Canonical Allele Identifier: CA394300280

Gene: TSC2

Linked Data

• ClinVar Variation Id: 824705
• ClinVar RCV Id: RCV001022107 ; RCV001052392
• dbSNP Id: rs1480313663
• gnomAD v4: 16-2084456-C-T
• MyVariant Identifiers: chr16:g.2134457C>T (hg19) ; chr16:g.2084456C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2084456C>T , CM000678.2:g.2084456C>T	GRCh38
NC_000016.9:g.2134457C>T , CM000678.1:g.2134457C>T	GRCh37
NC_000016.8:g.2074458C>T	NCBI36
NG_005895.1:g.40151C>T , LRG_487:g.40151C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*2583C>T	ENSP00000455997.2:n.*2583C>T
ENST00000642206.2:c.4081C>T	ENSP00000495146.2:p.Pro1361Ser
ENST00000642365.2:c.4231C>T	ENSP00000495459.2:p.Pro1411Ser
ENST00000644417.2:c.*4614C>T	ENSP00000493912.2:n.*4614C>T
ENST00000646464.2:c.*6983C>T	ENSP00000496610.2:n.*6983C>T
ENST00000219476.9:c.4234C>T MANE Select	ENSP00000219476.3:p.Pro1412Ser
ENST00000350773.9:c.4165C>T	ENSP00000344383.4:p.Pro1389Ser
ENST00000401874.7:c.4033C>T	ENSP00000384468.2:p.Pro1345Ser
ENST00000568454.6:c.4066C>T	ENSP00000454487.1:p.Pro1356Ser
ENST00000569110.2:c.470C>T
ENST00000569930.2:n.2116C>T
ENST00000642365.1:c.2888C>T
ENST00000642561.1:c.4105C>T	ENSP00000495099.1:p.Pro1369Ser
ENST00000642728.1:n.416C>T
ENST00000642797.1:c.4036C>T	ENSP00000493846.1:p.Pro1346Ser
ENST00000642936.1:c.4102C>T	ENSP00000494514.1:p.Pro1368Ser
ENST00000643088.1:c.4033C>T	ENSP00000494747.1:p.Pro1345Ser
ENST00000643177.1:n.248C>T
ENST00000643426.1:n.1882C>T
ENST00000643946.1:c.4165C>T	ENSP00000495927.1:p.Pro1389Ser
ENST00000644043.1:c.4105C>T	ENSP00000496262.1:p.Pro1369Ser
ENST00000644329.1:c.4033C>T	ENSP00000496611.1:p.Pro1345Ser
ENST00000644335.1:c.4036C>T	ENSP00000496317.1:p.Pro1346Ser
ENST00000644399.1:c.4155C>T
ENST00000645024.1:n.2318C>T
ENST00000645186.1:c.477C>T
ENST00000646388.1:c.4234C>T	ENSP00000495921.1:p.Pro1412Ser
ENST00000646634.1:n.3049C>T
ENST00000646674.1:n.1486C>T
ENST00000647042.1:n.1457C>T
ENST00000647180.1:n.1347C>T
ENST00000219476.7:c.4234C>T	ENSP00000219476.3:p.Pro1412Ser
ENST00000350773.8:c.4165C>T	ENSP00000344383.4:p.Pro1389Ser
ENST00000382538.10:c.3889C>T	ENSP00000371978.6:p.Pro1297Ser
ENST00000401874.6:c.4033C>T	ENSP00000384468.2:p.Pro1345Ser
ENST00000439117.6:c.*3401C>T	ENSP00000406980.2:n.*3401C>T
ENST00000439673.6:c.3925C>T	ENSP00000399232.2:p.Pro1309Ser
ENST00000497886.5:n.1992C>T
