Canonical Allele Identifier: CA020985

Gene: TSC2

Linked Data

• ClinVar Variation Id: 50097
• ClinVar RCV Id: RCV000043363 ; RCV000201115 ; RCV000991340
• dbSNP Id: rs45479192
• MyVariant Identifiers: chr16:g.2136293C>T (hg19) ; chr16:g.2086292C>T (hg38)
• PubMed: PMID:17304050

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2086292C>T , CM000678.2:g.2086292C>T	GRCh38
NC_000016.9:g.2136293C>T , CM000678.1:g.2136293C>T	GRCh37
NC_000016.8:g.2076294C>T	NCBI36
NG_005895.1:g.41987C>T , LRG_487:g.41987C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3111C>T	ENSP00000455997.2:n.*3111C>T
ENST00000642206.2:c.4609C>T	ENSP00000495146.2:p.Gln1537Ter
ENST00000642365.2:c.4759C>T	ENSP00000495459.2:p.Gln1587Ter
ENST00000644417.2:c.*5275C>T	ENSP00000493912.2:n.*5275C>T
ENST00000646464.2:c.*7511C>T	ENSP00000496610.2:n.*7511C>T
ENST00000219476.9:c.4762C>T MANE Select	ENSP00000219476.3:p.Gln1588Ter
ENST00000350773.9:c.4693C>T	ENSP00000344383.4:p.Gln1565Ter
ENST00000401874.7:c.4561C>T	ENSP00000384468.2:p.Gln1521Ter
ENST00000568454.6:c.4594C>T	ENSP00000454487.1:p.Gln1532Ter
ENST00000569110.2:c.985C>T
ENST00000569930.2:n.2644C>T
ENST00000642365.1:c.3416C>T
ENST00000642561.1:c.4633C>T	ENSP00000495099.1:p.Gln1545Ter
ENST00000642728.1:n.944C>T
ENST00000642791.1:n.359C>T
ENST00000642797.1:c.4564C>T	ENSP00000493846.1:p.Gln1522Ter
ENST00000642936.1:c.4630C>T	ENSP00000494514.1:p.Gln1544Ter
ENST00000643088.1:c.4555C>T	ENSP00000494747.1:p.Gln1519Ter
ENST00000643177.1:n.776C>T
ENST00000643426.1:n.2410C>T
ENST00000643946.1:c.4687C>T	ENSP00000495927.1:p.Gln1563Ter
ENST00000644043.1:c.4633C>T	ENSP00000496262.1:p.Gln1545Ter
ENST00000644278.1:n.244C>T
ENST00000644329.1:c.4561C>T	ENSP00000496611.1:p.Gln1521Ter
ENST00000644335.1:c.4558C>T	ENSP00000496317.1:p.Gln1520Ter
ENST00000644399.1:c.4683C>T
ENST00000645024.1:n.2846C>T
ENST00000646388.1:c.4756C>T	ENSP00000495921.1:p.Gln1586Ter
ENST00000646634.1:n.3577C>T
ENST00000646674.1:n.2014C>T
ENST00000647042.1:n.1985C>T
ENST00000647180.1:n.1875C>T
ENST00000219476.7:c.4762C>T	ENSP00000219476.3:p.Gln1588Ter
ENST00000350773.8:c.4693C>T	ENSP00000344383.4:p.Gln1565Ter
ENST00000382538.10:c.4417C>T	ENSP00000371978.6:p.Gln1473Ter
ENST00000401874.6:c.4561C>T	ENSP00000384468.2:p.Gln1521Ter
ENST00000439117.6:c.*3929C>T	ENSP00000406980.2:n.*3929C>T
ENST00000439673.6:c.4453C>T	ENSP00000399232.2:p.Gln1485Ter
