Canonical Allele Identifier: CA2631134106
Gene: TSC2 HGNC NCBI

Linked Data

gnomAD v4: 16-2070684-C-CCGT
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2070685_2070686insGTC , CM000678.2:g.2070685_2070686insGTC GRCh38
NC_000016.9:g.2120686_2120687insGTC , CM000678.1:g.2120686_2120687insGTC GRCh37
NC_000016.8:g.2060687_2060688insGTC NCBI36
NG_005895.1:g.26380_26381insGTC , LRG_487:g.26380_26381insGTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000568566.6:c.*386+107_*386+108insGTC ENSP00000455997.2:n.*386+107_*386+108insGTC
ENST00000642206.2:c.1884+107_1884+108insGTC ENSP00000495146.2:n.1884+107_1884+108insGTC
ENST00000642365.2:c.1839+107_1839+108insGTC ENSP00000495459.2:n.1839+107_1839+108insGTC
ENST00000644417.2:c.*1276+107_*1276+108insGTC ENSP00000493912.2:n.*1276+107_*1276+108insGTC
ENST00000646464.2:c.*1444+107_*1444+108insGTC ENSP00000496610.2:n.*1444+107_*1444+108insGTC
ENST00000219476.9:c.1839+107_1839+108insGTC MANE Select ENSP00000219476.3:n.1839+107_1839+108insGTC
ENST00000350773.9:c.1839+107_1839+108insGTC ENSP00000344383.4:n.1839+107_1839+108insGTC
ENST00000401874.7:c.1839+107_1839+108insGTC ENSP00000384468.2:n.1839+107_1839+108insGTC
ENST00000568454.6:c.1872+107_1872+108insGTC ENSP00000454487.1:n.1872+107_1872+108insGTC
ENST00000642365.1:c.496+107_496+108insGTC
ENST00000642561.1:c.1839+107_1839+108insGTC ENSP00000495099.1:n.1839+107_1839+108insGTC
ENST00000642797.1:c.1839+107_1839+108insGTC ENSP00000493846.1:n.1839+107_1839+108insGTC
ENST00000642936.1:c.1839+107_1839+108insGTC ENSP00000494514.1:n.1839+107_1839+108insGTC
ENST00000643088.1:c.1839+107_1839+108insGTC ENSP00000494747.1:n.1839+107_1839+108insGTC
ENST00000643298.1:c.*1341+107_*1341+108insGTC ENSP00000494393.1:n.*1341+107_*1341+108insGTC
ENST00000643946.1:c.1839+107_1839+108insGTC ENSP00000495927.1:n.1839+107_1839+108insGTC
ENST00000644043.1:c.1839+107_1839+108insGTC ENSP00000496262.1:n.1839+107_1839+108insGTC
ENST00000644135.1:c.*339+107_*339+108insGTC ENSP00000495644.1:n.*339+107_*339+108insGTC
ENST00000644329.1:c.1839+107_1839+108insGTC ENSP00000496611.1:n.1839+107_1839+108insGTC
ENST00000644335.1:c.1839+107_1839+108insGTC ENSP00000496317.1:n.1839+107_1839+108insGTC
ENST00000644399.1:c.1832+107_1832+108insGTC
ENST00000644847.1:n.831+107_831+108insGTC
ENST00000645552.1:n.119+107_119+108insGTC
ENST00000646388.1:c.1839+107_1839+108insGTC ENSP00000495921.1:n.1839+107_1839+108insGTC
ENST00000646634.1:n.852+107_852+108insGTC
ENST00000219476.7:c.1839+107_1839+108insGTC ENSP00000219476.3:n.1839+107_1839+108insGTC
ENST00000350773.8:c.1839+107_1839+108insGTC ENSP00000344383.4:n.1839+107_1839+108insGTC
ENST00000382538.10:c.1692+107_1692+108insGTC ENSP00000371978.6:n.1692+107_1692+108insGTC
ENST00000401874.6:c.1839+107_1839+108insGTC ENSP00000384468.2:n.1839+107_1839+108insGTC
ENST00000439117.6:c.*1138+107_*1138+108insGTC ENSP00000406980.2:n.*1138+107_*1138+108insGTC
ENST00000439673.6:c.1728+107_1728+108insGTC ENSP00000399232.2:n.1728+107_1728+108insGTC
ENST00000488675.5:n.346+107_346+108insGTC
ENST00000562474.1:n.564+107_564+108insGTC
ENST00000568454.5:c.1872+107_1872+108insGTC ENSP00000454487.1:n.1872+107_1872+108insGTC
ENST00000568566.5:c.479+107_479+108insGTC ENSP00000455997.1:n.479+107_479+108insGTC
NM_000548.3:c.1839+107_1839+108insGTC , LRG_487t1:c.1839+107_1839+108insGTC NP_000539.2:n.1839+107_1839+108insGTC
