Canonical Allele Identifier: CA394308747

Gene: TSC2

Linked Data

• ClinVar Variation Id: 1019089
• ClinVar RCV Id: RCV001318474 ; RCV003382518
• dbSNP Id: rs2090863579
• gnomAD v4: 16-2086822-C-T
• MyVariant Identifiers: chr16:g.2136823C>T (hg19) ; chr16:g.2086822C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2086822C>T , CM000678.2:g.2086822C>T	GRCh38
NC_000016.9:g.2136823C>T , CM000678.1:g.2136823C>T	GRCh37
NC_000016.8:g.2076824C>T	NCBI36
NG_005895.1:g.42517C>T , LRG_487:g.42517C>T
NG_008617.1:g.56399G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*3289C>T	ENSP00000455997.2:n.*3289C>T
ENST00000642206.2:c.4787C>T	ENSP00000495146.2:p.Ser1596Phe
ENST00000642365.2:c.4937C>T	ENSP00000495459.2:p.Ser1646Phe
ENST00000644417.2:c.*5453C>T	ENSP00000493912.2:n.*5453C>T
ENST00000646464.2:c.*7689C>T	ENSP00000496610.2:n.*7689C>T
ENST00000219476.9:c.4940C>T MANE Select	ENSP00000219476.3:p.Ser1647Phe
ENST00000350773.9:c.4871C>T	ENSP00000344383.4:p.Ser1624Phe
ENST00000401874.7:c.4739C>T	ENSP00000384468.2:p.Ser1580Phe
ENST00000568454.6:c.4772C>T	ENSP00000454487.1:p.Ser1591Phe
ENST00000569110.2:c.1163C>T
ENST00000569930.2:n.2822C>T
ENST00000642365.1:c.3594C>T
ENST00000642561.1:c.4811C>T	ENSP00000495099.1:p.Ser1604Phe
ENST00000642728.1:n.1122C>T
ENST00000642791.1:n.537C>T
ENST00000642797.1:c.4742C>T	ENSP00000493846.1:p.Ser1581Phe
ENST00000642936.1:c.4808C>T	ENSP00000494514.1:p.Ser1603Phe
ENST00000643088.1:c.4733C>T	ENSP00000494747.1:p.Ser1578Phe
ENST00000643177.1:n.954C>T
ENST00000643426.1:n.2588C>T
ENST00000643946.1:c.4865C>T	ENSP00000495927.1:p.Ser1622Phe
ENST00000644043.1:c.4811C>T	ENSP00000496262.1:p.Ser1604Phe
ENST00000644278.1:n.422C>T
ENST00000644329.1:c.4739C>T	ENSP00000496611.1:p.Ser1580Phe
ENST00000644335.1:c.4736C>T	ENSP00000496317.1:p.Ser1579Phe
ENST00000644399.1:c.4861C>T
ENST00000645024.1:n.3024C>T
ENST00000646388.1:c.4934C>T	ENSP00000495921.1:p.Ser1645Phe
ENST00000646557.1:n.101C>T
ENST00000646634.1:n.3755C>T
ENST00000646674.1:n.2192C>T
ENST00000647042.1:n.2163C>T
ENST00000647180.1:n.2053C>T
ENST00000219476.7:c.4940C>T	ENSP00000219476.3:p.Ser1647Phe
ENST00000350773.8:c.4871C>T	ENSP00000344383.4:p.Ser1624Phe
ENST00000382538.10:c.4595C>T	ENSP00000371978.6:p.Ser1532Phe
ENST00000401874.6:c.4739C>T	ENSP00000384468.2:p.Ser1580Phe
ENST00000439117.6:c.*4107C>T	ENSP00000406980.2:n.*4107C>T
ENST00000439673.6:c.4631C>T	ENSP00000399232.2:p.Ser1544Phe
