Canonical Allele Identifier: CA015900

Gene: TSC2

Linked Data

• ClinVar Variation Id: 49176
• ClinVar RCV Id: RCV000042432 ; RCV001213061
• dbSNP Id: rs137854260
• MyVariant Identifiers: chr16:g.2120566_2120568dupGCA (hg19) ; chr16:g.2070565_2070567dupGCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2070565_2070567dup , CM000678.2:g.2070565_2070567dup	GRCh38
NC_000016.9:g.2120566_2120568dup , CM000678.1:g.2120566_2120568dup	GRCh37
NC_000016.8:g.2060567_2060569dup	NCBI36
NG_005895.1:g.26260_26262dup , LRG_487:g.26260_26262dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*373_*375dup	ENSP00000455997.2:n.*373_*375dup
ENST00000642206.2:c.1871_1873dup	ENSP00000495146.2:p.Ser624_Ile625insSer
ENST00000642365.2:c.1826_1828dup	ENSP00000495459.2:p.Ser609_Ile610insSer
ENST00000644417.2:c.*1263_*1265dup	ENSP00000493912.2:n.*1263_*1265dup
ENST00000646464.2:c.*1431_*1433dup	ENSP00000496610.2:n.*1431_*1433dup
ENST00000219476.9:c.1826_1828dup MANE Select	ENSP00000219476.3:p.Ser609_Ile610insSer
ENST00000350773.9:c.1826_1828dup	ENSP00000344383.4:p.Ser609_Ile610insSer
ENST00000401874.7:c.1826_1828dup	ENSP00000384468.2:p.Ser609_Ile610insSer
ENST00000568454.6:c.1859_1861dup	ENSP00000454487.1:p.Ser620_Ile621insSer
ENST00000642365.1:c.483_485dup
ENST00000642561.1:c.1826_1828dup	ENSP00000495099.1:p.Ser609_Ile610insSer
ENST00000642797.1:c.1826_1828dup	ENSP00000493846.1:p.Ser609_Ile610insSer
ENST00000642936.1:c.1826_1828dup	ENSP00000494514.1:p.Ser609_Ile610insSer
ENST00000643088.1:c.1826_1828dup	ENSP00000494747.1:p.Ser609_Ile610insSer
ENST00000643298.1:c.*1328_*1330dup	ENSP00000494393.1:n.*1328_*1330dup
ENST00000643946.1:c.1826_1828dup	ENSP00000495927.1:p.Ser609_Ile610insSer
ENST00000644043.1:c.1826_1828dup	ENSP00000496262.1:p.Ser609_Ile610insSer
ENST00000644135.1:c.*326_*328dup	ENSP00000495644.1:n.*326_*328dup
ENST00000644329.1:c.1826_1828dup	ENSP00000496611.1:p.Ser609_Ile610insSer
ENST00000644335.1:c.1826_1828dup	ENSP00000496317.1:p.Ser609_Ile610insSer
ENST00000644399.1:c.1819_1821dup
ENST00000644847.1:n.818_820dup
ENST00000645552.1:n.106_108dup
ENST00000646388.1:c.1826_1828dup	ENSP00000495921.1:p.Ser609_Ile610insSer
ENST00000646634.1:n.839_841dup
ENST00000219476.7:c.1826_1828dup	ENSP00000219476.3:p.Ser609_Ile610insSer
ENST00000350773.8:c.1826_1828dup	ENSP00000344383.4:p.Ser609_Ile610insSer
ENST00000382538.10:c.1679_1681dup	ENSP00000371978.6:p.Ser560_Ile561insSer
ENST00000401874.6:c.1826_1828dup	ENSP00000384468.2:p.Ser609_Ile610insSer
ENST00000439117.6:c.*1125_*1127dup	ENSP00000406980.2:n.*1125_*1127dup
ENST00000439673.6:c.1715_1717dup	ENSP00000399232.2:p.Ser572_Ile573insSer
ENST00000488675.5:n.333_335dup
ENST00000562474.1:n.551_553dup
ENST00000568454.5:c.1859_1861dup	ENSP00000454487.1:p.Ser620_Ile621insSer
ENST00000568566.5:c.466_468dup	ENSP00000455997.1:n.466_468dup
