Canonical Allele Identifier: CA020928

Gene: TSC2

Linked Data

• ClinVar Variation Id: 65367
• ClinVar RCV Id: RCV000055592 ; RCV002513725
• dbSNP Id: rs397515277
• MyVariant Identifiers: chr16:g.2136238C>G (hg19) ; chr16:g.2086237C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2086237C>G , CM000678.2:g.2086237C>G	GRCh38
NC_000016.9:g.2136238C>G , CM000678.1:g.2136238C>G	GRCh37
NC_000016.8:g.2076239C>G	NCBI36
NG_005895.1:g.41932C>G , LRG_487:g.41932C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3056C>G	ENSP00000455997.2:n.*3056C>G
ENST00000642206.2:c.4554C>G	ENSP00000495146.2:p.Tyr1518Ter
ENST00000642365.2:c.4704C>G	ENSP00000495459.2:p.Tyr1568Ter
ENST00000644417.2:c.*5220C>G	ENSP00000493912.2:n.*5220C>G
ENST00000646464.2:c.*7456C>G	ENSP00000496610.2:n.*7456C>G
ENST00000219476.9:c.4707C>G MANE Select	ENSP00000219476.3:p.Tyr1569Ter
ENST00000350773.9:c.4638C>G	ENSP00000344383.4:p.Tyr1546Ter
ENST00000401874.7:c.4506C>G	ENSP00000384468.2:p.Tyr1502Ter
ENST00000568454.6:c.4539C>G	ENSP00000454487.1:p.Tyr1513Ter
ENST00000569110.2:c.930C>G
ENST00000569930.2:n.2589C>G
ENST00000642365.1:c.3361C>G
ENST00000642561.1:c.4578C>G	ENSP00000495099.1:p.Tyr1526Ter
ENST00000642728.1:n.889C>G
ENST00000642791.1:n.304C>G
ENST00000642797.1:c.4509C>G	ENSP00000493846.1:p.Tyr1503Ter
ENST00000642936.1:c.4575C>G	ENSP00000494514.1:p.Tyr1525Ter
ENST00000643088.1:c.4500C>G	ENSP00000494747.1:p.Tyr1500Ter
ENST00000643177.1:n.721C>G
ENST00000643426.1:n.2355C>G
ENST00000643946.1:c.4632C>G	ENSP00000495927.1:p.Tyr1544Ter
ENST00000644043.1:c.4578C>G	ENSP00000496262.1:p.Tyr1526Ter
ENST00000644278.1:n.189C>G
ENST00000644329.1:c.4506C>G	ENSP00000496611.1:p.Tyr1502Ter
ENST00000644335.1:c.4503C>G	ENSP00000496317.1:p.Tyr1501Ter
ENST00000644399.1:c.4628C>G
ENST00000645024.1:n.2791C>G
ENST00000646388.1:c.4701C>G	ENSP00000495921.1:p.Tyr1567Ter
ENST00000646634.1:n.3522C>G
ENST00000646674.1:n.1959C>G
ENST00000647042.1:n.1930C>G
ENST00000647180.1:n.1820C>G
ENST00000219476.7:c.4707C>G	ENSP00000219476.3:p.Tyr1569Ter
ENST00000350773.8:c.4638C>G	ENSP00000344383.4:p.Tyr1546Ter
ENST00000382538.10:c.4362C>G	ENSP00000371978.6:p.Tyr1454Ter
ENST00000401874.6:c.4506C>G	ENSP00000384468.2:p.Tyr1502Ter
ENST00000439117.6:c.*3874C>G	ENSP00000406980.2:n.*3874C>G
ENST00000439673.6:c.4398C>G	ENSP00000399232.2:p.Tyr1466Ter
ENST00000497886.5:n.2465C>G