ENST00000497886.5:n.2520C>T
ENST00000568454.5:c.4594C>T	ENSP00000454487.1:p.Gln1532Ter
ENST00000569110.1:c.944C>T
ENST00000569930.1:n.1877C>T
NM_000548.3:c.4762C>T , LRG_487t1:c.4762C>T	NP_000539.2:p.Gln1588Ter
NM_001077183.1:c.4561C>T	NP_001070651.1:p.Gln1521Ter
NM_001114382.1:c.4693C>T	NP_001107854.1:p.Gln1565Ter
XM_005255529.3:c.4633C>T	XP_005255586.2:p.Gln1545Ter
XM_005255531.3:c.4564C>T	XP_005255588.2:p.Gln1522Ter
XM_011522636.1:c.4816C>T	XP_011520938.1:p.Gln1606Ter
XM_011522637.1:c.4813C>T	XP_011520939.1:p.Gln1605Ter
XM_011522638.1:c.4705C>T	XP_011520940.1:p.Gln1569Ter
XM_011522639.1:c.4687C>T	XP_011520941.1:p.Gln1563Ter
XM_011522640.1:c.4684C>T	XP_011520942.1:p.Gln1562Ter
XM_011522641.1:c.4453C>T	XP_011520943.1:p.Gln1485Ter
NM_000548.4:c.4762C>T	NP_000539.2:p.Gln1588Ter
NM_001077183.2:c.4561C>T	NP_001070651.1:p.Gln1521Ter
NM_001114382.2:c.4693C>T	NP_001107854.1:p.Gln1565Ter
NM_001318827.1:c.4453C>T	NP_001305756.1:p.Gln1485Ter
NM_001318829.1:c.4417C>T	NP_001305758.1:p.Gln1473Ter
NM_001318831.1:c.4030C>T	NP_001305760.1:p.Gln1344Ter
NM_001318832.1:c.4594C>T	NP_001305761.1:p.Gln1532Ter
NM_001363528.1:c.4564C>T	NP_001350457.1:p.Gln1522Ter
NM_021055.2:c.4633C>T	NP_066399.2:p.Gln1545Ter
XM_005255531.4:c.4564C>T	XP_005255588.2:p.Gln1522Ter
XM_011522636.2:c.4816C>T	XP_011520938.1:p.Gln1606Ter
XM_011522637.2:c.4813C>T	XP_011520939.1:p.Gln1605Ter
XM_011522638.2:c.4978C>T	XP_011520940.2:p.Gln1660Ter
XM_011522639.2:c.4687C>T	XP_011520941.1:p.Gln1563Ter
XM_011522640.2:c.4684C>T	XP_011520942.1:p.Gln1562Ter
XM_017023615.1:c.4759C>T	XP_016879104.1:p.Gln1587Ter
XM_017023616.1:c.4630C>T	XP_016879105.1:p.Gln1544Ter
XM_017023617.1:c.4726C>T	XP_016879106.1:p.Gln1576Ter
XM_017023618.1:c.3472C>T	XP_016879107.1:p.Gln1158Ter
XM_024450413.1:c.4561C>T	XP_024306181.1:p.Gln1521Ter
NM_000548.5:c.4762C>T MANE Select	NP_000539.2:p.Gln1588Ter
NM_001370404.1:c.4630C>T	NP_001357333.1:p.Gln1544Ter
NM_001370405.1:c.4633C>T	NP_001357334.1:p.Gln1545Ter
NM_001077183.3:c.4561C>T	NP_001070651.1:p.Gln1521Ter
NM_001114382.3:c.4693C>T	NP_001107854.1:p.Gln1565Ter
NM_001318827.2:c.4453C>T	NP_001305756.1:p.Gln1485Ter
NM_001318829.2:c.4417C>T	NP_001305758.1:p.Gln1473Ter
NM_001318831.2:c.4030C>T	NP_001305760.1:p.Gln1344Ter
NM_001318832.2:c.4594C>T	NP_001305761.1:p.Gln1532Ter
NM_001363528.2:c.4564C>T	NP_001350457.1:p.Gln1522Ter
NM_021055.3:c.4633C>T	NP_066399.2:p.Gln1545Ter