Canonical Allele Identifier: CA394305003

Gene: TSC2

Linked Data

• ClinVar Variation Id: 1424662
• ClinVar RCV Id: RCV001923936
• dbSNP Id: rs2151553395
• MyVariant Identifiers: chr16:g.2135310T>A (hg19) ; chr16:g.2085309T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2085309T>A , CM000678.2:g.2085309T>A	GRCh38
NC_000016.9:g.2135310T>A , CM000678.1:g.2135310T>A	GRCh37
NC_000016.8:g.2075311T>A	NCBI36
NG_005895.1:g.41004T>A , LRG_487:g.41004T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2998T>A	ENSP00000455997.2:n.*2998T>A
ENST00000642206.2:c.4496T>A	ENSP00000495146.2:p.Val1499Asp
ENST00000642365.2:c.4646T>A	ENSP00000495459.2:p.Val1549Asp
ENST00000644417.2:c.*5029T>A	ENSP00000493912.2:n.*5029T>A
ENST00000646464.2:c.*7398T>A	ENSP00000496610.2:n.*7398T>A
ENST00000219476.9:c.4649T>A MANE Select	ENSP00000219476.3:p.Val1550Asp
ENST00000350773.9:c.4580T>A	ENSP00000344383.4:p.Val1527Asp
ENST00000401874.7:c.4448T>A	ENSP00000384468.2:p.Val1483Asp
ENST00000568454.6:c.4481T>A	ENSP00000454487.1:p.Val1494Asp
ENST00000569110.2:c.872T>A
ENST00000569930.2:n.2531T>A
ENST00000642365.1:c.3303T>A
ENST00000642561.1:c.4520T>A	ENSP00000495099.1:p.Val1507Asp
ENST00000642728.1:n.831T>A
ENST00000642791.1:n.246T>A
ENST00000642797.1:c.4451T>A	ENSP00000493846.1:p.Val1484Asp
ENST00000642936.1:c.4517T>A	ENSP00000494514.1:p.Val1506Asp
ENST00000643088.1:c.4442T>A	ENSP00000494747.1:p.Val1481Asp
ENST00000643177.1:n.663T>A
ENST00000643426.1:n.2297T>A
ENST00000643946.1:c.4574T>A	ENSP00000495927.1:p.Val1525Asp
ENST00000644043.1:c.4520T>A	ENSP00000496262.1:p.Val1507Asp
ENST00000644278.1:n.131T>A
ENST00000644329.1:c.4448T>A	ENSP00000496611.1:p.Val1483Asp
ENST00000644335.1:c.4445T>A	ENSP00000496317.1:p.Val1482Asp
ENST00000644399.1:c.4570T>A
ENST00000645024.1:n.2733T>A
ENST00000646388.1:c.4643T>A	ENSP00000495921.1:p.Val1548Asp
ENST00000646634.1:n.3464T>A
ENST00000646674.1:n.1901T>A
ENST00000647042.1:n.1872T>A
ENST00000647180.1:n.1762T>A
ENST00000219476.7:c.4649T>A	ENSP00000219476.3:p.Val1550Asp
ENST00000350773.8:c.4580T>A	ENSP00000344383.4:p.Val1527Asp
ENST00000382538.10:c.4304T>A	ENSP00000371978.6:p.Val1435Asp
ENST00000401874.6:c.4448T>A	ENSP00000384468.2:p.Val1483Asp
ENST00000439117.6:c.*3816T>A	ENSP00000406980.2:n.*3816T>A
ENST00000439673.6:c.4340T>A	ENSP00000399232.2:p.Val1447Asp
ENST00000497886.5:n.2407T>A
ENST00000568454.5:c.4481T>A	ENSP00000454487.1:p.Val1494Asp
ENST00000569110.1:c.831T>A
ENST00000569930.1:n.1764T>A
NM_000548.3:c.4649T>A , LRG_487t1:c.4649T>A	NP_000539.2:p.Val1550Asp
NM_001077183.1:c.4448T>A	NP_001070651.1:p.Val1483Asp
NM_001114382.1:c.4580T>A	NP_001107854.1:p.Val1527Asp
XM_005255529.3:c.4520T>A	XP_005255586.2:p.Val1507Asp
XM_005255531.3:c.4451T>A	XP_005255588.2:p.Val1484Asp
XM_011522636.1:c.4703T>A	XP_011520938.1:p.Val1568Asp
XM_011522637.1:c.4700T>A	XP_011520939.1:p.Val1567Asp
XM_011522638.1:c.4592T>A	XP_011520940.1:p.Val1531Asp
XM_011522639.1:c.4574T>A	XP_011520941.1:p.Val1525Asp
XM_011522640.1:c.4571T>A	XP_011520942.1:p.Val1524Asp
XM_011522641.1:c.4340T>A	XP_011520943.1:p.Val1447Asp
NM_000548.4:c.4649T>A	NP_000539.2:p.Val1550Asp
NM_001077183.2:c.4448T>A	NP_001070651.1:p.Val1483Asp
NM_001114382.2:c.4580T>A	NP_001107854.1:p.Val1527Asp
NM_001318827.1:c.4340T>A	NP_001305756.1:p.Val1447Asp
NM_001318829.1:c.4304T>A	NP_001305758.1:p.Val1435Asp
NM_001318831.1:c.3917T>A	NP_001305760.1:p.Val1306Asp
NM_001318832.1:c.4481T>A	NP_001305761.1:p.Val1494Asp
NM_001363528.1:c.4451T>A	NP_001350457.1:p.Val1484Asp
NM_021055.2:c.4520T>A	NP_066399.2:p.Val1507Asp
XM_005255531.4:c.4451T>A	XP_005255588.2:p.Val1484Asp
XM_011522636.2:c.4703T>A	XP_011520938.1:p.Val1568Asp
XM_011522637.2:c.4700T>A	XP_011520939.1:p.Val1567Asp
XM_011522638.2:c.4865T>A	XP_011520940.2:p.Val1622Asp
XM_011522639.2:c.4574T>A	XP_011520941.1:p.Val1525Asp
XM_011522640.2:c.4571T>A	XP_011520942.1:p.Val1524Asp
XM_017023615.1:c.4646T>A	XP_016879104.1:p.Val1549Asp
XM_017023616.1:c.4517T>A	XP_016879105.1:p.Val1506Asp
XM_017023617.1:c.4613T>A	XP_016879106.1:p.Val1538Asp
XM_017023618.1:c.3359T>A	XP_016879107.1:p.Val1120Asp
XM_024450413.1:c.4448T>A	XP_024306181.1:p.Val1483Asp
NM_000548.5:c.4649T>A MANE Select	NP_000539.2:p.Val1550Asp
NM_001370404.1:c.4517T>A	NP_001357333.1:p.Val1506Asp
NM_001370405.1:c.4520T>A	NP_001357334.1:p.Val1507Asp
NM_001077183.3:c.4448T>A	NP_001070651.1:p.Val1483Asp
NM_001114382.3:c.4580T>A	NP_001107854.1:p.Val1527Asp
NM_001318827.2:c.4340T>A	NP_001305756.1:p.Val1447Asp
NM_001318829.2:c.4304T>A	NP_001305758.1:p.Val1435Asp
NM_001318831.2:c.3917T>A	NP_001305760.1:p.Val1306Asp
NM_001318832.2:c.4481T>A	NP_001305761.1:p.Val1494Asp
NM_001363528.2:c.4451T>A	NP_001350457.1:p.Val1484Asp
NM_021055.3:c.4520T>A	NP_066399.2:p.Val1507Asp