ENST00000568454.5:c.4066C>T	ENSP00000454487.1:p.Pro1356Ser
ENST00000569110.1:c.416C>T
ENST00000569930.1:n.1349C>T
NM_000548.3:c.4234C>T , LRG_487t1:c.4234C>T	NP_000539.2:p.Pro1412Ser
NM_001077183.1:c.4033C>T	NP_001070651.1:p.Pro1345Ser
NM_001114382.1:c.4165C>T	NP_001107854.1:p.Pro1389Ser
XM_005255529.3:c.4105C>T	XP_005255586.2:p.Pro1369Ser
XM_005255531.3:c.4036C>T	XP_005255588.2:p.Pro1346Ser
XM_011522636.1:c.4288C>T	XP_011520938.1:p.Pro1430Ser
XM_011522637.1:c.4285C>T	XP_011520939.1:p.Pro1429Ser
XM_011522638.1:c.4177C>T	XP_011520940.1:p.Pro1393Ser
XM_011522639.1:c.4159C>T	XP_011520941.1:p.Pro1387Ser
XM_011522640.1:c.4156C>T	XP_011520942.1:p.Pro1386Ser
XM_011522641.1:c.3925C>T	XP_011520943.1:p.Pro1309Ser
NM_000548.4:c.4234C>T	NP_000539.2:p.Pro1412Ser
NM_001077183.2:c.4033C>T	NP_001070651.1:p.Pro1345Ser
NM_001114382.2:c.4165C>T	NP_001107854.1:p.Pro1389Ser
NM_001318827.1:c.3925C>T	NP_001305756.1:p.Pro1309Ser
NM_001318829.1:c.3889C>T	NP_001305758.1:p.Pro1297Ser
NM_001318831.1:c.3502C>T	NP_001305760.1:p.Pro1168Ser
NM_001318832.1:c.4066C>T	NP_001305761.1:p.Pro1356Ser
NM_001363528.1:c.4036C>T	NP_001350457.1:p.Pro1346Ser
NM_021055.2:c.4105C>T	NP_066399.2:p.Pro1369Ser
XM_005255531.4:c.4036C>T	XP_005255588.2:p.Pro1346Ser
XM_011522636.2:c.4288C>T	XP_011520938.1:p.Pro1430Ser
XM_011522637.2:c.4285C>T	XP_011520939.1:p.Pro1429Ser
XM_011522638.2:c.4450C>T	XP_011520940.2:p.Pro1484Ser
XM_011522639.2:c.4159C>T	XP_011520941.1:p.Pro1387Ser
XM_011522640.2:c.4156C>T	XP_011520942.1:p.Pro1386Ser
XM_017023615.1:c.4231C>T	XP_016879104.1:p.Pro1411Ser
XM_017023616.1:c.4102C>T	XP_016879105.1:p.Pro1368Ser
XM_017023617.1:c.4198C>T	XP_016879106.1:p.Pro1400Ser
XM_017023618.1:c.2944C>T	XP_016879107.1:p.Pro982Ser
XM_024450413.1:c.4033C>T	XP_024306181.1:p.Pro1345Ser
NM_000548.5:c.4234C>T MANE Select	NP_000539.2:p.Pro1412Ser
NM_001370404.1:c.4102C>T	NP_001357333.1:p.Pro1368Ser
NM_001370405.1:c.4105C>T	NP_001357334.1:p.Pro1369Ser
NM_001077183.3:c.4033C>T	NP_001070651.1:p.Pro1345Ser
NM_001114382.3:c.4165C>T	NP_001107854.1:p.Pro1389Ser
NM_001318827.2:c.3925C>T	NP_001305756.1:p.Pro1309Ser
NM_001318829.2:c.3889C>T	NP_001305758.1:p.Pro1297Ser
NM_001318831.2:c.3502C>T	NP_001305760.1:p.Pro1168Ser
NM_001318832.2:c.4066C>T	NP_001305761.1:p.Pro1356Ser
NM_001363528.2:c.4036C>T	NP_001350457.1:p.Pro1346Ser
NM_021055.3:c.4105C>T	NP_066399.2:p.Pro1369Ser