Canonical Allele Identifier: CA1139664280

Gene: TSC2

Linked Data

• ClinVar Variation Id: 942713
• ClinVar RCV Id: RCV001212746
• dbSNP Id: rs2090496214

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2084357_2084358del , CM000678.2:g.2084357_2084358del	GRCh38
NC_000016.9:g.2134358_2134359del , CM000678.1:g.2134358_2134359del	GRCh37
NC_000016.8:g.2074359_2074360del	NCBI36
NG_005895.1:g.40052_40053del , LRG_487:g.40052_40053del

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*2484_*2485del	ENSP00000455997.2:n.*2484_*2485del
ENST00000642206.2:c.3982_3983del	ENSP00000495146.2:p.Ser1328AlafsTer?
ENST00000642365.2:c.4132_4133del	ENSP00000495459.2:p.Ser1378AlafsTer?
ENST00000644417.2:c.*4515_*4516del	ENSP00000493912.2:n.*4515_*4516del
ENST00000646464.2:c.*6884_*6885del	ENSP00000496610.2:n.*6884_*6885del
ENST00000219476.9:c.4135_4136del MANE Select	ENSP00000219476.3:p.Ser1379AlafsTer?
ENST00000350773.9:c.4066_4067del	ENSP00000344383.4:p.Ser1356AlafsTer?
ENST00000401874.7:c.3934_3935del	ENSP00000384468.2:p.Ser1312AlafsTer?
ENST00000568454.6:c.3967_3968del	ENSP00000454487.1:p.Ser1323AlafsTer?
ENST00000569110.2:c.371_372del
ENST00000569930.2:n.2017_2018del
ENST00000642365.1:c.2789_2790del
ENST00000642561.1:c.4006_4007del	ENSP00000495099.1:p.Ser1336AlafsTer?
ENST00000642728.1:n.317_318del
ENST00000642797.1:c.3937_3938del	ENSP00000493846.1:p.Ser1313AlafsTer?
ENST00000642936.1:c.4003_4004del	ENSP00000494514.1:p.Ser1335AlafsTer?
ENST00000643088.1:c.3934_3935del	ENSP00000494747.1:p.Ser1312AlafsTer?
ENST00000643177.1:n.149_150del
ENST00000643426.1:n.1783_1784del
ENST00000643946.1:c.4066_4067del	ENSP00000495927.1:p.Ser1356AlafsTer?
ENST00000644043.1:c.4006_4007del	ENSP00000496262.1:p.Ser1336AlafsTer?
ENST00000644329.1:c.3934_3935del	ENSP00000496611.1:p.Ser1312AlafsTer?
ENST00000644335.1:c.3937_3938del	ENSP00000496317.1:p.Ser1313AlafsTer?
ENST00000644399.1:c.4056_4057del
ENST00000645024.1:n.2219_2220del
ENST00000645186.1:c.378_379del
ENST00000646388.1:c.4135_4136del	ENSP00000495921.1:p.Ser1379AlafsTer?
ENST00000646634.1:n.2950_2951del
ENST00000646674.1:n.1387_1388del
ENST00000647042.1:n.1358_1359del
ENST00000647180.1:n.1248_1249del
ENST00000219476.7:c.4135_4136del	ENSP00000219476.3:p.Ser1379AlafsTer?
ENST00000350773.8:c.4066_4067del	ENSP00000344383.4:p.Ser1356AlafsTer?
ENST00000382538.10:c.3790_3791del	ENSP00000371978.6:p.Ser1264AlafsTer?
ENST00000401874.6:c.3934_3935del	ENSP00000384468.2:p.Ser1312AlafsTer?
ENST00000439117.6:c.*3302_*3303del	ENSP00000406980.2:n.*3302_*3303del
ENST00000439673.6:c.3826_3827del	ENSP00000399232.2:p.Ser1276AlafsTer?
ENST00000497886.5:n.1893_1894del
ENST00000568454.5:c.3967_3968del	ENSP00000454487.1:p.Ser1323AlafsTer?