ENST00000568454.5:c.4539C>G	ENSP00000454487.1:p.Tyr1513Ter
ENST00000569110.1:c.889C>G
ENST00000569930.1:n.1822C>G
NM_000548.3:c.4707C>G , LRG_487t1:c.4707C>G	NP_000539.2:p.Tyr1569Ter
NM_001077183.1:c.4506C>G	NP_001070651.1:p.Tyr1502Ter
NM_001114382.1:c.4638C>G	NP_001107854.1:p.Tyr1546Ter
XM_005255529.3:c.4578C>G	XP_005255586.2:p.Tyr1526Ter
XM_005255531.3:c.4509C>G	XP_005255588.2:p.Tyr1503Ter
XM_011522636.1:c.4761C>G	XP_011520938.1:p.Tyr1587Ter
XM_011522637.1:c.4758C>G	XP_011520939.1:p.Tyr1586Ter
XM_011522638.1:c.4650C>G	XP_011520940.1:p.Tyr1550Ter
XM_011522639.1:c.4632C>G	XP_011520941.1:p.Tyr1544Ter
XM_011522640.1:c.4629C>G	XP_011520942.1:p.Tyr1543Ter
XM_011522641.1:c.4398C>G	XP_011520943.1:p.Tyr1466Ter
NM_000548.4:c.4707C>G	NP_000539.2:p.Tyr1569Ter
NM_001077183.2:c.4506C>G	NP_001070651.1:p.Tyr1502Ter
NM_001114382.2:c.4638C>G	NP_001107854.1:p.Tyr1546Ter
NM_001318827.1:c.4398C>G	NP_001305756.1:p.Tyr1466Ter
NM_001318829.1:c.4362C>G	NP_001305758.1:p.Tyr1454Ter
NM_001318831.1:c.3975C>G	NP_001305760.1:p.Tyr1325Ter
NM_001318832.1:c.4539C>G	NP_001305761.1:p.Tyr1513Ter
NM_001363528.1:c.4509C>G	NP_001350457.1:p.Tyr1503Ter
NM_021055.2:c.4578C>G	NP_066399.2:p.Tyr1526Ter
XM_005255531.4:c.4509C>G	XP_005255588.2:p.Tyr1503Ter
XM_011522636.2:c.4761C>G	XP_011520938.1:p.Tyr1587Ter
XM_011522637.2:c.4758C>G	XP_011520939.1:p.Tyr1586Ter
XM_011522638.2:c.4923C>G	XP_011520940.2:p.Tyr1641Ter
XM_011522639.2:c.4632C>G	XP_011520941.1:p.Tyr1544Ter
XM_011522640.2:c.4629C>G	XP_011520942.1:p.Tyr1543Ter
XM_017023615.1:c.4704C>G	XP_016879104.1:p.Tyr1568Ter
XM_017023616.1:c.4575C>G	XP_016879105.1:p.Tyr1525Ter
XM_017023617.1:c.4671C>G	XP_016879106.1:p.Tyr1557Ter
XM_017023618.1:c.3417C>G	XP_016879107.1:p.Tyr1139Ter
XM_024450413.1:c.4506C>G	XP_024306181.1:p.Tyr1502Ter
NM_000548.5:c.4707C>G MANE Select	NP_000539.2:p.Tyr1569Ter
NM_001370404.1:c.4575C>G	NP_001357333.1:p.Tyr1525Ter
NM_001370405.1:c.4578C>G	NP_001357334.1:p.Tyr1526Ter
NM_001077183.3:c.4506C>G	NP_001070651.1:p.Tyr1502Ter
NM_001114382.3:c.4638C>G	NP_001107854.1:p.Tyr1546Ter
NM_001318827.2:c.4398C>G	NP_001305756.1:p.Tyr1466Ter
NM_001318829.2:c.4362C>G	NP_001305758.1:p.Tyr1454Ter
NM_001318831.2:c.3975C>G	NP_001305760.1:p.Tyr1325Ter
NM_001318832.2:c.4539C>G	NP_001305761.1:p.Tyr1513Ter
NM_001363528.2:c.4509C>G	NP_001350457.1:p.Tyr1503Ter
NM_021055.3:c.4578C>G	NP_066399.2:p.Tyr1526Ter