Canonical Allele Identifier: CA017444

Gene: TSC2

Linked Data

• ClinVar Variation Id: 49592
• ClinVar RCV Id: RCV000042853 ; RCV000201194 ; RCV001260837
• dbSNP Id: rs137854128
• MyVariant Identifiers: chr16:g.2124304_2124306del (hg19) ; chr16:g.2074303_2074305del (hg38)
• PubMed: PMID:15798777 ; PMID:18302728 ; PMID:21309039

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2074303_2074305del , CM000678.2:g.2074303_2074305del	GRCh38
NC_000016.9:g.2124304_2124306del , CM000678.1:g.2124304_2124306del	GRCh37
NC_000016.8:g.2064305_2064307del	NCBI36
NG_005895.1:g.29998_30000del , LRG_487:g.29998_30000del

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*1006_*1008del	ENSP00000455997.2:n.*1006_*1008del
ENST00000642206.2:c.2504_2506del	ENSP00000495146.2:p.Ile835del
ENST00000642365.2:c.2459_2461del	ENSP00000495459.2:p.Ile820del
ENST00000644417.2:c.*1896_*1898del	ENSP00000493912.2:n.*1896_*1898del
ENST00000646464.2:c.*2104_*2106del	ENSP00000496610.2:n.*2104_*2106del
ENST00000219476.9:c.2459_2461del MANE Select	ENSP00000219476.3:p.Ile820del
ENST00000350773.9:c.2459_2461del	ENSP00000344383.4:p.Ile820del
ENST00000401874.7:c.2459_2461del	ENSP00000384468.2:p.Ile820del
ENST00000563346.2:n.637_639del
ENST00000568454.6:c.2492_2494del	ENSP00000454487.1:p.Ile831del
ENST00000642365.1:c.1116_1118del
ENST00000642561.1:c.2459_2461del	ENSP00000495099.1:p.Ile820del
ENST00000642797.1:c.2459_2461del	ENSP00000493846.1:p.Ile820del
ENST00000642936.1:c.2459_2461del	ENSP00000494514.1:p.Ile820del
ENST00000643088.1:c.2459_2461del	ENSP00000494747.1:p.Ile820del
ENST00000643298.1:c.*1961_*1963del	ENSP00000494393.1:n.*1961_*1963del
ENST00000643946.1:c.2459_2461del	ENSP00000495927.1:p.Ile820del
ENST00000644043.1:c.2459_2461del	ENSP00000496262.1:p.Ile820del
ENST00000644329.1:c.2459_2461del	ENSP00000496611.1:p.Ile820del
ENST00000644335.1:c.2459_2461del	ENSP00000496317.1:p.Ile820del
ENST00000644399.1:c.2452_2454del
ENST00000644847.1:n.1451_1453del
ENST00000645024.1:n.741_743del
ENST00000645552.1:n.739_741del
ENST00000646388.1:c.2459_2461del	ENSP00000495921.1:p.Ile820del
ENST00000646634.1:n.1472_1474del
ENST00000219476.7:c.2459_2461del	ENSP00000219476.3:p.Ile820del
ENST00000350773.8:c.2459_2461del	ENSP00000344383.4:p.Ile820del
ENST00000382538.10:c.2312_2314del	ENSP00000371978.6:p.Ile771del
ENST00000401874.6:c.2459_2461del	ENSP00000384468.2:p.Ile820del
ENST00000439117.6:c.*1758_*1760del	ENSP00000406980.2:n.*1758_*1760del
ENST00000439673.6:c.2348_2350del	ENSP00000399232.2:p.Ile783del
ENST00000463808.1:n.493_495del
ENST00000563346.1:n.528_530del
ENST00000568454.5:c.2492_2494del	ENSP00000454487.1:p.Ile831del
NM_000548.3:c.2459_2461del , LRG_487t1:c.2459_2461del	NP_000539.2:p.Ile820del
NM_001077183.1:c.2459_2461del	NP_001070651.1:p.Ile820del
NM_001114382.1:c.2459_2461del	NP_001107854.1:p.Ile820del
XM_005255529.3:c.2459_2461del	XP_005255586.2:p.Ile820del
XM_005255531.3:c.2459_2461del	XP_005255588.2:p.Ile820del
XM_011522636.1:c.2459_2461del	XP_011520938.1:p.Ile820del
XM_011522637.1:c.2459_2461del	XP_011520939.1:p.Ile820del
XM_011522638.1:c.2348_2350del	XP_011520940.1:p.Ile783del
XM_011522639.1:c.2459_2461del	XP_011520941.1:p.Ile820del
XM_011522640.1:c.2459_2461del	XP_011520942.1:p.Ile820del
XM_011522641.1:c.2348_2350del	XP_011520943.1:p.Ile783del
NM_000548.4:c.2459_2461del	NP_000539.2:p.Ile820del
NM_001077183.2:c.2459_2461del	NP_001070651.1:p.Ile820del
NM_001114382.2:c.2459_2461del	NP_001107854.1:p.Ile820del
NM_001318827.1:c.2348_2350del	NP_001305756.1:p.Ile783del
NM_001318829.1:c.2312_2314del	NP_001305758.1:p.Ile771del
NM_001318831.1:c.1859_1861del	NP_001305760.1:p.Ile620del
NM_001318832.1:c.2492_2494del	NP_001305761.1:p.Ile831del
NM_001363528.1:c.2459_2461del	NP_001350457.1:p.Ile820del
NM_021055.2:c.2459_2461del	NP_066399.2:p.Ile820del
XM_005255531.4:c.2459_2461del	XP_005255588.2:p.Ile820del
XM_011522636.2:c.2459_2461del	XP_011520938.1:p.Ile820del
XM_011522637.2:c.2459_2461del	XP_011520939.1:p.Ile820del
XM_011522638.2:c.2621_2623del	XP_011520940.2:p.Ile874del
XM_011522639.2:c.2459_2461del	XP_011520941.1:p.Ile820del
XM_011522640.2:c.2459_2461del	XP_011520942.1:p.Ile820del
XM_017023615.1:c.2459_2461del	XP_016879104.1:p.Ile820del
XM_017023616.1:c.2459_2461del	XP_016879105.1:p.Ile820del
XM_017023617.1:c.2621_2623del	XP_016879106.1:p.Ile874del
XM_017023618.1:c.1115_1117del	XP_016879107.1:p.Ile372del
XM_024450413.1:c.2459_2461del	XP_024306181.1:p.Ile820del
NM_000548.5:c.2459_2461del MANE Select	NP_000539.2:p.Ile820del
NM_001370404.1:c.2459_2461del	NP_001357333.1:p.Ile820del
NM_001370405.1:c.2459_2461del	NP_001357334.1:p.Ile820del
NM_001077183.3:c.2459_2461del	NP_001070651.1:p.Ile820del
NM_001114382.3:c.2459_2461del	NP_001107854.1:p.Ile820del
NM_001318827.2:c.2348_2350del	NP_001305756.1:p.Ile783del
NM_001318829.2:c.2312_2314del	NP_001305758.1:p.Ile771del
NM_001318831.2:c.1859_1861del	NP_001305760.1:p.Ile620del
NM_001318832.2:c.2492_2494del	NP_001305761.1:p.Ile831del
NM_001363528.2:c.2459_2461del	NP_001350457.1:p.Ile820del
NM_021055.3:c.2459_2461del	NP_066399.2:p.Ile820del