Canonical Allele Identifier: CA2631118418

Gene: TSC2

Linked Data

• gnomAD v4: 16-2084328-G-GGCCCTCTGTGGACCTCTCCTTCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2084335_2084358dup , CM000678.2:g.2084335_2084358dup	GRCh38
NC_000016.9:g.2134336_2134359dup , CM000678.1:g.2134336_2134359dup	GRCh37
NC_000016.8:g.2074337_2074360dup	NCBI36
NG_005895.1:g.40030_40053dup , LRG_487:g.40030_40053dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*2462_*2485dup	ENSP00000455997.2:n.*2462_*2485dup
ENST00000642206.2:c.3960_3983dup	ENSP00000495146.2:p.Ser1328_Gln1329insVal...
ENST00000642365.2:c.4110_4133dup	ENSP00000495459.2:p.Ser1378_Gln1379insVal...
ENST00000644417.2:c.*4493_*4516dup	ENSP00000493912.2:n.*4493_*4516dup
ENST00000646464.2:c.*6862_*6885dup	ENSP00000496610.2:n.*6862_*6885dup
ENST00000219476.9:c.4113_4136dup MANE Select	ENSP00000219476.3:p.Ser1379_Gln1380insVal...
ENST00000350773.9:c.4044_4067dup	ENSP00000344383.4:p.Ser1356_Gln1357insVal...
ENST00000401874.7:c.3912_3935dup	ENSP00000384468.2:p.Ser1312_Gln1313insVal...
ENST00000568454.6:c.3945_3968dup	ENSP00000454487.1:p.Ser1323_Gln1324insVal...
ENST00000569110.2:c.349_372dup
ENST00000569930.2:n.1995_2018dup
ENST00000642365.1:c.2767_2790dup
ENST00000642561.1:c.3984_4007dup	ENSP00000495099.1:p.Ser1336_Gln1337insVal...
ENST00000642728.1:n.295_318dup
ENST00000642797.1:c.3915_3938dup	ENSP00000493846.1:p.Ser1313_Gln1314insVal...
ENST00000642936.1:c.3981_4004dup	ENSP00000494514.1:p.Ser1335_Gln1336insVal...
ENST00000643088.1:c.3912_3935dup	ENSP00000494747.1:p.Ser1312_Gln1313insVal...
ENST00000643177.1:n.127_150dup
ENST00000643426.1:n.1761_1784dup
ENST00000643946.1:c.4044_4067dup	ENSP00000495927.1:p.Ser1356_Gln1357insVal...
ENST00000644043.1:c.3984_4007dup	ENSP00000496262.1:p.Ser1336_Gln1337insVal...
ENST00000644329.1:c.3912_3935dup	ENSP00000496611.1:p.Ser1312_Gln1313insVal...
ENST00000644335.1:c.3915_3938dup	ENSP00000496317.1:p.Ser1313_Gln1314insVal...
ENST00000644399.1:c.4034_4057dup
ENST00000645024.1:n.2197_2220dup
ENST00000645186.1:c.356_379dup
ENST00000646388.1:c.4113_4136dup	ENSP00000495921.1:p.Ser1379_Gln1380insVal...
ENST00000646634.1:n.2928_2951dup
ENST00000646674.1:n.1365_1388dup
ENST00000647042.1:n.1336_1359dup
ENST00000647180.1:n.1226_1249dup
ENST00000219476.7:c.4113_4136dup	ENSP00000219476.3:p.Ser1379_Gln1380insVal...
ENST00000350773.8:c.4044_4067dup	ENSP00000344383.4:p.Ser1356_Gln1357insVal...
ENST00000382538.10:c.3768_3791dup	ENSP00000371978.6:p.Ser1264_Gln1265insVal...
ENST00000401874.6:c.3912_3935dup	ENSP00000384468.2:p.Ser1312_Gln1313insVal...
ENST00000439117.6:c.*3280_*3303dup	ENSP00000406980.2:n.*3280_*3303dup
ENST00000439673.6:c.3804_3827dup	ENSP00000399232.2:p.Ser1276_Gln1277insVal...
ENST00000497886.5:n.1871_1894dup
ENST00000568454.5:c.3945_3968dup	ENSP00000454487.1:p.Ser1323_Gln1324insVal...
ENST00000569110.1:c.295_318dup
ENST00000569930.1:n.1228_1251dup
NM_000548.3:c.4113_4136dup , LRG_487t1:c.4113_4136dup	NP_000539.2:p.Ser1379_Gln1380insValAspLeu...
NM_001077183.1:c.3912_3935dup	NP_001070651.1:p.Ser1312_Gln1313insValAsp...
