Canonical Allele Identifier: CA394304452

Gene: TSC2

Linked Data

• ClinVar Variation Id: 1046768
• ClinVar RCV Id: RCV001351367 ; RCV004005243 ; RCV004036651
• dbSNP Id: rs769834772
• gnomAD v4: 16-2085246-G-T
• MyVariant Identifiers: chr16:g.2135247G>T (hg19) ; chr16:g.2085246G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2085246G>T , CM000678.2:g.2085246G>T	GRCh38
NC_000016.9:g.2135247G>T , CM000678.1:g.2135247G>T	GRCh37
NC_000016.8:g.2075248G>T	NCBI36
NG_005895.1:g.40941G>T , LRG_487:g.40941G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2935G>T	ENSP00000455997.2:n.*2935G>T
ENST00000642206.2:c.4433G>T	ENSP00000495146.2:p.Arg1478Leu
ENST00000642365.2:c.4583G>T	ENSP00000495459.2:p.Arg1528Leu
ENST00000644417.2:c.*4966G>T	ENSP00000493912.2:n.*4966G>T
ENST00000646464.2:c.*7335G>T	ENSP00000496610.2:n.*7335G>T
ENST00000219476.9:c.4586G>T MANE Select	ENSP00000219476.3:p.Arg1529Leu
ENST00000350773.9:c.4517G>T	ENSP00000344383.4:p.Arg1506Leu
ENST00000401874.7:c.4385G>T	ENSP00000384468.2:p.Arg1462Leu
ENST00000568454.6:c.4418G>T	ENSP00000454487.1:p.Arg1473Leu
ENST00000569110.2:c.809G>T
ENST00000569930.2:n.2468G>T
ENST00000642365.1:c.3240G>T
ENST00000642561.1:c.4457G>T	ENSP00000495099.1:p.Arg1486Leu
ENST00000642728.1:n.768G>T
ENST00000642791.1:n.183G>T
ENST00000642797.1:c.4388G>T	ENSP00000493846.1:p.Arg1463Leu
ENST00000642936.1:c.4454G>T	ENSP00000494514.1:p.Arg1485Leu
ENST00000643088.1:c.4379G>T	ENSP00000494747.1:p.Arg1460Leu
ENST00000643177.1:n.600G>T
ENST00000643426.1:n.2234G>T
ENST00000643946.1:c.4511G>T	ENSP00000495927.1:p.Arg1504Leu
ENST00000644043.1:c.4457G>T	ENSP00000496262.1:p.Arg1486Leu
ENST00000644278.1:n.68G>T
ENST00000644329.1:c.4385G>T	ENSP00000496611.1:p.Arg1462Leu
ENST00000644335.1:c.4382G>T	ENSP00000496317.1:p.Arg1461Leu
ENST00000644399.1:c.4507G>T
ENST00000645024.1:n.2670G>T
ENST00000646388.1:c.4580G>T	ENSP00000495921.1:p.Arg1527Leu
ENST00000646634.1:n.3401G>T
ENST00000646674.1:n.1838G>T
ENST00000647042.1:n.1809G>T
ENST00000647180.1:n.1699G>T
ENST00000219476.7:c.4586G>T	ENSP00000219476.3:p.Arg1529Leu
ENST00000350773.8:c.4517G>T	ENSP00000344383.4:p.Arg1506Leu
ENST00000382538.10:c.4241G>T	ENSP00000371978.6:p.Arg1414Leu
ENST00000401874.6:c.4385G>T	ENSP00000384468.2:p.Arg1462Leu
ENST00000439117.6:c.*3753G>T	ENSP00000406980.2:n.*3753G>T
ENST00000439673.6:c.4277G>T	ENSP00000399232.2:p.Arg1426Leu
