Canonical Allele Identifier: CA2573054159

Gene: TSC2

Linked Data

• ClinVar Variation Id: 1319400
• ClinVar RCV Id: RCV003238697
• dbSNP Id: rs2151306395

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2071861_2071871del , CM000678.2:g.2071861_2071871del	GRCh38
NC_000016.9:g.2121862_2121872del , CM000678.1:g.2121862_2121872del	GRCh37
NC_000016.8:g.2061863_2061873del	NCBI36
NG_005895.1:g.27556_27566del , LRG_487:g.27556_27566del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*571_*581del	ENSP00000455997.2:n.*571_*581del
ENST00000642206.2:c.2069_2079del	ENSP00000495146.2:p.Ala690GlyfsTer24
ENST00000642365.2:c.2024_2034del	ENSP00000495459.2:p.Ala675GlyfsTer24
ENST00000644417.2:c.*1461_*1471del	ENSP00000493912.2:n.*1461_*1471del
ENST00000646464.2:c.*1629_*1639del	ENSP00000496610.2:n.*1629_*1639del
ENST00000219476.9:c.2024_2034del MANE Select	ENSP00000219476.3:p.Ala675GlyfsTer24
ENST00000350773.9:c.2024_2034del	ENSP00000344383.4:p.Ala675GlyfsTer24
ENST00000401874.7:c.2024_2034del	ENSP00000384468.2:p.Ala675GlyfsTer24
ENST00000563346.2:n.202_212del
ENST00000568454.6:c.2057_2067del	ENSP00000454487.1:p.Ala686GlyfsTer24
ENST00000642365.1:c.681_691del
ENST00000642561.1:c.2024_2034del	ENSP00000495099.1:p.Ala675GlyfsTer24
ENST00000642797.1:c.2024_2034del	ENSP00000493846.1:p.Ala675GlyfsTer24
ENST00000642936.1:c.2024_2034del	ENSP00000494514.1:p.Ala675GlyfsTer24
ENST00000643088.1:c.2024_2034del	ENSP00000494747.1:p.Ala675GlyfsTer24
ENST00000643298.1:c.*1526_*1536del	ENSP00000494393.1:n.*1526_*1536del
ENST00000643946.1:c.2024_2034del	ENSP00000495927.1:p.Ala675GlyfsTer24
ENST00000644043.1:c.2024_2034del	ENSP00000496262.1:p.Ala675GlyfsTer24
ENST00000644329.1:c.2024_2034del	ENSP00000496611.1:p.Ala675GlyfsTer24
ENST00000644335.1:c.2024_2034del	ENSP00000496317.1:p.Ala675GlyfsTer24
ENST00000644399.1:c.2017_2027del
ENST00000644847.1:n.1016_1026del
ENST00000645024.1:n.306_316del
ENST00000645552.1:n.304_314del
ENST00000646388.1:c.2024_2034del	ENSP00000495921.1:p.Ala675GlyfsTer24
ENST00000646464.1:c.77_87del	ENSP00000496610.1:p.Ala26GlyfsTer?
ENST00000646634.1:n.1037_1047del
ENST00000219476.7:c.2024_2034del	ENSP00000219476.3:p.Ala675GlyfsTer24
ENST00000350773.8:c.2024_2034del	ENSP00000344383.4:p.Ala675GlyfsTer24
ENST00000382538.10:c.1877_1887del	ENSP00000371978.6:p.Ala626GlyfsTer24
ENST00000401874.6:c.2024_2034del	ENSP00000384468.2:p.Ala675GlyfsTer24
ENST00000439117.6:c.*1323_*1333del	ENSP00000406980.2:n.*1323_*1333del
ENST00000439673.6:c.1913_1923del	ENSP00000399232.2:p.Ala638GlyfsTer24
ENST00000488675.5:n.531_541del
ENST00000563346.1:n.93_103del
ENST00000568454.5:c.2057_2067del	ENSP00000454487.1:p.Ala686GlyfsTer24
