Canonical Allele Identifier: CA919640200

Gene: TSC2

Linked Data

• ClinVar Variation Id: 1607654
• ClinVar RCV Id: RCV002144738
• dbSNP Id: rs1567130394
• gnomAD v4: 16-2088139-T-TGTGA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088143_2088146dup , CM000678.2:g.2088143_2088146dup	GRCh38
NC_000016.9:g.2138144_2138147dup , CM000678.1:g.2138144_2138147dup	GRCh37
NC_000016.8:g.2078145_2078148dup	NCBI36
NG_005895.1:g.43838_43841dup , LRG_487:g.43838_43841dup
NG_008617.1:g.55078_55081dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*3509+4_*3509+7dup	ENSP00000455997.2:n.*3509+4_*3509+7dup
ENST00000642206.2:c.5007+4_5007+7dup	ENSP00000495146.2:n.5007+4_5007+7dup
ENST00000642365.2:c.5157+4_5157+7dup	ENSP00000495459.2:n.5157+4_5157+7dup
ENST00000644417.2:c.*5673+4_*5673+7dup	ENSP00000493912.2:n.*5673+4_*5673+7dup
ENST00000646464.2:c.*7909+4_*7909+7dup	ENSP00000496610.2:n.*7909+4_*7909+7dup
ENST00000219476.9:c.5160+4_5160+7dup MANE Select	ENSP00000219476.3:n.5160+4_5160+7dup
ENST00000350773.9:c.5091+4_5091+7dup	ENSP00000344383.4:n.5091+4_5091+7dup
ENST00000401874.7:c.4959+4_4959+7dup	ENSP00000384468.2:n.4959+4_4959+7dup
ENST00000568454.6:c.4992+4_4992+7dup	ENSP00000454487.1:n.4992+4_4992+7dup
ENST00000569110.2:c.1383+4_1383+7dup
ENST00000569930.2:n.3042+4_3042+7dup
ENST00000642365.1:c.3814+4_3814+7dup
ENST00000642561.1:c.5031+4_5031+7dup	ENSP00000495099.1:n.5031+4_5031+7dup
ENST00000642791.1:n.757+4_757+7dup
ENST00000642797.1:c.4962+4_4962+7dup	ENSP00000493846.1:n.4962+4_4962+7dup
ENST00000642936.1:c.5028+4_5028+7dup	ENSP00000494514.1:n.5028+4_5028+7dup
ENST00000643088.1:c.4953+4_4953+7dup	ENSP00000494747.1:n.4953+4_4953+7dup
ENST00000643426.1:n.2808+4_2808+7dup
ENST00000643946.1:c.5085+4_5085+7dup	ENSP00000495927.1:n.5085+4_5085+7dup
ENST00000644043.1:c.5031+4_5031+7dup	ENSP00000496262.1:n.5031+4_5031+7dup
ENST00000644329.1:c.4963_4966dup	ENSP00000496611.1:p.Gly1656GlufsTer8
ENST00000644335.1:c.4956+4_4956+7dup	ENSP00000496317.1:n.4956+4_4956+7dup
ENST00000644399.1:c.5081+4_5081+7dup
ENST00000645024.1:n.3244+4_3244+7dup
ENST00000646388.1:c.5154+4_5154+7dup	ENSP00000495921.1:n.5154+4_5154+7dup
ENST00000646634.1:n.3975+4_3975+7dup
ENST00000646674.1:n.2412+4_2412+7dup
ENST00000647042.1:n.2383+4_2383+7dup
ENST00000647180.1:n.2273+4_2273+7dup
ENST00000219476.7:c.5160+4_5160+7dup	ENSP00000219476.3:n.5160+4_5160+7dup
ENST00000350773.8:c.5091+4_5091+7dup	ENSP00000344383.4:n.5091+4_5091+7dup
ENST00000382538.10:c.4815+4_4815+7dup	ENSP00000371978.6:n.4815+4_4815+7dup
ENST00000401874.6:c.4959+4_4959+7dup	ENSP00000384468.2:n.4959+4_4959+7dup
ENST00000439117.6:c.*4327+4_*4327+7dup	ENSP00000406980.2:n.*4327+4_*4327+7dup
ENST00000439673.6:c.4851+4_4851+7dup	ENSP00000399232.2:n.4851+4_4851+7dup
ENST00000497886.5:n.2883+4_2883+7dup
ENST00000568454.5:c.4992+4_4992+7dup	ENSP00000454487.1:n.4992+4_4992+7dup
ENST00000569110.1:c.1342+4_1342+7dup
