Canonical Allele Identifier: CA2499223336

Gene: TSC2

Linked Data

• ClinVar Variation Id: 1076797
• ClinVar RCV Id: RCV001390821
• dbSNP Id: rs2151520544

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2084236dup , CM000678.2:g.2084236dup	GRCh38
NC_000016.9:g.2134237dup , CM000678.1:g.2134237dup	GRCh37
NC_000016.8:g.2074238dup	NCBI36
NG_005895.1:g.39931dup , LRG_487:g.39931dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2363dup	ENSP00000455997.2:n.*2363dup
ENST00000642206.2:c.3861dup	ENSP00000495146.2:p.Val1288SerfsTer?
ENST00000642365.2:c.4011dup	ENSP00000495459.2:p.Val1338SerfsTer?
ENST00000644417.2:c.*4394dup	ENSP00000493912.2:n.*4394dup
ENST00000646464.2:c.*6763dup	ENSP00000496610.2:n.*6763dup
ENST00000219476.9:c.4014dup MANE Select	ENSP00000219476.3:p.Val1339SerfsTer?
ENST00000350773.9:c.3945dup	ENSP00000344383.4:p.Val1316SerfsTer?
ENST00000401874.7:c.3813dup	ENSP00000384468.2:p.Val1272SerfsTer?
ENST00000568454.6:c.3846dup	ENSP00000454487.1:p.Val1283SerfsTer?
ENST00000569110.2:c.250dup
ENST00000569930.2:n.1896dup
ENST00000642365.1:c.2668dup
ENST00000642561.1:c.3885dup	ENSP00000495099.1:p.Val1296SerfsTer?
ENST00000642728.1:n.196dup
ENST00000642797.1:c.3816dup	ENSP00000493846.1:p.Val1273SerfsTer?
ENST00000642936.1:c.3882dup	ENSP00000494514.1:p.Val1295SerfsTer?
ENST00000643088.1:c.3813dup	ENSP00000494747.1:p.Val1272SerfsTer?
ENST00000643177.1:n.28dup
ENST00000643426.1:n.1662dup
ENST00000643533.1:n.455dup
ENST00000643946.1:c.3945dup	ENSP00000495927.1:p.Val1316SerfsTer?
ENST00000644043.1:c.3885dup	ENSP00000496262.1:p.Val1296SerfsTer?
ENST00000644329.1:c.3813dup	ENSP00000496611.1:p.Val1272SerfsTer?
ENST00000644335.1:c.3816dup	ENSP00000496317.1:p.Val1273SerfsTer?
ENST00000644399.1:c.3935dup
ENST00000645024.1:n.2098dup
ENST00000645186.1:c.257dup
ENST00000646388.1:c.4014dup	ENSP00000495921.1:p.Val1339SerfsTer?
ENST00000646634.1:n.2829dup
ENST00000646674.1:n.1266dup
ENST00000647042.1:n.1237dup
ENST00000647180.1:n.1127dup
ENST00000219476.7:c.4014dup	ENSP00000219476.3:p.Val1339SerfsTer?
ENST00000350773.8:c.3945dup	ENSP00000344383.4:p.Val1316SerfsTer?
ENST00000382538.10:c.3669dup	ENSP00000371978.6:p.Val1224SerfsTer?
ENST00000401874.6:c.3813dup	ENSP00000384468.2:p.Val1272SerfsTer?
ENST00000439117.6:c.*3181dup	ENSP00000406980.2:n.*3181dup
ENST00000439673.6:c.3705dup	ENSP00000399232.2:p.Val1236SerfsTer?
ENST00000497886.5:n.1772dup
ENST00000568454.5:c.3846dup	ENSP00000454487.1:p.Val1283SerfsTer?
ENST00000569110.1:c.196dup
ENST00000569930.1:n.1129dup