NM_000548.3:c.2024_2034del , LRG_487t1:c.2024_2034del	NP_000539.2:p.Ala675GlyfsTer24
NM_001077183.1:c.2024_2034del	NP_001070651.1:p.Ala675GlyfsTer24
NM_001114382.1:c.2024_2034del	NP_001107854.1:p.Ala675GlyfsTer24
XM_005255529.3:c.2024_2034del	XP_005255586.2:p.Ala675GlyfsTer24
XM_005255531.3:c.2024_2034del	XP_005255588.2:p.Ala675GlyfsTer24
XM_011522636.1:c.2024_2034del	XP_011520938.1:p.Ala675GlyfsTer24
XM_011522637.1:c.2024_2034del	XP_011520939.1:p.Ala675GlyfsTer24
XM_011522638.1:c.1913_1923del	XP_011520940.1:p.Ala638GlyfsTer24
XM_011522639.1:c.2024_2034del	XP_011520941.1:p.Ala675GlyfsTer24
XM_011522640.1:c.2024_2034del	XP_011520942.1:p.Ala675GlyfsTer24
XM_011522641.1:c.1913_1923del	XP_011520943.1:p.Ala638GlyfsTer24
NM_000548.4:c.2024_2034del	NP_000539.2:p.Ala675GlyfsTer24
NM_001077183.2:c.2024_2034del	NP_001070651.1:p.Ala675GlyfsTer24
NM_001114382.2:c.2024_2034del	NP_001107854.1:p.Ala675GlyfsTer24
NM_001318827.1:c.1913_1923del	NP_001305756.1:p.Ala638GlyfsTer24
NM_001318829.1:c.1877_1887del	NP_001305758.1:p.Ala626GlyfsTer24
NM_001318831.1:c.1424_1434del	NP_001305760.1:p.Ala475GlyfsTer24
NM_001318832.1:c.2057_2067del	NP_001305761.1:p.Ala686GlyfsTer24
NM_001363528.1:c.2024_2034del	NP_001350457.1:p.Ala675GlyfsTer24
NM_021055.2:c.2024_2034del	NP_066399.2:p.Ala675GlyfsTer24
XM_005255531.4:c.2024_2034del	XP_005255588.2:p.Ala675GlyfsTer24
XM_011522636.2:c.2024_2034del	XP_011520938.1:p.Ala675GlyfsTer24
XM_011522637.2:c.2024_2034del	XP_011520939.1:p.Ala675GlyfsTer24
XM_011522638.2:c.2186_2196del	XP_011520940.2:p.Ala729GlyfsTer24
XM_011522639.2:c.2024_2034del	XP_011520941.1:p.Ala675GlyfsTer24
XM_011522640.2:c.2024_2034del	XP_011520942.1:p.Ala675GlyfsTer24
XM_017023615.1:c.2024_2034del	XP_016879104.1:p.Ala675GlyfsTer24
XM_017023616.1:c.2024_2034del	XP_016879105.1:p.Ala675GlyfsTer24
XM_017023617.1:c.2186_2196del	XP_016879106.1:p.Ala729GlyfsTer24
XM_017023618.1:c.680_690del	XP_016879107.1:p.Ala227GlyfsTer24
XM_024450413.1:c.2024_2034del	XP_024306181.1:p.Ala675GlyfsTer24
NM_000548.5:c.2024_2034del MANE Select	NP_000539.2:p.Ala675GlyfsTer24
NM_001370404.1:c.2024_2034del	NP_001357333.1:p.Ala675GlyfsTer24
NM_001370405.1:c.2024_2034del	NP_001357334.1:p.Ala675GlyfsTer24
NM_001077183.3:c.2024_2034del	NP_001070651.1:p.Ala675GlyfsTer24
NM_001114382.3:c.2024_2034del	NP_001107854.1:p.Ala675GlyfsTer24
NM_001318827.2:c.1913_1923del	NP_001305756.1:p.Ala638GlyfsTer24
NM_001318829.2:c.1877_1887del	NP_001305758.1:p.Ala626GlyfsTer24
NM_001318831.2:c.1424_1434del	NP_001305760.1:p.Ala475GlyfsTer24
NM_001318832.2:c.2057_2067del	NP_001305761.1:p.Ala686GlyfsTer24
NM_001363528.2:c.2024_2034del	NP_001350457.1:p.Ala675GlyfsTer24
NM_021055.3:c.2024_2034del	NP_066399.2:p.Ala675GlyfsTer24