Canonical Allele Identifier: CA492958371

Gene: TSC2

Linked Data

• ClinVar Variation Id: 468106
• ClinVar RCV Id: RCV000531687 ; RCV002330905
• dbSNP Id: rs1555515315
• MyVariant Identifiers: chr16:g.2135284C>T (hg19) ; chr16:g.2085283C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2972C>T	ENSP00000455997.2:n.*2972C>T
ENST00000642206.2:c.4470C>T	ENSP00000495146.2:p.Asp1490=
ENST00000642365.2:c.4620C>T	ENSP00000495459.2:p.Asp1540=
ENST00000644417.2:c.*5003C>T	ENSP00000493912.2:n.*5003C>T
ENST00000646464.2:c.*7372C>T	ENSP00000496610.2:n.*7372C>T
ENST00000219476.9:c.4623C>T MANE Select	ENSP00000219476.3:p.Asp1541=
ENST00000350773.9:c.4554C>T	ENSP00000344383.4:p.Asp1518=
ENST00000401874.7:c.4422C>T	ENSP00000384468.2:p.Asp1474=
ENST00000568454.6:c.4455C>T	ENSP00000454487.1:p.Asp1485=
ENST00000569110.2:c.846C>T
ENST00000569930.2:n.2505C>T
ENST00000642365.1:c.3277C>T
ENST00000642561.1:c.4494C>T	ENSP00000495099.1:p.Asp1498=
ENST00000642728.1:n.805C>T
ENST00000642791.1:n.220C>T
ENST00000642797.1:c.4425C>T	ENSP00000493846.1:p.Asp1475=
ENST00000642936.1:c.4491C>T	ENSP00000494514.1:p.Asp1497=
ENST00000643088.1:c.4416C>T	ENSP00000494747.1:p.Asp1472=
ENST00000643177.1:n.637C>T
ENST00000643426.1:n.2271C>T
ENST00000643946.1:c.4548C>T	ENSP00000495927.1:p.Asp1516=
ENST00000644043.1:c.4494C>T	ENSP00000496262.1:p.Asp1498=
ENST00000644278.1:n.105C>T
ENST00000644329.1:c.4422C>T	ENSP00000496611.1:p.Asp1474=
ENST00000644335.1:c.4419C>T	ENSP00000496317.1:p.Asp1473=
ENST00000644399.1:c.4544C>T
ENST00000645024.1:n.2707C>T
ENST00000646388.1:c.4617C>T	ENSP00000495921.1:p.Asp1539=
ENST00000646634.1:n.3438C>T
ENST00000646674.1:n.1875C>T
ENST00000647042.1:n.1846C>T
ENST00000647180.1:n.1736C>T
ENST00000219476.7:c.4623C>T	ENSP00000219476.3:p.Asp1541=
ENST00000350773.8:c.4554C>T	ENSP00000344383.4:p.Asp1518=
ENST00000382538.10:c.4278C>T	ENSP00000371978.6:p.Asp1426=
ENST00000401874.6:c.4422C>T	ENSP00000384468.2:p.Asp1474=
ENST00000439117.6:c.*3790C>T	ENSP00000406980.2:n.*3790C>T
ENST00000439673.6:c.4314C>T	ENSP00000399232.2:p.Asp1438=
ENST00000497886.5:n.2381C>T
ENST00000568454.5:c.4455C>T	ENSP00000454487.1:p.Asp1485=
ENST00000569110.1:c.805C>T
ENST00000569930.1:n.1738C>T
NM_000548.3:c.4623C>T , LRG_487t1:c.4623C>T	NP_000539.2:p.Asp1541=
NM_001077183.1:c.4422C>T	NP_001070651.1:p.Asp1474=
NM_001114382.1:c.4554C>T	NP_001107854.1:p.Asp1518=
XM_005255529.3:c.4494C>T	XP_005255586.2:p.Asp1498=
XM_005255531.3:c.4425C>T	XP_005255588.2:p.Asp1475=
XM_011522636.1:c.4677C>T	XP_011520938.1:p.Asp1559=
XM_011522637.1:c.4674C>T	XP_011520939.1:p.Asp1558=
XM_011522638.1:c.4566C>T	XP_011520940.1:p.Asp1522=
XM_011522639.1:c.4548C>T	XP_011520941.1:p.Asp1516=
XM_011522640.1:c.4545C>T	XP_011520942.1:p.Asp1515=
XM_011522641.1:c.4314C>T	XP_011520943.1:p.Asp1438=
NM_000548.4:c.4623C>T	NP_000539.2:p.Asp1541=
NM_001077183.2:c.4422C>T	NP_001070651.1:p.Asp1474=
NM_001114382.2:c.4554C>T	NP_001107854.1:p.Asp1518=
NM_001318827.1:c.4314C>T	NP_001305756.1:p.Asp1438=
NM_001318829.1:c.4278C>T	NP_001305758.1:p.Asp1426=
NM_001318831.1:c.3891C>T	NP_001305760.1:p.Asp1297=
NM_001318832.1:c.4455C>T	NP_001305761.1:p.Asp1485=
NM_001363528.1:c.4425C>T	NP_001350457.1:p.Asp1475=
NM_021055.2:c.4494C>T	NP_066399.2:p.Asp1498=
XM_005255531.4:c.4425C>T	XP_005255588.2:p.Asp1475=
XM_011522636.2:c.4677C>T	XP_011520938.1:p.Asp1559=
XM_011522637.2:c.4674C>T	XP_011520939.1:p.Asp1558=
XM_011522638.2:c.4839C>T	XP_011520940.2:p.Asp1613=
XM_011522639.2:c.4548C>T	XP_011520941.1:p.Asp1516=
XM_011522640.2:c.4545C>T	XP_011520942.1:p.Asp1515=
XM_017023615.1:c.4620C>T	XP_016879104.1:p.Asp1540=
XM_017023616.1:c.4491C>T	XP_016879105.1:p.Asp1497=
XM_017023617.1:c.4587C>T	XP_016879106.1:p.Asp1529=
XM_017023618.1:c.3333C>T	XP_016879107.1:p.Asp1111=
XM_024450413.1:c.4422C>T	XP_024306181.1:p.Asp1474=
NM_000548.5:c.4623C>T MANE Select	NP_000539.2:p.Asp1541=
NM_001370404.1:c.4491C>T	NP_001357333.1:p.Asp1497=
NM_001370405.1:c.4494C>T	NP_001357334.1:p.Asp1498=
NM_001077183.3:c.4422C>T	NP_001070651.1:p.Asp1474=
NM_001114382.3:c.4554C>T	NP_001107854.1:p.Asp1518=
NM_001318827.2:c.4314C>T	NP_001305756.1:p.Asp1438=
NM_001318829.2:c.4278C>T	NP_001305758.1:p.Asp1426=
NM_001318831.2:c.3891C>T	NP_001305760.1:p.Asp1297=
NM_001318832.2:c.4455C>T	NP_001305761.1:p.Asp1485=
NM_001363528.2:c.4425C>T	NP_001350457.1:p.Asp1475=
NM_021055.3:c.4494C>T	NP_066399.2:p.Asp1498=