Canonical Allele Identifier: CA394307677

Gene: TSC2

Linked Data

• ClinVar Variation Id: 2679328
• ClinVar RCV Id: RCV003464712
• MyVariant Identifiers: chr16:g.2136275A>G (hg19) ; chr16:g.2086274A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2086274A>G , CM000678.2:g.2086274A>G	GRCh38
NC_000016.9:g.2136275A>G , CM000678.1:g.2136275A>G	GRCh37
NC_000016.8:g.2076276A>G	NCBI36
NG_005895.1:g.41969A>G , LRG_487:g.41969A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3093A>G	ENSP00000455997.2:n.*3093A>G
ENST00000642206.2:c.4591A>G	ENSP00000495146.2:p.Ile1531Val
ENST00000642365.2:c.4741A>G	ENSP00000495459.2:p.Ile1581Val
ENST00000644417.2:c.*5257A>G	ENSP00000493912.2:n.*5257A>G
ENST00000646464.2:c.*7493A>G	ENSP00000496610.2:n.*7493A>G
ENST00000219476.9:c.4744A>G MANE Select	ENSP00000219476.3:p.Ile1582Val
ENST00000350773.9:c.4675A>G	ENSP00000344383.4:p.Ile1559Val
ENST00000401874.7:c.4543A>G	ENSP00000384468.2:p.Ile1515Val
ENST00000568454.6:c.4576A>G	ENSP00000454487.1:p.Ile1526Val
ENST00000569110.2:c.967A>G
ENST00000569930.2:n.2626A>G
ENST00000642365.1:c.3398A>G
ENST00000642561.1:c.4615A>G	ENSP00000495099.1:p.Ile1539Val
ENST00000642728.1:n.926A>G
ENST00000642791.1:n.341A>G
ENST00000642797.1:c.4546A>G	ENSP00000493846.1:p.Ile1516Val
ENST00000642936.1:c.4612A>G	ENSP00000494514.1:p.Ile1538Val
ENST00000643088.1:c.4537A>G	ENSP00000494747.1:p.Ile1513Val
ENST00000643177.1:n.758A>G
ENST00000643426.1:n.2392A>G
ENST00000643946.1:c.4669A>G	ENSP00000495927.1:p.Ile1557Val
ENST00000644043.1:c.4615A>G	ENSP00000496262.1:p.Ile1539Val
ENST00000644278.1:n.226A>G
ENST00000644329.1:c.4543A>G	ENSP00000496611.1:p.Ile1515Val
ENST00000644335.1:c.4540A>G	ENSP00000496317.1:p.Ile1514Val
ENST00000644399.1:c.4665A>G
ENST00000645024.1:n.2828A>G
ENST00000646388.1:c.4738A>G	ENSP00000495921.1:p.Ile1580Val
ENST00000646634.1:n.3559A>G
ENST00000646674.1:n.1996A>G
ENST00000647042.1:n.1967A>G
ENST00000647180.1:n.1857A>G
ENST00000219476.7:c.4744A>G	ENSP00000219476.3:p.Ile1582Val
ENST00000350773.8:c.4675A>G	ENSP00000344383.4:p.Ile1559Val
ENST00000382538.10:c.4399A>G	ENSP00000371978.6:p.Ile1467Val
ENST00000401874.6:c.4543A>G	ENSP00000384468.2:p.Ile1515Val
ENST00000439117.6:c.*3911A>G	ENSP00000406980.2:n.*3911A>G
ENST00000439673.6:c.4435A>G	ENSP00000399232.2:p.Ile1479Val
ENST00000497886.5:n.2502A>G
ENST00000568454.5:c.4576A>G	ENSP00000454487.1:p.Ile1526Val
ENST00000569110.1:c.926A>G
ENST00000569930.1:n.1859A>G
NM_000548.3:c.4744A>G , LRG_487t1:c.4744A>G	NP_000539.2:p.Ile1582Val
NM_001077183.1:c.4543A>G	NP_001070651.1:p.Ile1515Val
NM_001114382.1:c.4675A>G	NP_001107854.1:p.Ile1559Val
XM_005255529.3:c.4615A>G	XP_005255586.2:p.Ile1539Val
XM_005255531.3:c.4546A>G	XP_005255588.2:p.Ile1516Val
XM_011522636.1:c.4798A>G	XP_011520938.1:p.Ile1600Val
XM_011522637.1:c.4795A>G	XP_011520939.1:p.Ile1599Val
XM_011522638.1:c.4687A>G	XP_011520940.1:p.Ile1563Val
XM_011522639.1:c.4669A>G	XP_011520941.1:p.Ile1557Val
XM_011522640.1:c.4666A>G	XP_011520942.1:p.Ile1556Val
XM_011522641.1:c.4435A>G	XP_011520943.1:p.Ile1479Val
NM_000548.4:c.4744A>G	NP_000539.2:p.Ile1582Val
NM_001077183.2:c.4543A>G	NP_001070651.1:p.Ile1515Val
NM_001114382.2:c.4675A>G	NP_001107854.1:p.Ile1559Val
NM_001318827.1:c.4435A>G	NP_001305756.1:p.Ile1479Val
NM_001318829.1:c.4399A>G	NP_001305758.1:p.Ile1467Val
NM_001318831.1:c.4012A>G	NP_001305760.1:p.Ile1338Val
NM_001318832.1:c.4576A>G	NP_001305761.1:p.Ile1526Val
NM_001363528.1:c.4546A>G	NP_001350457.1:p.Ile1516Val
NM_021055.2:c.4615A>G	NP_066399.2:p.Ile1539Val
XM_005255531.4:c.4546A>G	XP_005255588.2:p.Ile1516Val
XM_011522636.2:c.4798A>G	XP_011520938.1:p.Ile1600Val
XM_011522637.2:c.4795A>G	XP_011520939.1:p.Ile1599Val
XM_011522638.2:c.4960A>G	XP_011520940.2:p.Ile1654Val
XM_011522639.2:c.4669A>G	XP_011520941.1:p.Ile1557Val
XM_011522640.2:c.4666A>G	XP_011520942.1:p.Ile1556Val
XM_017023615.1:c.4741A>G	XP_016879104.1:p.Ile1581Val
XM_017023616.1:c.4612A>G	XP_016879105.1:p.Ile1538Val
XM_017023617.1:c.4708A>G	XP_016879106.1:p.Ile1570Val
XM_017023618.1:c.3454A>G	XP_016879107.1:p.Ile1152Val
XM_024450413.1:c.4543A>G	XP_024306181.1:p.Ile1515Val
NM_000548.5:c.4744A>G MANE Select	NP_000539.2:p.Ile1582Val
NM_001370404.1:c.4612A>G	NP_001357333.1:p.Ile1538Val
NM_001370405.1:c.4615A>G	NP_001357334.1:p.Ile1539Val
NM_001077183.3:c.4543A>G	NP_001070651.1:p.Ile1515Val
NM_001114382.3:c.4675A>G	NP_001107854.1:p.Ile1559Val
NM_001318827.2:c.4435A>G	NP_001305756.1:p.Ile1479Val
NM_001318829.2:c.4399A>G	NP_001305758.1:p.Ile1467Val
NM_001318831.2:c.4012A>G	NP_001305760.1:p.Ile1338Val
NM_001318832.2:c.4576A>G	NP_001305761.1:p.Ile1526Val
NM_001363528.2:c.4546A>G	NP_001350457.1:p.Ile1516Val
NM_021055.3:c.4615A>G	NP_066399.2:p.Ile1539Val