Canonical Allele Identifier: CA2631119387
Gene: TSC2 HGNC NCBI

Linked Data

gnomAD v4: 16-2074181-G-GGTGTCCT
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2074184_2074190dup , CM000678.2:g.2074184_2074190dup GRCh38
NC_000016.9:g.2124185_2124191dup , CM000678.1:g.2124185_2124191dup GRCh37
NC_000016.8:g.2064186_2064192dup NCBI36
NG_005895.1:g.29879_29885dup , LRG_487:g.29879_29885dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000568566.6:c.*903-16_*903-10dup ENSP00000455997.2:n.*903-16_*903-10dup
ENST00000642206.2:c.2401-16_2401-10dup ENSP00000495146.2:n.2401-16_2401-10dup
ENST00000642365.2:c.2356-16_2356-10dup ENSP00000495459.2:n.2356-16_2356-10dup
ENST00000644417.2:c.*1793-16_*1793-10dup ENSP00000493912.2:n.*1793-16_*1793-10dup
ENST00000646464.2:c.*2001-16_*2001-10dup ENSP00000496610.2:n.*2001-16_*2001-10dup
ENST00000219476.9:c.2356-16_2356-10dup MANE Select ENSP00000219476.3:n.2356-16_2356-10dup
ENST00000350773.9:c.2356-16_2356-10dup ENSP00000344383.4:n.2356-16_2356-10dup
ENST00000401874.7:c.2356-16_2356-10dup ENSP00000384468.2:n.2356-16_2356-10dup
ENST00000563346.2:n.534-16_534-10dup
ENST00000568454.6:c.2389-16_2389-10dup ENSP00000454487.1:n.2389-16_2389-10dup
ENST00000642365.1:c.1013-16_1013-10dup
ENST00000642561.1:c.2356-16_2356-10dup ENSP00000495099.1:n.2356-16_2356-10dup
ENST00000642797.1:c.2356-16_2356-10dup ENSP00000493846.1:n.2356-16_2356-10dup
ENST00000642936.1:c.2356-16_2356-10dup ENSP00000494514.1:n.2356-16_2356-10dup
ENST00000643088.1:c.2356-16_2356-10dup ENSP00000494747.1:n.2356-16_2356-10dup
ENST00000643298.1:c.*1858-16_*1858-10dup ENSP00000494393.1:n.*1858-16_*1858-10dup
ENST00000643946.1:c.2356-16_2356-10dup ENSP00000495927.1:n.2356-16_2356-10dup
ENST00000644043.1:c.2356-16_2356-10dup ENSP00000496262.1:n.2356-16_2356-10dup
ENST00000644329.1:c.2356-16_2356-10dup ENSP00000496611.1:n.2356-16_2356-10dup
ENST00000644335.1:c.2356-16_2356-10dup ENSP00000496317.1:n.2356-16_2356-10dup
ENST00000644399.1:c.2349-16_2349-10dup
ENST00000644847.1:n.1348-16_1348-10dup
ENST00000645024.1:n.638-16_638-10dup
ENST00000645552.1:n.636-16_636-10dup
ENST00000646388.1:c.2356-16_2356-10dup ENSP00000495921.1:n.2356-16_2356-10dup
ENST00000646464.1:c.449-16_449-10dup ENSP00000496610.1:n.449-16_449-10dup
ENST00000646634.1:n.1369-16_1369-10dup
ENST00000219476.7:c.2356-16_2356-10dup ENSP00000219476.3:n.2356-16_2356-10dup
ENST00000350773.8:c.2356-16_2356-10dup ENSP00000344383.4:n.2356-16_2356-10dup
ENST00000382538.10:c.2209-16_2209-10dup ENSP00000371978.6:n.2209-16_2209-10dup
ENST00000401874.6:c.2356-16_2356-10dup ENSP00000384468.2:n.2356-16_2356-10dup
ENST00000439117.6:c.*1655-16_*1655-10dup ENSP00000406980.2:n.*1655-16_*1655-10dup
ENST00000439673.6:c.2245-16_2245-10dup ENSP00000399232.2:n.2245-16_2245-10dup
ENST00000463808.1:n.390-16_390-10dup
ENST00000563346.1:n.425-16_425-10dup
ENST00000568454.5:c.2389-16_2389-10dup ENSP00000454487.1:n.2389-16_2389-10dup
NM_000548.3:c.2356-16_2356-10dup , LRG_487t1:c.2356-16_2356-10dup NP_000539.2:n.2356-16_2356-10dup
