Canonical Allele Identifier: CA015026

Gene: TSC2

Linked Data

• ClinVar Variation Id: 12396
• ClinVar RCV Id: RCV000013204 ; RCV000055539 ; RCV000043399 ; RCV000517734 ; RCV000768350 ; RCV002390103
• dbSNP Id: rs45517179
• COSMIC: COSM1636655 ; COSM5900331
• MyVariant Identifiers: chr16:g.2114342C>T (hg19) ; chr16:g.2064341C>T (hg38)
• PubMed: PMID:8824881 ; PMID:9463313 ; PMID:10205261 ; PMID:10533066 ; PMID:10577937 ; PMID:11112665 ; PMID:15072102 ; PMID:16114042 ; PMID:16981987 ; PMID:17304050 ; PMID:23504366 ; PMID:24271014

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2064341C>T , CM000678.2:g.2064341C>T	GRCh38
NC_000016.9:g.2114342C>T , CM000678.1:g.2114342C>T	GRCh37
NC_000016.8:g.2054343C>T	NCBI36
NG_005895.1:g.20036C>T , LRG_487:g.20036C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*60C>T	ENSP00000455997.2:n.*60C>T
ENST00000642206.2:c.1558C>T	ENSP00000495146.2:p.Arg520Ter
ENST00000642365.2:c.1513C>T	ENSP00000495459.2:p.Arg505Ter
ENST00000644417.2:c.*950C>T	ENSP00000493912.2:n.*950C>T
ENST00000646464.2:c.*1118C>T	ENSP00000496610.2:n.*1118C>T
ENST00000219476.9:c.1513C>T MANE Select	ENSP00000219476.3:p.Arg505Ter
ENST00000350773.9:c.1513C>T	ENSP00000344383.4:p.Arg505Ter
ENST00000401874.7:c.1513C>T	ENSP00000384468.2:p.Arg505Ter
ENST00000463601.2:n.1641C>T
ENST00000568454.6:c.1546C>T	ENSP00000454487.1:p.Arg516Ter
ENST00000642365.1:c.170C>T
ENST00000642561.1:c.1513C>T	ENSP00000495099.1:p.Arg505Ter
ENST00000642797.1:c.1513C>T	ENSP00000493846.1:p.Arg505Ter
ENST00000642812.1:n.1558C>T
ENST00000642936.1:c.1513C>T	ENSP00000494514.1:p.Arg505Ter
ENST00000643088.1:c.1513C>T	ENSP00000494747.1:p.Arg505Ter
ENST00000643149.1:n.3523C>T
ENST00000643298.1:c.*1015C>T	ENSP00000494393.1:n.*1015C>T
ENST00000643745.1:c.*445C>T	ENSP00000495948.1:n.*445C>T
ENST00000643946.1:c.1513C>T	ENSP00000495927.1:p.Arg505Ter
ENST00000644043.1:c.1513C>T	ENSP00000496262.1:p.Arg505Ter
ENST00000644135.1:c.1513C>T	ENSP00000495644.1:p.Arg505Ter
ENST00000644222.1:n.1600C>T
ENST00000644329.1:c.1513C>T	ENSP00000496611.1:p.Arg505Ter
ENST00000644335.1:c.1513C>T	ENSP00000496317.1:p.Arg505Ter
ENST00000644399.1:c.1506C>T
ENST00000644665.1:n.2687C>T
ENST00000644847.1:n.505C>T
ENST00000645591.1:n.2571C>T
ENST00000646388.1:c.1513C>T	ENSP00000495921.1:p.Arg505Ter
ENST00000646634.1:n.526C>T
ENST00000647234.1:n.3271C>T
ENST00000647242.1:n.2149C>T
ENST00000219476.7:c.1513C>T	ENSP00000219476.3:p.Arg505Ter
ENST00000350773.8:c.1513C>T	ENSP00000344383.4:p.Arg505Ter
ENST00000382538.10:c.1366C>T	ENSP00000371978.6:p.Arg456Ter
