Canonical Allele Identifier: CA019484
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49539
ClinVar RCV Id: RCV000042799 RCV000201083 RCV001195892 RCV003221794
dbSNP Id: rs137854210
MyVariant Identifiers: chr16:g.2131681dupT (hg19) chr16:g.2081680dupT (hg38)
PubMed: PMID:16981987
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2081680dup , CM000678.2:g.2081680dup GRCh38
NC_000016.9:g.2131681dup , CM000678.1:g.2131681dup GRCh37
NC_000016.8:g.2071682dup NCBI36
NG_005895.1:g.37375dup , LRG_487:g.37375dup

Transcript Alleles

HGVS Amino-acid change
ENST00000568566.6:c.*2114dup ENSP00000455997.2:n.*2114dup
ENST00000642206.2:c.3612dup ENSP00000495146.2:p.Asn1205Ter
ENST00000642365.2:c.3693dup ENSP00000495459.2:p.Asn1232Ter
ENST00000644417.2:c.*4145dup ENSP00000493912.2:n.*4145dup
ENST00000646464.2:c.*4618dup ENSP00000496610.2:n.*4618dup
ENST00000219476.9:c.3696dup MANE Select ENSP00000219476.3:p.Asn1233Ter
ENST00000350773.9:c.3696dup ENSP00000344383.4:p.Asn1233Ter
ENST00000401874.7:c.3564dup ENSP00000384468.2:p.Asn1189Ter
ENST00000568454.6:c.3597dup ENSP00000454487.1:p.Asn1200Ter
ENST00000642365.1:c.2350dup
ENST00000642561.1:c.3567dup ENSP00000495099.1:p.Asn1190Ter
ENST00000642797.1:c.3567dup ENSP00000493846.1:p.Asn1190Ter
ENST00000642936.1:c.3564dup ENSP00000494514.1:p.Asn1189Ter
ENST00000643088.1:c.3564dup ENSP00000494747.1:p.Asn1189Ter
ENST00000643426.1:n.1344dup
ENST00000643533.1:n.206dup
ENST00000643946.1:c.3696dup ENSP00000495927.1:p.Asn1233Ter
ENST00000644043.1:c.3567dup ENSP00000496262.1:p.Asn1190Ter
ENST00000644329.1:c.3564dup ENSP00000496611.1:p.Asn1189Ter
ENST00000644335.1:c.3567dup ENSP00000496317.1:p.Asn1190Ter
ENST00000644399.1:c.3686dup
ENST00000644722.1:n.842dup
ENST00000645024.1:n.1849dup
ENST00000646388.1:c.3696dup ENSP00000495921.1:p.Asn1233Ter
ENST00000646634.1:n.2580dup
ENST00000646674.1:n.311dup
ENST00000647042.1:n.988dup
ENST00000647180.1:n.176dup
ENST00000219476.7:c.3696dup ENSP00000219476.3:p.Asn1233Ter
ENST00000350773.8:c.3696dup ENSP00000344383.4:p.Asn1233Ter
ENST00000382538.10:c.3420dup ENSP00000371978.6:p.Asn1141Ter
ENST00000401874.6:c.3564dup ENSP00000384468.2:p.Asn1189Ter
ENST00000439117.6:c.*2863dup ENSP00000406980.2:n.*2863dup
ENST00000439673.6:c.3456dup ENSP00000399232.2:p.Asn1153Ter
ENST00000497886.5:n.1523dup
ENST00000568454.5:c.3597dup ENSP00000454487.1:p.Asn1200Ter
NM_000548.3:c.3696dup , LRG_487t1:c.3696dup NP_000539.2:p.Asn1233Ter
NM_001077183.1:c.3564dup NP_001070651.1:p.Asn1189Ter
NM_001114382.1:c.3696dup NP_001107854.1:p.Asn1233Ter
XM_005255529.3:c.3567dup XP_005255586.2:p.Asn1190Ter
XM_005255531.3:c.3567dup XP_005255588.2:p.Asn1190Ter
XM_011522636.1:c.3696dup XP_011520938.1:p.Asn1233Ter
XM_011522637.1:c.3693dup XP_011520939.1:p.Asn1232Ter
XM_011522638.1:c.3585dup XP_011520940.1:p.Asn1196Ter
XM_011522639.1:c.3567dup XP_011520941.1:p.Asn1190Ter
XM_011522640.1:c.3564dup XP_011520942.1:p.Asn1189Ter
XM_011522641.1:c.3456dup XP_011520943.1:p.Asn1153Ter
NM_000548.4:c.3696dup NP_000539.2:p.Asn1233Ter
NM_001077183.2:c.3564dup NP_001070651.1:p.Asn1189Ter
NM_001114382.2:c.3696dup NP_001107854.1:p.Asn1233Ter
NM_001318827.1:c.3456dup NP_001305756.1:p.Asn1153Ter
NM_001318829.1:c.3420dup NP_001305758.1:p.Asn1141Ter
NM_001318831.1:c.2964dup NP_001305760.1:p.Asn989Ter
NM_001318832.1:c.3597dup NP_001305761.1:p.Asn1200Ter
NM_001363528.1:c.3567dup NP_001350457.1:p.Asn1190Ter
NM_021055.2:c.3567dup NP_066399.2:p.Asn1190Ter
XM_005255531.4:c.3567dup XP_005255588.2:p.Asn1190Ter
XM_011522636.2:c.3696dup XP_011520938.1:p.Asn1233Ter
XM_011522637.2:c.3693dup XP_011520939.1:p.Asn1232Ter
XM_011522638.2:c.3858dup XP_011520940.2:p.Asn1287Ter
XM_011522639.2:c.3567dup XP_011520941.1:p.Asn1190Ter
XM_011522640.2:c.3564dup XP_011520942.1:p.Asn1189Ter
XM_017023615.1:c.3693dup XP_016879104.1:p.Asn1232Ter
XM_017023616.1:c.3564dup XP_016879105.1:p.Asn1189Ter
XM_017023617.1:c.3729dup XP_016879106.1:p.Asn1244Ter
XM_017023618.1:c.2352dup XP_016879107.1:p.Asn785Ter
XM_024450413.1:c.3564dup XP_024306181.1:p.Asn1189Ter
NM_000548.5:c.3696dup MANE Select NP_000539.2:p.Asn1233Ter
NM_001370404.1:c.3564dup NP_001357333.1:p.Asn1189Ter
NM_001370405.1:c.3567dup NP_001357334.1:p.Asn1190Ter
NM_001077183.3:c.3564dup NP_001070651.1:p.Asn1189Ter
NM_001114382.3:c.3696dup NP_001107854.1:p.Asn1233Ter
NM_001318827.2:c.3456dup NP_001305756.1:p.Asn1153Ter
NM_001318829.2:c.3420dup NP_001305758.1:p.Asn1141Ter
NM_001318831.2:c.2964dup NP_001305760.1:p.Asn989Ter
NM_001318832.2:c.3597dup NP_001305761.1:p.Asn1200Ter
NM_001363528.2:c.3567dup NP_001350457.1:p.Asn1190Ter
NM_021055.3:c.3567dup NP_066399.2:p.Asn1190Ter
Search 100 bp 5'
Search 100 bp 3'