Canonical Allele Identifier: CA020316

Gene: TSC2

Linked Data

• ClinVar Variation Id: 49294
• ClinVar RCV Id: RCV000042553 ; RCV002273945
• dbSNP Id: rs45517339
• gnomAD v4: 16-2084577-C-A
• MyVariant Identifiers: chr16:g.2134578C>A (hg19) ; chr16:g.2084577C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2084577C>A , CM000678.2:g.2084577C>A	GRCh38
NC_000016.9:g.2134578C>A , CM000678.1:g.2134578C>A	GRCh37
NC_000016.8:g.2074579C>A	NCBI36
NG_005895.1:g.40272C>A , LRG_487:g.40272C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2704C>A	ENSP00000455997.2:n.*2704C>A
ENST00000642206.2:c.4202C>A	ENSP00000495146.2:p.Ser1401Ter
ENST00000642365.2:c.4352C>A	ENSP00000495459.2:p.Ser1451Ter
ENST00000644417.2:c.*4735C>A	ENSP00000493912.2:n.*4735C>A
ENST00000646464.2:c.*7104C>A	ENSP00000496610.2:n.*7104C>A
ENST00000219476.9:c.4355C>A MANE Select	ENSP00000219476.3:p.Ser1452Ter
ENST00000350773.9:c.4286C>A	ENSP00000344383.4:p.Ser1429Ter
ENST00000401874.7:c.4154C>A	ENSP00000384468.2:p.Ser1385Ter
ENST00000568454.6:c.4187C>A	ENSP00000454487.1:p.Ser1396Ter
ENST00000569110.2:c.591C>A
ENST00000569930.2:n.2237C>A
ENST00000642365.1:c.3009C>A
ENST00000642561.1:c.4226C>A	ENSP00000495099.1:p.Ser1409Ter
ENST00000642728.1:n.537C>A
ENST00000642797.1:c.4157C>A	ENSP00000493846.1:p.Ser1386Ter
ENST00000642936.1:c.4223C>A	ENSP00000494514.1:p.Ser1408Ter
ENST00000643088.1:c.4154C>A	ENSP00000494747.1:p.Ser1385Ter
ENST00000643177.1:n.369C>A
ENST00000643426.1:n.2003C>A
ENST00000643946.1:c.4286C>A	ENSP00000495927.1:p.Ser1429Ter
ENST00000644043.1:c.4226C>A	ENSP00000496262.1:p.Ser1409Ter
ENST00000644329.1:c.4154C>A	ENSP00000496611.1:p.Ser1385Ter
ENST00000644335.1:c.4157C>A	ENSP00000496317.1:p.Ser1386Ter
ENST00000644399.1:c.4276C>A
ENST00000645024.1:n.2439C>A
ENST00000646388.1:c.4355C>A	ENSP00000495921.1:p.Ser1452Ter
ENST00000646634.1:n.3170C>A
ENST00000646674.1:n.1607C>A
ENST00000647042.1:n.1578C>A
ENST00000647180.1:n.1468C>A
ENST00000219476.7:c.4355C>A	ENSP00000219476.3:p.Ser1452Ter
ENST00000350773.8:c.4286C>A	ENSP00000344383.4:p.Ser1429Ter
ENST00000382538.10:c.4010C>A	ENSP00000371978.6:p.Ser1337Ter
ENST00000401874.6:c.4154C>A	ENSP00000384468.2:p.Ser1385Ter
ENST00000439117.6:c.*3522C>A	ENSP00000406980.2:n.*3522C>A
ENST00000439673.6:c.4046C>A	ENSP00000399232.2:p.Ser1349Ter
ENST00000497886.5:n.2113C>A
