Canonical Allele Identifier: CA658658369
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 467917
ClinVar RCV Id: RCV000554874 RCV000563982
dbSNP Id: rs1555506090
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2071860_2071861delinsTT , CM000678.2:g.2071860_2071861delinsTT GRCh38
NC_000016.9:g.2121861_2121862delinsTT , CM000678.1:g.2121861_2121862delinsTT GRCh37
NC_000016.8:g.2061862_2061863delinsTT NCBI36
NG_005895.1:g.27555_27556delinsTT , LRG_487:g.27555_27556delinsTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000568566.6:c.*570_*571delinsTT ENSP00000455997.2:n.*570_*571delinsTT
ENST00000642206.2:c.2068_2069delinsTT ENSP00000495146.2:p.Ala690Leu
ENST00000642365.2:c.2023_2024delinsTT ENSP00000495459.2:p.Ala675Leu
ENST00000644417.2:c.*1460_*1461delinsTT ENSP00000493912.2:n.*1460_*1461delinsTT
ENST00000646464.2:c.*1628_*1629delinsTT ENSP00000496610.2:n.*1628_*1629delinsTT
ENST00000219476.9:c.2023_2024delinsTT MANE Select ENSP00000219476.3:p.Ala675Leu
ENST00000350773.9:c.2023_2024delinsTT ENSP00000344383.4:p.Ala675Leu
ENST00000401874.7:c.2023_2024delinsTT ENSP00000384468.2:p.Ala675Leu
ENST00000563346.2:n.201_202delinsTT
ENST00000568454.6:c.2056_2057delinsTT ENSP00000454487.1:p.Ala686Leu
ENST00000642365.1:c.680_681delinsTT
ENST00000642561.1:c.2023_2024delinsTT ENSP00000495099.1:p.Ala675Leu
ENST00000642797.1:c.2023_2024delinsTT ENSP00000493846.1:p.Ala675Leu
ENST00000642936.1:c.2023_2024delinsTT ENSP00000494514.1:p.Ala675Leu
ENST00000643088.1:c.2023_2024delinsTT ENSP00000494747.1:p.Ala675Leu
ENST00000643298.1:c.*1525_*1526delinsTT ENSP00000494393.1:n.*1525_*1526delinsTT
ENST00000643946.1:c.2023_2024delinsTT ENSP00000495927.1:p.Ala675Leu
ENST00000644043.1:c.2023_2024delinsTT ENSP00000496262.1:p.Ala675Leu
ENST00000644329.1:c.2023_2024delinsTT ENSP00000496611.1:p.Ala675Leu
ENST00000644335.1:c.2023_2024delinsTT ENSP00000496317.1:p.Ala675Leu
ENST00000644399.1:c.2016_2017delinsTT
ENST00000644847.1:n.1015_1016delinsTT
ENST00000645024.1:n.305_306delinsTT
ENST00000645552.1:n.303_304delinsTT
ENST00000646388.1:c.2023_2024delinsTT ENSP00000495921.1:p.Ala675Leu
ENST00000646464.1:c.76_77delinsTT ENSP00000496610.1:p.Ala26Leu
ENST00000646634.1:n.1036_1037delinsTT
ENST00000219476.7:c.2023_2024delinsTT ENSP00000219476.3:p.Ala675Leu
ENST00000350773.8:c.2023_2024delinsTT ENSP00000344383.4:p.Ala675Leu
ENST00000382538.10:c.1876_1877delinsTT ENSP00000371978.6:p.Ala626Leu
ENST00000401874.6:c.2023_2024delinsTT ENSP00000384468.2:p.Ala675Leu
ENST00000439117.6:c.*1322_*1323delinsTT ENSP00000406980.2:n.*1322_*1323delinsTT
ENST00000439673.6:c.1912_1913delinsTT ENSP00000399232.2:p.Ala638Leu
ENST00000488675.5:n.530_531delinsTT
ENST00000563346.1:n.92_93delinsTT
