Canonical Allele Identifier: CA2697549445

Gene: TSC2

Linked Data

• ClinVar Variation Id: 2710601
• ClinVar RCV Id: RCV003513061

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088463del , CM000678.2:g.2088463del	GRCh38
NC_000016.9:g.2138464del , CM000678.1:g.2138464del	GRCh37
NC_000016.8:g.2078465del	NCBI36
NG_005895.1:g.44158del , LRG_487:g.44158del
NG_008617.1:g.54759del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3626del	ENSP00000455997.2:n.*3626del
ENST00000642206.2:c.5124del	ENSP00000495146.2:p.Tyr1709ThrfsTer?
ENST00000642365.2:c.5274del	ENSP00000495459.2:p.Tyr1759ThrfsTer?
ENST00000644417.2:c.*5790del	ENSP00000493912.2:n.*5790del
ENST00000646464.2:c.*8026del	ENSP00000496610.2:n.*8026del
ENST00000219476.9:c.5277del MANE Select	ENSP00000219476.3:p.Tyr1760ThrfsTer?
ENST00000350773.9:c.5208del	ENSP00000344383.4:p.Tyr1737ThrfsTer?
ENST00000401874.7:c.5076del	ENSP00000384468.2:p.Tyr1693ThrfsTer?
ENST00000568454.6:c.5109del	ENSP00000454487.1:p.Tyr1704ThrfsTer?
ENST00000569110.2:c.1500del
ENST00000569930.2:n.3159del
ENST00000642365.1:c.3931del
ENST00000642561.1:c.5136del	ENSP00000495099.1:p.Tyr1713ThrfsTer?
ENST00000642791.1:n.874del
ENST00000642797.1:c.5079del	ENSP00000493846.1:p.Tyr1694ThrfsTer?
ENST00000642936.1:c.5145del	ENSP00000494514.1:p.Tyr1716ThrfsTer?
ENST00000643088.1:c.5070del	ENSP00000494747.1:p.Tyr1691ThrfsTer?
ENST00000643426.1:n.2925del
ENST00000643946.1:c.5202del	ENSP00000495927.1:p.Tyr1735ThrfsTer?
ENST00000644043.1:c.5148del	ENSP00000496262.1:p.Tyr1717ThrfsTer?
ENST00000644329.1:c.5163del	ENSP00000496611.1:p.Tyr1722ThrfsTer?
ENST00000644335.1:c.5073del	ENSP00000496317.1:p.Tyr1692ThrfsTer?
ENST00000644399.1:c.5198del
ENST00000645024.1:n.3361del
ENST00000646388.1:c.5271del	ENSP00000495921.1:p.Tyr1758ThrfsTer?
ENST00000646634.1:n.4092del
ENST00000646674.1:n.2529del
ENST00000647042.1:n.2500del
ENST00000647180.1:n.2390del
ENST00000219476.7:c.5277del	ENSP00000219476.3:p.Tyr1760ThrfsTer?
ENST00000350773.8:c.5208del	ENSP00000344383.4:p.Tyr1737ThrfsTer?
ENST00000382538.10:c.4932del	ENSP00000371978.6:p.Tyr1645ThrfsTer?
ENST00000401874.6:c.5076del	ENSP00000384468.2:p.Tyr1693ThrfsTer?
ENST00000439117.6:c.*4444del	ENSP00000406980.2:n.*4444del
ENST00000439673.6:c.4968del	ENSP00000399232.2:p.Tyr1657ThrfsTer?
ENST00000497886.5:n.3000del
ENST00000568454.5:c.5109del	ENSP00000454487.1:p.Tyr1704ThrfsTer?
ENST00000569110.1:c.1459del
ENST00000569930.1:n.2392del
