Canonical Allele Identifier: CA394304847

Gene: TSC2

Linked Data

• ClinVar Variation Id: 570564
• ClinVar RCV Id: RCV000691448 ; RCV002259003
• dbSNP Id: rs1567528890
• MyVariant Identifiers: chr16:g.2135288C>T (hg19) ; chr16:g.2085287C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2085287C>T , CM000678.2:g.2085287C>T	GRCh38
NC_000016.9:g.2135288C>T , CM000678.1:g.2135288C>T	GRCh37
NC_000016.8:g.2075289C>T	NCBI36
NG_005895.1:g.40982C>T , LRG_487:g.40982C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2976C>T	ENSP00000455997.2:n.*2976C>T
ENST00000642206.2:c.4474C>T	ENSP00000495146.2:p.His1492Tyr
ENST00000642365.2:c.4624C>T	ENSP00000495459.2:p.His1542Tyr
ENST00000644417.2:c.*5007C>T	ENSP00000493912.2:n.*5007C>T
ENST00000646464.2:c.*7376C>T	ENSP00000496610.2:n.*7376C>T
ENST00000219476.9:c.4627C>T MANE Select	ENSP00000219476.3:p.His1543Tyr
ENST00000350773.9:c.4558C>T	ENSP00000344383.4:p.His1520Tyr
ENST00000401874.7:c.4426C>T	ENSP00000384468.2:p.His1476Tyr
ENST00000568454.6:c.4459C>T	ENSP00000454487.1:p.His1487Tyr
ENST00000569110.2:c.850C>T
ENST00000569930.2:n.2509C>T
ENST00000642365.1:c.3281C>T
ENST00000642561.1:c.4498C>T	ENSP00000495099.1:p.His1500Tyr
ENST00000642728.1:n.809C>T
ENST00000642791.1:n.224C>T
ENST00000642797.1:c.4429C>T	ENSP00000493846.1:p.His1477Tyr
ENST00000642936.1:c.4495C>T	ENSP00000494514.1:p.His1499Tyr
ENST00000643088.1:c.4420C>T	ENSP00000494747.1:p.His1474Tyr
ENST00000643177.1:n.641C>T
ENST00000643426.1:n.2275C>T
ENST00000643946.1:c.4552C>T	ENSP00000495927.1:p.His1518Tyr
ENST00000644043.1:c.4498C>T	ENSP00000496262.1:p.His1500Tyr
ENST00000644278.1:n.109C>T
ENST00000644329.1:c.4426C>T	ENSP00000496611.1:p.His1476Tyr
ENST00000644335.1:c.4423C>T	ENSP00000496317.1:p.His1475Tyr
ENST00000644399.1:c.4548C>T
ENST00000645024.1:n.2711C>T
ENST00000646388.1:c.4621C>T	ENSP00000495921.1:p.His1541Tyr
ENST00000646634.1:n.3442C>T
ENST00000646674.1:n.1879C>T
ENST00000647042.1:n.1850C>T
ENST00000647180.1:n.1740C>T
ENST00000219476.7:c.4627C>T	ENSP00000219476.3:p.His1543Tyr
ENST00000350773.8:c.4558C>T	ENSP00000344383.4:p.His1520Tyr
ENST00000382538.10:c.4282C>T	ENSP00000371978.6:p.His1428Tyr
ENST00000401874.6:c.4426C>T	ENSP00000384468.2:p.His1476Tyr
ENST00000439117.6:c.*3794C>T	ENSP00000406980.2:n.*3794C>T
ENST00000439673.6:c.4318C>T	ENSP00000399232.2:p.His1440Tyr
ENST00000497886.5:n.2385C>T
ENST00000568454.5:c.4459C>T	ENSP00000454487.1:p.His1487Tyr
ENST00000569110.1:c.809C>T
ENST00000569930.1:n.1742C>T
NM_000548.3:c.4627C>T , LRG_487t1:c.4627C>T	NP_000539.2:p.His1543Tyr
NM_001077183.1:c.4426C>T	NP_001070651.1:p.His1476Tyr
NM_001114382.1:c.4558C>T	NP_001107854.1:p.His1520Tyr
XM_005255529.3:c.4498C>T	XP_005255586.2:p.His1500Tyr
XM_005255531.3:c.4429C>T	XP_005255588.2:p.His1477Tyr
XM_011522636.1:c.4681C>T	XP_011520938.1:p.His1561Tyr
XM_011522637.1:c.4678C>T	XP_011520939.1:p.His1560Tyr
XM_011522638.1:c.4570C>T	XP_011520940.1:p.His1524Tyr
XM_011522639.1:c.4552C>T	XP_011520941.1:p.His1518Tyr
XM_011522640.1:c.4549C>T	XP_011520942.1:p.His1517Tyr
XM_011522641.1:c.4318C>T	XP_011520943.1:p.His1440Tyr
NM_000548.4:c.4627C>T	NP_000539.2:p.His1543Tyr
NM_001077183.2:c.4426C>T	NP_001070651.1:p.His1476Tyr
NM_001114382.2:c.4558C>T	NP_001107854.1:p.His1520Tyr
NM_001318827.1:c.4318C>T	NP_001305756.1:p.His1440Tyr
NM_001318829.1:c.4282C>T	NP_001305758.1:p.His1428Tyr
NM_001318831.1:c.3895C>T	NP_001305760.1:p.His1299Tyr
NM_001318832.1:c.4459C>T	NP_001305761.1:p.His1487Tyr
NM_001363528.1:c.4429C>T	NP_001350457.1:p.His1477Tyr
NM_021055.2:c.4498C>T	NP_066399.2:p.His1500Tyr
XM_005255531.4:c.4429C>T	XP_005255588.2:p.His1477Tyr
XM_011522636.2:c.4681C>T	XP_011520938.1:p.His1561Tyr
XM_011522637.2:c.4678C>T	XP_011520939.1:p.His1560Tyr
XM_011522638.2:c.4843C>T	XP_011520940.2:p.His1615Tyr
XM_011522639.2:c.4552C>T	XP_011520941.1:p.His1518Tyr
XM_011522640.2:c.4549C>T	XP_011520942.1:p.His1517Tyr
XM_017023615.1:c.4624C>T	XP_016879104.1:p.His1542Tyr
XM_017023616.1:c.4495C>T	XP_016879105.1:p.His1499Tyr
XM_017023617.1:c.4591C>T	XP_016879106.1:p.His1531Tyr
XM_017023618.1:c.3337C>T	XP_016879107.1:p.His1113Tyr
XM_024450413.1:c.4426C>T	XP_024306181.1:p.His1476Tyr
NM_000548.5:c.4627C>T MANE Select	NP_000539.2:p.His1543Tyr
NM_001370404.1:c.4495C>T	NP_001357333.1:p.His1499Tyr
NM_001370405.1:c.4498C>T	NP_001357334.1:p.His1500Tyr
NM_001077183.3:c.4426C>T	NP_001070651.1:p.His1476Tyr
NM_001114382.3:c.4558C>T	NP_001107854.1:p.His1520Tyr
NM_001318827.2:c.4318C>T	NP_001305756.1:p.His1440Tyr
NM_001318829.2:c.4282C>T	NP_001305758.1:p.His1428Tyr
NM_001318831.2:c.3895C>T	NP_001305760.1:p.His1299Tyr
NM_001318832.2:c.4459C>T	NP_001305761.1:p.His1487Tyr
NM_001363528.2:c.4429C>T	NP_001350457.1:p.His1477Tyr
NM_021055.3:c.4498C>T	NP_066399.2:p.His1500Tyr