Canonical Allele Identifier: CA022286

Gene: TSC2

Linked Data

• ClinVar Variation Id: 65145
• ClinVar RCV Id: RCV000055360
• dbSNP Id: rs397515109
• MyVariant Identifiers: chr16:g.2138314del (hg19) ; chr16:g.2088313del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088313del , CM000678.2:g.2088313del	GRCh38
NC_000016.9:g.2138314del , CM000678.1:g.2138314del	GRCh37
NC_000016.8:g.2078315del	NCBI36
NG_005895.1:g.44008del , LRG_487:g.44008del
NG_008617.1:g.54909del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3596del	ENSP00000455997.2:n.*3596del
ENST00000642206.2:c.5094del	ENSP00000495146.2:p.Leu1699SerfsTer?
ENST00000642365.2:c.5244del	ENSP00000495459.2:p.Leu1749SerfsTer?
ENST00000644417.2:c.*5760del	ENSP00000493912.2:n.*5760del
ENST00000646464.2:c.*7996del	ENSP00000496610.2:n.*7996del
ENST00000219476.9:c.5247del MANE Select	ENSP00000219476.3:p.Leu1750SerfsTer?
ENST00000350773.9:c.5178del	ENSP00000344383.4:p.Leu1727SerfsTer?
ENST00000401874.7:c.5046del	ENSP00000384468.2:p.Leu1683SerfsTer?
ENST00000568454.6:c.5079del	ENSP00000454487.1:p.Leu1694SerfsTer?
ENST00000569110.2:c.1470del
ENST00000569930.2:n.3129del
ENST00000642365.1:c.3901del
ENST00000642561.1:c.5106del	ENSP00000495099.1:p.Leu1703SerfsTer?
ENST00000642791.1:n.844del
ENST00000642797.1:c.5049del	ENSP00000493846.1:p.Leu1684SerfsTer?
ENST00000642936.1:c.5115del	ENSP00000494514.1:p.Leu1706SerfsTer?
ENST00000643088.1:c.5040del	ENSP00000494747.1:p.Leu1681SerfsTer?
ENST00000643426.1:n.2895del
ENST00000643946.1:c.5172del	ENSP00000495927.1:p.Leu1725SerfsTer?
ENST00000644043.1:c.5118del	ENSP00000496262.1:p.Leu1707SerfsTer?
ENST00000644329.1:c.5133del	ENSP00000496611.1:p.Leu1712SerfsTer?
ENST00000644335.1:c.5043del	ENSP00000496317.1:p.Leu1682SerfsTer?
ENST00000644399.1:c.5168del
ENST00000645024.1:n.3331del
ENST00000646388.1:c.5241del	ENSP00000495921.1:p.Leu1748SerfsTer?
ENST00000646634.1:n.4062del
ENST00000646674.1:n.2499del
ENST00000647042.1:n.2470del
ENST00000647180.1:n.2360del
ENST00000219476.7:c.5247del	ENSP00000219476.3:p.Leu1750SerfsTer?
ENST00000350773.8:c.5178del	ENSP00000344383.4:p.Leu1727SerfsTer?
ENST00000382538.10:c.4902del	ENSP00000371978.6:p.Leu1635SerfsTer?
ENST00000401874.6:c.5046del	ENSP00000384468.2:p.Leu1683SerfsTer?
ENST00000439117.6:c.*4414del	ENSP00000406980.2:n.*4414del
ENST00000439673.6:c.4938del	ENSP00000399232.2:p.Leu1647SerfsTer?
ENST00000497886.5:n.2970del
ENST00000568454.5:c.5079del	ENSP00000454487.1:p.Leu1694SerfsTer?
ENST00000569110.1:c.1429del
ENST00000569930.1:n.2362del
