Canonical Allele Identifier: CA394304710

Gene: TSC2

Linked Data

• MyVariant Identifiers: chr16:g.2135274C>G (hg19) ; chr16:g.2085273C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2085273C>G , CM000678.2:g.2085273C>G	GRCh38
NC_000016.9:g.2135274C>G , CM000678.1:g.2135274C>G	GRCh37
NC_000016.8:g.2075275C>G	NCBI36
NG_005895.1:g.40968C>G , LRG_487:g.40968C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2962C>G	ENSP00000455997.2:n.*2962C>G
ENST00000642206.2:c.4460C>G	ENSP00000495146.2:p.Pro1487Arg
ENST00000642365.2:c.4610C>G	ENSP00000495459.2:p.Pro1537Arg
ENST00000644417.2:c.*4993C>G	ENSP00000493912.2:n.*4993C>G
ENST00000646464.2:c.*7362C>G	ENSP00000496610.2:n.*7362C>G
ENST00000219476.9:c.4613C>G MANE Select	ENSP00000219476.3:p.Pro1538Arg
ENST00000350773.9:c.4544C>G	ENSP00000344383.4:p.Pro1515Arg
ENST00000401874.7:c.4412C>G	ENSP00000384468.2:p.Pro1471Arg
ENST00000568454.6:c.4445C>G	ENSP00000454487.1:p.Pro1482Arg
ENST00000569110.2:c.836C>G
ENST00000569930.2:n.2495C>G
ENST00000642365.1:c.3267C>G
ENST00000642561.1:c.4484C>G	ENSP00000495099.1:p.Pro1495Arg
ENST00000642728.1:n.795C>G
ENST00000642791.1:n.210C>G
ENST00000642797.1:c.4415C>G	ENSP00000493846.1:p.Pro1472Arg
ENST00000642936.1:c.4481C>G	ENSP00000494514.1:p.Pro1494Arg
ENST00000643088.1:c.4406C>G	ENSP00000494747.1:p.Pro1469Arg
ENST00000643177.1:n.627C>G
ENST00000643426.1:n.2261C>G
ENST00000643946.1:c.4538C>G	ENSP00000495927.1:p.Pro1513Arg
ENST00000644043.1:c.4484C>G	ENSP00000496262.1:p.Pro1495Arg
ENST00000644278.1:n.95C>G
ENST00000644329.1:c.4412C>G	ENSP00000496611.1:p.Pro1471Arg
ENST00000644335.1:c.4409C>G	ENSP00000496317.1:p.Pro1470Arg
ENST00000644399.1:c.4534C>G
ENST00000645024.1:n.2697C>G
ENST00000646388.1:c.4607C>G	ENSP00000495921.1:p.Pro1536Arg
ENST00000646634.1:n.3428C>G
ENST00000646674.1:n.1865C>G
ENST00000647042.1:n.1836C>G
ENST00000647180.1:n.1726C>G
ENST00000219476.7:c.4613C>G	ENSP00000219476.3:p.Pro1538Arg
ENST00000350773.8:c.4544C>G	ENSP00000344383.4:p.Pro1515Arg
ENST00000382538.10:c.4268C>G	ENSP00000371978.6:p.Pro1423Arg
ENST00000401874.6:c.4412C>G	ENSP00000384468.2:p.Pro1471Arg
ENST00000439117.6:c.*3780C>G	ENSP00000406980.2:n.*3780C>G
ENST00000439673.6:c.4304C>G	ENSP00000399232.2:p.Pro1435Arg
ENST00000497886.5:n.2371C>G
ENST00000568454.5:c.4445C>G	ENSP00000454487.1:p.Pro1482Arg
ENST00000569110.1:c.795C>G
ENST00000569930.1:n.1728C>G
NM_000548.3:c.4613C>G , LRG_487t1:c.4613C>G	NP_000539.2:p.Pro1538Arg
NM_001077183.1:c.4412C>G	NP_001070651.1:p.Pro1471Arg
NM_001114382.1:c.4544C>G	NP_001107854.1:p.Pro1515Arg
XM_005255529.3:c.4484C>G	XP_005255586.2:p.Pro1495Arg
XM_005255531.3:c.4415C>G	XP_005255588.2:p.Pro1472Arg
XM_011522636.1:c.4667C>G	XP_011520938.1:p.Pro1556Arg
XM_011522637.1:c.4664C>G	XP_011520939.1:p.Pro1555Arg
XM_011522638.1:c.4556C>G	XP_011520940.1:p.Pro1519Arg
XM_011522639.1:c.4538C>G	XP_011520941.1:p.Pro1513Arg
XM_011522640.1:c.4535C>G	XP_011520942.1:p.Pro1512Arg
XM_011522641.1:c.4304C>G	XP_011520943.1:p.Pro1435Arg
NM_000548.4:c.4613C>G	NP_000539.2:p.Pro1538Arg
NM_001077183.2:c.4412C>G	NP_001070651.1:p.Pro1471Arg
NM_001114382.2:c.4544C>G	NP_001107854.1:p.Pro1515Arg
NM_001318827.1:c.4304C>G	NP_001305756.1:p.Pro1435Arg
NM_001318829.1:c.4268C>G	NP_001305758.1:p.Pro1423Arg
NM_001318831.1:c.3881C>G	NP_001305760.1:p.Pro1294Arg
NM_001318832.1:c.4445C>G	NP_001305761.1:p.Pro1482Arg
NM_001363528.1:c.4415C>G	NP_001350457.1:p.Pro1472Arg
NM_021055.2:c.4484C>G	NP_066399.2:p.Pro1495Arg
XM_005255531.4:c.4415C>G	XP_005255588.2:p.Pro1472Arg
XM_011522636.2:c.4667C>G	XP_011520938.1:p.Pro1556Arg
XM_011522637.2:c.4664C>G	XP_011520939.1:p.Pro1555Arg
XM_011522638.2:c.4829C>G	XP_011520940.2:p.Pro1610Arg
XM_011522639.2:c.4538C>G	XP_011520941.1:p.Pro1513Arg
XM_011522640.2:c.4535C>G	XP_011520942.1:p.Pro1512Arg
XM_017023615.1:c.4610C>G	XP_016879104.1:p.Pro1537Arg
XM_017023616.1:c.4481C>G	XP_016879105.1:p.Pro1494Arg
XM_017023617.1:c.4577C>G	XP_016879106.1:p.Pro1526Arg
XM_017023618.1:c.3323C>G	XP_016879107.1:p.Pro1108Arg
XM_024450413.1:c.4412C>G	XP_024306181.1:p.Pro1471Arg
NM_000548.5:c.4613C>G MANE Select	NP_000539.2:p.Pro1538Arg
NM_001370404.1:c.4481C>G	NP_001357333.1:p.Pro1494Arg
NM_001370405.1:c.4484C>G	NP_001357334.1:p.Pro1495Arg
NM_001077183.3:c.4412C>G	NP_001070651.1:p.Pro1471Arg
NM_001114382.3:c.4544C>G	NP_001107854.1:p.Pro1515Arg
NM_001318827.2:c.4304C>G	NP_001305756.1:p.Pro1435Arg
NM_001318829.2:c.4268C>G	NP_001305758.1:p.Pro1423Arg
NM_001318831.2:c.3881C>G	NP_001305760.1:p.Pro1294Arg
NM_001318832.2:c.4445C>G	NP_001305761.1:p.Pro1482Arg
NM_001363528.2:c.4415C>G	NP_001350457.1:p.Pro1472Arg
NM_021055.3:c.4484C>G	NP_066399.2:p.Pro1495Arg