NM_001114382.1:c.4044_4067dup	NP_001107854.1:p.Ser1356_Gln1357insValAsp...
XM_005255529.3:c.3984_4007dup	XP_005255586.2:p.Ser1336_Gln1337insValAsp...
XM_005255531.3:c.3915_3938dup	XP_005255588.2:p.Ser1313_Gln1314insValAsp...
XM_011522636.1:c.4167_4190dup	XP_011520938.1:p.Ser1397_Gln1398insValAsp...
XM_011522637.1:c.4164_4187dup	XP_011520939.1:p.Ser1396_Gln1397insValAsp...
XM_011522638.1:c.4056_4079dup	XP_011520940.1:p.Ser1360_Gln1361insValAsp...
XM_011522639.1:c.4038_4061dup	XP_011520941.1:p.Ser1354_Gln1355insValAsp...
XM_011522640.1:c.4035_4058dup	XP_011520942.1:p.Ser1353_Gln1354insValAsp...
XM_011522641.1:c.3804_3827dup	XP_011520943.1:p.Ser1276_Gln1277insValAsp...
NM_000548.4:c.4113_4136dup	NP_000539.2:p.Ser1379_Gln1380insValAspLeu...
NM_001077183.2:c.3912_3935dup	NP_001070651.1:p.Ser1312_Gln1313insValAsp...
NM_001114382.2:c.4044_4067dup	NP_001107854.1:p.Ser1356_Gln1357insValAsp...
NM_001318827.1:c.3804_3827dup	NP_001305756.1:p.Ser1276_Gln1277insValAsp...
NM_001318829.1:c.3768_3791dup	NP_001305758.1:p.Ser1264_Gln1265insValAsp...
NM_001318831.1:c.3381_3404dup	NP_001305760.1:p.Ser1135_Gln1136insValAsp...
NM_001318832.1:c.3945_3968dup	NP_001305761.1:p.Ser1323_Gln1324insValAsp...
NM_001363528.1:c.3915_3938dup	NP_001350457.1:p.Ser1313_Gln1314insValAsp...
NM_021055.2:c.3984_4007dup	NP_066399.2:p.Ser1336_Gln1337insValAspLeu...
XM_005255531.4:c.3915_3938dup	XP_005255588.2:p.Ser1313_Gln1314insValAsp...
XM_011522636.2:c.4167_4190dup	XP_011520938.1:p.Ser1397_Gln1398insValAsp...
XM_011522637.2:c.4164_4187dup	XP_011520939.1:p.Ser1396_Gln1397insValAsp...
XM_011522638.2:c.4329_4352dup	XP_011520940.2:p.Ser1451_Gln1452insValAsp...
XM_011522639.2:c.4038_4061dup	XP_011520941.1:p.Ser1354_Gln1355insValAsp...
XM_011522640.2:c.4035_4058dup	XP_011520942.1:p.Ser1353_Gln1354insValAsp...
XM_017023615.1:c.4110_4133dup	XP_016879104.1:p.Ser1378_Gln1379insValAsp...
XM_017023616.1:c.3981_4004dup	XP_016879105.1:p.Ser1335_Gln1336insValAsp...
XM_017023617.1:c.4077_4100dup	XP_016879106.1:p.Ser1367_Gln1368insValAsp...
XM_017023618.1:c.2823_2846dup	XP_016879107.1:p.Ser949_Gln950insValAspLe...
XM_024450413.1:c.3912_3935dup	XP_024306181.1:p.Ser1312_Gln1313insValAsp...
NM_000548.5:c.4113_4136dup MANE Select	NP_000539.2:p.Ser1379_Gln1380insValAspLeu...
NM_001370404.1:c.3981_4004dup	NP_001357333.1:p.Ser1335_Gln1336insValAsp...
NM_001370405.1:c.3984_4007dup	NP_001357334.1:p.Ser1336_Gln1337insValAsp...
NM_001077183.3:c.3912_3935dup	NP_001070651.1:p.Ser1312_Gln1313insValAsp...
NM_001114382.3:c.4044_4067dup	NP_001107854.1:p.Ser1356_Gln1357insValAsp...
NM_001318827.2:c.3804_3827dup	NP_001305756.1:p.Ser1276_Gln1277insValAsp...
NM_001318829.2:c.3768_3791dup	NP_001305758.1:p.Ser1264_Gln1265insValAsp...
NM_001318831.2:c.3381_3404dup	NP_001305760.1:p.Ser1135_Gln1136insValAsp...
NM_001318832.2:c.3945_3968dup	NP_001305761.1:p.Ser1323_Gln1324insValAsp...
NM_001363528.2:c.3915_3938dup	NP_001350457.1:p.Ser1313_Gln1314insValAsp...
NM_021055.3:c.3984_4007dup	NP_066399.2:p.Ser1336_Gln1337insValAspLeu...