ENST00000568454.5:c.4187C>A	ENSP00000454487.1:p.Ser1396Ter
ENST00000569110.1:c.537C>A
ENST00000569930.1:n.1470C>A
NM_000548.3:c.4355C>A , LRG_487t1:c.4355C>A	NP_000539.2:p.Ser1452Ter
NM_001077183.1:c.4154C>A	NP_001070651.1:p.Ser1385Ter
NM_001114382.1:c.4286C>A	NP_001107854.1:p.Ser1429Ter
XM_005255529.3:c.4226C>A	XP_005255586.2:p.Ser1409Ter
XM_005255531.3:c.4157C>A	XP_005255588.2:p.Ser1386Ter
XM_011522636.1:c.4409C>A	XP_011520938.1:p.Ser1470Ter
XM_011522637.1:c.4406C>A	XP_011520939.1:p.Ser1469Ter
XM_011522638.1:c.4298C>A	XP_011520940.1:p.Ser1433Ter
XM_011522639.1:c.4280C>A	XP_011520941.1:p.Ser1427Ter
XM_011522640.1:c.4277C>A	XP_011520942.1:p.Ser1426Ter
XM_011522641.1:c.4046C>A	XP_011520943.1:p.Ser1349Ter
NM_000548.4:c.4355C>A	NP_000539.2:p.Ser1452Ter
NM_001077183.2:c.4154C>A	NP_001070651.1:p.Ser1385Ter
NM_001114382.2:c.4286C>A	NP_001107854.1:p.Ser1429Ter
NM_001318827.1:c.4046C>A	NP_001305756.1:p.Ser1349Ter
NM_001318829.1:c.4010C>A	NP_001305758.1:p.Ser1337Ter
NM_001318831.1:c.3623C>A	NP_001305760.1:p.Ser1208Ter
NM_001318832.1:c.4187C>A	NP_001305761.1:p.Ser1396Ter
NM_001363528.1:c.4157C>A	NP_001350457.1:p.Ser1386Ter
NM_021055.2:c.4226C>A	NP_066399.2:p.Ser1409Ter
XM_005255531.4:c.4157C>A	XP_005255588.2:p.Ser1386Ter
XM_011522636.2:c.4409C>A	XP_011520938.1:p.Ser1470Ter
XM_011522637.2:c.4406C>A	XP_011520939.1:p.Ser1469Ter
XM_011522638.2:c.4571C>A	XP_011520940.2:p.Ser1524Ter
XM_011522639.2:c.4280C>A	XP_011520941.1:p.Ser1427Ter
XM_011522640.2:c.4277C>A	XP_011520942.1:p.Ser1426Ter
XM_017023615.1:c.4352C>A	XP_016879104.1:p.Ser1451Ter
XM_017023616.1:c.4223C>A	XP_016879105.1:p.Ser1408Ter
XM_017023617.1:c.4319C>A	XP_016879106.1:p.Ser1440Ter
XM_017023618.1:c.3065C>A	XP_016879107.1:p.Ser1022Ter
XM_024450413.1:c.4154C>A	XP_024306181.1:p.Ser1385Ter
NM_000548.5:c.4355C>A MANE Select	NP_000539.2:p.Ser1452Ter
NM_001370404.1:c.4223C>A	NP_001357333.1:p.Ser1408Ter
NM_001370405.1:c.4226C>A	NP_001357334.1:p.Ser1409Ter
NM_001077183.3:c.4154C>A	NP_001070651.1:p.Ser1385Ter
NM_001114382.3:c.4286C>A	NP_001107854.1:p.Ser1429Ter
NM_001318827.2:c.4046C>A	NP_001305756.1:p.Ser1349Ter
NM_001318829.2:c.4010C>A	NP_001305758.1:p.Ser1337Ter
NM_001318831.2:c.3623C>A	NP_001305760.1:p.Ser1208Ter
NM_001318832.2:c.4187C>A	NP_001305761.1:p.Ser1396Ter
NM_001363528.2:c.4157C>A	NP_001350457.1:p.Ser1386Ter
NM_021055.3:c.4226C>A	NP_066399.2:p.Ser1409Ter