ENST00000568454.5:c.2056_2057delinsTT ENSP00000454487.1:p.Ala686Leu
NM_000548.3:c.2023_2024delinsTT , LRG_487t1:c.2023_2024delinsTT NP_000539.2:p.Ala675Leu
NM_001077183.1:c.2023_2024delinsTT NP_001070651.1:p.Ala675Leu
NM_001114382.1:c.2023_2024delinsTT NP_001107854.1:p.Ala675Leu
XM_005255529.3:c.2023_2024delinsTT XP_005255586.2:p.Ala675Leu
XM_005255531.3:c.2023_2024delinsTT XP_005255588.2:p.Ala675Leu
XM_011522636.1:c.2023_2024delinsTT XP_011520938.1:p.Ala675Leu
XM_011522637.1:c.2023_2024delinsTT XP_011520939.1:p.Ala675Leu
XM_011522638.1:c.1912_1913delinsTT XP_011520940.1:p.Ala638Leu
XM_011522639.1:c.2023_2024delinsTT XP_011520941.1:p.Ala675Leu
XM_011522640.1:c.2023_2024delinsTT XP_011520942.1:p.Ala675Leu
XM_011522641.1:c.1912_1913delinsTT XP_011520943.1:p.Ala638Leu
NM_000548.4:c.2023_2024delinsTT NP_000539.2:p.Ala675Leu
NM_001077183.2:c.2023_2024delinsTT NP_001070651.1:p.Ala675Leu
NM_001114382.2:c.2023_2024delinsTT NP_001107854.1:p.Ala675Leu
NM_001318827.1:c.1912_1913delinsTT NP_001305756.1:p.Ala638Leu
NM_001318829.1:c.1876_1877delinsTT NP_001305758.1:p.Ala626Leu
NM_001318831.1:c.1423_1424delinsTT NP_001305760.1:p.Ala475Leu
NM_001318832.1:c.2056_2057delinsTT NP_001305761.1:p.Ala686Leu
NM_001363528.1:c.2023_2024delinsTT NP_001350457.1:p.Ala675Leu
NM_021055.2:c.2023_2024delinsTT NP_066399.2:p.Ala675Leu
XM_005255531.4:c.2023_2024delinsTT XP_005255588.2:p.Ala675Leu
XM_011522636.2:c.2023_2024delinsTT XP_011520938.1:p.Ala675Leu
XM_011522637.2:c.2023_2024delinsTT XP_011520939.1:p.Ala675Leu
XM_011522638.2:c.2185_2186delinsTT XP_011520940.2:p.Ala729Leu
XM_011522639.2:c.2023_2024delinsTT XP_011520941.1:p.Ala675Leu
XM_011522640.2:c.2023_2024delinsTT XP_011520942.1:p.Ala675Leu
XM_017023615.1:c.2023_2024delinsTT XP_016879104.1:p.Ala675Leu
XM_017023616.1:c.2023_2024delinsTT XP_016879105.1:p.Ala675Leu
XM_017023617.1:c.2185_2186delinsTT XP_016879106.1:p.Ala729Leu
XM_017023618.1:c.679_680delinsTT XP_016879107.1:p.Ala227Leu
XM_024450413.1:c.2023_2024delinsTT XP_024306181.1:p.Ala675Leu
NM_000548.5:c.2023_2024delinsTT MANE Select NP_000539.2:p.Ala675Leu
NM_001370404.1:c.2023_2024delinsTT NP_001357333.1:p.Ala675Leu
NM_001370405.1:c.2023_2024delinsTT NP_001357334.1:p.Ala675Leu
NM_001077183.3:c.2023_2024delinsTT NP_001070651.1:p.Ala675Leu
NM_001114382.3:c.2023_2024delinsTT NP_001107854.1:p.Ala675Leu
NM_001318827.2:c.1912_1913delinsTT NP_001305756.1:p.Ala638Leu
NM_001318829.2:c.1876_1877delinsTT NP_001305758.1:p.Ala626Leu
NM_001318831.2:c.1423_1424delinsTT NP_001305760.1:p.Ala475Leu
NM_001318832.2:c.2056_2057delinsTT NP_001305761.1:p.Ala686Leu
NM_001363528.2:c.2023_2024delinsTT NP_001350457.1:p.Ala675Leu
NM_021055.3:c.2023_2024delinsTT NP_066399.2:p.Ala675Leu
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