Canonical Allele Identifier: CA016409

Gene: TSC2

Linked Data

• ClinVar Variation Id: 49186
• ClinVar RCV Id: RCV000042442 ; RCV003511984
• dbSNP Id: rs137854310
• COSMIC: COSM4736816 ; COSM4736817
• MyVariant Identifiers: chr16:g.2121825del (hg19) ; chr16:g.2071824del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2071824del , CM000678.2:g.2071824del	GRCh38
NC_000016.9:g.2121825del , CM000678.1:g.2121825del	GRCh37
NC_000016.8:g.2061826del	NCBI36
NG_005895.1:g.27519del , LRG_487:g.27519del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*534del	ENSP00000455997.2:n.*534del
ENST00000642206.2:c.2032del	ENSP00000495146.2:p.Leu678PhefsTer?
ENST00000642365.2:c.1987del	ENSP00000495459.2:p.Leu663PhefsTer?
ENST00000644417.2:c.*1424del	ENSP00000493912.2:n.*1424del
ENST00000646464.2:c.*1592del	ENSP00000496610.2:n.*1592del
ENST00000219476.9:c.1987del MANE Select	ENSP00000219476.3:p.Leu663PhefsTer?
ENST00000350773.9:c.1987del	ENSP00000344383.4:p.Leu663PhefsTer?
ENST00000401874.7:c.1987del	ENSP00000384468.2:p.Leu663PhefsTer?
ENST00000563346.2:n.165del
ENST00000568454.6:c.2020del	ENSP00000454487.1:p.Leu674PhefsTer?
ENST00000642365.1:c.644del
ENST00000642561.1:c.1987del	ENSP00000495099.1:p.Leu663PhefsTer?
ENST00000642797.1:c.1987del	ENSP00000493846.1:p.Leu663PhefsTer?
ENST00000642936.1:c.1987del	ENSP00000494514.1:p.Leu663PhefsTer?
ENST00000643088.1:c.1987del	ENSP00000494747.1:p.Leu663PhefsTer?
ENST00000643298.1:c.*1489del	ENSP00000494393.1:n.*1489del
ENST00000643946.1:c.1987del	ENSP00000495927.1:p.Leu663PhefsTer?
ENST00000644043.1:c.1987del	ENSP00000496262.1:p.Leu663PhefsTer?
ENST00000644329.1:c.1987del	ENSP00000496611.1:p.Leu663PhefsTer?
ENST00000644335.1:c.1987del	ENSP00000496317.1:p.Leu663PhefsTer?
ENST00000644399.1:c.1980del
ENST00000644847.1:n.979del
ENST00000645024.1:n.269del
ENST00000645552.1:n.267del
ENST00000646388.1:c.1987del	ENSP00000495921.1:p.Leu663PhefsTer?
ENST00000646464.1:c.40del	ENSP00000496610.1:p.Leu14PhefsTer?
ENST00000646634.1:n.1000del
ENST00000219476.7:c.1987del	ENSP00000219476.3:p.Leu663PhefsTer?
ENST00000350773.8:c.1987del	ENSP00000344383.4:p.Leu663PhefsTer?
ENST00000382538.10:c.1840del	ENSP00000371978.6:p.Leu614PhefsTer?
ENST00000401874.6:c.1987del	ENSP00000384468.2:p.Leu663PhefsTer?
ENST00000439117.6:c.*1286del	ENSP00000406980.2:n.*1286del
ENST00000439673.6:c.1876del	ENSP00000399232.2:p.Leu626PhefsTer?
ENST00000488675.5:n.494del
ENST00000563346.1:n.56del
ENST00000568454.5:c.2020del	ENSP00000454487.1:p.Leu674PhefsTer?
NM_000548.3:c.1987del , LRG_487t1:c.1987del	NP_000539.2:p.Leu663PhefsTer?
NM_001077183.1:c.1987del	NP_001070651.1:p.Leu663PhefsTer?
NM_001114382.1:c.1987del	NP_001107854.1:p.Leu663PhefsTer?
XM_005255529.3:c.1987del	XP_005255586.2:p.Leu663PhefsTer?
XM_005255531.3:c.1987del	XP_005255588.2:p.Leu663PhefsTer?
XM_011522636.1:c.1987del	XP_011520938.1:p.Leu663PhefsTer?
XM_011522637.1:c.1987del	XP_011520939.1:p.Leu663PhefsTer?
XM_011522638.1:c.1876del	XP_011520940.1:p.Leu626PhefsTer?
XM_011522639.1:c.1987del	XP_011520941.1:p.Leu663PhefsTer?
XM_011522640.1:c.1987del	XP_011520942.1:p.Leu663PhefsTer?
XM_011522641.1:c.1876del	XP_011520943.1:p.Leu626PhefsTer?
NM_000548.4:c.1987del	NP_000539.2:p.Leu663PhefsTer?
NM_001077183.2:c.1987del	NP_001070651.1:p.Leu663PhefsTer?
NM_001114382.2:c.1987del	NP_001107854.1:p.Leu663PhefsTer?
NM_001318827.1:c.1876del	NP_001305756.1:p.Leu626PhefsTer?
NM_001318829.1:c.1840del	NP_001305758.1:p.Leu614PhefsTer?
NM_001318831.1:c.1387del	NP_001305760.1:p.Leu463PhefsTer?
NM_001318832.1:c.2020del	NP_001305761.1:p.Leu674PhefsTer?
NM_001363528.1:c.1987del	NP_001350457.1:p.Leu663PhefsTer?
NM_021055.2:c.1987del	NP_066399.2:p.Leu663PhefsTer?
XM_005255531.4:c.1987del	XP_005255588.2:p.Leu663PhefsTer?
XM_011522636.2:c.1987del	XP_011520938.1:p.Leu663PhefsTer?
XM_011522637.2:c.1987del	XP_011520939.1:p.Leu663PhefsTer?
XM_011522638.2:c.2149del	XP_011520940.2:p.Leu717PhefsTer?
XM_011522639.2:c.1987del	XP_011520941.1:p.Leu663PhefsTer?
XM_011522640.2:c.1987del	XP_011520942.1:p.Leu663PhefsTer?
XM_017023615.1:c.1987del	XP_016879104.1:p.Leu663PhefsTer?
XM_017023616.1:c.1987del	XP_016879105.1:p.Leu663PhefsTer?
XM_017023617.1:c.2149del	XP_016879106.1:p.Leu717PhefsTer?
XM_017023618.1:c.643del	XP_016879107.1:p.Leu215PhefsTer?
XM_024450413.1:c.1987del	XP_024306181.1:p.Leu663PhefsTer?
NM_000548.5:c.1987del MANE Select	NP_000539.2:p.Leu663PhefsTer?
NM_001370404.1:c.1987del	NP_001357333.1:p.Leu663PhefsTer?
NM_001370405.1:c.1987del	NP_001357334.1:p.Leu663PhefsTer?
NM_001077183.3:c.1987del	NP_001070651.1:p.Leu663PhefsTer?
NM_001114382.3:c.1987del	NP_001107854.1:p.Leu663PhefsTer?
NM_001318827.2:c.1876del	NP_001305756.1:p.Leu626PhefsTer?
NM_001318829.2:c.1840del	NP_001305758.1:p.Leu614PhefsTer?
NM_001318831.2:c.1387del	NP_001305760.1:p.Leu463PhefsTer?
NM_001318832.2:c.2020del	NP_001305761.1:p.Leu674PhefsTer?
NM_001363528.2:c.1987del	NP_001350457.1:p.Leu663PhefsTer?
NM_021055.3:c.1987del	NP_066399.2:p.Leu663PhefsTer?