NM_000548.3:c.5247del , LRG_487t1:c.5247del	NP_000539.2:p.Leu1750SerfsTer?
NM_001077183.1:c.5046del	NP_001070651.1:p.Leu1683SerfsTer?
NM_001114382.1:c.5178del	NP_001107854.1:p.Leu1727SerfsTer?
XM_005255529.3:c.5118del	XP_005255586.2:p.Leu1707SerfsTer?
XM_005255531.3:c.5049del	XP_005255588.2:p.Leu1684SerfsTer?
XM_011522636.1:c.5301del	XP_011520938.1:p.Leu1768SerfsTer?
XM_011522637.1:c.5298del	XP_011520939.1:p.Leu1767SerfsTer?
XM_011522638.1:c.5190del	XP_011520940.1:p.Leu1731SerfsTer?
XM_011522639.1:c.5172del	XP_011520941.1:p.Leu1725SerfsTer?
XM_011522640.1:c.5169del	XP_011520942.1:p.Leu1724SerfsTer?
XM_011522641.1:c.4938del	XP_011520943.1:p.Leu1647SerfsTer?
NM_000548.4:c.5247del	NP_000539.2:p.Leu1750SerfsTer?
NM_001077183.2:c.5046del	NP_001070651.1:p.Leu1683SerfsTer?
NM_001114382.2:c.5178del	NP_001107854.1:p.Leu1727SerfsTer?
NM_001318827.1:c.4938del	NP_001305756.1:p.Leu1647SerfsTer?
NM_001318829.1:c.4902del	NP_001305758.1:p.Leu1635SerfsTer?
NM_001318831.1:c.4515del	NP_001305760.1:p.Leu1506SerfsTer?
NM_001318832.1:c.5079del	NP_001305761.1:p.Leu1694SerfsTer?
NM_001363528.1:c.5049del	NP_001350457.1:p.Leu1684SerfsTer?
NM_021055.2:c.5118del	NP_066399.2:p.Leu1707SerfsTer?
XM_005255531.4:c.5049del	XP_005255588.2:p.Leu1684SerfsTer?
XM_011522636.2:c.5301del	XP_011520938.1:p.Leu1768SerfsTer?
XM_011522637.2:c.5298del	XP_011520939.1:p.Leu1767SerfsTer?
XM_011522638.2:c.5463del	XP_011520940.2:p.Leu1822SerfsTer?
XM_011522639.2:c.5172del	XP_011520941.1:p.Leu1725SerfsTer?
XM_011522640.2:c.5169del	XP_011520942.1:p.Leu1724SerfsTer?
XM_017023615.1:c.5244del	XP_016879104.1:p.Leu1749SerfsTer?
XM_017023616.1:c.5115del	XP_016879105.1:p.Leu1706SerfsTer?
XM_017023617.1:c.5211del	XP_016879106.1:p.Leu1738SerfsTer?
XM_017023618.1:c.3957del	XP_016879107.1:p.Leu1320SerfsTer?
XM_024450413.1:c.5133del	XP_024306181.1:p.Leu1712SerfsTer?
NM_000548.5:c.5247del MANE Select	NP_000539.2:p.Leu1750SerfsTer?
NM_001370404.1:c.5115del	NP_001357333.1:p.Leu1706SerfsTer?
NM_001370405.1:c.5106del	NP_001357334.1:p.Leu1703SerfsTer?
NM_001077183.3:c.5046del	NP_001070651.1:p.Leu1683SerfsTer?
NM_001114382.3:c.5178del	NP_001107854.1:p.Leu1727SerfsTer?
NM_001318827.2:c.4938del	NP_001305756.1:p.Leu1647SerfsTer?
NM_001318829.2:c.4902del	NP_001305758.1:p.Leu1635SerfsTer?
NM_001318831.2:c.4515del	NP_001305760.1:p.Leu1506SerfsTer?
NM_001318832.2:c.5079del	NP_001305761.1:p.Leu1694SerfsTer?
NM_001363528.2:c.5049del	NP_001350457.1:p.Leu1684SerfsTer?
NM_021055.3:c.5118del	NP_066399.2:p.Leu1707SerfsTer?