Canonical Allele Identifier: CA022298

Gene: TSC2

Linked Data

• ClinVar Variation Id: 65296
• ClinVar RCV Id: RCV000055518
• dbSNP Id: rs397515217
• MyVariant Identifiers: chr16:g.2138316T>C (hg19) ; chr16:g.2088315T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088315T>C , CM000678.2:g.2088315T>C	GRCh38
NC_000016.9:g.2138316T>C , CM000678.1:g.2138316T>C	GRCh37
NC_000016.8:g.2078317T>C	NCBI36
NG_005895.1:g.44010T>C , LRG_487:g.44010T>C
NG_008617.1:g.54906A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3598T>C	ENSP00000455997.2:n.*3598T>C
ENST00000642206.2:c.5096T>C	ENSP00000495146.2:p.Leu1699Pro
ENST00000642365.2:c.5246T>C	ENSP00000495459.2:p.Leu1749Pro
ENST00000644417.2:c.*5762T>C	ENSP00000493912.2:n.*5762T>C
ENST00000646464.2:c.*7998T>C	ENSP00000496610.2:n.*7998T>C
ENST00000219476.9:c.5249T>C MANE Select	ENSP00000219476.3:p.Leu1750Pro
ENST00000350773.9:c.5180T>C	ENSP00000344383.4:p.Leu1727Pro
ENST00000401874.7:c.5048T>C	ENSP00000384468.2:p.Leu1683Pro
ENST00000568454.6:c.5081T>C	ENSP00000454487.1:p.Leu1694Pro
ENST00000569110.2:c.1472T>C
ENST00000569930.2:n.3131T>C
ENST00000642365.1:c.3903T>C
ENST00000642561.1:c.5108T>C	ENSP00000495099.1:p.Leu1703Pro
ENST00000642791.1:n.846T>C
ENST00000642797.1:c.5051T>C	ENSP00000493846.1:p.Leu1684Pro
ENST00000642936.1:c.5117T>C	ENSP00000494514.1:p.Leu1706Pro
ENST00000643088.1:c.5042T>C	ENSP00000494747.1:p.Leu1681Pro
ENST00000643426.1:n.2897T>C
ENST00000643946.1:c.5174T>C	ENSP00000495927.1:p.Leu1725Pro
ENST00000644043.1:c.5120T>C	ENSP00000496262.1:p.Leu1707Pro
ENST00000644329.1:c.5135T>C	ENSP00000496611.1:p.Leu1712Pro
ENST00000644335.1:c.5045T>C	ENSP00000496317.1:p.Leu1682Pro
ENST00000644399.1:c.5170T>C
ENST00000645024.1:n.3333T>C
ENST00000646388.1:c.5243T>C	ENSP00000495921.1:p.Leu1748Pro
ENST00000646634.1:n.4064T>C
ENST00000646674.1:n.2501T>C
ENST00000647042.1:n.2472T>C
ENST00000647180.1:n.2362T>C
ENST00000219476.7:c.5249T>C	ENSP00000219476.3:p.Leu1750Pro
ENST00000350773.8:c.5180T>C	ENSP00000344383.4:p.Leu1727Pro
ENST00000382538.10:c.4904T>C	ENSP00000371978.6:p.Leu1635Pro
ENST00000401874.6:c.5048T>C	ENSP00000384468.2:p.Leu1683Pro
ENST00000439117.6:c.*4416T>C	ENSP00000406980.2:n.*4416T>C
ENST00000439673.6:c.4940T>C	ENSP00000399232.2:p.Leu1647Pro
ENST00000497886.5:n.2972T>C
ENST00000568454.5:c.5081T>C	ENSP00000454487.1:p.Leu1694Pro
ENST00000569110.1:c.1431T>C
ENST00000569930.1:n.2364T>C
NM_000548.3:c.5249T>C , LRG_487t1:c.5249T>C	NP_000539.2:p.Leu1750Pro
NM_001077183.1:c.5048T>C	NP_001070651.1:p.Leu1683Pro
NM_001114382.1:c.5180T>C	NP_001107854.1:p.Leu1727Pro
XM_005255529.3:c.5120T>C	XP_005255586.2:p.Leu1707Pro
XM_005255531.3:c.5051T>C	XP_005255588.2:p.Leu1684Pro
XM_011522636.1:c.5303T>C	XP_011520938.1:p.Leu1768Pro
XM_011522637.1:c.5300T>C	XP_011520939.1:p.Leu1767Pro
XM_011522638.1:c.5192T>C	XP_011520940.1:p.Leu1731Pro
XM_011522639.1:c.5174T>C	XP_011520941.1:p.Leu1725Pro
XM_011522640.1:c.5171T>C	XP_011520942.1:p.Leu1724Pro
XM_011522641.1:c.4940T>C	XP_011520943.1:p.Leu1647Pro
NM_000548.4:c.5249T>C	NP_000539.2:p.Leu1750Pro
NM_001077183.2:c.5048T>C	NP_001070651.1:p.Leu1683Pro
NM_001114382.2:c.5180T>C	NP_001107854.1:p.Leu1727Pro
NM_001318827.1:c.4940T>C	NP_001305756.1:p.Leu1647Pro
NM_001318829.1:c.4904T>C	NP_001305758.1:p.Leu1635Pro
NM_001318831.1:c.4517T>C	NP_001305760.1:p.Leu1506Pro
NM_001318832.1:c.5081T>C	NP_001305761.1:p.Leu1694Pro
NM_001363528.1:c.5051T>C	NP_001350457.1:p.Leu1684Pro
NM_021055.2:c.5120T>C	NP_066399.2:p.Leu1707Pro
XM_005255531.4:c.5051T>C	XP_005255588.2:p.Leu1684Pro
XM_011522636.2:c.5303T>C	XP_011520938.1:p.Leu1768Pro
XM_011522637.2:c.5300T>C	XP_011520939.1:p.Leu1767Pro
XM_011522638.2:c.5465T>C	XP_011520940.2:p.Leu1822Pro
XM_011522639.2:c.5174T>C	XP_011520941.1:p.Leu1725Pro
XM_011522640.2:c.5171T>C	XP_011520942.1:p.Leu1724Pro
XM_017023615.1:c.5246T>C	XP_016879104.1:p.Leu1749Pro
XM_017023616.1:c.5117T>C	XP_016879105.1:p.Leu1706Pro
XM_017023617.1:c.5213T>C	XP_016879106.1:p.Leu1738Pro
XM_017023618.1:c.3959T>C	XP_016879107.1:p.Leu1320Pro
XM_024450413.1:c.5135T>C	XP_024306181.1:p.Leu1712Pro
NM_000548.5:c.5249T>C MANE Select	NP_000539.2:p.Leu1750Pro
NM_001370404.1:c.5117T>C	NP_001357333.1:p.Leu1706Pro
NM_001370405.1:c.5108T>C	NP_001357334.1:p.Leu1703Pro
NM_001077183.3:c.5048T>C	NP_001070651.1:p.Leu1683Pro
NM_001114382.3:c.5180T>C	NP_001107854.1:p.Leu1727Pro
NM_001318827.2:c.4940T>C	NP_001305756.1:p.Leu1647Pro
NM_001318829.2:c.4904T>C	NP_001305758.1:p.Leu1635Pro
NM_001318831.2:c.4517T>C	NP_001305760.1:p.Leu1506Pro
NM_001318832.2:c.5081T>C	NP_001305761.1:p.Leu1694Pro
NM_001363528.2:c.5051T>C	NP_001350457.1:p.Leu1684Pro
NM_021055.3:c.5120T>C	NP_066399.2:p.Leu1707Pro