NM_000548.3:c.5277del , LRG_487t1:c.5277del	NP_000539.2:p.Tyr1760ThrfsTer?
NM_001077183.1:c.5076del	NP_001070651.1:p.Tyr1693ThrfsTer?
NM_001114382.1:c.5208del	NP_001107854.1:p.Tyr1737ThrfsTer?
XM_005255529.3:c.5148del	XP_005255586.2:p.Tyr1717ThrfsTer?
XM_005255531.3:c.5079del	XP_005255588.2:p.Tyr1694ThrfsTer?
XM_011522636.1:c.5331del	XP_011520938.1:p.Tyr1778ThrfsTer?
XM_011522637.1:c.5328del	XP_011520939.1:p.Tyr1777ThrfsTer?
XM_011522638.1:c.5220del	XP_011520940.1:p.Tyr1741ThrfsTer?
XM_011522639.1:c.5202del	XP_011520941.1:p.Tyr1735ThrfsTer?
XM_011522640.1:c.5199del	XP_011520942.1:p.Tyr1734ThrfsTer?
XM_011522641.1:c.4968del	XP_011520943.1:p.Tyr1657ThrfsTer?
NM_000548.4:c.5277del	NP_000539.2:p.Tyr1760ThrfsTer?
NM_001077183.2:c.5076del	NP_001070651.1:p.Tyr1693ThrfsTer?
NM_001114382.2:c.5208del	NP_001107854.1:p.Tyr1737ThrfsTer?
NM_001318827.1:c.4968del	NP_001305756.1:p.Tyr1657ThrfsTer?
NM_001318829.1:c.4932del	NP_001305758.1:p.Tyr1645ThrfsTer?
NM_001318831.1:c.4545del	NP_001305760.1:p.Tyr1516ThrfsTer?
NM_001318832.1:c.5109del	NP_001305761.1:p.Tyr1704ThrfsTer?
NM_001363528.1:c.5079del	NP_001350457.1:p.Tyr1694ThrfsTer?
NM_021055.2:c.5148del	NP_066399.2:p.Tyr1717ThrfsTer?
XM_005255531.4:c.5079del	XP_005255588.2:p.Tyr1694ThrfsTer?
XM_011522636.2:c.5331del	XP_011520938.1:p.Tyr1778ThrfsTer?
XM_011522637.2:c.5328del	XP_011520939.1:p.Tyr1777ThrfsTer?
XM_011522638.2:c.5493del	XP_011520940.2:p.Tyr1832ThrfsTer?
XM_011522639.2:c.5202del	XP_011520941.1:p.Tyr1735ThrfsTer?
XM_011522640.2:c.5199del	XP_011520942.1:p.Tyr1734ThrfsTer?
XM_017023615.1:c.5274del	XP_016879104.1:p.Tyr1759ThrfsTer?
XM_017023616.1:c.5145del	XP_016879105.1:p.Tyr1716ThrfsTer?
XM_017023617.1:c.5241del	XP_016879106.1:p.Tyr1748ThrfsTer?
XM_017023618.1:c.3987del	XP_016879107.1:p.Tyr1330ThrfsTer?
XM_024450413.1:c.5163del	XP_024306181.1:p.Tyr1722ThrfsTer?
NM_000548.5:c.5277del MANE Select	NP_000539.2:p.Tyr1760ThrfsTer?
NM_001370404.1:c.5145del	NP_001357333.1:p.Tyr1716ThrfsTer?
NM_001370405.1:c.5136del	NP_001357334.1:p.Tyr1713ThrfsTer?
NM_001077183.3:c.5076del	NP_001070651.1:p.Tyr1693ThrfsTer?
NM_001114382.3:c.5208del	NP_001107854.1:p.Tyr1737ThrfsTer?
NM_001318827.2:c.4968del	NP_001305756.1:p.Tyr1657ThrfsTer?
NM_001318829.2:c.4932del	NP_001305758.1:p.Tyr1645ThrfsTer?
NM_001318831.2:c.4545del	NP_001305760.1:p.Tyr1516ThrfsTer?
NM_001318832.2:c.5109del	NP_001305761.1:p.Tyr1704ThrfsTer?
NM_001363528.2:c.5079del	NP_001350457.1:p.Tyr1694ThrfsTer?
NM_021055.3:c.5148del	NP_066399.2:p.Tyr1717ThrfsTer?