Canonical Allele Identifier: CA2202028394
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2079264_2079266delinsCCT , CM000678.2:g.2079264_2079266delinsCCT GRCh38
NC_000016.9:g.2129265_2129267delinsCCT , CM000678.1:g.2129265_2129267delinsCCT GRCh37
NC_000016.8:g.2069266_2069268delinsCCT NCBI36
NG_005895.1:g.34959_34961delinsCCT , LRG_487:g.34959_34961delinsCCT

Transcript Alleles

HGVS Amino-acid change
ENST00000568566.6:c.*1550-12_*1550-10delinsCCT ENSP00000455997.2:n.*1550-12_*1550-10deli...
ENST00000642206.2:c.3048-12_3048-10delinsCCT ENSP00000495146.2:n.3048-12_3048-10delins...
ENST00000642365.2:c.3129-12_3129-10delinsCCT ENSP00000495459.2:n.3129-12_3129-10delins...
ENST00000644417.2:c.*3581-12_*3581-10delinsCCT ENSP00000493912.2:n.*3581-12_*3581-10deli...
ENST00000646464.2:c.*4054-12_*4054-10delinsCCT ENSP00000496610.2:n.*4054-12_*4054-10deli...
ENST00000219476.9:c.3132-12_3132-10delinsCCT MANE Select ENSP00000219476.3:n.3132-12_3132-10delins...
ENST00000350773.9:c.3132-12_3132-10delinsCCT ENSP00000344383.4:n.3132-12_3132-10delins...
ENST00000401874.7:c.3000-12_3000-10delinsCCT ENSP00000384468.2:n.3000-12_3000-10delins...
ENST00000471143.6:c.360-12_360-10delinsCCT ENSP00000458541.2:n.360-12_360-10delinsCC...
ENST00000568366.6:n.489-12_489-10delinsCCT
ENST00000568454.6:c.3033-12_3033-10delinsCCT ENSP00000454487.1:n.3033-12_3033-10delins...
ENST00000642365.1:c.1786-12_1786-10delinsCCT
ENST00000642561.1:c.3003-12_3003-10delinsCCT ENSP00000495099.1:n.3003-12_3003-10delins...
ENST00000642797.1:c.3003-12_3003-10delinsCCT ENSP00000493846.1:n.3003-12_3003-10delins...
ENST00000642936.1:c.3000-12_3000-10delinsCCT ENSP00000494514.1:n.3000-12_3000-10delins...
ENST00000643088.1:c.3000-12_3000-10delinsCCT ENSP00000494747.1:n.3000-12_3000-10delins...
ENST00000643946.1:c.3132-12_3132-10delinsCCT ENSP00000495927.1:n.3132-12_3132-10delins...
ENST00000644043.1:c.3003-12_3003-10delinsCCT ENSP00000496262.1:n.3003-12_3003-10delins...
ENST00000644329.1:c.3000-12_3000-10delinsCCT ENSP00000496611.1:n.3000-12_3000-10delins...
ENST00000644335.1:c.3003-12_3003-10delinsCCT ENSP00000496317.1:n.3003-12_3003-10delins...
ENST00000644399.1:c.3122-12_3122-10delinsCCT
ENST00000644722.1:n.278-12_278-10delinsCCT
ENST00000645024.1:n.1285-12_1285-10delinsCCT
ENST00000646388.1:c.3132-12_3132-10delinsCCT ENSP00000495921.1:n.3132-12_3132-10delins...
ENST00000646634.1:n.2016-12_2016-10delinsCCT
ENST00000647042.1:n.424-12_424-10delinsCCT
ENST00000219476.7:c.3132-12_3132-10delinsCCT ENSP00000219476.3:n.3132-12_3132-10delins...
ENST00000350773.8:c.3132-12_3132-10delinsCCT ENSP00000344383.4:n.3132-12_3132-10delins...
ENST00000382538.10:c.2856-12_2856-10delinsCCT ENSP00000371978.6:n.2856-12_2856-10delins...
ENST00000401874.6:c.3000-12_3000-10delinsCCT ENSP00000384468.2:n.3000-12_3000-10delins...
ENST00000439117.6:c.*2299-12_*2299-10delinsCCT ENSP00000406980.2:n.*2299-12_*2299-10deli...
ENST00000439673.6:c.2892-12_2892-10delinsCCT ENSP00000399232.2:n.2892-12_2892-10delins...
ENST00000471143.5:c.358-12_358-10delinsCCT
ENST00000483020.5:c.372-12_372-10delinsCCT ENSP00000460310.1:n.372-12_372-10delinsCC...
ENST00000497886.5:n.959-12_959-10delinsCCT
ENST00000561695.1:n.345_347delinsCCT
ENST00000568366.5:n.489-12_489-10delinsCCT
ENST00000568454.5:c.3033-12_3033-10delinsCCT ENSP00000454487.1:n.3033-12_3033-10delins...
NM_000548.3:c.3132-12_3132-10delinsCCT , LRG_487t1:c.3132-12_3132-10delinsCCT NP_000539.2:n.3132-12_3132-10delinsCCT
NM_001077183.1:c.3000-12_3000-10delinsCCT NP_001070651.1:n.3000-12_3000-10delinsCCT...
NM_001114382.1:c.3132-12_3132-10delinsCCT NP_001107854.1:n.3132-12_3132-10delinsCCT...
