Canonical Allele Identifier: CA394307381

Gene: TSC2

Linked Data

• ClinVar Variation Id: 535941
• ClinVar RCV Id: RCV000644175
• dbSNP Id: rs397514905
• MyVariant Identifiers: chr16:g.2136242T>C (hg19) ; chr16:g.2086241T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2086241T>C , CM000678.2:g.2086241T>C	GRCh38
NC_000016.9:g.2136242T>C , CM000678.1:g.2136242T>C	GRCh37
NC_000016.8:g.2076243T>C	NCBI36
NG_005895.1:g.41936T>C , LRG_487:g.41936T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3060T>C	ENSP00000455997.2:n.*3060T>C
ENST00000642206.2:c.4558T>C	ENSP00000495146.2:p.Tyr1520His
ENST00000642365.2:c.4708T>C	ENSP00000495459.2:p.Tyr1570His
ENST00000644417.2:c.*5224T>C	ENSP00000493912.2:n.*5224T>C
ENST00000646464.2:c.*7460T>C	ENSP00000496610.2:n.*7460T>C
ENST00000219476.9:c.4711T>C MANE Select	ENSP00000219476.3:p.Tyr1571His
ENST00000350773.9:c.4642T>C	ENSP00000344383.4:p.Tyr1548His
ENST00000401874.7:c.4510T>C	ENSP00000384468.2:p.Tyr1504His
ENST00000568454.6:c.4543T>C	ENSP00000454487.1:p.Tyr1515His
ENST00000569110.2:c.934T>C
ENST00000569930.2:n.2593T>C
ENST00000642365.1:c.3365T>C
ENST00000642561.1:c.4582T>C	ENSP00000495099.1:p.Tyr1528His
ENST00000642728.1:n.893T>C
ENST00000642791.1:n.308T>C
ENST00000642797.1:c.4513T>C	ENSP00000493846.1:p.Tyr1505His
ENST00000642936.1:c.4579T>C	ENSP00000494514.1:p.Tyr1527His
ENST00000643088.1:c.4504T>C	ENSP00000494747.1:p.Tyr1502His
ENST00000643177.1:n.725T>C
ENST00000643426.1:n.2359T>C
ENST00000643946.1:c.4636T>C	ENSP00000495927.1:p.Tyr1546His
ENST00000644043.1:c.4582T>C	ENSP00000496262.1:p.Tyr1528His
ENST00000644278.1:n.193T>C
ENST00000644329.1:c.4510T>C	ENSP00000496611.1:p.Tyr1504His
ENST00000644335.1:c.4507T>C	ENSP00000496317.1:p.Tyr1503His
ENST00000644399.1:c.4632T>C
ENST00000645024.1:n.2795T>C
ENST00000646388.1:c.4705T>C	ENSP00000495921.1:p.Tyr1569His
ENST00000646634.1:n.3526T>C
ENST00000646674.1:n.1963T>C
ENST00000647042.1:n.1934T>C
ENST00000647180.1:n.1824T>C
ENST00000219476.7:c.4711T>C	ENSP00000219476.3:p.Tyr1571His
ENST00000350773.8:c.4642T>C	ENSP00000344383.4:p.Tyr1548His
ENST00000382538.10:c.4366T>C	ENSP00000371978.6:p.Tyr1456His
ENST00000401874.6:c.4510T>C	ENSP00000384468.2:p.Tyr1504His
ENST00000439117.6:c.*3878T>C	ENSP00000406980.2:n.*3878T>C
ENST00000439673.6:c.4402T>C	ENSP00000399232.2:p.Tyr1468His
ENST00000497886.5:n.2469T>C
ENST00000568454.5:c.4543T>C	ENSP00000454487.1:p.Tyr1515His
ENST00000569110.1:c.893T>C
ENST00000569930.1:n.1826T>C
NM_000548.3:c.4711T>C , LRG_487t1:c.4711T>C	NP_000539.2:p.Tyr1571His
NM_001077183.1:c.4510T>C	NP_001070651.1:p.Tyr1504His
NM_001114382.1:c.4642T>C	NP_001107854.1:p.Tyr1548His
XM_005255529.3:c.4582T>C	XP_005255586.2:p.Tyr1528His
XM_005255531.3:c.4513T>C	XP_005255588.2:p.Tyr1505His
XM_011522636.1:c.4765T>C	XP_011520938.1:p.Tyr1589His
XM_011522637.1:c.4762T>C	XP_011520939.1:p.Tyr1588His
XM_011522638.1:c.4654T>C	XP_011520940.1:p.Tyr1552His
XM_011522639.1:c.4636T>C	XP_011520941.1:p.Tyr1546His
XM_011522640.1:c.4633T>C	XP_011520942.1:p.Tyr1545His
XM_011522641.1:c.4402T>C	XP_011520943.1:p.Tyr1468His
NM_000548.4:c.4711T>C	NP_000539.2:p.Tyr1571His
NM_001077183.2:c.4510T>C	NP_001070651.1:p.Tyr1504His
NM_001114382.2:c.4642T>C	NP_001107854.1:p.Tyr1548His
NM_001318827.1:c.4402T>C	NP_001305756.1:p.Tyr1468His
NM_001318829.1:c.4366T>C	NP_001305758.1:p.Tyr1456His
NM_001318831.1:c.3979T>C	NP_001305760.1:p.Tyr1327His
NM_001318832.1:c.4543T>C	NP_001305761.1:p.Tyr1515His
NM_001363528.1:c.4513T>C	NP_001350457.1:p.Tyr1505His
NM_021055.2:c.4582T>C	NP_066399.2:p.Tyr1528His
XM_005255531.4:c.4513T>C	XP_005255588.2:p.Tyr1505His
XM_011522636.2:c.4765T>C	XP_011520938.1:p.Tyr1589His
XM_011522637.2:c.4762T>C	XP_011520939.1:p.Tyr1588His
XM_011522638.2:c.4927T>C	XP_011520940.2:p.Tyr1643His
XM_011522639.2:c.4636T>C	XP_011520941.1:p.Tyr1546His
XM_011522640.2:c.4633T>C	XP_011520942.1:p.Tyr1545His
XM_017023615.1:c.4708T>C	XP_016879104.1:p.Tyr1570His
XM_017023616.1:c.4579T>C	XP_016879105.1:p.Tyr1527His
XM_017023617.1:c.4675T>C	XP_016879106.1:p.Tyr1559His
XM_017023618.1:c.3421T>C	XP_016879107.1:p.Tyr1141His
XM_024450413.1:c.4510T>C	XP_024306181.1:p.Tyr1504His
NM_000548.5:c.4711T>C MANE Select	NP_000539.2:p.Tyr1571His
NM_001370404.1:c.4579T>C	NP_001357333.1:p.Tyr1527His
NM_001370405.1:c.4582T>C	NP_001357334.1:p.Tyr1528His
NM_001077183.3:c.4510T>C	NP_001070651.1:p.Tyr1504His
NM_001114382.3:c.4642T>C	NP_001107854.1:p.Tyr1548His
NM_001318827.2:c.4402T>C	NP_001305756.1:p.Tyr1468His
NM_001318829.2:c.4366T>C	NP_001305758.1:p.Tyr1456His
NM_001318831.2:c.3979T>C	NP_001305760.1:p.Tyr1327His
NM_001318832.2:c.4543T>C	NP_001305761.1:p.Tyr1515His
NM_001363528.2:c.4513T>C	NP_001350457.1:p.Tyr1505His
NM_021055.3:c.4582T>C	NP_066399.2:p.Tyr1528His