Canonical Allele Identifier: CA645509207

Gene: TSC2

Linked Data

• ClinVar Variation Id: 438794
• ClinVar RCV Id: RCV000505584 ; RCV000660344
• dbSNP Id: rs1555508929
• COSMIC: COSM5702623 ; COSM5702624
• MyVariant Identifiers: chr16:g.2126513_2126514del (hg19) ; chr16:g.2076512_2076513del (hg38)
• PubMed: PMID:26822237

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2076512_2076513del , CM000678.2:g.2076512_2076513del	GRCh38
NC_000016.9:g.2126513_2126514del , CM000678.1:g.2126513_2126514del	GRCh37
NC_000016.8:g.2066514_2066515del	NCBI36
NG_005895.1:g.32207_32208del , LRG_487:g.32207_32208del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*1311_*1312del	ENSP00000455997.2:n.*1311_*1312del
ENST00000642206.2:c.2809_2810del	ENSP00000495146.2:p.Leu937ValfsTer3
ENST00000642365.2:c.2764_2765del	ENSP00000495459.2:p.Leu922ValfsTer3
ENST00000644417.2:c.*2201_*2202del	ENSP00000493912.2:n.*2201_*2202del
ENST00000646464.2:c.*3818_*3819del	ENSP00000496610.2:n.*3818_*3819del
ENST00000219476.9:c.2764_2765del MANE Select	ENSP00000219476.3:p.Leu922ValfsTer3
ENST00000350773.9:c.2764_2765del	ENSP00000344383.4:p.Leu922ValfsTer3
ENST00000401874.7:c.2764_2765del	ENSP00000384468.2:p.Leu922ValfsTer3
ENST00000471143.6:c.124_125del	ENSP00000458541.2:n.124_125del
ENST00000568454.6:c.2797_2798del	ENSP00000454487.1:p.Leu933ValfsTer3
ENST00000642365.1:c.1421_1422del
ENST00000642561.1:c.2764_2765del	ENSP00000495099.1:p.Leu922ValfsTer3
ENST00000642797.1:c.2764_2765del	ENSP00000493846.1:p.Leu922ValfsTer3
ENST00000642936.1:c.2764_2765del	ENSP00000494514.1:p.Leu922ValfsTer3
ENST00000643088.1:c.2764_2765del	ENSP00000494747.1:p.Leu922ValfsTer3
ENST00000643946.1:c.2764_2765del	ENSP00000495927.1:p.Leu922ValfsTer3
ENST00000644043.1:c.2764_2765del	ENSP00000496262.1:p.Leu922ValfsTer3
ENST00000644329.1:c.2764_2765del	ENSP00000496611.1:p.Leu922ValfsTer3
ENST00000644335.1:c.2764_2765del	ENSP00000496317.1:p.Leu922ValfsTer3
ENST00000644399.1:c.2757_2758del
ENST00000645024.1:n.1046_1047del
ENST00000645192.1:n.56_57del
ENST00000646388.1:c.2764_2765del	ENSP00000495921.1:p.Leu922ValfsTer3
ENST00000646634.1:n.1777_1778del
ENST00000219476.7:c.2764_2765del	ENSP00000219476.3:p.Leu922ValfsTer3
ENST00000350773.8:c.2764_2765del	ENSP00000344383.4:p.Leu922ValfsTer3
ENST00000382538.10:c.2617_2618del	ENSP00000371978.6:p.Leu873ValfsTer3
ENST00000401874.6:c.2764_2765del	ENSP00000384468.2:p.Leu922ValfsTer3
ENST00000439117.6:c.*2063_*2064del	ENSP00000406980.2:n.*2063_*2064del
ENST00000439673.6:c.2653_2654del	ENSP00000399232.2:p.Leu885ValfsTer3
ENST00000471143.5:c.122_123del
ENST00000483020.5:c.133_134del	ENSP00000460310.1:n.133_134del
ENST00000568454.5:c.2797_2798del	ENSP00000454487.1:p.Leu933ValfsTer3