ENST00000497886.5:n.2344G>T
ENST00000568454.5:c.4418G>T	ENSP00000454487.1:p.Arg1473Leu
ENST00000569110.1:c.768G>T
ENST00000569930.1:n.1701G>T
NM_000548.3:c.4586G>T , LRG_487t1:c.4586G>T	NP_000539.2:p.Arg1529Leu
NM_001077183.1:c.4385G>T	NP_001070651.1:p.Arg1462Leu
NM_001114382.1:c.4517G>T	NP_001107854.1:p.Arg1506Leu
XM_005255529.3:c.4457G>T	XP_005255586.2:p.Arg1486Leu
XM_005255531.3:c.4388G>T	XP_005255588.2:p.Arg1463Leu
XM_011522636.1:c.4640G>T	XP_011520938.1:p.Arg1547Leu
XM_011522637.1:c.4637G>T	XP_011520939.1:p.Arg1546Leu
XM_011522638.1:c.4529G>T	XP_011520940.1:p.Arg1510Leu
XM_011522639.1:c.4511G>T	XP_011520941.1:p.Arg1504Leu
XM_011522640.1:c.4508G>T	XP_011520942.1:p.Arg1503Leu
XM_011522641.1:c.4277G>T	XP_011520943.1:p.Arg1426Leu
NM_000548.4:c.4586G>T	NP_000539.2:p.Arg1529Leu
NM_001077183.2:c.4385G>T	NP_001070651.1:p.Arg1462Leu
NM_001114382.2:c.4517G>T	NP_001107854.1:p.Arg1506Leu
NM_001318827.1:c.4277G>T	NP_001305756.1:p.Arg1426Leu
NM_001318829.1:c.4241G>T	NP_001305758.1:p.Arg1414Leu
NM_001318831.1:c.3854G>T	NP_001305760.1:p.Arg1285Leu
NM_001318832.1:c.4418G>T	NP_001305761.1:p.Arg1473Leu
NM_001363528.1:c.4388G>T	NP_001350457.1:p.Arg1463Leu
NM_021055.2:c.4457G>T	NP_066399.2:p.Arg1486Leu
XM_005255531.4:c.4388G>T	XP_005255588.2:p.Arg1463Leu
XM_011522636.2:c.4640G>T	XP_011520938.1:p.Arg1547Leu
XM_011522637.2:c.4637G>T	XP_011520939.1:p.Arg1546Leu
XM_011522638.2:c.4802G>T	XP_011520940.2:p.Arg1601Leu
XM_011522639.2:c.4511G>T	XP_011520941.1:p.Arg1504Leu
XM_011522640.2:c.4508G>T	XP_011520942.1:p.Arg1503Leu
XM_017023615.1:c.4583G>T	XP_016879104.1:p.Arg1528Leu
XM_017023616.1:c.4454G>T	XP_016879105.1:p.Arg1485Leu
XM_017023617.1:c.4550G>T	XP_016879106.1:p.Arg1517Leu
XM_017023618.1:c.3296G>T	XP_016879107.1:p.Arg1099Leu
XM_024450413.1:c.4385G>T	XP_024306181.1:p.Arg1462Leu
NM_000548.5:c.4586G>T MANE Select	NP_000539.2:p.Arg1529Leu
NM_001370404.1:c.4454G>T	NP_001357333.1:p.Arg1485Leu
NM_001370405.1:c.4457G>T	NP_001357334.1:p.Arg1486Leu
NM_001077183.3:c.4385G>T	NP_001070651.1:p.Arg1462Leu
NM_001114382.3:c.4517G>T	NP_001107854.1:p.Arg1506Leu
NM_001318827.2:c.4277G>T	NP_001305756.1:p.Arg1426Leu
NM_001318829.2:c.4241G>T	NP_001305758.1:p.Arg1414Leu
NM_001318831.2:c.3854G>T	NP_001305760.1:p.Arg1285Leu
NM_001318832.2:c.4418G>T	NP_001305761.1:p.Arg1473Leu
NM_001363528.2:c.4388G>T	NP_001350457.1:p.Arg1463Leu
NM_021055.3:c.4457G>T	NP_066399.2:p.Arg1486Leu