Canonical Allele Identifier: CA2631120269
Gene: TSC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2080080del , CM000678.2:g.2080080del GRCh38
NC_000016.9:g.2130081del , CM000678.1:g.2130081del GRCh37
NC_000016.8:g.2070082del NCBI36
NG_005895.1:g.35775del , LRG_487:g.35775del

Transcript Alleles

HGVS Amino-acid change
ENST00000568566.6:c.*1816-85del ENSP00000455997.2:n.*1816-85del
ENST00000642206.2:c.3314-85del ENSP00000495146.2:n.3314-85del
ENST00000642365.2:c.3395-85del ENSP00000495459.2:n.3395-85del
ENST00000644417.2:c.*3847-85del ENSP00000493912.2:n.*3847-85del
ENST00000646464.2:c.*4320-85del ENSP00000496610.2:n.*4320-85del
ENST00000219476.9:c.3398-85del MANE Select ENSP00000219476.3:n.3398-85del
ENST00000350773.9:c.3398-85del ENSP00000344383.4:n.3398-85del
ENST00000401874.7:c.3266-85del ENSP00000384468.2:n.3266-85del
ENST00000568454.6:c.3299-85del ENSP00000454487.1:n.3299-85del
ENST00000642365.1:c.2052-85del
ENST00000642561.1:c.3269-85del ENSP00000495099.1:n.3269-85del
ENST00000642797.1:c.3269-85del ENSP00000493846.1:n.3269-85del
ENST00000642936.1:c.3266-85del ENSP00000494514.1:n.3266-85del
ENST00000643088.1:c.3266-85del ENSP00000494747.1:n.3266-85del
ENST00000643946.1:c.3398-85del ENSP00000495927.1:n.3398-85del
ENST00000644043.1:c.3269-85del ENSP00000496262.1:n.3269-85del
ENST00000644329.1:c.3266-85del ENSP00000496611.1:n.3266-85del
ENST00000644335.1:c.3269-85del ENSP00000496317.1:n.3269-85del
ENST00000644399.1:c.3388-85del
ENST00000644722.1:n.544-85del
ENST00000645024.1:n.1551-85del
ENST00000646388.1:c.3398-85del ENSP00000495921.1:n.3398-85del
ENST00000646634.1:n.2282-85del
ENST00000646674.1:n.13-85del
ENST00000647042.1:n.690-85del
ENST00000219476.7:c.3398-85del ENSP00000219476.3:n.3398-85del
ENST00000350773.8:c.3398-85del ENSP00000344383.4:n.3398-85del
ENST00000382538.10:c.3122-85del ENSP00000371978.6:n.3122-85del
ENST00000401874.6:c.3266-85del ENSP00000384468.2:n.3266-85del
ENST00000439117.6:c.*2565-85del ENSP00000406980.2:n.*2565-85del
ENST00000439673.6:c.3158-85del ENSP00000399232.2:n.3158-85del
ENST00000497886.5:n.1225-85del
ENST00000568366.5:n.755-85del
ENST00000568454.5:c.3299-85del ENSP00000454487.1:n.3299-85del
NM_000548.3:c.3398-85del , LRG_487t1:c.3398-85del NP_000539.2:n.3398-85del
NM_001077183.1:c.3266-85del NP_001070651.1:n.3266-85del
NM_001114382.1:c.3398-85del NP_001107854.1:n.3398-85del
XM_005255529.3:c.3269-85del XP_005255586.2:n.3269-85del
XM_005255531.3:c.3269-85del XP_005255588.2:n.3269-85del
XM_011522636.1:c.3398-85del XP_011520938.1:n.3398-85del
XM_011522637.1:c.3395-85del XP_011520939.1:n.3395-85del
XM_011522638.1:c.3287-85del XP_011520940.1:n.3287-85del
XM_011522639.1:c.3269-85del XP_011520941.1:n.3269-85del
XM_011522640.1:c.3266-85del XP_011520942.1:n.3266-85del
XM_011522641.1:c.3158-85del XP_011520943.1:n.3158-85del
NM_000548.4:c.3398-85del NP_000539.2:n.3398-85del
NM_001077183.2:c.3266-85del NP_001070651.1:n.3266-85del
NM_001114382.2:c.3398-85del NP_001107854.1:n.3398-85del
NM_001318827.1:c.3158-85del NP_001305756.1:n.3158-85del
NM_001318829.1:c.3122-85del NP_001305758.1:n.3122-85del
NM_001318831.1:c.2666-85del NP_001305760.1:n.2666-85del
NM_001318832.1:c.3299-85del NP_001305761.1:n.3299-85del
NM_001363528.1:c.3269-85del NP_001350457.1:n.3269-85del
NM_021055.2:c.3269-85del NP_066399.2:n.3269-85del
XM_005255531.4:c.3269-85del XP_005255588.2:n.3269-85del
XM_011522636.2:c.3398-85del XP_011520938.1:n.3398-85del
XM_011522637.2:c.3395-85del XP_011520939.1:n.3395-85del
XM_011522638.2:c.3560-85del XP_011520940.2:n.3560-85del
XM_011522639.2:c.3269-85del XP_011520941.1:n.3269-85del
XM_011522640.2:c.3266-85del XP_011520942.1:n.3266-85del
XM_017023615.1:c.3395-85del XP_016879104.1:n.3395-85del
XM_017023616.1:c.3266-85del XP_016879105.1:n.3266-85del
XM_017023617.1:c.3431-85del XP_016879106.1:n.3431-85del
XM_017023618.1:c.2054-85del XP_016879107.1:n.2054-85del
XM_024450413.1:c.3266-85del XP_024306181.1:n.3266-85del
NM_000548.5:c.3398-85del MANE Select NP_000539.2:n.3398-85del
NM_001370404.1:c.3266-85del NP_001357333.1:n.3266-85del
NM_001370405.1:c.3269-85del NP_001357334.1:n.3269-85del
NM_001077183.3:c.3266-85del NP_001070651.1:n.3266-85del
NM_001114382.3:c.3398-85del NP_001107854.1:n.3398-85del
NM_001318827.2:c.3158-85del NP_001305756.1:n.3158-85del
NM_001318829.2:c.3122-85del NP_001305758.1:n.3122-85del
NM_001318831.2:c.2666-85del NP_001305760.1:n.2666-85del
NM_001318832.2:c.3299-85del NP_001305761.1:n.3299-85del
NM_001363528.2:c.3269-85del NP_001350457.1:n.3269-85del
NM_021055.3:c.3269-85del NP_066399.2:n.3269-85del