NM_000548.3:c.2764_2765del , LRG_487t1:c.2764_2765del	NP_000539.2:p.Leu922ValfsTer3
NM_001077183.1:c.2764_2765del	NP_001070651.1:p.Leu922ValfsTer3
NM_001114382.1:c.2764_2765del	NP_001107854.1:p.Leu922ValfsTer3
XM_005255529.3:c.2764_2765del	XP_005255586.2:p.Leu922ValfsTer3
XM_005255531.3:c.2764_2765del	XP_005255588.2:p.Leu922ValfsTer3
XM_011522636.1:c.2764_2765del	XP_011520938.1:p.Leu922ValfsTer3
XM_011522637.1:c.2764_2765del	XP_011520939.1:p.Leu922ValfsTer3
XM_011522638.1:c.2653_2654del	XP_011520940.1:p.Leu885ValfsTer3
XM_011522639.1:c.2764_2765del	XP_011520941.1:p.Leu922ValfsTer3
XM_011522640.1:c.2764_2765del	XP_011520942.1:p.Leu922ValfsTer3
XM_011522641.1:c.2653_2654del	XP_011520943.1:p.Leu885ValfsTer3
NM_000548.4:c.2764_2765del	NP_000539.2:p.Leu922ValfsTer3
NM_001077183.2:c.2764_2765del	NP_001070651.1:p.Leu922ValfsTer3
NM_001114382.2:c.2764_2765del	NP_001107854.1:p.Leu922ValfsTer3
NM_001318827.1:c.2653_2654del	NP_001305756.1:p.Leu885ValfsTer3
NM_001318829.1:c.2617_2618del	NP_001305758.1:p.Leu873ValfsTer3
NM_001318831.1:c.2164_2165del	NP_001305760.1:p.Leu722ValfsTer3
NM_001318832.1:c.2797_2798del	NP_001305761.1:p.Leu933ValfsTer3
NM_001363528.1:c.2764_2765del	NP_001350457.1:p.Leu922ValfsTer3
NM_021055.2:c.2764_2765del	NP_066399.2:p.Leu922ValfsTer3
XM_005255531.4:c.2764_2765del	XP_005255588.2:p.Leu922ValfsTer3
XM_011522636.2:c.2764_2765del	XP_011520938.1:p.Leu922ValfsTer3
XM_011522637.2:c.2764_2765del	XP_011520939.1:p.Leu922ValfsTer3
XM_011522638.2:c.2926_2927del	XP_011520940.2:p.Leu976ValfsTer3
XM_011522639.2:c.2764_2765del	XP_011520941.1:p.Leu922ValfsTer3
XM_011522640.2:c.2764_2765del	XP_011520942.1:p.Leu922ValfsTer3
XM_017023615.1:c.2764_2765del	XP_016879104.1:p.Leu922ValfsTer3
XM_017023616.1:c.2764_2765del	XP_016879105.1:p.Leu922ValfsTer3
XM_017023617.1:c.2926_2927del	XP_016879106.1:p.Leu976ValfsTer3
XM_017023618.1:c.1420_1421del	XP_016879107.1:p.Leu474ValfsTer3
XM_024450413.1:c.2764_2765del	XP_024306181.1:p.Leu922ValfsTer3
NM_000548.5:c.2764_2765del MANE Select	NP_000539.2:p.Leu922ValfsTer3
NM_001370404.1:c.2764_2765del	NP_001357333.1:p.Leu922ValfsTer3
NM_001370405.1:c.2764_2765del	NP_001357334.1:p.Leu922ValfsTer3
NM_001077183.3:c.2764_2765del	NP_001070651.1:p.Leu922ValfsTer3
NM_001114382.3:c.2764_2765del	NP_001107854.1:p.Leu922ValfsTer3
NM_001318827.2:c.2653_2654del	NP_001305756.1:p.Leu885ValfsTer3
NM_001318829.2:c.2617_2618del	NP_001305758.1:p.Leu873ValfsTer3
NM_001318831.2:c.2164_2165del	NP_001305760.1:p.Leu722ValfsTer3
NM_001318832.2:c.2797_2798del	NP_001305761.1:p.Leu933ValfsTer3
NM_001363528.2:c.2764_2765del	NP_001350457.1:p.Leu922ValfsTer3
NM_021055.3:c.2764_2765del	NP_066399.2:p.Leu922ValfsTer3