Canonical Allele Identifier: CA020755

Gene: TSC2

Linked Data

• ClinVar Variation Id: 65219
• ClinVar RCV Id: RCV000055439
• dbSNP Id: rs397515160
• MyVariant Identifiers: chr16:g.2135265A>C (hg19) ; chr16:g.2085264A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2085264A>C , CM000678.2:g.2085264A>C	GRCh38
NC_000016.9:g.2135265A>C , CM000678.1:g.2135265A>C	GRCh37
NC_000016.8:g.2075266A>C	NCBI36
NG_005895.1:g.40959A>C , LRG_487:g.40959A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2953A>C	ENSP00000455997.2:n.*2953A>C
ENST00000642206.2:c.4451A>C	ENSP00000495146.2:p.Asp1484Ala
ENST00000642365.2:c.4601A>C	ENSP00000495459.2:p.Asp1534Ala
ENST00000644417.2:c.*4984A>C	ENSP00000493912.2:n.*4984A>C
ENST00000646464.2:c.*7353A>C	ENSP00000496610.2:n.*7353A>C
ENST00000219476.9:c.4604A>C MANE Select	ENSP00000219476.3:p.Asp1535Ala
ENST00000350773.9:c.4535A>C	ENSP00000344383.4:p.Asp1512Ala
ENST00000401874.7:c.4403A>C	ENSP00000384468.2:p.Asp1468Ala
ENST00000568454.6:c.4436A>C	ENSP00000454487.1:p.Asp1479Ala
ENST00000569110.2:c.827A>C
ENST00000569930.2:n.2486A>C
ENST00000642365.1:c.3258A>C
ENST00000642561.1:c.4475A>C	ENSP00000495099.1:p.Asp1492Ala
ENST00000642728.1:n.786A>C
ENST00000642791.1:n.201A>C
ENST00000642797.1:c.4406A>C	ENSP00000493846.1:p.Asp1469Ala
ENST00000642936.1:c.4472A>C	ENSP00000494514.1:p.Asp1491Ala
ENST00000643088.1:c.4397A>C	ENSP00000494747.1:p.Asp1466Ala
ENST00000643177.1:n.618A>C
ENST00000643426.1:n.2252A>C
ENST00000643946.1:c.4529A>C	ENSP00000495927.1:p.Asp1510Ala
ENST00000644043.1:c.4475A>C	ENSP00000496262.1:p.Asp1492Ala
ENST00000644278.1:n.86A>C
ENST00000644329.1:c.4403A>C	ENSP00000496611.1:p.Asp1468Ala
ENST00000644335.1:c.4400A>C	ENSP00000496317.1:p.Asp1467Ala
ENST00000644399.1:c.4525A>C
ENST00000645024.1:n.2688A>C
ENST00000646388.1:c.4598A>C	ENSP00000495921.1:p.Asp1533Ala
ENST00000646634.1:n.3419A>C
ENST00000646674.1:n.1856A>C
ENST00000647042.1:n.1827A>C
ENST00000647180.1:n.1717A>C
ENST00000219476.7:c.4604A>C	ENSP00000219476.3:p.Asp1535Ala
ENST00000350773.8:c.4535A>C	ENSP00000344383.4:p.Asp1512Ala
ENST00000382538.10:c.4259A>C	ENSP00000371978.6:p.Asp1420Ala
ENST00000401874.6:c.4403A>C	ENSP00000384468.2:p.Asp1468Ala
ENST00000439117.6:c.*3771A>C	ENSP00000406980.2:n.*3771A>C
ENST00000439673.6:c.4295A>C	ENSP00000399232.2:p.Asp1432Ala
ENST00000497886.5:n.2362A>C
