Canonical Allele Identifier: CA394304781

Gene: TSC2

Linked Data

• dbSNP Id: rs2151552039
• MyVariant Identifiers: chr16:g.2135280A>C (hg19) ; chr16:g.2085279A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2085279A>C , CM000678.2:g.2085279A>C	GRCh38
NC_000016.9:g.2135280A>C , CM000678.1:g.2135280A>C	GRCh37
NC_000016.8:g.2075281A>C	NCBI36
NG_005895.1:g.40974A>C , LRG_487:g.40974A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2968A>C	ENSP00000455997.2:n.*2968A>C
ENST00000642206.2:c.4466A>C	ENSP00000495146.2:p.Tyr1489Ser
ENST00000642365.2:c.4616A>C	ENSP00000495459.2:p.Tyr1539Ser
ENST00000644417.2:c.*4999A>C	ENSP00000493912.2:n.*4999A>C
ENST00000646464.2:c.*7368A>C	ENSP00000496610.2:n.*7368A>C
ENST00000219476.9:c.4619A>C MANE Select	ENSP00000219476.3:p.Tyr1540Ser
ENST00000350773.9:c.4550A>C	ENSP00000344383.4:p.Tyr1517Ser
ENST00000401874.7:c.4418A>C	ENSP00000384468.2:p.Tyr1473Ser
ENST00000568454.6:c.4451A>C	ENSP00000454487.1:p.Tyr1484Ser
ENST00000569110.2:c.842A>C
ENST00000569930.2:n.2501A>C
ENST00000642365.1:c.3273A>C
ENST00000642561.1:c.4490A>C	ENSP00000495099.1:p.Tyr1497Ser
ENST00000642728.1:n.801A>C
ENST00000642791.1:n.216A>C
ENST00000642797.1:c.4421A>C	ENSP00000493846.1:p.Tyr1474Ser
ENST00000642936.1:c.4487A>C	ENSP00000494514.1:p.Tyr1496Ser
ENST00000643088.1:c.4412A>C	ENSP00000494747.1:p.Tyr1471Ser
ENST00000643177.1:n.633A>C
ENST00000643426.1:n.2267A>C
ENST00000643946.1:c.4544A>C	ENSP00000495927.1:p.Tyr1515Ser
ENST00000644043.1:c.4490A>C	ENSP00000496262.1:p.Tyr1497Ser
ENST00000644278.1:n.101A>C
ENST00000644329.1:c.4418A>C	ENSP00000496611.1:p.Tyr1473Ser
ENST00000644335.1:c.4415A>C	ENSP00000496317.1:p.Tyr1472Ser
ENST00000644399.1:c.4540A>C
ENST00000645024.1:n.2703A>C
ENST00000646388.1:c.4613A>C	ENSP00000495921.1:p.Tyr1538Ser
ENST00000646634.1:n.3434A>C
ENST00000646674.1:n.1871A>C
ENST00000647042.1:n.1842A>C
ENST00000647180.1:n.1732A>C
ENST00000219476.7:c.4619A>C	ENSP00000219476.3:p.Tyr1540Ser
ENST00000350773.8:c.4550A>C	ENSP00000344383.4:p.Tyr1517Ser
ENST00000382538.10:c.4274A>C	ENSP00000371978.6:p.Tyr1425Ser
ENST00000401874.6:c.4418A>C	ENSP00000384468.2:p.Tyr1473Ser
ENST00000439117.6:c.*3786A>C	ENSP00000406980.2:n.*3786A>C
ENST00000439673.6:c.4310A>C	ENSP00000399232.2:p.Tyr1437Ser
ENST00000497886.5:n.2377A>C
ENST00000568454.5:c.4451A>C	ENSP00000454487.1:p.Tyr1484Ser
