Canonical Allele Identifier: CA492958570

Gene: TSC2

Linked Data

• MyVariant Identifiers: chr16:g.2135302C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2085301C>A , CM000678.2:g.2085301C>A	GRCh38
NC_000016.9:g.2135302C>A , CM000678.1:g.2135302C>A	GRCh37
NC_000016.8:g.2075303C>A	NCBI36
NG_005895.1:g.40996C>A , LRG_487:g.40996C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2990C>A	ENSP00000455997.2:n.*2990C>A
ENST00000642206.2:c.4488C>A	ENSP00000495146.2:p.Val1496=
ENST00000642365.2:c.4638C>A	ENSP00000495459.2:p.Val1546=
ENST00000644417.2:c.*5021C>A	ENSP00000493912.2:n.*5021C>A
ENST00000646464.2:c.*7390C>A	ENSP00000496610.2:n.*7390C>A
ENST00000219476.9:c.4641C>A MANE Select	ENSP00000219476.3:p.Val1547=
ENST00000350773.9:c.4572C>A	ENSP00000344383.4:p.Val1524=
ENST00000401874.7:c.4440C>A	ENSP00000384468.2:p.Val1480=
ENST00000568454.6:c.4473C>A	ENSP00000454487.1:p.Val1491=
ENST00000569110.2:c.864C>A
ENST00000569930.2:n.2523C>A
ENST00000642365.1:c.3295C>A
ENST00000642561.1:c.4512C>A	ENSP00000495099.1:p.Val1504=
ENST00000642728.1:n.823C>A
ENST00000642791.1:n.238C>A
ENST00000642797.1:c.4443C>A	ENSP00000493846.1:p.Val1481=
ENST00000642936.1:c.4509C>A	ENSP00000494514.1:p.Val1503=
ENST00000643088.1:c.4434C>A	ENSP00000494747.1:p.Val1478=
ENST00000643177.1:n.655C>A
ENST00000643426.1:n.2289C>A
ENST00000643946.1:c.4566C>A	ENSP00000495927.1:p.Val1522=
ENST00000644043.1:c.4512C>A	ENSP00000496262.1:p.Val1504=
ENST00000644278.1:n.123C>A
ENST00000644329.1:c.4440C>A	ENSP00000496611.1:p.Val1480=
ENST00000644335.1:c.4437C>A	ENSP00000496317.1:p.Val1479=
ENST00000644399.1:c.4562C>A
ENST00000645024.1:n.2725C>A
ENST00000646388.1:c.4635C>A	ENSP00000495921.1:p.Val1545=
ENST00000646634.1:n.3456C>A
ENST00000646674.1:n.1893C>A
ENST00000647042.1:n.1864C>A
ENST00000647180.1:n.1754C>A
ENST00000219476.7:c.4641C>A	ENSP00000219476.3:p.Val1547=
ENST00000350773.8:c.4572C>A	ENSP00000344383.4:p.Val1524=
ENST00000382538.10:c.4296C>A	ENSP00000371978.6:p.Val1432=
ENST00000401874.6:c.4440C>A	ENSP00000384468.2:p.Val1480=
ENST00000439117.6:c.*3808C>A	ENSP00000406980.2:n.*3808C>A
ENST00000439673.6:c.4332C>A	ENSP00000399232.2:p.Val1444=
ENST00000497886.5:n.2399C>A
ENST00000568454.5:c.4473C>A	ENSP00000454487.1:p.Val1491=
ENST00000569110.1:c.823C>A
ENST00000569930.1:n.1756C>A
NM_000548.3:c.4641C>A , LRG_487t1:c.4641C>A	NP_000539.2:p.Val1547=
NM_001077183.1:c.4440C>A	NP_001070651.1:p.Val1480=
NM_001114382.1:c.4572C>A	NP_001107854.1:p.Val1524=
XM_005255529.3:c.4512C>A	XP_005255586.2:p.Val1504=
XM_005255531.3:c.4443C>A	XP_005255588.2:p.Val1481=
XM_011522636.1:c.4695C>A	XP_011520938.1:p.Val1565=
XM_011522637.1:c.4692C>A	XP_011520939.1:p.Val1564=
XM_011522638.1:c.4584C>A	XP_011520940.1:p.Val1528=
XM_011522639.1:c.4566C>A	XP_011520941.1:p.Val1522=
XM_011522640.1:c.4563C>A	XP_011520942.1:p.Val1521=
XM_011522641.1:c.4332C>A	XP_011520943.1:p.Val1444=
NM_000548.4:c.4641C>A	NP_000539.2:p.Val1547=
NM_001077183.2:c.4440C>A	NP_001070651.1:p.Val1480=
NM_001114382.2:c.4572C>A	NP_001107854.1:p.Val1524=
NM_001318827.1:c.4332C>A	NP_001305756.1:p.Val1444=
NM_001318829.1:c.4296C>A	NP_001305758.1:p.Val1432=
NM_001318831.1:c.3909C>A	NP_001305760.1:p.Val1303=
NM_001318832.1:c.4473C>A	NP_001305761.1:p.Val1491=
NM_001363528.1:c.4443C>A	NP_001350457.1:p.Val1481=
NM_021055.2:c.4512C>A	NP_066399.2:p.Val1504=
XM_005255531.4:c.4443C>A	XP_005255588.2:p.Val1481=
XM_011522636.2:c.4695C>A	XP_011520938.1:p.Val1565=
XM_011522637.2:c.4692C>A	XP_011520939.1:p.Val1564=
XM_011522638.2:c.4857C>A	XP_011520940.2:p.Val1619=
XM_011522639.2:c.4566C>A	XP_011520941.1:p.Val1522=
XM_011522640.2:c.4563C>A	XP_011520942.1:p.Val1521=
XM_017023615.1:c.4638C>A	XP_016879104.1:p.Val1546=
XM_017023616.1:c.4509C>A	XP_016879105.1:p.Val1503=
XM_017023617.1:c.4605C>A	XP_016879106.1:p.Val1535=
XM_017023618.1:c.3351C>A	XP_016879107.1:p.Val1117=
XM_024450413.1:c.4440C>A	XP_024306181.1:p.Val1480=
NM_000548.5:c.4641C>A MANE Select	NP_000539.2:p.Val1547=
NM_001370404.1:c.4509C>A	NP_001357333.1:p.Val1503=
NM_001370405.1:c.4512C>A	NP_001357334.1:p.Val1504=
NM_001077183.3:c.4440C>A	NP_001070651.1:p.Val1480=
NM_001114382.3:c.4572C>A	NP_001107854.1:p.Val1524=
NM_001318827.2:c.4332C>A	NP_001305756.1:p.Val1444=
NM_001318829.2:c.4296C>A	NP_001305758.1:p.Val1432=
NM_001318831.2:c.3909C>A	NP_001305760.1:p.Val1303=
NM_001318832.2:c.4473C>A	NP_001305761.1:p.Val1491=
NM_001363528.2:c.4443C>A	NP_001350457.1:p.Val1481=
NM_021055.3:c.4512C>A	NP_066399.2:p.Val1504=