Canonical Allele Identifier: CA020940

Gene: TSC2

Linked Data

• ClinVar Variation Id: 49518
• ClinVar RCV Id: RCV000042778 ; RCV001852890
• dbSNP Id: rs45478894
• MyVariant Identifiers: chr16:g.2136243A>G (hg19) ; chr16:g.2086242A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2086242A>G , CM000678.2:g.2086242A>G	GRCh38
NC_000016.9:g.2136243A>G , CM000678.1:g.2136243A>G	GRCh37
NC_000016.8:g.2076244A>G	NCBI36
NG_005895.1:g.41937A>G , LRG_487:g.41937A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3061A>G	ENSP00000455997.2:n.*3061A>G
ENST00000642206.2:c.4559A>G	ENSP00000495146.2:p.Tyr1520Cys
ENST00000642365.2:c.4709A>G	ENSP00000495459.2:p.Tyr1570Cys
ENST00000644417.2:c.*5225A>G	ENSP00000493912.2:n.*5225A>G
ENST00000646464.2:c.*7461A>G	ENSP00000496610.2:n.*7461A>G
ENST00000219476.9:c.4712A>G MANE Select	ENSP00000219476.3:p.Tyr1571Cys
ENST00000350773.9:c.4643A>G	ENSP00000344383.4:p.Tyr1548Cys
ENST00000401874.7:c.4511A>G	ENSP00000384468.2:p.Tyr1504Cys
ENST00000568454.6:c.4544A>G	ENSP00000454487.1:p.Tyr1515Cys
ENST00000569110.2:c.935A>G
ENST00000569930.2:n.2594A>G
ENST00000642365.1:c.3366A>G
ENST00000642561.1:c.4583A>G	ENSP00000495099.1:p.Tyr1528Cys
ENST00000642728.1:n.894A>G
ENST00000642791.1:n.309A>G
ENST00000642797.1:c.4514A>G	ENSP00000493846.1:p.Tyr1505Cys
ENST00000642936.1:c.4580A>G	ENSP00000494514.1:p.Tyr1527Cys
ENST00000643088.1:c.4505A>G	ENSP00000494747.1:p.Tyr1502Cys
ENST00000643177.1:n.726A>G
ENST00000643426.1:n.2360A>G
ENST00000643946.1:c.4637A>G	ENSP00000495927.1:p.Tyr1546Cys
ENST00000644043.1:c.4583A>G	ENSP00000496262.1:p.Tyr1528Cys
ENST00000644278.1:n.194A>G
ENST00000644329.1:c.4511A>G	ENSP00000496611.1:p.Tyr1504Cys
ENST00000644335.1:c.4508A>G	ENSP00000496317.1:p.Tyr1503Cys
ENST00000644399.1:c.4633A>G
ENST00000645024.1:n.2796A>G
ENST00000646388.1:c.4706A>G	ENSP00000495921.1:p.Tyr1569Cys
ENST00000646634.1:n.3527A>G
ENST00000646674.1:n.1964A>G
ENST00000647042.1:n.1935A>G
ENST00000647180.1:n.1825A>G
ENST00000219476.7:c.4712A>G	ENSP00000219476.3:p.Tyr1571Cys
ENST00000350773.8:c.4643A>G	ENSP00000344383.4:p.Tyr1548Cys
ENST00000382538.10:c.4367A>G	ENSP00000371978.6:p.Tyr1456Cys
ENST00000401874.6:c.4511A>G	ENSP00000384468.2:p.Tyr1504Cys
ENST00000439117.6:c.*3879A>G	ENSP00000406980.2:n.*3879A>G
ENST00000439673.6:c.4403A>G	ENSP00000399232.2:p.Tyr1468Cys
ENST00000497886.5:n.2470A>G
