Canonical Allele Identifier: CA493043716

Gene: TSC2

Linked Data

• ClinVar Variation Id: 825664
• ClinVar RCV Id: RCV001023951
• dbSNP Id: rs1455248686
• gnomAD v2: 16-2138527-T-C
• gnomAD v4: 16-2088526-T-C
• MyVariant Identifiers: chr16:g.2138527T>C (hg19) ; chr16:g.2088526T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088526T>C , CM000678.2:g.2088526T>C	GRCh38
NC_000016.9:g.2138527T>C , CM000678.1:g.2138527T>C	GRCh37
NC_000016.8:g.2078528T>C	NCBI36
NG_005895.1:g.44221T>C , LRG_487:g.44221T>C
NG_008617.1:g.54695A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*3689T>C	ENSP00000455997.2:n.*3689T>C
ENST00000642206.2:c.5187T>C	ENSP00000495146.2:p.Thr1729=
ENST00000642365.2:c.5337T>C	ENSP00000495459.2:p.Thr1779=
ENST00000644417.2:c.*5853T>C	ENSP00000493912.2:n.*5853T>C
ENST00000646464.2:c.*8089T>C	ENSP00000496610.2:n.*8089T>C
ENST00000219476.9:c.5340T>C MANE Select	ENSP00000219476.3:p.Thr1780=
ENST00000350773.9:c.5271T>C	ENSP00000344383.4:p.Thr1757=
ENST00000401874.7:c.5139T>C	ENSP00000384468.2:p.Thr1713=
ENST00000568454.6:c.5172T>C	ENSP00000454487.1:p.Thr1724=
ENST00000569110.2:c.1563T>C
ENST00000569930.2:n.3222T>C
ENST00000642365.1:c.3994T>C
ENST00000642561.1:c.5199T>C	ENSP00000495099.1:p.Thr1733=
ENST00000642791.1:n.937T>C
ENST00000642797.1:c.5142T>C	ENSP00000493846.1:p.Thr1714=
ENST00000642936.1:c.5208T>C	ENSP00000494514.1:p.Thr1736=
ENST00000643088.1:c.5133T>C	ENSP00000494747.1:p.Thr1711=
ENST00000643426.1:n.2988T>C
ENST00000643946.1:c.5265T>C	ENSP00000495927.1:p.Thr1755=
ENST00000644043.1:c.5211T>C	ENSP00000496262.1:p.Thr1737=
ENST00000644329.1:c.5226T>C	ENSP00000496611.1:p.Thr1742=
ENST00000644335.1:c.5136T>C	ENSP00000496317.1:p.Thr1712=
ENST00000644399.1:c.5261T>C
ENST00000645024.1:n.3424T>C
ENST00000646388.1:c.5334T>C	ENSP00000495921.1:p.Thr1778=
ENST00000646634.1:n.4155T>C
ENST00000646674.1:n.2592T>C
ENST00000647042.1:n.2563T>C
ENST00000647180.1:n.2453T>C
ENST00000219476.7:c.5340T>C	ENSP00000219476.3:p.Thr1780=
ENST00000350773.8:c.5271T>C	ENSP00000344383.4:p.Thr1757=
ENST00000382538.10:c.4995T>C	ENSP00000371978.6:p.Thr1665=
ENST00000401874.6:c.5139T>C	ENSP00000384468.2:p.Thr1713=
ENST00000439117.6:c.*4507T>C	ENSP00000406980.2:n.*4507T>C
ENST00000439673.6:c.5031T>C	ENSP00000399232.2:p.Thr1677=
ENST00000497886.5:n.3063T>C
ENST00000568454.5:c.5172T>C	ENSP00000454487.1:p.Thr1724=
ENST00000569110.1:c.1522T>C
ENST00000569930.1:n.2455T>C
NM_000548.3:c.5340T>C , LRG_487t1:c.5340T>C	NP_000539.2:p.Thr1780=
NM_001077183.1:c.5139T>C	NP_001070651.1:p.Thr1713=
NM_001114382.1:c.5271T>C	NP_001107854.1:p.Thr1757=
XM_005255529.3:c.5211T>C	XP_005255586.2:p.Thr1737=
XM_005255531.3:c.5142T>C	XP_005255588.2:p.Thr1714=
XM_011522636.1:c.5394T>C	XP_011520938.1:p.Thr1798=
XM_011522637.1:c.5391T>C	XP_011520939.1:p.Thr1797=
XM_011522638.1:c.5283T>C	XP_011520940.1:p.Thr1761=
XM_011522639.1:c.5265T>C	XP_011520941.1:p.Thr1755=
XM_011522640.1:c.5262T>C	XP_011520942.1:p.Thr1754=
XM_011522641.1:c.5031T>C	XP_011520943.1:p.Thr1677=
NM_000548.4:c.5340T>C	NP_000539.2:p.Thr1780=
NM_001077183.2:c.5139T>C	NP_001070651.1:p.Thr1713=
NM_001114382.2:c.5271T>C	NP_001107854.1:p.Thr1757=
NM_001318827.1:c.5031T>C	NP_001305756.1:p.Thr1677=
NM_001318829.1:c.4995T>C	NP_001305758.1:p.Thr1665=
NM_001318831.1:c.4608T>C	NP_001305760.1:p.Thr1536=
NM_001318832.1:c.5172T>C	NP_001305761.1:p.Thr1724=
NM_001363528.1:c.5142T>C	NP_001350457.1:p.Thr1714=
NM_021055.2:c.5211T>C	NP_066399.2:p.Thr1737=
XM_005255531.4:c.5142T>C	XP_005255588.2:p.Thr1714=
XM_011522636.2:c.5394T>C	XP_011520938.1:p.Thr1798=
XM_011522637.2:c.5391T>C	XP_011520939.1:p.Thr1797=
XM_011522638.2:c.5556T>C	XP_011520940.2:p.Thr1852=
XM_011522639.2:c.5265T>C	XP_011520941.1:p.Thr1755=
XM_011522640.2:c.5262T>C	XP_011520942.1:p.Thr1754=
XM_017023615.1:c.5337T>C	XP_016879104.1:p.Thr1779=
XM_017023616.1:c.5208T>C	XP_016879105.1:p.Thr1736=
XM_017023617.1:c.5304T>C	XP_016879106.1:p.Thr1768=
XM_017023618.1:c.4050T>C	XP_016879107.1:p.Thr1350=
XM_024450413.1:c.5226T>C	XP_024306181.1:p.Thr1742=
NM_000548.5:c.5340T>C MANE Select	NP_000539.2:p.Thr1780=
NM_001370404.1:c.5208T>C	NP_001357333.1:p.Thr1736=
NM_001370405.1:c.5199T>C	NP_001357334.1:p.Thr1733=
NM_001077183.3:c.5139T>C	NP_001070651.1:p.Thr1713=
NM_001114382.3:c.5271T>C	NP_001107854.1:p.Thr1757=
NM_001318827.2:c.5031T>C	NP_001305756.1:p.Thr1677=
NM_001318829.2:c.4995T>C	NP_001305758.1:p.Thr1665=
NM_001318831.2:c.4608T>C	NP_001305760.1:p.Thr1536=
NM_001318832.2:c.5172T>C	NP_001305761.1:p.Thr1724=
NM_001363528.2:c.5142T>C	NP_001350457.1:p.Thr1714=
NM_021055.3:c.5211T>C	NP_066399.2:p.Thr1737=