ENST00000569930.1:n.2275+4_2275+7dup
NM_000548.3:c.5160+4_5160+7dup , LRG_487t1:c.5160+4_5160+7dup	NP_000539.2:n.5160+4_5160+7dup
NM_001077183.1:c.4959+4_4959+7dup	NP_001070651.1:n.4959+4_4959+7dup
NM_001114382.1:c.5091+4_5091+7dup	NP_001107854.1:n.5091+4_5091+7dup
XM_005255529.3:c.5031+4_5031+7dup	XP_005255586.2:n.5031+4_5031+7dup
XM_005255531.3:c.4962+4_4962+7dup	XP_005255588.2:n.4962+4_4962+7dup
XM_011522636.1:c.5214+4_5214+7dup	XP_011520938.1:n.5214+4_5214+7dup
XM_011522637.1:c.5211+4_5211+7dup	XP_011520939.1:n.5211+4_5211+7dup
XM_011522638.1:c.5103+4_5103+7dup	XP_011520940.1:n.5103+4_5103+7dup
XM_011522639.1:c.5085+4_5085+7dup	XP_011520941.1:n.5085+4_5085+7dup
XM_011522640.1:c.5082+4_5082+7dup	XP_011520942.1:n.5082+4_5082+7dup
XM_011522641.1:c.4851+4_4851+7dup	XP_011520943.1:n.4851+4_4851+7dup
NM_000548.4:c.5160+4_5160+7dup	NP_000539.2:n.5160+4_5160+7dup
NM_001077183.2:c.4959+4_4959+7dup	NP_001070651.1:n.4959+4_4959+7dup
NM_001114382.2:c.5091+4_5091+7dup	NP_001107854.1:n.5091+4_5091+7dup
NM_001318827.1:c.4851+4_4851+7dup	NP_001305756.1:n.4851+4_4851+7dup
NM_001318829.1:c.4815+4_4815+7dup	NP_001305758.1:n.4815+4_4815+7dup
NM_001318831.1:c.4428+4_4428+7dup	NP_001305760.1:n.4428+4_4428+7dup
NM_001318832.1:c.4992+4_4992+7dup	NP_001305761.1:n.4992+4_4992+7dup
NM_001363528.1:c.4962+4_4962+7dup	NP_001350457.1:n.4962+4_4962+7dup
NM_021055.2:c.5031+4_5031+7dup	NP_066399.2:n.5031+4_5031+7dup
XM_005255531.4:c.4962+4_4962+7dup	XP_005255588.2:n.4962+4_4962+7dup
XM_011522636.2:c.5214+4_5214+7dup	XP_011520938.1:n.5214+4_5214+7dup
XM_011522637.2:c.5211+4_5211+7dup	XP_011520939.1:n.5211+4_5211+7dup
XM_011522638.2:c.5376+4_5376+7dup	XP_011520940.2:n.5376+4_5376+7dup
XM_011522639.2:c.5085+4_5085+7dup	XP_011520941.1:n.5085+4_5085+7dup
XM_011522640.2:c.5082+4_5082+7dup	XP_011520942.1:n.5082+4_5082+7dup
XM_017023615.1:c.5157+4_5157+7dup	XP_016879104.1:n.5157+4_5157+7dup
XM_017023616.1:c.5028+4_5028+7dup	XP_016879105.1:n.5028+4_5028+7dup
XM_017023617.1:c.5124+4_5124+7dup	XP_016879106.1:n.5124+4_5124+7dup
XM_017023618.1:c.3870+4_3870+7dup	XP_016879107.1:n.3870+4_3870+7dup
XM_024450413.1:c.4963_4966dup	XP_024306181.1:p.Gly1656GlufsTer8
NM_000548.5:c.5160+4_5160+7dup MANE Select	NP_000539.2:n.5160+4_5160+7dup
NM_001370404.1:c.5028+4_5028+7dup	NP_001357333.1:n.5028+4_5028+7dup
NM_001370405.1:c.5031+4_5031+7dup	NP_001357334.1:n.5031+4_5031+7dup
NM_001077183.3:c.4959+4_4959+7dup	NP_001070651.1:n.4959+4_4959+7dup
NM_001114382.3:c.5091+4_5091+7dup	NP_001107854.1:n.5091+4_5091+7dup
NM_001318827.2:c.4851+4_4851+7dup	NP_001305756.1:n.4851+4_4851+7dup
NM_001318829.2:c.4815+4_4815+7dup	NP_001305758.1:n.4815+4_4815+7dup
NM_001318831.2:c.4428+4_4428+7dup	NP_001305760.1:n.4428+4_4428+7dup
NM_001318832.2:c.4992+4_4992+7dup	NP_001305761.1:n.4992+4_4992+7dup
NM_001363528.2:c.4962+4_4962+7dup	NP_001350457.1:n.4962+4_4962+7dup
NM_021055.3:c.5031+4_5031+7dup	NP_066399.2:n.5031+4_5031+7dup