Canonical Allele Identifier: CA394304821

Gene: TSC2

Linked Data

• MyVariant Identifiers: chr16:g.2135284C>G (hg19) ; chr16:g.2085283C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2085283C>G , CM000678.2:g.2085283C>G	GRCh38
NC_000016.9:g.2135284C>G , CM000678.1:g.2135284C>G	GRCh37
NC_000016.8:g.2075285C>G	NCBI36
NG_005895.1:g.40978C>G , LRG_487:g.40978C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2972C>G	ENSP00000455997.2:n.*2972C>G
ENST00000642206.2:c.4470C>G	ENSP00000495146.2:p.Asp1490Glu
ENST00000642365.2:c.4620C>G	ENSP00000495459.2:p.Asp1540Glu
ENST00000644417.2:c.*5003C>G	ENSP00000493912.2:n.*5003C>G
ENST00000646464.2:c.*7372C>G	ENSP00000496610.2:n.*7372C>G
ENST00000219476.9:c.4623C>G MANE Select	ENSP00000219476.3:p.Asp1541Glu
ENST00000350773.9:c.4554C>G	ENSP00000344383.4:p.Asp1518Glu
ENST00000401874.7:c.4422C>G	ENSP00000384468.2:p.Asp1474Glu
ENST00000568454.6:c.4455C>G	ENSP00000454487.1:p.Asp1485Glu
ENST00000569110.2:c.846C>G
ENST00000569930.2:n.2505C>G
ENST00000642365.1:c.3277C>G
ENST00000642561.1:c.4494C>G	ENSP00000495099.1:p.Asp1498Glu
ENST00000642728.1:n.805C>G
ENST00000642791.1:n.220C>G
ENST00000642797.1:c.4425C>G	ENSP00000493846.1:p.Asp1475Glu
ENST00000642936.1:c.4491C>G	ENSP00000494514.1:p.Asp1497Glu
ENST00000643088.1:c.4416C>G	ENSP00000494747.1:p.Asp1472Glu
ENST00000643177.1:n.637C>G
ENST00000643426.1:n.2271C>G
ENST00000643946.1:c.4548C>G	ENSP00000495927.1:p.Asp1516Glu
ENST00000644043.1:c.4494C>G	ENSP00000496262.1:p.Asp1498Glu
ENST00000644278.1:n.105C>G
ENST00000644329.1:c.4422C>G	ENSP00000496611.1:p.Asp1474Glu
ENST00000644335.1:c.4419C>G	ENSP00000496317.1:p.Asp1473Glu
ENST00000644399.1:c.4544C>G
ENST00000645024.1:n.2707C>G
ENST00000646388.1:c.4617C>G	ENSP00000495921.1:p.Asp1539Glu
ENST00000646634.1:n.3438C>G
ENST00000646674.1:n.1875C>G
ENST00000647042.1:n.1846C>G
ENST00000647180.1:n.1736C>G
ENST00000219476.7:c.4623C>G	ENSP00000219476.3:p.Asp1541Glu
ENST00000350773.8:c.4554C>G	ENSP00000344383.4:p.Asp1518Glu
ENST00000382538.10:c.4278C>G	ENSP00000371978.6:p.Asp1426Glu
ENST00000401874.6:c.4422C>G	ENSP00000384468.2:p.Asp1474Glu
ENST00000439117.6:c.*3790C>G	ENSP00000406980.2:n.*3790C>G
ENST00000439673.6:c.4314C>G	ENSP00000399232.2:p.Asp1438Glu
ENST00000497886.5:n.2381C>G
ENST00000568454.5:c.4455C>G	ENSP00000454487.1:p.Asp1485Glu
ENST00000569110.1:c.805C>G
ENST00000569930.1:n.1738C>G
NM_000548.3:c.4623C>G , LRG_487t1:c.4623C>G	NP_000539.2:p.Asp1541Glu
NM_001077183.1:c.4422C>G	NP_001070651.1:p.Asp1474Glu
NM_001114382.1:c.4554C>G	NP_001107854.1:p.Asp1518Glu
XM_005255529.3:c.4494C>G	XP_005255586.2:p.Asp1498Glu
XM_005255531.3:c.4425C>G	XP_005255588.2:p.Asp1475Glu
XM_011522636.1:c.4677C>G	XP_011520938.1:p.Asp1559Glu
XM_011522637.1:c.4674C>G	XP_011520939.1:p.Asp1558Glu
XM_011522638.1:c.4566C>G	XP_011520940.1:p.Asp1522Glu
XM_011522639.1:c.4548C>G	XP_011520941.1:p.Asp1516Glu
XM_011522640.1:c.4545C>G	XP_011520942.1:p.Asp1515Glu
XM_011522641.1:c.4314C>G	XP_011520943.1:p.Asp1438Glu
NM_000548.4:c.4623C>G	NP_000539.2:p.Asp1541Glu
NM_001077183.2:c.4422C>G	NP_001070651.1:p.Asp1474Glu
NM_001114382.2:c.4554C>G	NP_001107854.1:p.Asp1518Glu
NM_001318827.1:c.4314C>G	NP_001305756.1:p.Asp1438Glu
NM_001318829.1:c.4278C>G	NP_001305758.1:p.Asp1426Glu
NM_001318831.1:c.3891C>G	NP_001305760.1:p.Asp1297Glu
NM_001318832.1:c.4455C>G	NP_001305761.1:p.Asp1485Glu
NM_001363528.1:c.4425C>G	NP_001350457.1:p.Asp1475Glu
NM_021055.2:c.4494C>G	NP_066399.2:p.Asp1498Glu
XM_005255531.4:c.4425C>G	XP_005255588.2:p.Asp1475Glu
XM_011522636.2:c.4677C>G	XP_011520938.1:p.Asp1559Glu
XM_011522637.2:c.4674C>G	XP_011520939.1:p.Asp1558Glu
XM_011522638.2:c.4839C>G	XP_011520940.2:p.Asp1613Glu
XM_011522639.2:c.4548C>G	XP_011520941.1:p.Asp1516Glu
XM_011522640.2:c.4545C>G	XP_011520942.1:p.Asp1515Glu
XM_017023615.1:c.4620C>G	XP_016879104.1:p.Asp1540Glu
XM_017023616.1:c.4491C>G	XP_016879105.1:p.Asp1497Glu
XM_017023617.1:c.4587C>G	XP_016879106.1:p.Asp1529Glu
XM_017023618.1:c.3333C>G	XP_016879107.1:p.Asp1111Glu
XM_024450413.1:c.4422C>G	XP_024306181.1:p.Asp1474Glu
NM_000548.5:c.4623C>G MANE Select	NP_000539.2:p.Asp1541Glu
NM_001370404.1:c.4491C>G	NP_001357333.1:p.Asp1497Glu
NM_001370405.1:c.4494C>G	NP_001357334.1:p.Asp1498Glu
NM_001077183.3:c.4422C>G	NP_001070651.1:p.Asp1474Glu
NM_001114382.3:c.4554C>G	NP_001107854.1:p.Asp1518Glu
NM_001318827.2:c.4314C>G	NP_001305756.1:p.Asp1438Glu
NM_001318829.2:c.4278C>G	NP_001305758.1:p.Asp1426Glu
NM_001318831.2:c.3891C>G	NP_001305760.1:p.Asp1297Glu
NM_001318832.2:c.4455C>G	NP_001305761.1:p.Asp1485Glu
NM_001363528.2:c.4425C>G	NP_001350457.1:p.Asp1475Glu
NM_021055.3:c.4494C>G	NP_066399.2:p.Asp1498Glu