Canonical Allele Identifier: CA319577
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 207776
ClinVar RCV Id: RCV000190063
dbSNP Id: rs796053506

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2081722dup , CM000678.2:g.2081722dup GRCh38
NC_000016.9:g.2131723dup , CM000678.1:g.2131723dup GRCh37
NC_000016.8:g.2071724dup NCBI36
NG_005895.1:g.37417dup , LRG_487:g.37417dup

Transcript Alleles

HGVS Amino-acid change
ENST00000568566.6:c.*2156dup ENSP00000455997.2:n.*2156dup
ENST00000642206.2:c.3654dup ENSP00000495146.2:p.Thr1219HisfsTer?
ENST00000642365.2:c.3735dup ENSP00000495459.2:p.Thr1246HisfsTer?
ENST00000644417.2:c.*4187dup ENSP00000493912.2:n.*4187dup
ENST00000646464.2:c.*4660dup ENSP00000496610.2:n.*4660dup
ENST00000219476.9:c.3738dup MANE Select ENSP00000219476.3:p.Thr1247HisfsTer?
ENST00000350773.9:c.3738dup ENSP00000344383.4:p.Thr1247HisfsTer?
ENST00000401874.7:c.3606dup ENSP00000384468.2:p.Thr1203HisfsTer?
ENST00000568454.6:c.3639dup ENSP00000454487.1:p.Thr1214HisfsTer?
ENST00000642365.1:c.2392dup
ENST00000642561.1:c.3609dup ENSP00000495099.1:p.Thr1204HisfsTer?
ENST00000642797.1:c.3609dup ENSP00000493846.1:p.Thr1204HisfsTer?
ENST00000642936.1:c.3606dup ENSP00000494514.1:p.Thr1203HisfsTer?
ENST00000643088.1:c.3606dup ENSP00000494747.1:p.Thr1203HisfsTer?
ENST00000643426.1:n.1386dup
ENST00000643533.1:n.248dup
ENST00000643946.1:c.3738dup ENSP00000495927.1:p.Thr1247HisfsTer?
ENST00000644043.1:c.3609dup ENSP00000496262.1:p.Thr1204HisfsTer?
ENST00000644329.1:c.3606dup ENSP00000496611.1:p.Thr1203HisfsTer?
ENST00000644335.1:c.3609dup ENSP00000496317.1:p.Thr1204HisfsTer?
ENST00000644399.1:c.3728dup
ENST00000644722.1:n.884dup
ENST00000645024.1:n.1891dup
ENST00000646388.1:c.3738dup ENSP00000495921.1:p.Thr1247HisfsTer?
ENST00000646634.1:n.2622dup
ENST00000646674.1:n.353dup
ENST00000647042.1:n.1030dup
ENST00000647180.1:n.218dup
ENST00000219476.7:c.3738dup ENSP00000219476.3:p.Thr1247HisfsTer?
ENST00000350773.8:c.3738dup ENSP00000344383.4:p.Thr1247HisfsTer?
ENST00000382538.10:c.3462dup ENSP00000371978.6:p.Thr1155HisfsTer?
ENST00000401874.6:c.3606dup ENSP00000384468.2:p.Thr1203HisfsTer?
ENST00000439117.6:c.*2905dup ENSP00000406980.2:n.*2905dup
ENST00000439673.6:c.3498dup ENSP00000399232.2:p.Thr1167HisfsTer?
ENST00000497886.5:n.1565dup
ENST00000568454.5:c.3639dup ENSP00000454487.1:p.Thr1214HisfsTer?
NM_000548.3:c.3738dup , LRG_487t1:c.3738dup NP_000539.2:p.Thr1247HisfsTer?
NM_001077183.1:c.3606dup NP_001070651.1:p.Thr1203HisfsTer?
NM_001114382.1:c.3738dup NP_001107854.1:p.Thr1247HisfsTer?
XM_005255529.3:c.3609dup XP_005255586.2:p.Thr1204HisfsTer?
XM_005255531.3:c.3609dup XP_005255588.2:p.Thr1204HisfsTer?
XM_011522636.1:c.3738dup XP_011520938.1:p.Thr1247HisfsTer?
XM_011522637.1:c.3735dup XP_011520939.1:p.Thr1246HisfsTer?
XM_011522638.1:c.3627dup XP_011520940.1:p.Thr1210HisfsTer?
XM_011522639.1:c.3609dup XP_011520941.1:p.Thr1204HisfsTer?
XM_011522640.1:c.3606dup XP_011520942.1:p.Thr1203HisfsTer?
XM_011522641.1:c.3498dup XP_011520943.1:p.Thr1167HisfsTer?
NM_000548.4:c.3738dup NP_000539.2:p.Thr1247HisfsTer?
NM_001077183.2:c.3606dup NP_001070651.1:p.Thr1203HisfsTer?
NM_001114382.2:c.3738dup NP_001107854.1:p.Thr1247HisfsTer?
NM_001318827.1:c.3498dup NP_001305756.1:p.Thr1167HisfsTer?
NM_001318829.1:c.3462dup NP_001305758.1:p.Thr1155HisfsTer?
NM_001318831.1:c.3006dup NP_001305760.1:p.Thr1003HisfsTer?
NM_001318832.1:c.3639dup NP_001305761.1:p.Thr1214HisfsTer?
NM_001363528.1:c.3609dup NP_001350457.1:p.Thr1204HisfsTer?
NM_021055.2:c.3609dup NP_066399.2:p.Thr1204HisfsTer?
XM_005255531.4:c.3609dup XP_005255588.2:p.Thr1204HisfsTer?
XM_011522636.2:c.3738dup XP_011520938.1:p.Thr1247HisfsTer?
XM_011522637.2:c.3735dup XP_011520939.1:p.Thr1246HisfsTer?
XM_011522638.2:c.3900dup XP_011520940.2:p.Thr1301HisfsTer?
XM_011522639.2:c.3609dup XP_011520941.1:p.Thr1204HisfsTer?
XM_011522640.2:c.3606dup XP_011520942.1:p.Thr1203HisfsTer?
XM_017023615.1:c.3735dup XP_016879104.1:p.Thr1246HisfsTer?
XM_017023616.1:c.3606dup XP_016879105.1:p.Thr1203HisfsTer?
XM_017023617.1:c.3771dup XP_016879106.1:p.Thr1258HisfsTer?
XM_017023618.1:c.2394dup XP_016879107.1:p.Thr799HisfsTer?
XM_024450413.1:c.3606dup XP_024306181.1:p.Thr1203HisfsTer?
NM_000548.5:c.3738dup MANE Select NP_000539.2:p.Thr1247HisfsTer?
NM_001370404.1:c.3606dup NP_001357333.1:p.Thr1203HisfsTer?
NM_001370405.1:c.3609dup NP_001357334.1:p.Thr1204HisfsTer?
NM_001077183.3:c.3606dup NP_001070651.1:p.Thr1203HisfsTer?
NM_001114382.3:c.3738dup NP_001107854.1:p.Thr1247HisfsTer?
NM_001318827.2:c.3498dup NP_001305756.1:p.Thr1167HisfsTer?
NM_001318829.2:c.3462dup NP_001305758.1:p.Thr1155HisfsTer?
NM_001318831.2:c.3006dup NP_001305760.1:p.Thr1003HisfsTer?
NM_001318832.2:c.3639dup NP_001305761.1:p.Thr1214HisfsTer?
NM_001363528.2:c.3609dup NP_001350457.1:p.Thr1204HisfsTer?
NM_021055.3:c.3609dup NP_066399.2:p.Thr1204HisfsTer?