ENST00000401874.6:c.1513C>T	ENSP00000384468.2:p.Arg505Ter
ENST00000439117.6:c.*812C>T	ENSP00000406980.2:n.*812C>T
ENST00000439673.6:c.1402C>T	ENSP00000399232.2:p.Arg468Ter
ENST00000490108.1:n.286C>T
ENST00000568238.1:n.271C>T
ENST00000568454.5:c.1546C>T	ENSP00000454487.1:p.Arg516Ter
ENST00000568566.5:c.153C>T	ENSP00000455997.1:n.153C>T
NM_000548.3:c.1513C>T , LRG_487t1:c.1513C>T	NP_000539.2:p.Arg505Ter
NM_001077183.1:c.1513C>T	NP_001070651.1:p.Arg505Ter
NM_001114382.1:c.1513C>T	NP_001107854.1:p.Arg505Ter
XM_005255529.3:c.1513C>T	XP_005255586.2:p.Arg505Ter
XM_005255531.3:c.1513C>T	XP_005255588.2:p.Arg505Ter
XM_011522636.1:c.1513C>T	XP_011520938.1:p.Arg505Ter
XM_011522637.1:c.1513C>T	XP_011520939.1:p.Arg505Ter
XM_011522638.1:c.1402C>T	XP_011520940.1:p.Arg468Ter
XM_011522639.1:c.1513C>T	XP_011520941.1:p.Arg505Ter
XM_011522640.1:c.1513C>T	XP_011520942.1:p.Arg505Ter
XM_011522641.1:c.1402C>T	XP_011520943.1:p.Arg468Ter
NM_000548.4:c.1513C>T	NP_000539.2:p.Arg505Ter
NM_001077183.2:c.1513C>T	NP_001070651.1:p.Arg505Ter
NM_001114382.2:c.1513C>T	NP_001107854.1:p.Arg505Ter
NM_001318827.1:c.1402C>T	NP_001305756.1:p.Arg468Ter
NM_001318829.1:c.1366C>T	NP_001305758.1:p.Arg456Ter
NM_001318831.1:c.913C>T	NP_001305760.1:p.Arg305Ter
NM_001318832.1:c.1546C>T	NP_001305761.1:p.Arg516Ter
NM_001363528.1:c.1513C>T	NP_001350457.1:p.Arg505Ter
NM_021055.2:c.1513C>T	NP_066399.2:p.Arg505Ter
XM_005255531.4:c.1513C>T	XP_005255588.2:p.Arg505Ter
XM_011522636.2:c.1513C>T	XP_011520938.1:p.Arg505Ter
XM_011522637.2:c.1513C>T	XP_011520939.1:p.Arg505Ter
XM_011522638.2:c.1675C>T	XP_011520940.2:p.Arg559Ter
XM_011522639.2:c.1513C>T	XP_011520941.1:p.Arg505Ter
XM_011522640.2:c.1513C>T	XP_011520942.1:p.Arg505Ter
XM_017023615.1:c.1513C>T	XP_016879104.1:p.Arg505Ter
XM_017023616.1:c.1513C>T	XP_016879105.1:p.Arg505Ter
XM_017023617.1:c.1675C>T	XP_016879106.1:p.Arg559Ter
XM_017023618.1:c.169C>T	XP_016879107.1:p.Arg57Ter
XM_024450413.1:c.1513C>T	XP_024306181.1:p.Arg505Ter
NM_000548.5:c.1513C>T MANE Select	NP_000539.2:p.Arg505Ter
NM_001370404.1:c.1513C>T	NP_001357333.1:p.Arg505Ter
NM_001370405.1:c.1513C>T	NP_001357334.1:p.Arg505Ter
NM_001077183.3:c.1513C>T	NP_001070651.1:p.Arg505Ter
NM_001114382.3:c.1513C>T	NP_001107854.1:p.Arg505Ter
NM_001318827.2:c.1402C>T	NP_001305756.1:p.Arg468Ter
NM_001318829.2:c.1366C>T	NP_001305758.1:p.Arg456Ter
NM_001318831.2:c.913C>T	NP_001305760.1:p.Arg305Ter
NM_001318832.2:c.1546C>T	NP_001305761.1:p.Arg516Ter
NM_001363528.2:c.1513C>T	NP_001350457.1:p.Arg505Ter
NM_021055.3:c.1513C>T	NP_066399.2:p.Arg505Ter