Canonical Allele Identifier: CA394308678

Gene: TSC2

Linked Data

• ClinVar Variation Id: 825308
• ClinVar RCV Id: RCV001023292 ; RCV001201886
• dbSNP Id: rs1596443758
• gnomAD v4: 16-2086815-T-C
• MyVariant Identifiers: chr16:g.2136816T>C (hg19) ; chr16:g.2086815T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2086815T>C , CM000678.2:g.2086815T>C	GRCh38
NC_000016.9:g.2136816T>C , CM000678.1:g.2136816T>C	GRCh37
NC_000016.8:g.2076817T>C	NCBI36
NG_005895.1:g.42510T>C , LRG_487:g.42510T>C
NG_008617.1:g.56406A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*3282T>C	ENSP00000455997.2:n.*3282T>C
ENST00000642206.2:c.4780T>C	ENSP00000495146.2:p.Phe1594Leu
ENST00000642365.2:c.4930T>C	ENSP00000495459.2:p.Phe1644Leu
ENST00000644417.2:c.*5446T>C	ENSP00000493912.2:n.*5446T>C
ENST00000646464.2:c.*7682T>C	ENSP00000496610.2:n.*7682T>C
ENST00000219476.9:c.4933T>C MANE Select	ENSP00000219476.3:p.Phe1645Leu
ENST00000350773.9:c.4864T>C	ENSP00000344383.4:p.Phe1622Leu
ENST00000401874.7:c.4732T>C	ENSP00000384468.2:p.Phe1578Leu
ENST00000568454.6:c.4765T>C	ENSP00000454487.1:p.Phe1589Leu
ENST00000569110.2:c.1156T>C
ENST00000569930.2:n.2815T>C
ENST00000642365.1:c.3587T>C
ENST00000642561.1:c.4804T>C	ENSP00000495099.1:p.Phe1602Leu
ENST00000642728.1:n.1115T>C
ENST00000642791.1:n.530T>C
ENST00000642797.1:c.4735T>C	ENSP00000493846.1:p.Phe1579Leu
ENST00000642936.1:c.4801T>C	ENSP00000494514.1:p.Phe1601Leu
ENST00000643088.1:c.4726T>C	ENSP00000494747.1:p.Phe1576Leu
ENST00000643177.1:n.947T>C
ENST00000643426.1:n.2581T>C
ENST00000643946.1:c.4858T>C	ENSP00000495927.1:p.Phe1620Leu
ENST00000644043.1:c.4804T>C	ENSP00000496262.1:p.Phe1602Leu
ENST00000644278.1:n.415T>C
ENST00000644329.1:c.4732T>C	ENSP00000496611.1:p.Phe1578Leu
ENST00000644335.1:c.4729T>C	ENSP00000496317.1:p.Phe1577Leu
ENST00000644399.1:c.4854T>C
ENST00000645024.1:n.3017T>C
ENST00000646388.1:c.4927T>C	ENSP00000495921.1:p.Phe1643Leu
ENST00000646557.1:n.94T>C
ENST00000646634.1:n.3748T>C
ENST00000646674.1:n.2185T>C
ENST00000647042.1:n.2156T>C
ENST00000647180.1:n.2046T>C
ENST00000219476.7:c.4933T>C	ENSP00000219476.3:p.Phe1645Leu
ENST00000350773.8:c.4864T>C	ENSP00000344383.4:p.Phe1622Leu
ENST00000382538.10:c.4588T>C	ENSP00000371978.6:p.Phe1530Leu
ENST00000401874.6:c.4732T>C	ENSP00000384468.2:p.Phe1578Leu
ENST00000439117.6:c.*4100T>C	ENSP00000406980.2:n.*4100T>C
ENST00000439673.6:c.4624T>C	ENSP00000399232.2:p.Phe1542Leu