ENST00000568454.5:c.4544A>G	ENSP00000454487.1:p.Tyr1515Cys
ENST00000569110.1:c.894A>G
ENST00000569930.1:n.1827A>G
NM_000548.3:c.4712A>G , LRG_487t1:c.4712A>G	NP_000539.2:p.Tyr1571Cys
NM_001077183.1:c.4511A>G	NP_001070651.1:p.Tyr1504Cys
NM_001114382.1:c.4643A>G	NP_001107854.1:p.Tyr1548Cys
XM_005255529.3:c.4583A>G	XP_005255586.2:p.Tyr1528Cys
XM_005255531.3:c.4514A>G	XP_005255588.2:p.Tyr1505Cys
XM_011522636.1:c.4766A>G	XP_011520938.1:p.Tyr1589Cys
XM_011522637.1:c.4763A>G	XP_011520939.1:p.Tyr1588Cys
XM_011522638.1:c.4655A>G	XP_011520940.1:p.Tyr1552Cys
XM_011522639.1:c.4637A>G	XP_011520941.1:p.Tyr1546Cys
XM_011522640.1:c.4634A>G	XP_011520942.1:p.Tyr1545Cys
XM_011522641.1:c.4403A>G	XP_011520943.1:p.Tyr1468Cys
NM_000548.4:c.4712A>G	NP_000539.2:p.Tyr1571Cys
NM_001077183.2:c.4511A>G	NP_001070651.1:p.Tyr1504Cys
NM_001114382.2:c.4643A>G	NP_001107854.1:p.Tyr1548Cys
NM_001318827.1:c.4403A>G	NP_001305756.1:p.Tyr1468Cys
NM_001318829.1:c.4367A>G	NP_001305758.1:p.Tyr1456Cys
NM_001318831.1:c.3980A>G	NP_001305760.1:p.Tyr1327Cys
NM_001318832.1:c.4544A>G	NP_001305761.1:p.Tyr1515Cys
NM_001363528.1:c.4514A>G	NP_001350457.1:p.Tyr1505Cys
NM_021055.2:c.4583A>G	NP_066399.2:p.Tyr1528Cys
XM_005255531.4:c.4514A>G	XP_005255588.2:p.Tyr1505Cys
XM_011522636.2:c.4766A>G	XP_011520938.1:p.Tyr1589Cys
XM_011522637.2:c.4763A>G	XP_011520939.1:p.Tyr1588Cys
XM_011522638.2:c.4928A>G	XP_011520940.2:p.Tyr1643Cys
XM_011522639.2:c.4637A>G	XP_011520941.1:p.Tyr1546Cys
XM_011522640.2:c.4634A>G	XP_011520942.1:p.Tyr1545Cys
XM_017023615.1:c.4709A>G	XP_016879104.1:p.Tyr1570Cys
XM_017023616.1:c.4580A>G	XP_016879105.1:p.Tyr1527Cys
XM_017023617.1:c.4676A>G	XP_016879106.1:p.Tyr1559Cys
XM_017023618.1:c.3422A>G	XP_016879107.1:p.Tyr1141Cys
XM_024450413.1:c.4511A>G	XP_024306181.1:p.Tyr1504Cys
NM_000548.5:c.4712A>G MANE Select	NP_000539.2:p.Tyr1571Cys
NM_001370404.1:c.4580A>G	NP_001357333.1:p.Tyr1527Cys
NM_001370405.1:c.4583A>G	NP_001357334.1:p.Tyr1528Cys
NM_001077183.3:c.4511A>G	NP_001070651.1:p.Tyr1504Cys
NM_001114382.3:c.4643A>G	NP_001107854.1:p.Tyr1548Cys
NM_001318827.2:c.4403A>G	NP_001305756.1:p.Tyr1468Cys
NM_001318829.2:c.4367A>G	NP_001305758.1:p.Tyr1456Cys
NM_001318831.2:c.3980A>G	NP_001305760.1:p.Tyr1327Cys
NM_001318832.2:c.4544A>G	NP_001305761.1:p.Tyr1515Cys
NM_001363528.2:c.4514A>G	NP_001350457.1:p.Tyr1505Cys
NM_021055.3:c.4583A>G	NP_066399.2:p.Tyr1528Cys