Canonical Allele Identifier: CA276753687

Gene: TSC2

Linked Data

• ClinVar Variation Id: 2163573
• ClinVar RCV Id: RCV003092389
• dbSNP Id: rs1028721475
• MyVariant Identifiers: chr16:g.2134736_2134758del (hg19) ; chr16:g.2084735_2084757del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2084740_2084762del , CM000678.2:g.2084740_2084762del	GRCh38
NC_000016.9:g.2134741_2134763del , CM000678.1:g.2134741_2134763del	GRCh37
NC_000016.8:g.2074742_2074764del	NCBI36
NG_005895.1:g.40435_40457del , LRG_487:g.40435_40457del

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*2842+25_*2842+47del	ENSP00000455997.2:n.*2842+25_*2842+47del
ENST00000642206.2:c.4340+25_4340+47del	ENSP00000495146.2:n.4340+25_4340+47del
ENST00000642365.2:c.4490+25_4490+47del	ENSP00000495459.2:n.4490+25_4490+47del
ENST00000644417.2:c.*4873+25_*4873+47del	ENSP00000493912.2:n.*4873+25_*4873+47del
ENST00000646464.2:c.*7242+25_*7242+47del	ENSP00000496610.2:n.*7242+25_*7242+47del
ENST00000219476.9:c.4493+25_4493+47del MANE Select	ENSP00000219476.3:n.4493+25_4493+47del
ENST00000350773.9:c.4424+25_4424+47del	ENSP00000344383.4:n.4424+25_4424+47del
ENST00000401874.7:c.4292+25_4292+47del	ENSP00000384468.2:n.4292+25_4292+47del
ENST00000568454.6:c.4325+25_4325+47del	ENSP00000454487.1:n.4325+25_4325+47del
ENST00000569110.2:c.716+38_716+60del
ENST00000569930.2:n.2375+25_2375+47del
ENST00000642365.1:c.3147+25_3147+47del
ENST00000642561.1:c.4364+25_4364+47del	ENSP00000495099.1:n.4364+25_4364+47del
ENST00000642728.1:n.675+25_675+47del
ENST00000642797.1:c.4295+25_4295+47del	ENSP00000493846.1:n.4295+25_4295+47del
ENST00000642936.1:c.4361+25_4361+47del	ENSP00000494514.1:n.4361+25_4361+47del
ENST00000643088.1:c.4292+25_4292+47del	ENSP00000494747.1:n.4292+25_4292+47del
ENST00000643177.1:n.507+25_507+47del
ENST00000643426.1:n.2141+25_2141+47del
ENST00000643946.1:c.4424+25_4424+47del	ENSP00000495927.1:n.4424+25_4424+47del
ENST00000644043.1:c.4364+25_4364+47del	ENSP00000496262.1:n.4364+25_4364+47del
ENST00000644329.1:c.4292+25_4292+47del	ENSP00000496611.1:n.4292+25_4292+47del
ENST00000644335.1:c.4295+25_4295+47del	ENSP00000496317.1:n.4295+25_4295+47del
ENST00000644399.1:c.4414+25_4414+47del
ENST00000645024.1:n.2577+25_2577+47del
ENST00000646388.1:c.4493+25_4493+47del	ENSP00000495921.1:n.4493+25_4493+47del
ENST00000646634.1:n.3308+25_3308+47del
ENST00000646674.1:n.1745+25_1745+47del
ENST00000647042.1:n.1716+25_1716+47del
ENST00000647180.1:n.1606+25_1606+47del
ENST00000219476.7:c.4493+25_4493+47del	ENSP00000219476.3:n.4493+25_4493+47del
ENST00000350773.8:c.4424+25_4424+47del	ENSP00000344383.4:n.4424+25_4424+47del
ENST00000382538.10:c.4148+25_4148+47del	ENSP00000371978.6:n.4148+25_4148+47del
ENST00000401874.6:c.4292+25_4292+47del	ENSP00000384468.2:n.4292+25_4292+47del
ENST00000439117.6:c.*3660+25_*3660+47del	ENSP00000406980.2:n.*3660+25_*3660+47del
ENST00000439673.6:c.4184+25_4184+47del	ENSP00000399232.2:n.4184+25_4184+47del
ENST00000497886.5:n.2251+25_2251+47del
ENST00000568454.5:c.4325+25_4325+47del	ENSP00000454487.1:n.4325+25_4325+47del
ENST00000569110.1:c.675+25_675+47del
