40960C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2954C>T	ENSP00000455997.2:n.*2954C>T
ENST00000642206.2:c.4452C>T	ENSP00000495146.2:p.Asp1484=
ENST00000642365.2:c.4602C>T	ENSP00000495459.2:p.Asp1534=
ENST00000644417.2:c.*4985C>T	ENSP00000493912.2:n.*4985C>T
ENST00000646464.2:c.*7354C>T	ENSP00000496610.2:n.*7354C>T
ENST00000219476.9:c.4605C>T MANE Select	ENSP00000219476.3:p.Asp1535=
ENST00000350773.9:c.4536C>T	ENSP00000344383.4:p.Asp1512=
ENST00000401874.7:c.4404C>T	ENSP00000384468.2:p.Asp1468=
ENST00000568454.6:c.4437C>T	ENSP00000454487.1:p.Asp1479=
ENST00000569110.2:c.828C>T
ENST00000569930.2:n.2487C>T
ENST00000642365.1:c.3259C>T
ENST00000642561.1:c.4476C>T	ENSP00000495099.1:p.Asp1492=
ENST00000642728.1:n.787C>T
ENST00000642791.1:n.202C>T
ENST00000642797.1:c.4407C>T	ENSP00000493846.1:p.Asp1469=
ENST00000642936.1:c.4473C>T	ENSP00000494514.1:p.Asp1491=
ENST00000643088.1:c.4398C>T	ENSP00000494747.1:p.Asp1466=
ENST00000643177.1:n.619C>T
ENST00000643426.1:n.2253C>T
ENST00000643946.1:c.4530C>T	ENSP00000495927.1:p.Asp1510=
ENST00000644043.1:c.4476C>T	ENSP00000496262.1:p.Asp1492=
ENST00000644278.1:n.87C>T
ENST00000644329.1:c.4404C>T	ENSP00000496611.1:p.Asp1468=
ENST00000644335.1:c.4401C>T	ENSP00000496317.1:p.Asp1467=
ENST00000644399.1:c.4526C>T
ENST00000645024.1:n.2689C>T
ENST00000646388.1:c.4599C>T	ENSP00000495921.1:p.Asp1533=
ENST00000646634.1:n.3420C>T
ENST00000646674.1:n.1857C>T
ENST00000647042.1:n.1828C>T
ENST00000647180.1:n.1718C>T
ENST00000219476.7:c.4605C>T	ENSP00000219476.3:p.Asp1535=
ENST00000350773.8:c.4536C>T	ENSP00000344383.4:p.Asp1512=
ENST00000382538.10:c.4260C>T	ENSP00000371978.6:p.Asp1420=
ENST00000401874.6:c.4404C>T	ENSP00000384468.2:p.Asp1468=
ENST00000439117.6:c.*3772C>T	ENSP00000406980.2:n.*3772C>T
ENST00000439673.6:c.4296C>T	ENSP00000399232.2:p.Asp1432=
ENST00000497886.5:n.2363C>T
ENST00000568454.5:c.4437C>T	ENSP00000454487.1:p.Asp1479=
ENST00000569110.1:c.787C>T
ENST00000569930.1:n.1720C>T
NM_000548.3:c.4605C>T , LRG_487t1:c.4605C>T	NP_000539.2:p.Asp1535=
NM_001077183.1:c.4404C>T	NP_001070651.1:p.Asp1468=
NM_001114382.1:c.4536C>T	NP_001107854.1:p.Asp1512=
XM_005255529.3:c.4476C>T	XP_005255586.2:p.Asp1492=
XM_005255531.3:c.4407C>T	XP_005255588.2:p.Asp1469=
XM_011522636.1:c.4659C>T	XP_011520938.1:p.Asp1553=
XM_011522637.1:c.4656C>T	XP_011520939.1:p.Asp1552=
XM_011522638.1:c.4548C>T	XP_011520940.1:p.Asp1516=
XM_011522639.1:c.4530C>T	XP_011520941.1:p.Asp1510=
XM_011522640.1:c.4527C>T	XP_011520942.1:p.Asp1509=
XM_011522641.1:c.4296C>T	XP_011520943.1:p.Asp1432=
NM_000548.4:c.4605C>T	NP_000539.2:p.Asp1535=
NM_001077183.2:c.4404C>T	NP_001070651.1:p.Asp1468=
NM_001114382.2:c.4536C>T	NP_001107854.1:p.Asp1512=
NM_001318827.1:c.4296C>T	NP_001305756.1:p.Asp1432=
NM_001318829.1:c.4260C>T	NP_001305758.1:p.Asp1420=
NM_001318831.1:c.3873C>T	NP_001305760.1:p.Asp1291=
NM_001318832.1:c.4437C>T	NP_001305761.1:p.Asp1479=
NM_001363528.1:c.4407C>T	NP_001350457.1:p.Asp1469=
NM_021055.2:c.4476C>T	NP_066399.2:p.Asp1492=
XM_005255531.4:c.4407C>T	XP_005255588.2:p.Asp1469=
XM_011522636.2:c.4659C>T	XP_011520938.1:p.Asp1553=
XM_011522637.2:c.4656C>T	XP_011520939.1:p.Asp1552=
XM_011522638.2:c.4821C>T	XP_011520940.2:p.Asp1607=
XM_011522639.2:c.4530C>T	XP_011520941.1:p.Asp1510=
XM_011522640.2:c.4527C>T	XP_011520942.1:p.Asp1509=
XM_017023615.1:c.4602C>T	XP_016879104.1:p.Asp1534=
XM_017023616.1:c.4473C>T	XP_016879105.1:p.Asp1491=
XM_017023617.1:c.4569C>T	XP_016879106.1:p.Asp1523=
XM_017023618.1:c.3315C>T	XP_016879107.1:p.Asp1105=
XM_024450413.1:c.4404C>T	XP_024306181.1:p.Asp1468=
NM_000548.5:c.4605C>T MANE Select	NP_000539.2:p.Asp1535=
NM_001370404.1:c.4473C>T	NP_001357333.1:p.Asp1491=
NM_001370405.1:c.4476C>T	NP_001357334.1:p.Asp1492=
NM_001077183.3:c.4404C>T	NP_001070651.1:p.Asp1468=
NM_001114382.3:c.4536C>T	NP_001107854.1:p.Asp1512=
NM_001318827.2:c.4296C>T	NP_001305756.1:p.Asp1432=
NM_001318829.2:c.4260C>T	NP_001305758.1:p.Asp1420=
NM_001318831.2:c.3873C>T	NP_001305760.1:p.Asp1291=
NM_001318832.2:c.4437C>T	NP_001305761.1:p.Asp1479=
NM_001363528.2:c.4407C>T	NP_001350457.1:p.Asp1469=
NM_021055.3:c.4476C>T	NP_066399.2:p.Asp1492=