ENST00000568454.5:c.4436A>C	ENSP00000454487.1:p.Asp1479Ala
ENST00000569110.1:c.786A>C
ENST00000569930.1:n.1719A>C
NM_000548.3:c.4604A>C , LRG_487t1:c.4604A>C	NP_000539.2:p.Asp1535Ala
NM_001077183.1:c.4403A>C	NP_001070651.1:p.Asp1468Ala
NM_001114382.1:c.4535A>C	NP_001107854.1:p.Asp1512Ala
XM_005255529.3:c.4475A>C	XP_005255586.2:p.Asp1492Ala
XM_005255531.3:c.4406A>C	XP_005255588.2:p.Asp1469Ala
XM_011522636.1:c.4658A>C	XP_011520938.1:p.Asp1553Ala
XM_011522637.1:c.4655A>C	XP_011520939.1:p.Asp1552Ala
XM_011522638.1:c.4547A>C	XP_011520940.1:p.Asp1516Ala
XM_011522639.1:c.4529A>C	XP_011520941.1:p.Asp1510Ala
XM_011522640.1:c.4526A>C	XP_011520942.1:p.Asp1509Ala
XM_011522641.1:c.4295A>C	XP_011520943.1:p.Asp1432Ala
NM_000548.4:c.4604A>C	NP_000539.2:p.Asp1535Ala
NM_001077183.2:c.4403A>C	NP_001070651.1:p.Asp1468Ala
NM_001114382.2:c.4535A>C	NP_001107854.1:p.Asp1512Ala
NM_001318827.1:c.4295A>C	NP_001305756.1:p.Asp1432Ala
NM_001318829.1:c.4259A>C	NP_001305758.1:p.Asp1420Ala
NM_001318831.1:c.3872A>C	NP_001305760.1:p.Asp1291Ala
NM_001318832.1:c.4436A>C	NP_001305761.1:p.Asp1479Ala
NM_001363528.1:c.4406A>C	NP_001350457.1:p.Asp1469Ala
NM_021055.2:c.4475A>C	NP_066399.2:p.Asp1492Ala
XM_005255531.4:c.4406A>C	XP_005255588.2:p.Asp1469Ala
XM_011522636.2:c.4658A>C	XP_011520938.1:p.Asp1553Ala
XM_011522637.2:c.4655A>C	XP_011520939.1:p.Asp1552Ala
XM_011522638.2:c.4820A>C	XP_011520940.2:p.Asp1607Ala
XM_011522639.2:c.4529A>C	XP_011520941.1:p.Asp1510Ala
XM_011522640.2:c.4526A>C	XP_011520942.1:p.Asp1509Ala
XM_017023615.1:c.4601A>C	XP_016879104.1:p.Asp1534Ala
XM_017023616.1:c.4472A>C	XP_016879105.1:p.Asp1491Ala
XM_017023617.1:c.4568A>C	XP_016879106.1:p.Asp1523Ala
XM_017023618.1:c.3314A>C	XP_016879107.1:p.Asp1105Ala
XM_024450413.1:c.4403A>C	XP_024306181.1:p.Asp1468Ala
NM_000548.5:c.4604A>C MANE Select	NP_000539.2:p.Asp1535Ala
NM_001370404.1:c.4472A>C	NP_001357333.1:p.Asp1491Ala
NM_001370405.1:c.4475A>C	NP_001357334.1:p.Asp1492Ala
NM_001077183.3:c.4403A>C	NP_001070651.1:p.Asp1468Ala
NM_001114382.3:c.4535A>C	NP_001107854.1:p.Asp1512Ala
NM_001318827.2:c.4295A>C	NP_001305756.1:p.Asp1432Ala
NM_001318829.2:c.4259A>C	NP_001305758.1:p.Asp1420Ala
NM_001318831.2:c.3872A>C	NP_001305760.1:p.Asp1291Ala
NM_001318832.2:c.4436A>C	NP_001305761.1:p.Asp1479Ala
NM_001363528.2:c.4406A>C	NP_001350457.1:p.Asp1469Ala
NM_021055.3:c.4475A>C	NP_066399.2:p.Asp1492Ala