Canonical Allele Identifier: CA021940

Gene: TSC2

Linked Data

• ClinVar Variation Id: 65234
• ClinVar RCV Id: RCV000055455 ; RCV000579195 ; RCV000722175
• dbSNP Id: rs397515170
• MyVariant Identifiers: chr16:g.2138142T>C (hg19) ; chr16:g.2088141T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088141T>C , CM000678.2:g.2088141T>C	GRCh38
NC_000016.9:g.2138142T>C , CM000678.1:g.2138142T>C	GRCh37
NC_000016.8:g.2078143T>C	NCBI36
NG_005895.1:g.43836T>C , LRG_487:g.43836T>C
NG_008617.1:g.55080A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*3509+2T>C	ENSP00000455997.2:n.*3509+2T>C
ENST00000642206.2:c.5007+2T>C	ENSP00000495146.2:n.5007+2T>C
ENST00000642365.2:c.5157+2T>C	ENSP00000495459.2:n.5157+2T>C
ENST00000644417.2:c.*5673+2T>C	ENSP00000493912.2:n.*5673+2T>C
ENST00000646464.2:c.*7909+2T>C	ENSP00000496610.2:n.*7909+2T>C
ENST00000219476.9:c.5160+2T>C MANE Select	ENSP00000219476.3:n.5160+2T>C
ENST00000350773.9:c.5091+2T>C	ENSP00000344383.4:n.5091+2T>C
ENST00000401874.7:c.4959+2T>C	ENSP00000384468.2:n.4959+2T>C
ENST00000568454.6:c.4992+2T>C	ENSP00000454487.1:n.4992+2T>C
ENST00000569110.2:c.1383+2T>C
ENST00000569930.2:n.3042+2T>C
ENST00000642365.1:c.3814+2T>C
ENST00000642561.1:c.5031+2T>C	ENSP00000495099.1:n.5031+2T>C
ENST00000642791.1:n.757+2T>C
ENST00000642797.1:c.4962+2T>C	ENSP00000493846.1:n.4962+2T>C
ENST00000642936.1:c.5028+2T>C	ENSP00000494514.1:n.5028+2T>C
ENST00000643088.1:c.4953+2T>C	ENSP00000494747.1:n.4953+2T>C
ENST00000643426.1:n.2808+2T>C
ENST00000643946.1:c.5085+2T>C	ENSP00000495927.1:n.5085+2T>C
ENST00000644043.1:c.5031+2T>C	ENSP00000496262.1:n.5031+2T>C
ENST00000644329.1:c.4961T>C	ENSP00000496611.1:p.Val1654Ala
ENST00000644335.1:c.4956+2T>C	ENSP00000496317.1:n.4956+2T>C
ENST00000644399.1:c.5081+2T>C
ENST00000645024.1:n.3244+2T>C
ENST00000646388.1:c.5154+2T>C	ENSP00000495921.1:n.5154+2T>C
ENST00000646634.1:n.3975+2T>C
ENST00000646674.1:n.2412+2T>C
ENST00000647042.1:n.2383+2T>C
ENST00000647180.1:n.2273+2T>C
ENST00000219476.7:c.5160+2T>C	ENSP00000219476.3:n.5160+2T>C
ENST00000350773.8:c.5091+2T>C	ENSP00000344383.4:n.5091+2T>C
ENST00000382538.10:c.4815+2T>C	ENSP00000371978.6:n.4815+2T>C
ENST00000401874.6:c.4959+2T>C	ENSP00000384468.2:n.4959+2T>C
ENST00000439117.6:c.*4327+2T>C	ENSP00000406980.2:n.*4327+2T>C
ENST00000439673.6:c.4851+2T>C	ENSP00000399232.2:n.4851+2T>C
ENST00000497886.5:n.2883+2T>C
