Canonical Allele Identifier: CA492959981

Gene: TSC2

Linked Data

• ClinVar Variation Id: 799883
• ClinVar RCV Id: RCV000983503
• dbSNP Id: rs778989782
• MyVariant Identifiers: chr16:g.2136830C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2086829C>T , CM000678.2:g.2086829C>T	GRCh38
NC_000016.9:g.2136830C>T , CM000678.1:g.2136830C>T	GRCh37
NC_000016.8:g.2076831C>T	NCBI36
NG_005895.1:g.42524C>T , LRG_487:g.42524C>T
NG_008617.1:g.56392G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*3296C>T	ENSP00000455997.2:n.*3296C>T
ENST00000642206.2:c.4794C>T	ENSP00000495146.2:p.Val1598=
ENST00000642365.2:c.4944C>T	ENSP00000495459.2:p.Val1648=
ENST00000644417.2:c.*5460C>T	ENSP00000493912.2:n.*5460C>T
ENST00000646464.2:c.*7696C>T	ENSP00000496610.2:n.*7696C>T
ENST00000219476.9:c.4947C>T MANE Select	ENSP00000219476.3:p.Val1649=
ENST00000350773.9:c.4878C>T	ENSP00000344383.4:p.Val1626=
ENST00000401874.7:c.4746C>T	ENSP00000384468.2:p.Val1582=
ENST00000568454.6:c.4779C>T	ENSP00000454487.1:p.Val1593=
ENST00000569110.2:c.1170C>T
ENST00000569930.2:n.2829C>T
ENST00000642365.1:c.3601C>T
ENST00000642561.1:c.4818C>T	ENSP00000495099.1:p.Val1606=
ENST00000642728.1:n.1129C>T
ENST00000642791.1:n.544C>T
ENST00000642797.1:c.4749C>T	ENSP00000493846.1:p.Val1583=
ENST00000642936.1:c.4815C>T	ENSP00000494514.1:p.Val1605=
ENST00000643088.1:c.4740C>T	ENSP00000494747.1:p.Val1580=
ENST00000643177.1:n.961C>T
ENST00000643426.1:n.2595C>T
ENST00000643946.1:c.4872C>T	ENSP00000495927.1:p.Val1624=
ENST00000644043.1:c.4818C>T	ENSP00000496262.1:p.Val1606=
ENST00000644278.1:n.429C>T
ENST00000644329.1:c.4746C>T	ENSP00000496611.1:p.Val1582=
ENST00000644335.1:c.4743C>T	ENSP00000496317.1:p.Val1581=
ENST00000644399.1:c.4868C>T
ENST00000645024.1:n.3031C>T
ENST00000646388.1:c.4941C>T	ENSP00000495921.1:p.Val1647=
ENST00000646557.1:n.108C>T
ENST00000646634.1:n.3762C>T
ENST00000646674.1:n.2199C>T
ENST00000647042.1:n.2170C>T
ENST00000647180.1:n.2060C>T
ENST00000219476.7:c.4947C>T	ENSP00000219476.3:p.Val1649=
ENST00000350773.8:c.4878C>T	ENSP00000344383.4:p.Val1626=
ENST00000382538.10:c.4602C>T	ENSP00000371978.6:p.Val1534=
ENST00000401874.6:c.4746C>T	ENSP00000384468.2:p.Val1582=
ENST00000439117.6:c.*4114C>T	ENSP00000406980.2:n.*4114C>T
ENST00000439673.6:c.4638C>T	ENSP00000399232.2:p.Val1546=
ENST00000497886.5:n.2670C>T
ENST00000568454.5:c.4779C>T	ENSP00000454487.1:p.Val1593=
ENST00000569110.1:c.1129C>T
ENST00000569930.1:n.2062C>T
NM_000548.3:c.4947C>T , LRG_487t1:c.4947C>T	NP_000539.2:p.Val1649=
NM_001077183.1:c.4746C>T	NP_001070651.1:p.Val1582=
NM_001114382.1:c.4878C>T	NP_001107854.1:p.Val1626=
XM_005255529.3:c.4818C>T	XP_005255586.2:p.Val1606=
XM_005255531.3:c.4749C>T	XP_005255588.2:p.Val1583=
XM_011522636.1:c.5001C>T	XP_011520938.1:p.Val1667=
XM_011522637.1:c.4998C>T	XP_011520939.1:p.Val1666=
XM_011522638.1:c.4890C>T	XP_011520940.1:p.Val1630=
XM_011522639.1:c.4872C>T	XP_011520941.1:p.Val1624=
XM_011522640.1:c.4869C>T	XP_011520942.1:p.Val1623=
XM_011522641.1:c.4638C>T	XP_011520943.1:p.Val1546=
NM_000548.4:c.4947C>T	NP_000539.2:p.Val1649=
NM_001077183.2:c.4746C>T	NP_001070651.1:p.Val1582=
NM_001114382.2:c.4878C>T	NP_001107854.1:p.Val1626=
NM_001318827.1:c.4638C>T	NP_001305756.1:p.Val1546=
NM_001318829.1:c.4602C>T	NP_001305758.1:p.Val1534=
NM_001318831.1:c.4215C>T	NP_001305760.1:p.Val1405=
NM_001318832.1:c.4779C>T	NP_001305761.1:p.Val1593=
NM_001363528.1:c.4749C>T	NP_001350457.1:p.Val1583=
NM_021055.2:c.4818C>T	NP_066399.2:p.Val1606=
XM_005255531.4:c.4749C>T	XP_005255588.2:p.Val1583=
XM_011522636.2:c.5001C>T	XP_011520938.1:p.Val1667=
XM_011522637.2:c.4998C>T	XP_011520939.1:p.Val1666=
XM_011522638.2:c.5163C>T	XP_011520940.2:p.Val1721=
XM_011522639.2:c.4872C>T	XP_011520941.1:p.Val1624=
XM_011522640.2:c.4869C>T	XP_011520942.1:p.Val1623=
XM_017023615.1:c.4944C>T	XP_016879104.1:p.Val1648=
XM_017023616.1:c.4815C>T	XP_016879105.1:p.Val1605=
XM_017023617.1:c.4911C>T	XP_016879106.1:p.Val1637=
XM_017023618.1:c.3657C>T	XP_016879107.1:p.Val1219=
XM_024450413.1:c.4746C>T	XP_024306181.1:p.Val1582=
NM_000548.5:c.4947C>T MANE Select	NP_000539.2:p.Val1649=
NM_001370404.1:c.4815C>T	NP_001357333.1:p.Val1605=
NM_001370405.1:c.4818C>T	NP_001357334.1:p.Val1606=
NM_001077183.3:c.4746C>T	NP_001070651.1:p.Val1582=
NM_001114382.3:c.4878C>T	NP_001107854.1:p.Val1626=
NM_001318827.2:c.4638C>T	NP_001305756.1:p.Val1546=
NM_001318829.2:c.4602C>T	NP_001305758.1:p.Val1534=
NM_001318831.2:c.4215C>T	NP_001305760.1:p.Val1405=
NM_001318832.2:c.4779C>T	NP_001305761.1:p.Val1593=
NM_001363528.2:c.4749C>T	NP_001350457.1:p.Val1583=
NM_021055.3:c.4818C>T	NP_066399.2:p.Val1606=