Canonical Allele Identifier: CA055178

Gene: TSC2

Linked Data

• ClinVar Variation Id: 238086
• ClinVar RCV Id: RCV000226139 ; RCV000573071 ; RCV001697226 ; RCV003998840
• dbSNP Id: rs557200243
• ExAC: 16:2138533 C / T
• gnomAD v2: 16-2138533-C-T
• gnomAD v3: 16-2088532-C-T
• gnomAD v4: 16-2088532-C-T
• COSMIC: COSM4736836 ; COSM4736837
• MyVariant Identifiers: chr16:g.2138533C>T (hg19) ; chr16:g.2088532C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088532C>T , CM000678.2:g.2088532C>T	GRCh38
NC_000016.9:g.2138533C>T , CM000678.1:g.2138533C>T	GRCh37
NC_000016.8:g.2078534C>T	NCBI36
NG_005895.1:g.44227C>T , LRG_487:g.44227C>T
NG_008617.1:g.54689G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3695C>T	ENSP00000455997.2:n.*3695C>T
ENST00000642206.2:c.5193C>T	ENSP00000495146.2:p.Ala1731=
ENST00000642365.2:c.5343C>T	ENSP00000495459.2:p.Ala1781=
ENST00000644417.2:c.*5859C>T	ENSP00000493912.2:n.*5859C>T
ENST00000646464.2:c.*8095C>T	ENSP00000496610.2:n.*8095C>T
ENST00000219476.9:c.5346C>T MANE Select	ENSP00000219476.3:p.Ala1782=
ENST00000350773.9:c.5277C>T	ENSP00000344383.4:p.Ala1759=
ENST00000401874.7:c.5145C>T	ENSP00000384468.2:p.Ala1715=
ENST00000568454.6:c.5178C>T	ENSP00000454487.1:p.Ala1726=
ENST00000569110.2:c.1569C>T
ENST00000569930.2:n.3228C>T
ENST00000642365.1:c.4000C>T
ENST00000642561.1:c.5205C>T	ENSP00000495099.1:p.Ala1735=
ENST00000642791.1:n.943C>T
ENST00000642797.1:c.5148C>T	ENSP00000493846.1:p.Ala1716=
ENST00000642936.1:c.5214C>T	ENSP00000494514.1:p.Ala1738=
ENST00000643088.1:c.5139C>T	ENSP00000494747.1:p.Ala1713=
ENST00000643426.1:n.2994C>T
ENST00000643946.1:c.5271C>T	ENSP00000495927.1:p.Ala1757=
ENST00000644043.1:c.5217C>T	ENSP00000496262.1:p.Ala1739=
ENST00000644329.1:c.5232C>T	ENSP00000496611.1:p.Ala1744=
ENST00000644335.1:c.5142C>T	ENSP00000496317.1:p.Ala1714=
ENST00000644399.1:c.5267C>T
ENST00000645024.1:n.3430C>T
ENST00000646388.1:c.5340C>T	ENSP00000495921.1:p.Ala1780=
ENST00000646634.1:n.4161C>T
ENST00000646674.1:n.2598C>T
ENST00000647042.1:n.2569C>T
ENST00000647180.1:n.2459C>T
ENST00000219476.7:c.5346C>T	ENSP00000219476.3:p.Ala1782=
ENST00000350773.8:c.5277C>T	ENSP00000344383.4:p.Ala1759=
ENST00000382538.10:c.5001C>T	ENSP00000371978.6:p.Ala1667=
ENST00000401874.6:c.5145C>T	ENSP00000384468.2:p.Ala1715=
ENST00000439117.6:c.*4513C>T	ENSP00000406980.2:n.*4513C>T
ENST00000439673.6:c.5037C>T	ENSP00000399232.2:p.Ala1679=
ENST00000497886.5:n.3069C>T
ENST00000568454.5:c.5178C>T	ENSP00000454487.1:p.Ala1726=
ENST00000569110.1:c.1528C>T
ENST00000569930.1:n.2461C>T
NM_000548.3:c.5346C>T , LRG_487t1:c.5346C>T	NP_000539.2:p.Ala1782=
NM_001077183.1:c.5145C>T	NP_001070651.1:p.Ala1715=
NM_001114382.1:c.5277C>T	NP_001107854.1:p.Ala1759=
XM_005255529.3:c.5217C>T	XP_005255586.2:p.Ala1739=
XM_005255531.3:c.5148C>T	XP_005255588.2:p.Ala1716=
XM_011522636.1:c.5400C>T	XP_011520938.1:p.Ala1800=
XM_011522637.1:c.5397C>T	XP_011520939.1:p.Ala1799=
XM_011522638.1:c.5289C>T	XP_011520940.1:p.Ala1763=
XM_011522639.1:c.5271C>T	XP_011520941.1:p.Ala1757=
XM_011522640.1:c.5268C>T	XP_011520942.1:p.Ala1756=
XM_011522641.1:c.5037C>T	XP_011520943.1:p.Ala1679=
NM_000548.4:c.5346C>T	NP_000539.2:p.Ala1782=
NM_001077183.2:c.5145C>T	NP_001070651.1:p.Ala1715=
NM_001114382.2:c.5277C>T	NP_001107854.1:p.Ala1759=
NM_001318827.1:c.5037C>T	NP_001305756.1:p.Ala1679=
NM_001318829.1:c.5001C>T	NP_001305758.1:p.Ala1667=
NM_001318831.1:c.4614C>T	NP_001305760.1:p.Ala1538=
NM_001318832.1:c.5178C>T	NP_001305761.1:p.Ala1726=
NM_001363528.1:c.5148C>T	NP_001350457.1:p.Ala1716=
NM_021055.2:c.5217C>T	NP_066399.2:p.Ala1739=
XM_005255531.4:c.5148C>T	XP_005255588.2:p.Ala1716=
XM_011522636.2:c.5400C>T	XP_011520938.1:p.Ala1800=
XM_011522637.2:c.5397C>T	XP_011520939.1:p.Ala1799=
XM_011522638.2:c.5562C>T	XP_011520940.2:p.Ala1854=
XM_011522639.2:c.5271C>T	XP_011520941.1:p.Ala1757=
XM_011522640.2:c.5268C>T	XP_011520942.1:p.Ala1756=
XM_017023615.1:c.5343C>T	XP_016879104.1:p.Ala1781=
XM_017023616.1:c.5214C>T	XP_016879105.1:p.Ala1738=
XM_017023617.1:c.5310C>T	XP_016879106.1:p.Ala1770=
XM_017023618.1:c.4056C>T	XP_016879107.1:p.Ala1352=
XM_024450413.1:c.5232C>T	XP_024306181.1:p.Ala1744=
NM_000548.5:c.5346C>T MANE Select	NP_000539.2:p.Ala1782=
NM_001370404.1:c.5214C>T	NP_001357333.1:p.Ala1738=
NM_001370405.1:c.5205C>T	NP_001357334.1:p.Ala1735=
NM_001077183.3:c.5145C>T	NP_001070651.1:p.Ala1715=
NM_001114382.3:c.5277C>T	NP_001107854.1:p.Ala1759=
NM_001318827.2:c.5037C>T	NP_001305756.1:p.Ala1679=
NM_001318829.2:c.5001C>T	NP_001305758.1:p.Ala1667=
NM_001318831.2:c.4614C>T	NP_001305760.1:p.Ala1538=
NM_001318832.2:c.5178C>T	NP_001305761.1:p.Ala1726=
NM_001363528.2:c.5148C>T	NP_001350457.1:p.Ala1716=
NM_021055.3:c.5217C>T	NP_066399.2:p.Ala1739=