Canonical Allele Identifier: CA718920369
Gene: TSC2 HGNC NCBI

Linked Data

dbSNP Id: rs1375935361
gnomAD v4: 16-2085463-CTG-C
MyVariant Identifiers: chr16:g.2135465_2135466del (hg19) chr16:g.2085464_2085465del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2085466_2085467del , CM000678.2:g.2085466_2085467del GRCh38
NC_000016.9:g.2135467_2135468del , CM000678.1:g.2135467_2135468del GRCh37
NC_000016.8:g.2075468_2075469del NCBI36
NG_005895.1:g.41161_41162del , LRG_487:g.41161_41162del

Transcript Alleles

HGVS Amino-acid Change
ENST00000568566.6:c.*3011+144_*3011+145del ENSP00000455997.2:n.*3011+144_*3011+145del
ENST00000642206.2:c.4509+144_4509+145del ENSP00000495146.2:n.4509+144_4509+145del
ENST00000642365.2:c.4659+144_4659+145del ENSP00000495459.2:n.4659+144_4659+145del
ENST00000644417.2:c.*5066_*5067del ENSP00000493912.2:n.*5066_*5067del
ENST00000646464.2:c.*7411+144_*7411+145del ENSP00000496610.2:n.*7411+144_*7411+145del
ENST00000219476.9:c.4662+144_4662+145del MANE Select ENSP00000219476.3:n.4662+144_4662+145del
ENST00000350773.9:c.4593+144_4593+145del ENSP00000344383.4:n.4593+144_4593+145del
ENST00000401874.7:c.4461+144_4461+145del ENSP00000384468.2:n.4461+144_4461+145del
ENST00000568454.6:c.4494+144_4494+145del ENSP00000454487.1:n.4494+144_4494+145del
ENST00000569110.2:c.885+144_885+145del
ENST00000569930.2:n.2544+144_2544+145del
ENST00000642365.1:c.3316+144_3316+145del
ENST00000642561.1:c.4533+144_4533+145del ENSP00000495099.1:n.4533+144_4533+145del
ENST00000642728.1:n.844+144_844+145del
ENST00000642791.1:n.259+144_259+145del
ENST00000642797.1:c.4464+144_4464+145del ENSP00000493846.1:n.4464+144_4464+145del
ENST00000642936.1:c.4530+144_4530+145del ENSP00000494514.1:n.4530+144_4530+145del
ENST00000643088.1:c.4455+144_4455+145del ENSP00000494747.1:n.4455+144_4455+145del
ENST00000643177.1:n.676+144_676+145del
ENST00000643426.1:n.2310+144_2310+145del
ENST00000643946.1:c.4587+144_4587+145del ENSP00000495927.1:n.4587+144_4587+145del
ENST00000644043.1:c.4533+144_4533+145del ENSP00000496262.1:n.4533+144_4533+145del
ENST00000644278.1:n.144+144_144+145del
ENST00000644329.1:c.4461+144_4461+145del ENSP00000496611.1:n.4461+144_4461+145del
ENST00000644335.1:c.4458+144_4458+145del ENSP00000496317.1:n.4458+144_4458+145del
ENST00000644399.1:c.4583+144_4583+145del
ENST00000645024.1:n.2746+144_2746+145del
ENST00000646388.1:c.4656+144_4656+145del ENSP00000495921.1:n.4656+144_4656+145del
ENST00000646634.1:n.3477+144_3477+145del
ENST00000646674.1:n.1914+144_1914+145del
ENST00000647042.1:n.1885+144_1885+145del
ENST00000647180.1:n.1775+144_1775+145del
ENST00000219476.7:c.4662+144_4662+145del ENSP00000219476.3:n.4662+144_4662+145del
ENST00000350773.8:c.4593+144_4593+145del ENSP00000344383.4:n.4593+144_4593+145del
ENST00000382538.10:c.4317+144_4317+145del ENSP00000371978.6:n.4317+144_4317+145del
ENST00000401874.6:c.4461+144_4461+145del ENSP00000384468.2:n.4461+144_4461+145del
ENST00000439117.6:c.*3829+144_*3829+145del ENSP00000406980.2:n.*3829+144_*3829+145del
ENST00000439673.6:c.4353+144_4353+145del ENSP00000399232.2:n.4353+144_4353+145del
ENST00000497886.5:n.2420+144_2420+145del
ENST00000568454.5:c.4494+144_4494+145del ENSP00000454487.1:n.4494+144_4494+145del
ENST00000569110.1:c.844+144_844+145del
