Canonical Allele Identifier: CA493043690
Gene: TSC2 HGNC NCBI

Linked Data

dbSNP Id: rs45482604
MyVariant Identifiers: chr16:g.2138128C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2088127C>A , CM000678.2:g.2088127C>A GRCh38
NC_000016.9:g.2138128C>A , CM000678.1:g.2138128C>A GRCh37
NC_000016.8:g.2078129C>A NCBI36
NG_005895.1:g.43822C>A , LRG_487:g.43822C>A
NG_008617.1:g.55094G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000568566.6:c.*3497C>A ENSP00000455997.2:n.*3497C>A
ENST00000642206.2:c.4995C>A ENSP00000495146.2:p.Ala1665=
ENST00000642365.2:c.5145C>A ENSP00000495459.2:p.Ala1715=
ENST00000644417.2:c.*5661C>A ENSP00000493912.2:n.*5661C>A
ENST00000646464.2:c.*7897C>A ENSP00000496610.2:n.*7897C>A
ENST00000219476.9:c.5148C>A MANE Select ENSP00000219476.3:p.Ala1716=
ENST00000350773.9:c.5079C>A ENSP00000344383.4:p.Ala1693=
ENST00000401874.7:c.4947C>A ENSP00000384468.2:p.Ala1649=
ENST00000568454.6:c.4980C>A ENSP00000454487.1:p.Ala1660=
ENST00000569110.2:c.1371C>A
ENST00000569930.2:n.3030C>A
ENST00000642365.1:c.3802C>A
ENST00000642561.1:c.5019C>A ENSP00000495099.1:p.Ala1673=
ENST00000642791.1:n.745C>A
ENST00000642797.1:c.4950C>A ENSP00000493846.1:p.Ala1650=
ENST00000642936.1:c.5016C>A ENSP00000494514.1:p.Ala1672=
ENST00000643088.1:c.4941C>A ENSP00000494747.1:p.Ala1647=
ENST00000643426.1:n.2796C>A
ENST00000643946.1:c.5073C>A ENSP00000495927.1:p.Ala1691=
ENST00000644043.1:c.5019C>A ENSP00000496262.1:p.Ala1673=
ENST00000644329.1:c.4947C>A ENSP00000496611.1:p.Ala1649=
ENST00000644335.1:c.4944C>A ENSP00000496317.1:p.Ala1648=
ENST00000644399.1:c.5069C>A
ENST00000645024.1:n.3232C>A
ENST00000646388.1:c.5142C>A ENSP00000495921.1:p.Ala1714=
ENST00000646634.1:n.3963C>A
ENST00000646674.1:n.2400C>A
ENST00000647042.1:n.2371C>A
ENST00000647180.1:n.2261C>A
ENST00000219476.7:c.5148C>A ENSP00000219476.3:p.Ala1716=
ENST00000350773.8:c.5079C>A ENSP00000344383.4:p.Ala1693=
ENST00000382538.10:c.4803C>A ENSP00000371978.6:p.Ala1601=
ENST00000401874.6:c.4947C>A ENSP00000384468.2:p.Ala1649=
ENST00000439117.6:c.*4315C>A ENSP00000406980.2:n.*4315C>A
ENST00000439673.6:c.4839C>A ENSP00000399232.2:p.Ala1613=
ENST00000497886.5:n.2871C>A
ENST00000568454.5:c.4980C>A ENSP00000454487.1:p.Ala1660=
ENST00000569110.1:c.1330C>A
ENST00000569930.1:n.2263C>A
NM_000548.3:c.5148C>A , LRG_487t1:c.5148C>A NP_000539.2:p.Ala1716=
NM_001077183.1:c.4947C>A NP_001070651.1:p.Ala1649=
NM_001114382.1:c.5079C>A NP_001107854.1:p.Ala1693=
XM_005255529.3:c.5019C>A XP_005255586.2:p.Ala1673=
XM_005255531.3:c.4950C>A XP_005255588.2:p.Ala1650=
XM_011522636.1:c.5202C>A XP_011520938.1:p.Ala1734=
XM_011522637.1:c.5199C>A XP_011520939.1:p.Ala1733=
XM_011522638.1:c.5091C>A XP_011520940.1:p.Ala1697=
XM_011522639.1:c.5073C>A XP_011520941.1:p.Ala1691=
XM_011522640.1:c.5070C>A XP_011520942.1:p.Ala1690=
XM_011522641.1:c.4839C>A XP_011520943.1:p.Ala1613=
NM_000548.4:c.5148C>A NP_000539.2:p.Ala1716=
NM_001077183.2:c.4947C>A NP_001070651.1:p.Ala1649=
NM_001114382.2:c.5079C>A NP_001107854.1:p.Ala1693=
NM_001318827.1:c.4839C>A NP_001305756.1:p.Ala1613=
NM_001318829.1:c.4803C>A NP_001305758.1:p.Ala1601=
NM_001318831.1:c.4416C>A NP_001305760.1:p.Ala1472=
NM_001318832.1:c.4980C>A NP_001305761.1:p.Ala1660=
NM_001363528.1:c.4950C>A NP_001350457.1:p.Ala1650=
NM_021055.2:c.5019C>A NP_066399.2:p.Ala1673=
XM_005255531.4:c.4950C>A XP_005255588.2:p.Ala1650=
XM_011522636.2:c.5202C>A XP_011520938.1:p.Ala1734=
XM_011522637.2:c.5199C>A XP_011520939.1:p.Ala1733=
XM_011522638.2:c.5364C>A XP_011520940.2:p.Ala1788=
XM_011522639.2:c.5073C>A XP_011520941.1:p.Ala1691=
XM_011522640.2:c.5070C>A XP_011520942.1:p.Ala1690=
XM_017023615.1:c.5145C>A XP_016879104.1:p.Ala1715=
XM_017023616.1:c.5016C>A XP_016879105.1:p.Ala1672=
XM_017023617.1:c.5112C>A XP_016879106.1:p.Ala1704=
XM_017023618.1:c.3858C>A XP_016879107.1:p.Ala1286=
XM_024450413.1:c.4947C>A XP_024306181.1:p.Ala1649=
NM_000548.5:c.5148C>A MANE Select NP_000539.2:p.Ala1716=
NM_001370404.1:c.5016C>A NP_001357333.1:p.Ala1672=
NM_001370405.1:c.5019C>A NP_001357334.1:p.Ala1673=
NM_001077183.3:c.4947C>A NP_001070651.1:p.Ala1649=
NM_001114382.3:c.5079C>A NP_001107854.1:p.Ala1693=
NM_001318827.2:c.4839C>A NP_001305756.1:p.Ala1613=
NM_001318829.2:c.4803C>A NP_001305758.1:p.Ala1601=
NM_001318831.2:c.4416C>A NP_001305760.1:p.Ala1472=
NM_001318832.2:c.4980C>A NP_001305761.1:p.Ala1660=
NM_001363528.2:c.4950C>A NP_001350457.1:p.Ala1650=
NM_021055.3:c.5019C>A NP_066399.2:p.Ala1673=