Canonical Allele Identifier: CA018510
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49733
dbSNP Id: rs137854015

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2079163dup , CM000678.2:g.2079163dup GRCh38
NC_000016.9:g.2129164dup , CM000678.1:g.2129164dup GRCh37
NC_000016.8:g.2069165dup NCBI36
NG_005895.1:g.34858dup , LRG_487:g.34858dup

Transcript Alleles

HGVS Amino-acid change
ENST00000568566.6:c.*1516dup ENSP00000455997.2:n.*1516dup
ENST00000642206.2:c.3014dup ENSP00000495146.2:p.Tyr1005Ter
ENST00000642365.2:c.3095dup ENSP00000495459.2:p.Tyr1032Ter
ENST00000644417.2:c.*3547dup ENSP00000493912.2:n.*3547dup
ENST00000646464.2:c.*4020dup ENSP00000496610.2:n.*4020dup
ENST00000219476.9:c.3098dup MANE Select ENSP00000219476.3:p.Tyr1033Ter
ENST00000350773.9:c.3098dup ENSP00000344383.4:p.Tyr1033Ter
ENST00000401874.7:c.2966dup ENSP00000384468.2:p.Tyr989Ter
ENST00000471143.6:c.326dup ENSP00000458541.2:n.326dup
ENST00000568366.6:n.455dup
ENST00000568454.6:c.2999dup ENSP00000454487.1:p.Tyr1000Ter
ENST00000642365.1:c.1752dup
ENST00000642561.1:c.2969dup ENSP00000495099.1:p.Tyr990Ter
ENST00000642797.1:c.2969dup ENSP00000493846.1:p.Tyr990Ter
ENST00000642936.1:c.2966dup ENSP00000494514.1:p.Tyr989Ter
ENST00000643088.1:c.2966dup ENSP00000494747.1:p.Tyr989Ter
ENST00000643946.1:c.3098dup ENSP00000495927.1:p.Tyr1033Ter
ENST00000644043.1:c.2969dup ENSP00000496262.1:p.Tyr990Ter
ENST00000644329.1:c.2966dup ENSP00000496611.1:p.Tyr989Ter
ENST00000644335.1:c.2969dup ENSP00000496317.1:p.Tyr990Ter
ENST00000644399.1:c.3088dup
ENST00000644722.1:n.244dup
ENST00000645024.1:n.1251dup
ENST00000646388.1:c.3098dup ENSP00000495921.1:p.Tyr1033Ter
ENST00000646634.1:n.1982dup
ENST00000647042.1:n.390dup
ENST00000219476.7:c.3098dup ENSP00000219476.3:p.Tyr1033Ter
ENST00000350773.8:c.3098dup ENSP00000344383.4:p.Tyr1033Ter
ENST00000382538.10:c.2822dup ENSP00000371978.6:p.Tyr941Ter
ENST00000401874.6:c.2966dup ENSP00000384468.2:p.Tyr989Ter
ENST00000439117.6:c.*2265dup ENSP00000406980.2:n.*2265dup
ENST00000439673.6:c.2858dup ENSP00000399232.2:p.Tyr953Ter
ENST00000471143.5:c.324dup
ENST00000483020.5:c.338dup ENSP00000460310.1:n.338dup
ENST00000497886.5:n.925dup
ENST00000561695.1:n.244dup
ENST00000568366.5:n.455dup
ENST00000568454.5:c.2999dup ENSP00000454487.1:p.Tyr1000Ter
NM_000548.3:c.3098dup , LRG_487t1:c.3098dup NP_000539.2:p.Tyr1033Ter
NM_001077183.1:c.2966dup NP_001070651.1:p.Tyr989Ter
NM_001114382.1:c.3098dup NP_001107854.1:p.Tyr1033Ter
XM_005255529.3:c.2969dup XP_005255586.2:p.Tyr990Ter
XM_005255531.3:c.2969dup XP_005255588.2:p.Tyr990Ter
XM_011522636.1:c.3098dup XP_011520938.1:p.Tyr1033Ter
XM_011522637.1:c.3095dup XP_011520939.1:p.Tyr1032Ter
XM_011522638.1:c.2987dup XP_011520940.1:p.Tyr996Ter
XM_011522639.1:c.2969dup XP_011520941.1:p.Tyr990Ter
XM_011522640.1:c.2966dup XP_011520942.1:p.Tyr989Ter
XM_011522641.1:c.2858dup XP_011520943.1:p.Tyr953Ter
NM_000548.4:c.3098dup NP_000539.2:p.Tyr1033Ter
NM_001077183.2:c.2966dup NP_001070651.1:p.Tyr989Ter
NM_001114382.2:c.3098dup NP_001107854.1:p.Tyr1033Ter
NM_001318827.1:c.2858dup NP_001305756.1:p.Tyr953Ter
NM_001318829.1:c.2822dup NP_001305758.1:p.Tyr941Ter
NM_001318831.1:c.2366dup NP_001305760.1:p.Tyr789Ter
NM_001318832.1:c.2999dup NP_001305761.1:p.Tyr1000Ter
NM_001363528.1:c.2969dup NP_001350457.1:p.Tyr990Ter
NM_021055.2:c.2969dup NP_066399.2:p.Tyr990Ter
XM_005255531.4:c.2969dup XP_005255588.2:p.Tyr990Ter
XM_011522636.2:c.3098dup XP_011520938.1:p.Tyr1033Ter
XM_011522637.2:c.3095dup XP_011520939.1:p.Tyr1032Ter
XM_011522638.2:c.3260dup XP_011520940.2:p.Tyr1087Ter
XM_011522639.2:c.2969dup XP_011520941.1:p.Tyr990Ter
XM_011522640.2:c.2966dup XP_011520942.1:p.Tyr989Ter
XM_017023615.1:c.3095dup XP_016879104.1:p.Tyr1032Ter
XM_017023616.1:c.2966dup XP_016879105.1:p.Tyr989Ter
XM_017023617.1:c.3131dup XP_016879106.1:p.Tyr1044Ter
XM_017023618.1:c.1754dup XP_016879107.1:p.Tyr585Ter
XM_024450413.1:c.2966dup XP_024306181.1:p.Tyr989Ter
NM_000548.5:c.3098dup MANE Select NP_000539.2:p.Tyr1033Ter
NM_001370404.1:c.2966dup NP_001357333.1:p.Tyr989Ter
NM_001370405.1:c.2969dup NP_001357334.1:p.Tyr990Ter
NM_001077183.3:c.2966dup NP_001070651.1:p.Tyr989Ter
NM_001114382.3:c.3098dup NP_001107854.1:p.Tyr1033Ter
NM_001318827.2:c.2858dup NP_001305756.1:p.Tyr953Ter
NM_001318829.2:c.2822dup NP_001305758.1:p.Tyr941Ter
NM_001318831.2:c.2366dup NP_001305760.1:p.Tyr789Ter
NM_001318832.2:c.2999dup NP_001305761.1:p.Tyr1000Ter
NM_001363528.2:c.2969dup NP_001350457.1:p.Tyr990Ter
NM_021055.3:c.2969dup NP_066399.2:p.Tyr990Ter