NM_000548.3:c.4014dup , LRG_487t1:c.4014dup	NP_000539.2:p.Val1339SerfsTer?
NM_001077183.1:c.3813dup	NP_001070651.1:p.Val1272SerfsTer?
NM_001114382.1:c.3945dup	NP_001107854.1:p.Val1316SerfsTer?
XM_005255529.3:c.3885dup	XP_005255586.2:p.Val1296SerfsTer?
XM_005255531.3:c.3816dup	XP_005255588.2:p.Val1273SerfsTer?
XM_011522636.1:c.4068dup	XP_011520938.1:p.Val1357SerfsTer?
XM_011522637.1:c.4065dup	XP_011520939.1:p.Val1356SerfsTer?
XM_011522638.1:c.3957dup	XP_011520940.1:p.Val1320SerfsTer?
XM_011522639.1:c.3939dup	XP_011520941.1:p.Val1314SerfsTer?
XM_011522640.1:c.3936dup	XP_011520942.1:p.Val1313SerfsTer?
XM_011522641.1:c.3705dup	XP_011520943.1:p.Val1236SerfsTer?
NM_000548.4:c.4014dup	NP_000539.2:p.Val1339SerfsTer?
NM_001077183.2:c.3813dup	NP_001070651.1:p.Val1272SerfsTer?
NM_001114382.2:c.3945dup	NP_001107854.1:p.Val1316SerfsTer?
NM_001318827.1:c.3705dup	NP_001305756.1:p.Val1236SerfsTer?
NM_001318829.1:c.3669dup	NP_001305758.1:p.Val1224SerfsTer?
NM_001318831.1:c.3282dup	NP_001305760.1:p.Val1095SerfsTer?
NM_001318832.1:c.3846dup	NP_001305761.1:p.Val1283SerfsTer?
NM_001363528.1:c.3816dup	NP_001350457.1:p.Val1273SerfsTer?
NM_021055.2:c.3885dup	NP_066399.2:p.Val1296SerfsTer?
XM_005255531.4:c.3816dup	XP_005255588.2:p.Val1273SerfsTer?
XM_011522636.2:c.4068dup	XP_011520938.1:p.Val1357SerfsTer?
XM_011522637.2:c.4065dup	XP_011520939.1:p.Val1356SerfsTer?
XM_011522638.2:c.4230dup	XP_011520940.2:p.Val1411SerfsTer?
XM_011522639.2:c.3939dup	XP_011520941.1:p.Val1314SerfsTer?
XM_011522640.2:c.3936dup	XP_011520942.1:p.Val1313SerfsTer?
XM_017023615.1:c.4011dup	XP_016879104.1:p.Val1338SerfsTer?
XM_017023616.1:c.3882dup	XP_016879105.1:p.Val1295SerfsTer?
XM_017023617.1:c.3978dup	XP_016879106.1:p.Val1327SerfsTer?
XM_017023618.1:c.2724dup	XP_016879107.1:p.Val909SerfsTer?
XM_024450413.1:c.3813dup	XP_024306181.1:p.Val1272SerfsTer?
NM_000548.5:c.4014dup MANE Select	NP_000539.2:p.Val1339SerfsTer?
NM_001370404.1:c.3882dup	NP_001357333.1:p.Val1295SerfsTer?
NM_001370405.1:c.3885dup	NP_001357334.1:p.Val1296SerfsTer?
NM_001077183.3:c.3813dup	NP_001070651.1:p.Val1272SerfsTer?
NM_001114382.3:c.3945dup	NP_001107854.1:p.Val1316SerfsTer?
NM_001318827.2:c.3705dup	NP_001305756.1:p.Val1236SerfsTer?
NM_001318829.2:c.3669dup	NP_001305758.1:p.Val1224SerfsTer?
NM_001318831.2:c.3282dup	NP_001305760.1:p.Val1095SerfsTer?
NM_001318832.2:c.3846dup	NP_001305761.1:p.Val1283SerfsTer?
NM_001363528.2:c.3816dup	NP_001350457.1:p.Val1273SerfsTer?
NM_021055.3:c.3885dup	NP_066399.2:p.Val1296SerfsTer?