ENST00000568454.5:c.4992+2T>C	ENSP00000454487.1:n.4992+2T>C
ENST00000569110.1:c.1342+2T>C
ENST00000569930.1:n.2275+2T>C
NM_000548.3:c.5160+2T>C , LRG_487t1:c.5160+2T>C	NP_000539.2:n.5160+2T>C
NM_001077183.1:c.4959+2T>C	NP_001070651.1:n.4959+2T>C
NM_001114382.1:c.5091+2T>C	NP_001107854.1:n.5091+2T>C
XM_005255529.3:c.5031+2T>C	XP_005255586.2:n.5031+2T>C
XM_005255531.3:c.4962+2T>C	XP_005255588.2:n.4962+2T>C
XM_011522636.1:c.5214+2T>C	XP_011520938.1:n.5214+2T>C
XM_011522637.1:c.5211+2T>C	XP_011520939.1:n.5211+2T>C
XM_011522638.1:c.5103+2T>C	XP_011520940.1:n.5103+2T>C
XM_011522639.1:c.5085+2T>C	XP_011520941.1:n.5085+2T>C
XM_011522640.1:c.5082+2T>C	XP_011520942.1:n.5082+2T>C
XM_011522641.1:c.4851+2T>C	XP_011520943.1:n.4851+2T>C
NM_000548.4:c.5160+2T>C	NP_000539.2:n.5160+2T>C
NM_001077183.2:c.4959+2T>C	NP_001070651.1:n.4959+2T>C
NM_001114382.2:c.5091+2T>C	NP_001107854.1:n.5091+2T>C
NM_001318827.1:c.4851+2T>C	NP_001305756.1:n.4851+2T>C
NM_001318829.1:c.4815+2T>C	NP_001305758.1:n.4815+2T>C
NM_001318831.1:c.4428+2T>C	NP_001305760.1:n.4428+2T>C
NM_001318832.1:c.4992+2T>C	NP_001305761.1:n.4992+2T>C
NM_001363528.1:c.4962+2T>C	NP_001350457.1:n.4962+2T>C
NM_021055.2:c.5031+2T>C	NP_066399.2:n.5031+2T>C
XM_005255531.4:c.4962+2T>C	XP_005255588.2:n.4962+2T>C
XM_011522636.2:c.5214+2T>C	XP_011520938.1:n.5214+2T>C
XM_011522637.2:c.5211+2T>C	XP_011520939.1:n.5211+2T>C
XM_011522638.2:c.5376+2T>C	XP_011520940.2:n.5376+2T>C
XM_011522639.2:c.5085+2T>C	XP_011520941.1:n.5085+2T>C
XM_011522640.2:c.5082+2T>C	XP_011520942.1:n.5082+2T>C
XM_017023615.1:c.5157+2T>C	XP_016879104.1:n.5157+2T>C
XM_017023616.1:c.5028+2T>C	XP_016879105.1:n.5028+2T>C
XM_017023617.1:c.5124+2T>C	XP_016879106.1:n.5124+2T>C
XM_017023618.1:c.3870+2T>C	XP_016879107.1:n.3870+2T>C
XM_024450413.1:c.4961T>C	XP_024306181.1:p.Val1654Ala
NM_000548.5:c.5160+2T>C MANE Select	NP_000539.2:n.5160+2T>C
NM_001370404.1:c.5028+2T>C	NP_001357333.1:n.5028+2T>C
NM_001370405.1:c.5031+2T>C	NP_001357334.1:n.5031+2T>C
NM_001077183.3:c.4959+2T>C	NP_001070651.1:n.4959+2T>C
NM_001114382.3:c.5091+2T>C	NP_001107854.1:n.5091+2T>C
NM_001318827.2:c.4851+2T>C	NP_001305756.1:n.4851+2T>C
NM_001318829.2:c.4815+2T>C	NP_001305758.1:n.4815+2T>C
NM_001318831.2:c.4428+2T>C	NP_001305760.1:n.4428+2T>C
NM_001318832.2:c.4992+2T>C	NP_001305761.1:n.4992+2T>C
NM_001363528.2:c.4962+2T>C	NP_001350457.1:n.4962+2T>C
NM_021055.3:c.5031+2T>C	NP_066399.2:n.5031+2T>C