NM_000548.3:c.1826_1828dup , LRG_487t1:c.1826_1828dup	NP_000539.2:p.Ser609_Ile610insSer
NM_001077183.1:c.1826_1828dup	NP_001070651.1:p.Ser609_Ile610insSer
NM_001114382.1:c.1826_1828dup	NP_001107854.1:p.Ser609_Ile610insSer
XM_005255529.3:c.1826_1828dup	XP_005255586.2:p.Ser609_Ile610insSer
XM_005255531.3:c.1826_1828dup	XP_005255588.2:p.Ser609_Ile610insSer
XM_011522636.1:c.1826_1828dup	XP_011520938.1:p.Ser609_Ile610insSer
XM_011522637.1:c.1826_1828dup	XP_011520939.1:p.Ser609_Ile610insSer
XM_011522638.1:c.1715_1717dup	XP_011520940.1:p.Ser572_Ile573insSer
XM_011522639.1:c.1826_1828dup	XP_011520941.1:p.Ser609_Ile610insSer
XM_011522640.1:c.1826_1828dup	XP_011520942.1:p.Ser609_Ile610insSer
XM_011522641.1:c.1715_1717dup	XP_011520943.1:p.Ser572_Ile573insSer
NM_000548.4:c.1826_1828dup	NP_000539.2:p.Ser609_Ile610insSer
NM_001077183.2:c.1826_1828dup	NP_001070651.1:p.Ser609_Ile610insSer
NM_001114382.2:c.1826_1828dup	NP_001107854.1:p.Ser609_Ile610insSer
NM_001318827.1:c.1715_1717dup	NP_001305756.1:p.Ser572_Ile573insSer
NM_001318829.1:c.1679_1681dup	NP_001305758.1:p.Ser560_Ile561insSer
NM_001318831.1:c.1226_1228dup	NP_001305760.1:p.Ser409_Ile410insSer
NM_001318832.1:c.1859_1861dup	NP_001305761.1:p.Ser620_Ile621insSer
NM_001363528.1:c.1826_1828dup	NP_001350457.1:p.Ser609_Ile610insSer
NM_021055.2:c.1826_1828dup	NP_066399.2:p.Ser609_Ile610insSer
XM_005255531.4:c.1826_1828dup	XP_005255588.2:p.Ser609_Ile610insSer
XM_011522636.2:c.1826_1828dup	XP_011520938.1:p.Ser609_Ile610insSer
XM_011522637.2:c.1826_1828dup	XP_011520939.1:p.Ser609_Ile610insSer
XM_011522638.2:c.1988_1990dup	XP_011520940.2:p.Ser663_Ile664insSer
XM_011522639.2:c.1826_1828dup	XP_011520941.1:p.Ser609_Ile610insSer
XM_011522640.2:c.1826_1828dup	XP_011520942.1:p.Ser609_Ile610insSer
XM_017023615.1:c.1826_1828dup	XP_016879104.1:p.Ser609_Ile610insSer
XM_017023616.1:c.1826_1828dup	XP_016879105.1:p.Ser609_Ile610insSer
XM_017023617.1:c.1988_1990dup	XP_016879106.1:p.Ser663_Ile664insSer
XM_017023618.1:c.482_484dup	XP_016879107.1:p.Ser161_Ile162insSer
XM_024450413.1:c.1826_1828dup	XP_024306181.1:p.Ser609_Ile610insSer
NM_000548.5:c.1826_1828dup MANE Select	NP_000539.2:p.Ser609_Ile610insSer
NM_001370404.1:c.1826_1828dup	NP_001357333.1:p.Ser609_Ile610insSer
NM_001370405.1:c.1826_1828dup	NP_001357334.1:p.Ser609_Ile610insSer
NM_001077183.3:c.1826_1828dup	NP_001070651.1:p.Ser609_Ile610insSer
NM_001114382.3:c.1826_1828dup	NP_001107854.1:p.Ser609_Ile610insSer
NM_001318827.2:c.1715_1717dup	NP_001305756.1:p.Ser572_Ile573insSer
NM_001318829.2:c.1679_1681dup	NP_001305758.1:p.Ser560_Ile561insSer
NM_001318831.2:c.1226_1228dup	NP_001305760.1:p.Ser409_Ile410insSer
NM_001318832.2:c.1859_1861dup	NP_001305761.1:p.Ser620_Ile621insSer
NM_001363528.2:c.1826_1828dup	NP_001350457.1:p.Ser609_Ile610insSer
NM_021055.3:c.1826_1828dup	NP_066399.2:p.Ser609_Ile610insSer