ENST00000569930.1:n.1777+144_1777+145del
NM_000548.3:c.4662+144_4662+145del , LRG_487t1:c.4662+144_4662+145del NP_000539.2:n.4662+144_4662+145del
NM_001077183.1:c.4461+144_4461+145del NP_001070651.1:n.4461+144_4461+145del
NM_001114382.1:c.4593+144_4593+145del NP_001107854.1:n.4593+144_4593+145del
XM_005255529.3:c.4533+144_4533+145del XP_005255586.2:n.4533+144_4533+145del
XM_005255531.3:c.4464+144_4464+145del XP_005255588.2:n.4464+144_4464+145del
XM_011522636.1:c.4716+144_4716+145del XP_011520938.1:n.4716+144_4716+145del
XM_011522637.1:c.4713+144_4713+145del XP_011520939.1:n.4713+144_4713+145del
XM_011522638.1:c.4605+144_4605+145del XP_011520940.1:n.4605+144_4605+145del
XM_011522639.1:c.4587+144_4587+145del XP_011520941.1:n.4587+144_4587+145del
XM_011522640.1:c.4584+144_4584+145del XP_011520942.1:n.4584+144_4584+145del
XM_011522641.1:c.4353+144_4353+145del XP_011520943.1:n.4353+144_4353+145del
NM_000548.4:c.4662+144_4662+145del NP_000539.2:n.4662+144_4662+145del
NM_001077183.2:c.4461+144_4461+145del NP_001070651.1:n.4461+144_4461+145del
NM_001114382.2:c.4593+144_4593+145del NP_001107854.1:n.4593+144_4593+145del
NM_001318827.1:c.4353+144_4353+145del NP_001305756.1:n.4353+144_4353+145del
NM_001318829.1:c.4317+144_4317+145del NP_001305758.1:n.4317+144_4317+145del
NM_001318831.1:c.3930+144_3930+145del NP_001305760.1:n.3930+144_3930+145del
NM_001318832.1:c.4494+144_4494+145del NP_001305761.1:n.4494+144_4494+145del
NM_001363528.1:c.4464+144_4464+145del NP_001350457.1:n.4464+144_4464+145del
NM_021055.2:c.4533+144_4533+145del NP_066399.2:n.4533+144_4533+145del
XM_005255531.4:c.4464+144_4464+145del XP_005255588.2:n.4464+144_4464+145del
XM_011522636.2:c.4716+144_4716+145del XP_011520938.1:n.4716+144_4716+145del
XM_011522637.2:c.4713+144_4713+145del XP_011520939.1:n.4713+144_4713+145del
XM_011522638.2:c.4878+144_4878+145del XP_011520940.2:n.4878+144_4878+145del
XM_011522639.2:c.4587+144_4587+145del XP_011520941.1:n.4587+144_4587+145del
XM_011522640.2:c.4584+144_4584+145del XP_011520942.1:n.4584+144_4584+145del
XM_017023615.1:c.4659+144_4659+145del XP_016879104.1:n.4659+144_4659+145del
XM_017023616.1:c.4530+144_4530+145del XP_016879105.1:n.4530+144_4530+145del
XM_017023617.1:c.4626+144_4626+145del XP_016879106.1:n.4626+144_4626+145del
XM_017023618.1:c.3372+144_3372+145del XP_016879107.1:n.3372+144_3372+145del
XM_024450413.1:c.4461+144_4461+145del XP_024306181.1:n.4461+144_4461+145del
NM_000548.5:c.4662+144_4662+145del MANE Select NP_000539.2:n.4662+144_4662+145del
NM_001370404.1:c.4530+144_4530+145del NP_001357333.1:n.4530+144_4530+145del
NM_001370405.1:c.4533+144_4533+145del NP_001357334.1:n.4533+144_4533+145del
NM_001077183.3:c.4461+144_4461+145del NP_001070651.1:n.4461+144_4461+145del
NM_001114382.3:c.4593+144_4593+145del NP_001107854.1:n.4593+144_4593+145del
NM_001318827.2:c.4353+144_4353+145del NP_001305756.1:n.4353+144_4353+145del
NM_001318829.2:c.4317+144_4317+145del NP_001305758.1:n.4317+144_4317+145del
NM_001318831.2:c.3930+144_3930+145del NP_001305760.1:n.3930+144_3930+145del
NM_001318832.2:c.4494+144_4494+145del NP_001305761.1:n.4494+144_4494+145del
NM_001363528.2:c.4464+144_4464+145del NP_001350457.1:n.4464+144_4464+145del
NM_021055.3:c.4533+144_4533+145del NP_066399.2:n.4533+144_4533+145del
Search 100 bp 5'
Search 100 bp 3'