NM_001077183.1:c.1839+107_1839+108insGTC NP_001070651.1:n.1839+107_1839+108insGTC
NM_001114382.1:c.1839+107_1839+108insGTC NP_001107854.1:n.1839+107_1839+108insGTC
XM_005255529.3:c.1839+107_1839+108insGTC XP_005255586.2:n.1839+107_1839+108insGTC
XM_005255531.3:c.1839+107_1839+108insGTC XP_005255588.2:n.1839+107_1839+108insGTC
XM_011522636.1:c.1839+107_1839+108insGTC XP_011520938.1:n.1839+107_1839+108insGTC
XM_011522637.1:c.1839+107_1839+108insGTC XP_011520939.1:n.1839+107_1839+108insGTC
XM_011522638.1:c.1728+107_1728+108insGTC XP_011520940.1:n.1728+107_1728+108insGTC
XM_011522639.1:c.1839+107_1839+108insGTC XP_011520941.1:n.1839+107_1839+108insGTC
XM_011522640.1:c.1839+107_1839+108insGTC XP_011520942.1:n.1839+107_1839+108insGTC
XM_011522641.1:c.1728+107_1728+108insGTC XP_011520943.1:n.1728+107_1728+108insGTC
NM_000548.4:c.1839+107_1839+108insGTC NP_000539.2:n.1839+107_1839+108insGTC
NM_001077183.2:c.1839+107_1839+108insGTC NP_001070651.1:n.1839+107_1839+108insGTC
NM_001114382.2:c.1839+107_1839+108insGTC NP_001107854.1:n.1839+107_1839+108insGTC
NM_001318827.1:c.1728+107_1728+108insGTC NP_001305756.1:n.1728+107_1728+108insGTC
NM_001318829.1:c.1692+107_1692+108insGTC NP_001305758.1:n.1692+107_1692+108insGTC
NM_001318831.1:c.1239+107_1239+108insGTC NP_001305760.1:n.1239+107_1239+108insGTC
NM_001318832.1:c.1872+107_1872+108insGTC NP_001305761.1:n.1872+107_1872+108insGTC
NM_001363528.1:c.1839+107_1839+108insGTC NP_001350457.1:n.1839+107_1839+108insGTC
NM_021055.2:c.1839+107_1839+108insGTC NP_066399.2:n.1839+107_1839+108insGTC
XM_005255531.4:c.1839+107_1839+108insGTC XP_005255588.2:n.1839+107_1839+108insGTC
XM_011522636.2:c.1839+107_1839+108insGTC XP_011520938.1:n.1839+107_1839+108insGTC
XM_011522637.2:c.1839+107_1839+108insGTC XP_011520939.1:n.1839+107_1839+108insGTC
XM_011522638.2:c.2001+107_2001+108insGTC XP_011520940.2:n.2001+107_2001+108insGTC
XM_011522639.2:c.1839+107_1839+108insGTC XP_011520941.1:n.1839+107_1839+108insGTC
XM_011522640.2:c.1839+107_1839+108insGTC XP_011520942.1:n.1839+107_1839+108insGTC
XM_017023615.1:c.1839+107_1839+108insGTC XP_016879104.1:n.1839+107_1839+108insGTC
XM_017023616.1:c.1839+107_1839+108insGTC XP_016879105.1:n.1839+107_1839+108insGTC
XM_017023617.1:c.2001+107_2001+108insGTC XP_016879106.1:n.2001+107_2001+108insGTC
XM_017023618.1:c.495+107_495+108insGTC XP_016879107.1:n.495+107_495+108insGTC
XM_024450413.1:c.1839+107_1839+108insGTC XP_024306181.1:n.1839+107_1839+108insGTC
NM_000548.5:c.1839+107_1839+108insGTC MANE Select NP_000539.2:n.1839+107_1839+108insGTC
NM_001370404.1:c.1839+107_1839+108insGTC NP_001357333.1:n.1839+107_1839+108insGTC
NM_001370405.1:c.1839+107_1839+108insGTC NP_001357334.1:n.1839+107_1839+108insGTC
NM_001077183.3:c.1839+107_1839+108insGTC NP_001070651.1:n.1839+107_1839+108insGTC
NM_001114382.3:c.1839+107_1839+108insGTC NP_001107854.1:n.1839+107_1839+108insGTC
NM_001318827.2:c.1728+107_1728+108insGTC NP_001305756.1:n.1728+107_1728+108insGTC
NM_001318829.2:c.1692+107_1692+108insGTC NP_001305758.1:n.1692+107_1692+108insGTC
NM_001318831.2:c.1239+107_1239+108insGTC NP_001305760.1:n.1239+107_1239+108insGTC
NM_001318832.2:c.1872+107_1872+108insGTC NP_001305761.1:n.1872+107_1872+108insGTC
NM_001363528.2:c.1839+107_1839+108insGTC NP_001350457.1:n.1839+107_1839+108insGTC
NM_021055.3:c.1839+107_1839+108insGTC NP_066399.2:n.1839+107_1839+108insGTC
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