Canonical Allele Identifier: CA021488

Gene: TSC2

Linked Data

• ClinVar Variation Id: 49340
• ClinVar RCV Id: RCV000042600 ; RCV000302325 ; RCV001048099
• dbSNP Id: rs45448101
• MyVariant Identifiers: chr16:g.2137867C>T (hg19) ; chr16:g.2087866C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2087866C>T , CM000678.2:g.2087866C>T	GRCh38
NC_000016.9:g.2137867C>T , CM000678.1:g.2137867C>T	GRCh37
NC_000016.8:g.2077868C>T	NCBI36
NG_005895.1:g.43561C>T , LRG_487:g.43561C>T
NG_008617.1:g.55355G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3342C>T	ENSP00000455997.2:n.*3342C>T
ENST00000642206.2:c.4840C>T	ENSP00000495146.2:p.Gln1614Ter
ENST00000642365.2:c.4990C>T	ENSP00000495459.2:p.Gln1664Ter
ENST00000644417.2:c.*5506C>T	ENSP00000493912.2:n.*5506C>T
ENST00000646464.2:c.*7742C>T	ENSP00000496610.2:n.*7742C>T
ENST00000219476.9:c.4993C>T MANE Select	ENSP00000219476.3:p.Gln1665Ter
ENST00000350773.9:c.4924C>T	ENSP00000344383.4:p.Gln1642Ter
ENST00000401874.7:c.4792C>T	ENSP00000384468.2:p.Gln1598Ter
ENST00000568454.6:c.4825C>T	ENSP00000454487.1:p.Gln1609Ter
ENST00000569110.2:c.1216C>T
ENST00000569930.2:n.2875C>T
ENST00000642365.1:c.3647C>T
ENST00000642561.1:c.4864C>T	ENSP00000495099.1:p.Gln1622Ter
ENST00000642791.1:n.590C>T
ENST00000642797.1:c.4795C>T	ENSP00000493846.1:p.Gln1599Ter
ENST00000642936.1:c.4861C>T	ENSP00000494514.1:p.Gln1621Ter
ENST00000643088.1:c.4786C>T	ENSP00000494747.1:p.Gln1596Ter
ENST00000643177.1:n.1007C>T
ENST00000643426.1:n.2641C>T
ENST00000643946.1:c.4918C>T	ENSP00000495927.1:p.Gln1640Ter
ENST00000644043.1:c.4864C>T	ENSP00000496262.1:p.Gln1622Ter
ENST00000644278.1:n.475C>T
ENST00000644329.1:c.4792C>T	ENSP00000496611.1:p.Gln1598Ter
ENST00000644335.1:c.4789C>T	ENSP00000496317.1:p.Gln1597Ter
ENST00000644399.1:c.4914C>T
ENST00000645024.1:n.3077C>T
ENST00000646388.1:c.4987C>T	ENSP00000495921.1:p.Gln1663Ter
ENST00000646634.1:n.3808C>T
ENST00000646674.1:n.2245C>T
ENST00000647042.1:n.2216C>T
ENST00000647180.1:n.2106C>T
ENST00000219476.7:c.4993C>T	ENSP00000219476.3:p.Gln1665Ter
ENST00000350773.8:c.4924C>T	ENSP00000344383.4:p.Gln1642Ter
ENST00000382538.10:c.4648C>T	ENSP00000371978.6:p.Gln1550Ter
ENST00000401874.6:c.4792C>T	ENSP00000384468.2:p.Gln1598Ter
ENST00000439117.6:c.*4160C>T	ENSP00000406980.2:n.*4160C>T
ENST00000439673.6:c.4684C>T	ENSP00000399232.2:p.Gln1562Ter
ENST00000497886.5:n.2716C>T