NM_001077183.1:c.2356-16_2356-10dup NP_001070651.1:n.2356-16_2356-10dup
NM_001114382.1:c.2356-16_2356-10dup NP_001107854.1:n.2356-16_2356-10dup
XM_005255529.3:c.2356-16_2356-10dup XP_005255586.2:n.2356-16_2356-10dup
XM_005255531.3:c.2356-16_2356-10dup XP_005255588.2:n.2356-16_2356-10dup
XM_011522636.1:c.2356-16_2356-10dup XP_011520938.1:n.2356-16_2356-10dup
XM_011522637.1:c.2356-16_2356-10dup XP_011520939.1:n.2356-16_2356-10dup
XM_011522638.1:c.2245-16_2245-10dup XP_011520940.1:n.2245-16_2245-10dup
XM_011522639.1:c.2356-16_2356-10dup XP_011520941.1:n.2356-16_2356-10dup
XM_011522640.1:c.2356-16_2356-10dup XP_011520942.1:n.2356-16_2356-10dup
XM_011522641.1:c.2245-16_2245-10dup XP_011520943.1:n.2245-16_2245-10dup
NM_000548.4:c.2356-16_2356-10dup NP_000539.2:n.2356-16_2356-10dup
NM_001077183.2:c.2356-16_2356-10dup NP_001070651.1:n.2356-16_2356-10dup
NM_001114382.2:c.2356-16_2356-10dup NP_001107854.1:n.2356-16_2356-10dup
NM_001318827.1:c.2245-16_2245-10dup NP_001305756.1:n.2245-16_2245-10dup
NM_001318829.1:c.2209-16_2209-10dup NP_001305758.1:n.2209-16_2209-10dup
NM_001318831.1:c.1756-16_1756-10dup NP_001305760.1:n.1756-16_1756-10dup
NM_001318832.1:c.2389-16_2389-10dup NP_001305761.1:n.2389-16_2389-10dup
NM_001363528.1:c.2356-16_2356-10dup NP_001350457.1:n.2356-16_2356-10dup
NM_021055.2:c.2356-16_2356-10dup NP_066399.2:n.2356-16_2356-10dup
XM_005255531.4:c.2356-16_2356-10dup XP_005255588.2:n.2356-16_2356-10dup
XM_011522636.2:c.2356-16_2356-10dup XP_011520938.1:n.2356-16_2356-10dup
XM_011522637.2:c.2356-16_2356-10dup XP_011520939.1:n.2356-16_2356-10dup
XM_011522638.2:c.2518-16_2518-10dup XP_011520940.2:n.2518-16_2518-10dup
XM_011522639.2:c.2356-16_2356-10dup XP_011520941.1:n.2356-16_2356-10dup
XM_011522640.2:c.2356-16_2356-10dup XP_011520942.1:n.2356-16_2356-10dup
XM_017023615.1:c.2356-16_2356-10dup XP_016879104.1:n.2356-16_2356-10dup
XM_017023616.1:c.2356-16_2356-10dup XP_016879105.1:n.2356-16_2356-10dup
XM_017023617.1:c.2518-16_2518-10dup XP_016879106.1:n.2518-16_2518-10dup
XM_017023618.1:c.1012-16_1012-10dup XP_016879107.1:n.1012-16_1012-10dup
XM_024450413.1:c.2356-16_2356-10dup XP_024306181.1:n.2356-16_2356-10dup
NM_000548.5:c.2356-16_2356-10dup MANE Select NP_000539.2:n.2356-16_2356-10dup
NM_001370404.1:c.2356-16_2356-10dup NP_001357333.1:n.2356-16_2356-10dup
NM_001370405.1:c.2356-16_2356-10dup NP_001357334.1:n.2356-16_2356-10dup
NM_001077183.3:c.2356-16_2356-10dup NP_001070651.1:n.2356-16_2356-10dup
NM_001114382.3:c.2356-16_2356-10dup NP_001107854.1:n.2356-16_2356-10dup
NM_001318827.2:c.2245-16_2245-10dup NP_001305756.1:n.2245-16_2245-10dup
NM_001318829.2:c.2209-16_2209-10dup NP_001305758.1:n.2209-16_2209-10dup
NM_001318831.2:c.1756-16_1756-10dup NP_001305760.1:n.1756-16_1756-10dup
NM_001318832.2:c.2389-16_2389-10dup NP_001305761.1:n.2389-16_2389-10dup
NM_001363528.2:c.2356-16_2356-10dup NP_001350457.1:n.2356-16_2356-10dup
NM_021055.3:c.2356-16_2356-10dup NP_066399.2:n.2356-16_2356-10dup
Search 100 bp 5'
Search 100 bp 3'