ENST00000497886.5:n.2656T>C
ENST00000568454.5:c.4765T>C	ENSP00000454487.1:p.Phe1589Leu
ENST00000569110.1:c.1115T>C
ENST00000569930.1:n.2048T>C
NM_000548.3:c.4933T>C , LRG_487t1:c.4933T>C	NP_000539.2:p.Phe1645Leu
NM_001077183.1:c.4732T>C	NP_001070651.1:p.Phe1578Leu
NM_001114382.1:c.4864T>C	NP_001107854.1:p.Phe1622Leu
XM_005255529.3:c.4804T>C	XP_005255586.2:p.Phe1602Leu
XM_005255531.3:c.4735T>C	XP_005255588.2:p.Phe1579Leu
XM_011522636.1:c.4987T>C	XP_011520938.1:p.Phe1663Leu
XM_011522637.1:c.4984T>C	XP_011520939.1:p.Phe1662Leu
XM_011522638.1:c.4876T>C	XP_011520940.1:p.Phe1626Leu
XM_011522639.1:c.4858T>C	XP_011520941.1:p.Phe1620Leu
XM_011522640.1:c.4855T>C	XP_011520942.1:p.Phe1619Leu
XM_011522641.1:c.4624T>C	XP_011520943.1:p.Phe1542Leu
NM_000548.4:c.4933T>C	NP_000539.2:p.Phe1645Leu
NM_001077183.2:c.4732T>C	NP_001070651.1:p.Phe1578Leu
NM_001114382.2:c.4864T>C	NP_001107854.1:p.Phe1622Leu
NM_001318827.1:c.4624T>C	NP_001305756.1:p.Phe1542Leu
NM_001318829.1:c.4588T>C	NP_001305758.1:p.Phe1530Leu
NM_001318831.1:c.4201T>C	NP_001305760.1:p.Phe1401Leu
NM_001318832.1:c.4765T>C	NP_001305761.1:p.Phe1589Leu
NM_001363528.1:c.4735T>C	NP_001350457.1:p.Phe1579Leu
NM_021055.2:c.4804T>C	NP_066399.2:p.Phe1602Leu
XM_005255531.4:c.4735T>C	XP_005255588.2:p.Phe1579Leu
XM_011522636.2:c.4987T>C	XP_011520938.1:p.Phe1663Leu
XM_011522637.2:c.4984T>C	XP_011520939.1:p.Phe1662Leu
XM_011522638.2:c.5149T>C	XP_011520940.2:p.Phe1717Leu
XM_011522639.2:c.4858T>C	XP_011520941.1:p.Phe1620Leu
XM_011522640.2:c.4855T>C	XP_011520942.1:p.Phe1619Leu
XM_017023615.1:c.4930T>C	XP_016879104.1:p.Phe1644Leu
XM_017023616.1:c.4801T>C	XP_016879105.1:p.Phe1601Leu
XM_017023617.1:c.4897T>C	XP_016879106.1:p.Phe1633Leu
XM_017023618.1:c.3643T>C	XP_016879107.1:p.Phe1215Leu
XM_024450413.1:c.4732T>C	XP_024306181.1:p.Phe1578Leu
NM_000548.5:c.4933T>C MANE Select	NP_000539.2:p.Phe1645Leu
NM_001370404.1:c.4801T>C	NP_001357333.1:p.Phe1601Leu
NM_001370405.1:c.4804T>C	NP_001357334.1:p.Phe1602Leu
NM_001077183.3:c.4732T>C	NP_001070651.1:p.Phe1578Leu
NM_001114382.3:c.4864T>C	NP_001107854.1:p.Phe1622Leu
NM_001318827.2:c.4624T>C	NP_001305756.1:p.Phe1542Leu
NM_001318829.2:c.4588T>C	NP_001305758.1:p.Phe1530Leu
NM_001318831.2:c.4201T>C	NP_001305760.1:p.Phe1401Leu
NM_001318832.2:c.4765T>C	NP_001305761.1:p.Phe1589Leu
NM_001363528.2:c.4735T>C	NP_001350457.1:p.Phe1579Leu
NM_021055.3:c.4804T>C	NP_066399.2:p.Phe1602Leu