Canonical Allele Identifier: CA394304849

Gene: TSC2

Linked Data

• MyVariant Identifiers: chr16:g.2135288C>G (hg19) ; chr16:g.2085287C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2976C>G	ENSP00000455997.2:n.*2976C>G
ENST00000642206.2:c.4474C>G	ENSP00000495146.2:p.His1492Asp
ENST00000642365.2:c.4624C>G	ENSP00000495459.2:p.His1542Asp
ENST00000644417.2:c.*5007C>G	ENSP00000493912.2:n.*5007C>G
ENST00000646464.2:c.*7376C>G	ENSP00000496610.2:n.*7376C>G
ENST00000219476.9:c.4627C>G MANE Select	ENSP00000219476.3:p.His1543Asp
ENST00000350773.9:c.4558C>G	ENSP00000344383.4:p.His1520Asp
ENST00000401874.7:c.4426C>G	ENSP00000384468.2:p.His1476Asp
ENST00000568454.6:c.4459C>G	ENSP00000454487.1:p.His1487Asp
ENST00000569110.2:c.850C>G
ENST00000569930.2:n.2509C>G
ENST00000642365.1:c.3281C>G
ENST00000642561.1:c.4498C>G	ENSP00000495099.1:p.His1500Asp
ENST00000642728.1:n.809C>G
ENST00000642791.1:n.224C>G
ENST00000642797.1:c.4429C>G	ENSP00000493846.1:p.His1477Asp
ENST00000642936.1:c.4495C>G	ENSP00000494514.1:p.His1499Asp
ENST00000643088.1:c.4420C>G	ENSP00000494747.1:p.His1474Asp
ENST00000643177.1:n.641C>G
ENST00000643426.1:n.2275C>G
ENST00000643946.1:c.4552C>G	ENSP00000495927.1:p.His1518Asp
ENST00000644043.1:c.4498C>G	ENSP00000496262.1:p.His1500Asp
ENST00000644278.1:n.109C>G
ENST00000644329.1:c.4426C>G	ENSP00000496611.1:p.His1476Asp
ENST00000644335.1:c.4423C>G	ENSP00000496317.1:p.His1475Asp
ENST00000644399.1:c.4548C>G
ENST00000645024.1:n.2711C>G
ENST00000646388.1:c.4621C>G	ENSP00000495921.1:p.His1541Asp
ENST00000646634.1:n.3442C>G
ENST00000646674.1:n.1879C>G
ENST00000647042.1:n.1850C>G
ENST00000647180.1:n.1740C>G
ENST00000219476.7:c.4627C>G	ENSP00000219476.3:p.His1543Asp
ENST00000350773.8:c.4558C>G	ENSP00000344383.4:p.His1520Asp
ENST00000382538.10:c.4282C>G	ENSP00000371978.6:p.His1428Asp
ENST00000401874.6:c.4426C>G	ENSP00000384468.2:p.His1476Asp
ENST00000439117.6:c.*3794C>G	ENSP00000406980.2:n.*3794C>G
ENST00000439673.6:c.4318C>G	ENSP00000399232.2:p.His1440Asp
ENST00000497886.5:n.2385C>G
ENST00000568454.5:c.4459C>G	ENSP00000454487.1:p.His1487Asp
ENST00000569110.1:c.809C>G
ENST00000569930.1:n.1742C>G
NM_000548.3:c.4627C>G , LRG_487t1:c.4627C>G	NP_000539.2:p.His1543Asp
NM_001077183.1:c.4426C>G	NP_001070651.1:p.His1476Asp
NM_001114382.1:c.4558C>G	NP_001107854.1:p.His1520Asp
XM_005255529.3:c.4498C>G	XP_005255586.2:p.His1500Asp
XM_005255531.3:c.4429C>G	XP_005255588.2:p.His1477Asp
XM_011522636.1:c.4681C>G	XP_011520938.1:p.His1561Asp
XM_011522637.1:c.4678C>G	XP_011520939.1:p.His1560Asp
XM_011522638.1:c.4570C>G	XP_011520940.1:p.His1524Asp
XM_011522639.1:c.4552C>G	XP_011520941.1:p.His1518Asp
XM_011522640.1:c.4549C>G	XP_011520942.1:p.His1517Asp
XM_011522641.1:c.4318C>G	XP_011520943.1:p.His1440Asp
NM_000548.4:c.4627C>G	NP_000539.2:p.His1543Asp
NM_001077183.2:c.4426C>G	NP_001070651.1:p.His1476Asp
NM_001114382.2:c.4558C>G	NP_001107854.1:p.His1520Asp
NM_001318827.1:c.4318C>G	NP_001305756.1:p.His1440Asp
NM_001318829.1:c.4282C>G	NP_001305758.1:p.His1428Asp
NM_001318831.1:c.3895C>G	NP_001305760.1:p.His1299Asp
NM_001318832.1:c.4459C>G	NP_001305761.1:p.His1487Asp
NM_001363528.1:c.4429C>G	NP_001350457.1:p.His1477Asp
NM_021055.2:c.4498C>G	NP_066399.2:p.His1500Asp
XM_005255531.4:c.4429C>G	XP_005255588.2:p.His1477Asp
XM_011522636.2:c.4681C>G	XP_011520938.1:p.His1561Asp
XM_011522637.2:c.4678C>G	XP_011520939.1:p.His1560Asp
XM_011522638.2:c.4843C>G	XP_011520940.2:p.His1615Asp
XM_011522639.2:c.4552C>G	XP_011520941.1:p.His1518Asp
XM_011522640.2:c.4549C>G	XP_011520942.1:p.His1517Asp
XM_017023615.1:c.4624C>G	XP_016879104.1:p.His1542Asp
XM_017023616.1:c.4495C>G	XP_016879105.1:p.His1499Asp
XM_017023617.1:c.4591C>G	XP_016879106.1:p.His1531Asp
XM_017023618.1:c.3337C>G	XP_016879107.1:p.His1113Asp
XM_024450413.1:c.4426C>G	XP_024306181.1:p.His1476Asp
NM_000548.5:c.4627C>G MANE Select	NP_000539.2:p.His1543Asp
NM_001370404.1:c.4495C>G	NP_001357333.1:p.His1499Asp
NM_001370405.1:c.4498C>G	NP_001357334.1:p.His1500Asp
NM_001077183.3:c.4426C>G	NP_001070651.1:p.His1476Asp
NM_001114382.3:c.4558C>G	NP_001107854.1:p.His1520Asp
NM_001318827.2:c.4318C>G	NP_001305756.1:p.His1440Asp
NM_001318829.2:c.4282C>G	NP_001305758.1:p.His1428Asp
NM_001318831.2:c.3895C>G	NP_001305760.1:p.His1299Asp
NM_001318832.2:c.4459C>G	NP_001305761.1:p.His1487Asp
NM_001363528.2:c.4429C>G	NP_001350457.1:p.His1477Asp
NM_021055.3:c.4498C>G	NP_066399.2:p.His1500Asp