Canonical Allele Identifier: CA021783

Gene: TSC2

Linked Data

• ClinVar Variation Id: 65364
• ClinVar RCV Id: RCV000055589 ; RCV002345361
• dbSNP Id: rs397515274
• MyVariant Identifiers: chr16:g.2138103T>C (hg19) ; chr16:g.2088102T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088102T>C , CM000678.2:g.2088102T>C	GRCh38
NC_000016.9:g.2138103T>C , CM000678.1:g.2138103T>C	GRCh37
NC_000016.8:g.2078104T>C	NCBI36
NG_005895.1:g.43797T>C , LRG_487:g.43797T>C
NG_008617.1:g.55119A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3472T>C	ENSP00000455997.2:n.*3472T>C
ENST00000642206.2:c.4970T>C	ENSP00000495146.2:p.Leu1657Pro
ENST00000642365.2:c.5120T>C	ENSP00000495459.2:p.Leu1707Pro
ENST00000644417.2:c.*5636T>C	ENSP00000493912.2:n.*5636T>C
ENST00000646464.2:c.*7872T>C	ENSP00000496610.2:n.*7872T>C
ENST00000219476.9:c.5123T>C MANE Select	ENSP00000219476.3:p.Leu1708Pro
ENST00000350773.9:c.5054T>C	ENSP00000344383.4:p.Leu1685Pro
ENST00000401874.7:c.4922T>C	ENSP00000384468.2:p.Leu1641Pro
ENST00000568454.6:c.4955T>C	ENSP00000454487.1:p.Leu1652Pro
ENST00000569110.2:c.1346T>C
ENST00000569930.2:n.3005T>C
ENST00000642365.1:c.3777T>C
ENST00000642561.1:c.4994T>C	ENSP00000495099.1:p.Leu1665Pro
ENST00000642791.1:n.720T>C
ENST00000642797.1:c.4925T>C	ENSP00000493846.1:p.Leu1642Pro
ENST00000642936.1:c.4991T>C	ENSP00000494514.1:p.Leu1664Pro
ENST00000643088.1:c.4916T>C	ENSP00000494747.1:p.Leu1639Pro
ENST00000643426.1:n.2771T>C
ENST00000643946.1:c.5048T>C	ENSP00000495927.1:p.Leu1683Pro
ENST00000644043.1:c.4994T>C	ENSP00000496262.1:p.Leu1665Pro
ENST00000644329.1:c.4922T>C	ENSP00000496611.1:p.Leu1641Pro
ENST00000644335.1:c.4919T>C	ENSP00000496317.1:p.Leu1640Pro
ENST00000644399.1:c.5044T>C
ENST00000645024.1:n.3207T>C
ENST00000646388.1:c.5117T>C	ENSP00000495921.1:p.Leu1706Pro
ENST00000646634.1:n.3938T>C
ENST00000646674.1:n.2375T>C
ENST00000647042.1:n.2346T>C
ENST00000647180.1:n.2236T>C
ENST00000219476.7:c.5123T>C	ENSP00000219476.3:p.Leu1708Pro
ENST00000350773.8:c.5054T>C	ENSP00000344383.4:p.Leu1685Pro
ENST00000382538.10:c.4778T>C	ENSP00000371978.6:p.Leu1593Pro
ENST00000401874.6:c.4922T>C	ENSP00000384468.2:p.Leu1641Pro
ENST00000439117.6:c.*4290T>C	ENSP00000406980.2:n.*4290T>C
ENST00000439673.6:c.4814T>C	ENSP00000399232.2:p.Leu1605Pro
ENST00000497886.5:n.2846T>C
ENST00000568454.5:c.4955T>C	ENSP00000454487.1:p.Leu1652Pro
ENST00000569110.1:c.1305T>C
ENST00000569930.1:n.2238T>C
NM_000548.3:c.5123T>C , LRG_487t1:c.5123T>C	NP_000539.2:p.Leu1708Pro
NM_001077183.1:c.4922T>C	NP_001070651.1:p.Leu1641Pro
NM_001114382.1:c.5054T>C	NP_001107854.1:p.Leu1685Pro
XM_005255529.3:c.4994T>C	XP_005255586.2:p.Leu1665Pro
XM_005255531.3:c.4925T>C	XP_005255588.2:p.Leu1642Pro
XM_011522636.1:c.5177T>C	XP_011520938.1:p.Leu1726Pro
XM_011522637.1:c.5174T>C	XP_011520939.1:p.Leu1725Pro
XM_011522638.1:c.5066T>C	XP_011520940.1:p.Leu1689Pro
XM_011522639.1:c.5048T>C	XP_011520941.1:p.Leu1683Pro
XM_011522640.1:c.5045T>C	XP_011520942.1:p.Leu1682Pro
XM_011522641.1:c.4814T>C	XP_011520943.1:p.Leu1605Pro
NM_000548.4:c.5123T>C	NP_000539.2:p.Leu1708Pro
NM_001077183.2:c.4922T>C	NP_001070651.1:p.Leu1641Pro
NM_001114382.2:c.5054T>C	NP_001107854.1:p.Leu1685Pro
NM_001318827.1:c.4814T>C	NP_001305756.1:p.Leu1605Pro
NM_001318829.1:c.4778T>C	NP_001305758.1:p.Leu1593Pro
NM_001318831.1:c.4391T>C	NP_001305760.1:p.Leu1464Pro
NM_001318832.1:c.4955T>C	NP_001305761.1:p.Leu1652Pro
NM_001363528.1:c.4925T>C	NP_001350457.1:p.Leu1642Pro
NM_021055.2:c.4994T>C	NP_066399.2:p.Leu1665Pro
XM_005255531.4:c.4925T>C	XP_005255588.2:p.Leu1642Pro
XM_011522636.2:c.5177T>C	XP_011520938.1:p.Leu1726Pro
XM_011522637.2:c.5174T>C	XP_011520939.1:p.Leu1725Pro
XM_011522638.2:c.5339T>C	XP_011520940.2:p.Leu1780Pro
XM_011522639.2:c.5048T>C	XP_011520941.1:p.Leu1683Pro
XM_011522640.2:c.5045T>C	XP_011520942.1:p.Leu1682Pro
XM_017023615.1:c.5120T>C	XP_016879104.1:p.Leu1707Pro
XM_017023616.1:c.4991T>C	XP_016879105.1:p.Leu1664Pro
XM_017023617.1:c.5087T>C	XP_016879106.1:p.Leu1696Pro
XM_017023618.1:c.3833T>C	XP_016879107.1:p.Leu1278Pro
XM_024450413.1:c.4922T>C	XP_024306181.1:p.Leu1641Pro
NM_000548.5:c.5123T>C MANE Select	NP_000539.2:p.Leu1708Pro
NM_001370404.1:c.4991T>C	NP_001357333.1:p.Leu1664Pro
NM_001370405.1:c.4994T>C	NP_001357334.1:p.Leu1665Pro
NM_001077183.3:c.4922T>C	NP_001070651.1:p.Leu1641Pro
NM_001114382.3:c.5054T>C	NP_001107854.1:p.Leu1685Pro
NM_001318827.2:c.4814T>C	NP_001305756.1:p.Leu1605Pro
NM_001318829.2:c.4778T>C	NP_001305758.1:p.Leu1593Pro
NM_001318831.2:c.4391T>C	NP_001305760.1:p.Leu1464Pro
NM_001318832.2:c.4955T>C	NP_001305761.1:p.Leu1652Pro
NM_001363528.2:c.4925T>C	NP_001350457.1:p.Leu1642Pro
NM_021055.3:c.4994T>C	NP_066399.2:p.Leu1665Pro