ENST00000569930.1:n.1608+25_1608+47del
NM_000548.3:c.4493+25_4493+47del , LRG_487t1:c.4493+25_4493+47del	NP_000539.2:n.4493+25_4493+47del
NM_001077183.1:c.4292+25_4292+47del	NP_001070651.1:n.4292+25_4292+47del
NM_001114382.1:c.4424+25_4424+47del	NP_001107854.1:n.4424+25_4424+47del
XM_005255529.3:c.4364+25_4364+47del	XP_005255586.2:n.4364+25_4364+47del
XM_005255531.3:c.4295+25_4295+47del	XP_005255588.2:n.4295+25_4295+47del
XM_011522636.1:c.4547+25_4547+47del	XP_011520938.1:n.4547+25_4547+47del
XM_011522637.1:c.4544+25_4544+47del	XP_011520939.1:n.4544+25_4544+47del
XM_011522638.1:c.4436+25_4436+47del	XP_011520940.1:n.4436+25_4436+47del
XM_011522639.1:c.4418+25_4418+47del	XP_011520941.1:n.4418+25_4418+47del
XM_011522640.1:c.4415+25_4415+47del	XP_011520942.1:n.4415+25_4415+47del
XM_011522641.1:c.4184+25_4184+47del	XP_011520943.1:n.4184+25_4184+47del
NM_000548.4:c.4493+25_4493+47del	NP_000539.2:n.4493+25_4493+47del
NM_001077183.2:c.4292+25_4292+47del	NP_001070651.1:n.4292+25_4292+47del
NM_001114382.2:c.4424+25_4424+47del	NP_001107854.1:n.4424+25_4424+47del
NM_001318827.1:c.4184+25_4184+47del	NP_001305756.1:n.4184+25_4184+47del
NM_001318829.1:c.4148+25_4148+47del	NP_001305758.1:n.4148+25_4148+47del
NM_001318831.1:c.3761+25_3761+47del	NP_001305760.1:n.3761+25_3761+47del
NM_001318832.1:c.4325+25_4325+47del	NP_001305761.1:n.4325+25_4325+47del
NM_001363528.1:c.4295+25_4295+47del	NP_001350457.1:n.4295+25_4295+47del
NM_021055.2:c.4364+25_4364+47del	NP_066399.2:n.4364+25_4364+47del
XM_005255531.4:c.4295+25_4295+47del	XP_005255588.2:n.4295+25_4295+47del
XM_011522636.2:c.4547+25_4547+47del	XP_011520938.1:n.4547+25_4547+47del
XM_011522637.2:c.4544+25_4544+47del	XP_011520939.1:n.4544+25_4544+47del
XM_011522638.2:c.4709+25_4709+47del	XP_011520940.2:n.4709+25_4709+47del
XM_011522639.2:c.4418+25_4418+47del	XP_011520941.1:n.4418+25_4418+47del
XM_011522640.2:c.4415+25_4415+47del	XP_011520942.1:n.4415+25_4415+47del
XM_017023615.1:c.4490+25_4490+47del	XP_016879104.1:n.4490+25_4490+47del
XM_017023616.1:c.4361+25_4361+47del	XP_016879105.1:n.4361+25_4361+47del
XM_017023617.1:c.4457+25_4457+47del	XP_016879106.1:n.4457+25_4457+47del
XM_017023618.1:c.3203+25_3203+47del	XP_016879107.1:n.3203+25_3203+47del
XM_024450413.1:c.4292+25_4292+47del	XP_024306181.1:n.4292+25_4292+47del
NM_000548.5:c.4493+25_4493+47del MANE Select	NP_000539.2:n.4493+25_4493+47del
NM_001370404.1:c.4361+25_4361+47del	NP_001357333.1:n.4361+25_4361+47del
NM_001370405.1:c.4364+25_4364+47del	NP_001357334.1:n.4364+25_4364+47del
NM_001077183.3:c.4292+25_4292+47del	NP_001070651.1:n.4292+25_4292+47del
NM_001114382.3:c.4424+25_4424+47del	NP_001107854.1:n.4424+25_4424+47del
NM_001318827.2:c.4184+25_4184+47del	NP_001305756.1:n.4184+25_4184+47del
NM_001318829.2:c.4148+25_4148+47del	NP_001305758.1:n.4148+25_4148+47del
NM_001318831.2:c.3761+25_3761+47del	NP_001305760.1:n.3761+25_3761+47del
NM_001318832.2:c.4325+25_4325+47del	NP_001305761.1:n.4325+25_4325+47del
NM_001363528.2:c.4295+25_4295+47del	NP_001350457.1:n.4295+25_4295+47del
NM_021055.3:c.4364+25_4364+47del	NP_066399.2:n.4364+25_4364+47del