Canonical Allele Identifier: CA394308748

Gene: TSC2

Linked Data

• dbSNP Id: rs2090863579
• gnomAD v4: 16-2086822-C-A
• MyVariant Identifiers: chr16:g.2136823C>A (hg19) ; chr16:g.2086822C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*3289C>A	ENSP00000455997.2:n.*3289C>A
ENST00000642206.2:c.4787C>A	ENSP00000495146.2:p.Ser1596Tyr
ENST00000642365.2:c.4937C>A	ENSP00000495459.2:p.Ser1646Tyr
ENST00000644417.2:c.*5453C>A	ENSP00000493912.2:n.*5453C>A
ENST00000646464.2:c.*7689C>A	ENSP00000496610.2:n.*7689C>A
ENST00000219476.9:c.4940C>A MANE Select	ENSP00000219476.3:p.Ser1647Tyr
ENST00000350773.9:c.4871C>A	ENSP00000344383.4:p.Ser1624Tyr
ENST00000401874.7:c.4739C>A	ENSP00000384468.2:p.Ser1580Tyr
ENST00000568454.6:c.4772C>A	ENSP00000454487.1:p.Ser1591Tyr
ENST00000569110.2:c.1163C>A
ENST00000569930.2:n.2822C>A
ENST00000642365.1:c.3594C>A
ENST00000642561.1:c.4811C>A	ENSP00000495099.1:p.Ser1604Tyr
ENST00000642728.1:n.1122C>A
ENST00000642791.1:n.537C>A
ENST00000642797.1:c.4742C>A	ENSP00000493846.1:p.Ser1581Tyr
ENST00000642936.1:c.4808C>A	ENSP00000494514.1:p.Ser1603Tyr
ENST00000643088.1:c.4733C>A	ENSP00000494747.1:p.Ser1578Tyr
ENST00000643177.1:n.954C>A
ENST00000643426.1:n.2588C>A
ENST00000643946.1:c.4865C>A	ENSP00000495927.1:p.Ser1622Tyr
ENST00000644043.1:c.4811C>A	ENSP00000496262.1:p.Ser1604Tyr
ENST00000644278.1:n.422C>A
ENST00000644329.1:c.4739C>A	ENSP00000496611.1:p.Ser1580Tyr
ENST00000644335.1:c.4736C>A	ENSP00000496317.1:p.Ser1579Tyr
ENST00000644399.1:c.4861C>A
ENST00000645024.1:n.3024C>A
ENST00000646388.1:c.4934C>A	ENSP00000495921.1:p.Ser1645Tyr
ENST00000646557.1:n.101C>A
ENST00000646634.1:n.3755C>A
ENST00000646674.1:n.2192C>A
ENST00000647042.1:n.2163C>A
ENST00000647180.1:n.2053C>A
ENST00000219476.7:c.4940C>A	ENSP00000219476.3:p.Ser1647Tyr
ENST00000350773.8:c.4871C>A	ENSP00000344383.4:p.Ser1624Tyr
ENST00000382538.10:c.4595C>A	ENSP00000371978.6:p.Ser1532Tyr
ENST00000401874.6:c.4739C>A	ENSP00000384468.2:p.Ser1580Tyr
ENST00000439117.6:c.*4107C>A	ENSP00000406980.2:n.*4107C>A
ENST00000439673.6:c.4631C>A	ENSP00000399232.2:p.Ser1544Tyr
ENST00000497886.5:n.2663C>A
ENST00000568454.5:c.4772C>A	ENSP00000454487.1:p.Ser1591Tyr
ENST00000569110.1:c.1122C>A
ENST00000569930.1:n.2055C>A
NM_000548.3:c.4940C>A , LRG_487t1:c.4940C>A	NP_000539.2:p.Ser1647Tyr
NM_001077183.1:c.4739C>A	NP_001070651.1:p.Ser1580Tyr
NM_001114382.1:c.4871C>A	NP_001107854.1:p.Ser1624Tyr
XM_005255529.3:c.4811C>A	XP_005255586.2:p.Ser1604Tyr
XM_005255531.3:c.4742C>A	XP_005255588.2:p.Ser1581Tyr
XM_011522636.1:c.4994C>A	XP_011520938.1:p.Ser1665Tyr
XM_011522637.1:c.4991C>A	XP_011520939.1:p.Ser1664Tyr
XM_011522638.1:c.4883C>A	XP_011520940.1:p.Ser1628Tyr
XM_011522639.1:c.4865C>A	XP_011520941.1:p.Ser1622Tyr
XM_011522640.1:c.4862C>A	XP_011520942.1:p.Ser1621Tyr
XM_011522641.1:c.4631C>A	XP_011520943.1:p.Ser1544Tyr
NM_000548.4:c.4940C>A	NP_000539.2:p.Ser1647Tyr
NM_001077183.2:c.4739C>A	NP_001070651.1:p.Ser1580Tyr
NM_001114382.2:c.4871C>A	NP_001107854.1:p.Ser1624Tyr
NM_001318827.1:c.4631C>A	NP_001305756.1:p.Ser1544Tyr
NM_001318829.1:c.4595C>A	NP_001305758.1:p.Ser1532Tyr
NM_001318831.1:c.4208C>A	NP_001305760.1:p.Ser1403Tyr
NM_001318832.1:c.4772C>A	NP_001305761.1:p.Ser1591Tyr
NM_001363528.1:c.4742C>A	NP_001350457.1:p.Ser1581Tyr
NM_021055.2:c.4811C>A	NP_066399.2:p.Ser1604Tyr
XM_005255531.4:c.4742C>A	XP_005255588.2:p.Ser1581Tyr
XM_011522636.2:c.4994C>A	XP_011520938.1:p.Ser1665Tyr
XM_011522637.2:c.4991C>A	XP_011520939.1:p.Ser1664Tyr
XM_011522638.2:c.5156C>A	XP_011520940.2:p.Ser1719Tyr
XM_011522639.2:c.4865C>A	XP_011520941.1:p.Ser1622Tyr
XM_011522640.2:c.4862C>A	XP_011520942.1:p.Ser1621Tyr
XM_017023615.1:c.4937C>A	XP_016879104.1:p.Ser1646Tyr
XM_017023616.1:c.4808C>A	XP_016879105.1:p.Ser1603Tyr
XM_017023617.1:c.4904C>A	XP_016879106.1:p.Ser1635Tyr
XM_017023618.1:c.3650C>A	XP_016879107.1:p.Ser1217Tyr
XM_024450413.1:c.4739C>A	XP_024306181.1:p.Ser1580Tyr
NM_000548.5:c.4940C>A MANE Select	NP_000539.2:p.Ser1647Tyr
NM_001370404.1:c.4808C>A	NP_001357333.1:p.Ser1603Tyr
NM_001370405.1:c.4811C>A	NP_001357334.1:p.Ser1604Tyr
NM_001077183.3:c.4739C>A	NP_001070651.1:p.Ser1580Tyr
NM_001114382.3:c.4871C>A	NP_001107854.1:p.Ser1624Tyr
NM_001318827.2:c.4631C>A	NP_001305756.1:p.Ser1544Tyr
NM_001318829.2:c.4595C>A	NP_001305758.1:p.Ser1532Tyr
NM_001318831.2:c.4208C>A	NP_001305760.1:p.Ser1403Tyr
NM_001318832.2:c.4772C>A	NP_001305761.1:p.Ser1591Tyr
NM_001363528.2:c.4742C>A	NP_001350457.1:p.Ser1581Tyr
NM_021055.3:c.4811C>A	NP_066399.2:p.Ser1604Tyr