ENST00000497886.5:n.2663C>T
ENST00000568454.5:c.4772C>T	ENSP00000454487.1:p.Ser1591Phe
ENST00000569110.1:c.1122C>T
ENST00000569930.1:n.2055C>T
NM_000548.3:c.4940C>T , LRG_487t1:c.4940C>T	NP_000539.2:p.Ser1647Phe
NM_001077183.1:c.4739C>T	NP_001070651.1:p.Ser1580Phe
NM_001114382.1:c.4871C>T	NP_001107854.1:p.Ser1624Phe
XM_005255529.3:c.4811C>T	XP_005255586.2:p.Ser1604Phe
XM_005255531.3:c.4742C>T	XP_005255588.2:p.Ser1581Phe
XM_011522636.1:c.4994C>T	XP_011520938.1:p.Ser1665Phe
XM_011522637.1:c.4991C>T	XP_011520939.1:p.Ser1664Phe
XM_011522638.1:c.4883C>T	XP_011520940.1:p.Ser1628Phe
XM_011522639.1:c.4865C>T	XP_011520941.1:p.Ser1622Phe
XM_011522640.1:c.4862C>T	XP_011520942.1:p.Ser1621Phe
XM_011522641.1:c.4631C>T	XP_011520943.1:p.Ser1544Phe
NM_000548.4:c.4940C>T	NP_000539.2:p.Ser1647Phe
NM_001077183.2:c.4739C>T	NP_001070651.1:p.Ser1580Phe
NM_001114382.2:c.4871C>T	NP_001107854.1:p.Ser1624Phe
NM_001318827.1:c.4631C>T	NP_001305756.1:p.Ser1544Phe
NM_001318829.1:c.4595C>T	NP_001305758.1:p.Ser1532Phe
NM_001318831.1:c.4208C>T	NP_001305760.1:p.Ser1403Phe
NM_001318832.1:c.4772C>T	NP_001305761.1:p.Ser1591Phe
NM_001363528.1:c.4742C>T	NP_001350457.1:p.Ser1581Phe
NM_021055.2:c.4811C>T	NP_066399.2:p.Ser1604Phe
XM_005255531.4:c.4742C>T	XP_005255588.2:p.Ser1581Phe
XM_011522636.2:c.4994C>T	XP_011520938.1:p.Ser1665Phe
XM_011522637.2:c.4991C>T	XP_011520939.1:p.Ser1664Phe
XM_011522638.2:c.5156C>T	XP_011520940.2:p.Ser1719Phe
XM_011522639.2:c.4865C>T	XP_011520941.1:p.Ser1622Phe
XM_011522640.2:c.4862C>T	XP_011520942.1:p.Ser1621Phe
XM_017023615.1:c.4937C>T	XP_016879104.1:p.Ser1646Phe
XM_017023616.1:c.4808C>T	XP_016879105.1:p.Ser1603Phe
XM_017023617.1:c.4904C>T	XP_016879106.1:p.Ser1635Phe
XM_017023618.1:c.3650C>T	XP_016879107.1:p.Ser1217Phe
XM_024450413.1:c.4739C>T	XP_024306181.1:p.Ser1580Phe
NM_000548.5:c.4940C>T MANE Select	NP_000539.2:p.Ser1647Phe
NM_001370404.1:c.4808C>T	NP_001357333.1:p.Ser1603Phe
NM_001370405.1:c.4811C>T	NP_001357334.1:p.Ser1604Phe
NM_001077183.3:c.4739C>T	NP_001070651.1:p.Ser1580Phe
NM_001114382.3:c.4871C>T	NP_001107854.1:p.Ser1624Phe
NM_001318827.2:c.4631C>T	NP_001305756.1:p.Ser1544Phe
NM_001318829.2:c.4595C>T	NP_001305758.1:p.Ser1532Phe
NM_001318831.2:c.4208C>T	NP_001305760.1:p.Ser1403Phe
NM_001318832.2:c.4772C>T	NP_001305761.1:p.Ser1591Phe
NM_001363528.2:c.4742C>T	NP_001350457.1:p.Ser1581Phe
NM_021055.3:c.4811C>T	NP_066399.2:p.Ser1604Phe