Canonical Allele Identifier: CA394312611

Gene: TSC2

Linked Data

• ClinVar Variation Id: 1039113
• ClinVar RCV Id: RCV001342520 ; RCV003238861
• dbSNP Id: rs1420725409
• gnomAD v2: 16-2138127-C-T
• gnomAD v4: 16-2088126-C-T
• MyVariant Identifiers: chr16:g.2138127C>T (hg19) ; chr16:g.2088126C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088126C>T , CM000678.2:g.2088126C>T	GRCh38
NC_000016.9:g.2138127C>T , CM000678.1:g.2138127C>T	GRCh37
NC_000016.8:g.2078128C>T	NCBI36
NG_005895.1:g.43821C>T , LRG_487:g.43821C>T
NG_008617.1:g.55095G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*3496C>T	ENSP00000455997.2:n.*3496C>T
ENST00000642206.2:c.4994C>T	ENSP00000495146.2:p.Ala1665Val
ENST00000642365.2:c.5144C>T	ENSP00000495459.2:p.Ala1715Val
ENST00000644417.2:c.*5660C>T	ENSP00000493912.2:n.*5660C>T
ENST00000646464.2:c.*7896C>T	ENSP00000496610.2:n.*7896C>T
ENST00000219476.9:c.5147C>T MANE Select	ENSP00000219476.3:p.Ala1716Val
ENST00000350773.9:c.5078C>T	ENSP00000344383.4:p.Ala1693Val
ENST00000401874.7:c.4946C>T	ENSP00000384468.2:p.Ala1649Val
ENST00000568454.6:c.4979C>T	ENSP00000454487.1:p.Ala1660Val
ENST00000569110.2:c.1370C>T
ENST00000569930.2:n.3029C>T
ENST00000642365.1:c.3801C>T
ENST00000642561.1:c.5018C>T	ENSP00000495099.1:p.Ala1673Val
ENST00000642791.1:n.744C>T
ENST00000642797.1:c.4949C>T	ENSP00000493846.1:p.Ala1650Val
ENST00000642936.1:c.5015C>T	ENSP00000494514.1:p.Ala1672Val
ENST00000643088.1:c.4940C>T	ENSP00000494747.1:p.Ala1647Val
ENST00000643426.1:n.2795C>T
ENST00000643946.1:c.5072C>T	ENSP00000495927.1:p.Ala1691Val
ENST00000644043.1:c.5018C>T	ENSP00000496262.1:p.Ala1673Val
ENST00000644329.1:c.4946C>T	ENSP00000496611.1:p.Ala1649Val
ENST00000644335.1:c.4943C>T	ENSP00000496317.1:p.Ala1648Val
ENST00000644399.1:c.5068C>T
ENST00000645024.1:n.3231C>T
ENST00000646388.1:c.5141C>T	ENSP00000495921.1:p.Ala1714Val
ENST00000646634.1:n.3962C>T
ENST00000646674.1:n.2399C>T
ENST00000647042.1:n.2370C>T
ENST00000647180.1:n.2260C>T
ENST00000219476.7:c.5147C>T	ENSP00000219476.3:p.Ala1716Val
ENST00000350773.8:c.5078C>T	ENSP00000344383.4:p.Ala1693Val
ENST00000382538.10:c.4802C>T	ENSP00000371978.6:p.Ala1601Val
ENST00000401874.6:c.4946C>T	ENSP00000384468.2:p.Ala1649Val
ENST00000439117.6:c.*4314C>T	ENSP00000406980.2:n.*4314C>T
ENST00000439673.6:c.4838C>T	ENSP00000399232.2:p.Ala1613Val
ENST00000497886.5:n.2870C>T
ENST00000568454.5:c.4979C>T	ENSP00000454487.1:p.Ala1660Val
ENST00000569110.1:c.1329C>T
ENST00000569930.1:n.2262C>T
NM_000548.3:c.5147C>T , LRG_487t1:c.5147C>T	NP_000539.2:p.Ala1716Val
NM_001077183.1:c.4946C>T	NP_001070651.1:p.Ala1649Val
NM_001114382.1:c.5078C>T	NP_001107854.1:p.Ala1693Val
XM_005255529.3:c.5018C>T	XP_005255586.2:p.Ala1673Val
XM_005255531.3:c.4949C>T	XP_005255588.2:p.Ala1650Val
XM_011522636.1:c.5201C>T	XP_011520938.1:p.Ala1734Val
XM_011522637.1:c.5198C>T	XP_011520939.1:p.Ala1733Val
XM_011522638.1:c.5090C>T	XP_011520940.1:p.Ala1697Val
XM_011522639.1:c.5072C>T	XP_011520941.1:p.Ala1691Val
XM_011522640.1:c.5069C>T	XP_011520942.1:p.Ala1690Val
XM_011522641.1:c.4838C>T	XP_011520943.1:p.Ala1613Val
NM_000548.4:c.5147C>T	NP_000539.2:p.Ala1716Val
NM_001077183.2:c.4946C>T	NP_001070651.1:p.Ala1649Val
NM_001114382.2:c.5078C>T	NP_001107854.1:p.Ala1693Val
NM_001318827.1:c.4838C>T	NP_001305756.1:p.Ala1613Val
NM_001318829.1:c.4802C>T	NP_001305758.1:p.Ala1601Val
NM_001318831.1:c.4415C>T	NP_001305760.1:p.Ala1472Val
NM_001318832.1:c.4979C>T	NP_001305761.1:p.Ala1660Val
NM_001363528.1:c.4949C>T	NP_001350457.1:p.Ala1650Val
NM_021055.2:c.5018C>T	NP_066399.2:p.Ala1673Val
XM_005255531.4:c.4949C>T	XP_005255588.2:p.Ala1650Val
XM_011522636.2:c.5201C>T	XP_011520938.1:p.Ala1734Val
XM_011522637.2:c.5198C>T	XP_011520939.1:p.Ala1733Val
XM_011522638.2:c.5363C>T	XP_011520940.2:p.Ala1788Val
XM_011522639.2:c.5072C>T	XP_011520941.1:p.Ala1691Val
XM_011522640.2:c.5069C>T	XP_011520942.1:p.Ala1690Val
XM_017023615.1:c.5144C>T	XP_016879104.1:p.Ala1715Val
XM_017023616.1:c.5015C>T	XP_016879105.1:p.Ala1672Val
XM_017023617.1:c.5111C>T	XP_016879106.1:p.Ala1704Val
XM_017023618.1:c.3857C>T	XP_016879107.1:p.Ala1286Val
XM_024450413.1:c.4946C>T	XP_024306181.1:p.Ala1649Val
NM_000548.5:c.5147C>T MANE Select	NP_000539.2:p.Ala1716Val
NM_001370404.1:c.5015C>T	NP_001357333.1:p.Ala1672Val
NM_001370405.1:c.5018C>T	NP_001357334.1:p.Ala1673Val
NM_001077183.3:c.4946C>T	NP_001070651.1:p.Ala1649Val
NM_001114382.3:c.5078C>T	NP_001107854.1:p.Ala1693Val
NM_001318827.2:c.4838C>T	NP_001305756.1:p.Ala1613Val
NM_001318829.2:c.4802C>T	NP_001305758.1:p.Ala1601Val
NM_001318831.2:c.4415C>T	NP_001305760.1:p.Ala1472Val
NM_001318832.2:c.4979C>T	NP_001305761.1:p.Ala1660Val
NM_001363528.2:c.4949C>T	NP_001350457.1:p.Ala1650Val
NM_021055.3:c.5018C>T	NP_066399.2:p.Ala1673Val