ENST00000568454.5:c.4825C>T	ENSP00000454487.1:p.Gln1609Ter
ENST00000569110.1:c.1175C>T
ENST00000569930.1:n.2108C>T
NM_000548.3:c.4993C>T , LRG_487t1:c.4993C>T	NP_000539.2:p.Gln1665Ter
NM_001077183.1:c.4792C>T	NP_001070651.1:p.Gln1598Ter
NM_001114382.1:c.4924C>T	NP_001107854.1:p.Gln1642Ter
XM_005255529.3:c.4864C>T	XP_005255586.2:p.Gln1622Ter
XM_005255531.3:c.4795C>T	XP_005255588.2:p.Gln1599Ter
XM_011522636.1:c.5047C>T	XP_011520938.1:p.Gln1683Ter
XM_011522637.1:c.5044C>T	XP_011520939.1:p.Gln1682Ter
XM_011522638.1:c.4936C>T	XP_011520940.1:p.Gln1646Ter
XM_011522639.1:c.4918C>T	XP_011520941.1:p.Gln1640Ter
XM_011522640.1:c.4915C>T	XP_011520942.1:p.Gln1639Ter
XM_011522641.1:c.4684C>T	XP_011520943.1:p.Gln1562Ter
NM_000548.4:c.4993C>T	NP_000539.2:p.Gln1665Ter
NM_001077183.2:c.4792C>T	NP_001070651.1:p.Gln1598Ter
NM_001114382.2:c.4924C>T	NP_001107854.1:p.Gln1642Ter
NM_001318827.1:c.4684C>T	NP_001305756.1:p.Gln1562Ter
NM_001318829.1:c.4648C>T	NP_001305758.1:p.Gln1550Ter
NM_001318831.1:c.4261C>T	NP_001305760.1:p.Gln1421Ter
NM_001318832.1:c.4825C>T	NP_001305761.1:p.Gln1609Ter
NM_001363528.1:c.4795C>T	NP_001350457.1:p.Gln1599Ter
NM_021055.2:c.4864C>T	NP_066399.2:p.Gln1622Ter
XM_005255531.4:c.4795C>T	XP_005255588.2:p.Gln1599Ter
XM_011522636.2:c.5047C>T	XP_011520938.1:p.Gln1683Ter
XM_011522637.2:c.5044C>T	XP_011520939.1:p.Gln1682Ter
XM_011522638.2:c.5209C>T	XP_011520940.2:p.Gln1737Ter
XM_011522639.2:c.4918C>T	XP_011520941.1:p.Gln1640Ter
XM_011522640.2:c.4915C>T	XP_011520942.1:p.Gln1639Ter
XM_017023615.1:c.4990C>T	XP_016879104.1:p.Gln1664Ter
XM_017023616.1:c.4861C>T	XP_016879105.1:p.Gln1621Ter
XM_017023617.1:c.4957C>T	XP_016879106.1:p.Gln1653Ter
XM_017023618.1:c.3703C>T	XP_016879107.1:p.Gln1235Ter
XM_024450413.1:c.4792C>T	XP_024306181.1:p.Gln1598Ter
NM_000548.5:c.4993C>T MANE Select	NP_000539.2:p.Gln1665Ter
NM_001370404.1:c.4861C>T	NP_001357333.1:p.Gln1621Ter
NM_001370405.1:c.4864C>T	NP_001357334.1:p.Gln1622Ter
NM_001077183.3:c.4792C>T	NP_001070651.1:p.Gln1598Ter
NM_001114382.3:c.4924C>T	NP_001107854.1:p.Gln1642Ter
NM_001318827.2:c.4684C>T	NP_001305756.1:p.Gln1562Ter
NM_001318829.2:c.4648C>T	NP_001305758.1:p.Gln1550Ter
NM_001318831.2:c.4261C>T	NP_001305760.1:p.Gln1421Ter
NM_001318832.2:c.4825C>T	NP_001305761.1:p.Gln1609Ter
NM_001363528.2:c.4795C>T	NP_001350457.1:p.Gln1599Ter
NM_021055.3:c.4864C>T	NP_066399.2:p.Gln1622Ter