XM_005255529.3:c.3003-12_3003-10delinsCCT XP_005255586.2:n.3003-12_3003-10delinsCCT...
XM_005255531.3:c.3003-12_3003-10delinsCCT XP_005255588.2:n.3003-12_3003-10delinsCCT...
XM_011522636.1:c.3132-12_3132-10delinsCCT XP_011520938.1:n.3132-12_3132-10delinsCCT...
XM_011522637.1:c.3129-12_3129-10delinsCCT XP_011520939.1:n.3129-12_3129-10delinsCCT...
XM_011522638.1:c.3021-12_3021-10delinsCCT XP_011520940.1:n.3021-12_3021-10delinsCCT...
XM_011522639.1:c.3003-12_3003-10delinsCCT XP_011520941.1:n.3003-12_3003-10delinsCCT...
XM_011522640.1:c.3000-12_3000-10delinsCCT XP_011520942.1:n.3000-12_3000-10delinsCCT...
XM_011522641.1:c.2892-12_2892-10delinsCCT XP_011520943.1:n.2892-12_2892-10delinsCCT...
NM_000548.4:c.3132-12_3132-10delinsCCT NP_000539.2:n.3132-12_3132-10delinsCCT
NM_001077183.2:c.3000-12_3000-10delinsCCT NP_001070651.1:n.3000-12_3000-10delinsCCT...
NM_001114382.2:c.3132-12_3132-10delinsCCT NP_001107854.1:n.3132-12_3132-10delinsCCT...
NM_001318827.1:c.2892-12_2892-10delinsCCT NP_001305756.1:n.2892-12_2892-10delinsCCT...
NM_001318829.1:c.2856-12_2856-10delinsCCT NP_001305758.1:n.2856-12_2856-10delinsCCT...
NM_001318831.1:c.2400-12_2400-10delinsCCT NP_001305760.1:n.2400-12_2400-10delinsCCT...
NM_001318832.1:c.3033-12_3033-10delinsCCT NP_001305761.1:n.3033-12_3033-10delinsCCT...
NM_001363528.1:c.3003-12_3003-10delinsCCT NP_001350457.1:n.3003-12_3003-10delinsCCT...
NM_021055.2:c.3003-12_3003-10delinsCCT NP_066399.2:n.3003-12_3003-10delinsCCT
XM_005255531.4:c.3003-12_3003-10delinsCCT XP_005255588.2:n.3003-12_3003-10delinsCCT...
XM_011522636.2:c.3132-12_3132-10delinsCCT XP_011520938.1:n.3132-12_3132-10delinsCCT...
XM_011522637.2:c.3129-12_3129-10delinsCCT XP_011520939.1:n.3129-12_3129-10delinsCCT...
XM_011522638.2:c.3294-12_3294-10delinsCCT XP_011520940.2:n.3294-12_3294-10delinsCCT...
XM_011522639.2:c.3003-12_3003-10delinsCCT XP_011520941.1:n.3003-12_3003-10delinsCCT...
XM_011522640.2:c.3000-12_3000-10delinsCCT XP_011520942.1:n.3000-12_3000-10delinsCCT...
XM_017023615.1:c.3129-12_3129-10delinsCCT XP_016879104.1:n.3129-12_3129-10delinsCCT...
XM_017023616.1:c.3000-12_3000-10delinsCCT XP_016879105.1:n.3000-12_3000-10delinsCCT...
XM_017023617.1:c.3165-12_3165-10delinsCCT XP_016879106.1:n.3165-12_3165-10delinsCCT...
XM_017023618.1:c.1788-12_1788-10delinsCCT XP_016879107.1:n.1788-12_1788-10delinsCCT...
XM_024450413.1:c.3000-12_3000-10delinsCCT XP_024306181.1:n.3000-12_3000-10delinsCCT...
NM_000548.5:c.3132-12_3132-10delinsCCT MANE Select NP_000539.2:n.3132-12_3132-10delinsCCT
NM_001370404.1:c.3000-12_3000-10delinsCCT NP_001357333.1:n.3000-12_3000-10delinsCCT...
NM_001370405.1:c.3003-12_3003-10delinsCCT NP_001357334.1:n.3003-12_3003-10delinsCCT...
NM_001077183.3:c.3000-12_3000-10delinsCCT NP_001070651.1:n.3000-12_3000-10delinsCCT...
NM_001114382.3:c.3132-12_3132-10delinsCCT NP_001107854.1:n.3132-12_3132-10delinsCCT...
NM_001318827.2:c.2892-12_2892-10delinsCCT NP_001305756.1:n.2892-12_2892-10delinsCCT...
NM_001318829.2:c.2856-12_2856-10delinsCCT NP_001305758.1:n.2856-12_2856-10delinsCCT...
NM_001318831.2:c.2400-12_2400-10delinsCCT NP_001305760.1:n.2400-12_2400-10delinsCCT...
NM_001318832.2:c.3033-12_3033-10delinsCCT NP_001305761.1:n.3033-12_3033-10delinsCCT...
NM_001363528.2:c.3003-12_3003-10delinsCCT NP_001350457.1:n.3003-12_3003-10delinsCCT...
NM_021055.3:c.3003-12_3003-10delinsCCT NP_066399.2:n.3003-12_3003-10delinsCCT