ENST00000569110.1:c.801A>C
ENST00000569930.1:n.1734A>C
NM_000548.3:c.4619A>C , LRG_487t1:c.4619A>C	NP_000539.2:p.Tyr1540Ser
NM_001077183.1:c.4418A>C	NP_001070651.1:p.Tyr1473Ser
NM_001114382.1:c.4550A>C	NP_001107854.1:p.Tyr1517Ser
XM_005255529.3:c.4490A>C	XP_005255586.2:p.Tyr1497Ser
XM_005255531.3:c.4421A>C	XP_005255588.2:p.Tyr1474Ser
XM_011522636.1:c.4673A>C	XP_011520938.1:p.Tyr1558Ser
XM_011522637.1:c.4670A>C	XP_011520939.1:p.Tyr1557Ser
XM_011522638.1:c.4562A>C	XP_011520940.1:p.Tyr1521Ser
XM_011522639.1:c.4544A>C	XP_011520941.1:p.Tyr1515Ser
XM_011522640.1:c.4541A>C	XP_011520942.1:p.Tyr1514Ser
XM_011522641.1:c.4310A>C	XP_011520943.1:p.Tyr1437Ser
NM_000548.4:c.4619A>C	NP_000539.2:p.Tyr1540Ser
NM_001077183.2:c.4418A>C	NP_001070651.1:p.Tyr1473Ser
NM_001114382.2:c.4550A>C	NP_001107854.1:p.Tyr1517Ser
NM_001318827.1:c.4310A>C	NP_001305756.1:p.Tyr1437Ser
NM_001318829.1:c.4274A>C	NP_001305758.1:p.Tyr1425Ser
NM_001318831.1:c.3887A>C	NP_001305760.1:p.Tyr1296Ser
NM_001318832.1:c.4451A>C	NP_001305761.1:p.Tyr1484Ser
NM_001363528.1:c.4421A>C	NP_001350457.1:p.Tyr1474Ser
NM_021055.2:c.4490A>C	NP_066399.2:p.Tyr1497Ser
XM_005255531.4:c.4421A>C	XP_005255588.2:p.Tyr1474Ser
XM_011522636.2:c.4673A>C	XP_011520938.1:p.Tyr1558Ser
XM_011522637.2:c.4670A>C	XP_011520939.1:p.Tyr1557Ser
XM_011522638.2:c.4835A>C	XP_011520940.2:p.Tyr1612Ser
XM_011522639.2:c.4544A>C	XP_011520941.1:p.Tyr1515Ser
XM_011522640.2:c.4541A>C	XP_011520942.1:p.Tyr1514Ser
XM_017023615.1:c.4616A>C	XP_016879104.1:p.Tyr1539Ser
XM_017023616.1:c.4487A>C	XP_016879105.1:p.Tyr1496Ser
XM_017023617.1:c.4583A>C	XP_016879106.1:p.Tyr1528Ser
XM_017023618.1:c.3329A>C	XP_016879107.1:p.Tyr1110Ser
XM_024450413.1:c.4418A>C	XP_024306181.1:p.Tyr1473Ser
NM_000548.5:c.4619A>C MANE Select	NP_000539.2:p.Tyr1540Ser
NM_001370404.1:c.4487A>C	NP_001357333.1:p.Tyr1496Ser
NM_001370405.1:c.4490A>C	NP_001357334.1:p.Tyr1497Ser
NM_001077183.3:c.4418A>C	NP_001070651.1:p.Tyr1473Ser
NM_001114382.3:c.4550A>C	NP_001107854.1:p.Tyr1517Ser
NM_001318827.2:c.4310A>C	NP_001305756.1:p.Tyr1437Ser
NM_001318829.2:c.4274A>C	NP_001305758.1:p.Tyr1425Ser
NM_001318831.2:c.3887A>C	NP_001305760.1:p.Tyr1296Ser
NM_001318832.2:c.4451A>C	NP_001305761.1:p.Tyr1484Ser
NM_001363528.2:c.4421A>C	NP_001350457.1:p.Tyr1474Ser
NM_021055.3:c.4490A>C	NP_066399.2:p.Tyr1497Ser