ENST00000569110.1:c.317_318del
ENST00000569930.1:n.1250_1251del
NM_000548.3:c.4135_4136del , LRG_487t1:c.4135_4136del	NP_000539.2:p.Ser1379AlafsTer?
NM_001077183.1:c.3934_3935del	NP_001070651.1:p.Ser1312AlafsTer?
NM_001114382.1:c.4066_4067del	NP_001107854.1:p.Ser1356AlafsTer?
XM_005255529.3:c.4006_4007del	XP_005255586.2:p.Ser1336AlafsTer?
XM_005255531.3:c.3937_3938del	XP_005255588.2:p.Ser1313AlafsTer?
XM_011522636.1:c.4189_4190del	XP_011520938.1:p.Ser1397AlafsTer?
XM_011522637.1:c.4186_4187del	XP_011520939.1:p.Ser1396AlafsTer?
XM_011522638.1:c.4078_4079del	XP_011520940.1:p.Ser1360AlafsTer?
XM_011522639.1:c.4060_4061del	XP_011520941.1:p.Ser1354AlafsTer?
XM_011522640.1:c.4057_4058del	XP_011520942.1:p.Ser1353AlafsTer?
XM_011522641.1:c.3826_3827del	XP_011520943.1:p.Ser1276AlafsTer?
NM_000548.4:c.4135_4136del	NP_000539.2:p.Ser1379AlafsTer?
NM_001077183.2:c.3934_3935del	NP_001070651.1:p.Ser1312AlafsTer?
NM_001114382.2:c.4066_4067del	NP_001107854.1:p.Ser1356AlafsTer?
NM_001318827.1:c.3826_3827del	NP_001305756.1:p.Ser1276AlafsTer?
NM_001318829.1:c.3790_3791del	NP_001305758.1:p.Ser1264AlafsTer?
NM_001318831.1:c.3403_3404del	NP_001305760.1:p.Ser1135AlafsTer?
NM_001318832.1:c.3967_3968del	NP_001305761.1:p.Ser1323AlafsTer?
NM_001363528.1:c.3937_3938del	NP_001350457.1:p.Ser1313AlafsTer?
NM_021055.2:c.4006_4007del	NP_066399.2:p.Ser1336AlafsTer?
XM_005255531.4:c.3937_3938del	XP_005255588.2:p.Ser1313AlafsTer?
XM_011522636.2:c.4189_4190del	XP_011520938.1:p.Ser1397AlafsTer?
XM_011522637.2:c.4186_4187del	XP_011520939.1:p.Ser1396AlafsTer?
XM_011522638.2:c.4351_4352del	XP_011520940.2:p.Ser1451AlafsTer?
XM_011522639.2:c.4060_4061del	XP_011520941.1:p.Ser1354AlafsTer?
XM_011522640.2:c.4057_4058del	XP_011520942.1:p.Ser1353AlafsTer?
XM_017023615.1:c.4132_4133del	XP_016879104.1:p.Ser1378AlafsTer?
XM_017023616.1:c.4003_4004del	XP_016879105.1:p.Ser1335AlafsTer?
XM_017023617.1:c.4099_4100del	XP_016879106.1:p.Ser1367AlafsTer?
XM_017023618.1:c.2845_2846del	XP_016879107.1:p.Ser949AlafsTer?
XM_024450413.1:c.3934_3935del	XP_024306181.1:p.Ser1312AlafsTer?
NM_000548.5:c.4135_4136del MANE Select	NP_000539.2:p.Ser1379AlafsTer?
NM_001370404.1:c.4003_4004del	NP_001357333.1:p.Ser1335AlafsTer?
NM_001370405.1:c.4006_4007del	NP_001357334.1:p.Ser1336AlafsTer?
NM_001077183.3:c.3934_3935del	NP_001070651.1:p.Ser1312AlafsTer?
NM_001114382.3:c.4066_4067del	NP_001107854.1:p.Ser1356AlafsTer?
NM_001318827.2:c.3826_3827del	NP_001305756.1:p.Ser1276AlafsTer?
NM_001318829.2:c.3790_3791del	NP_001305758.1:p.Ser1264AlafsTer?
NM_001318831.2:c.3403_3404del	NP_001305760.1:p.Ser1135AlafsTer?
NM_001318832.2:c.3967_3968del	NP_001305761.1:p.Ser1323AlafsTer?
NM_001363528.2:c.3937_3938del	NP_001350457.1:p.Ser1313AlafsTer?
NM_021055.3:c.4006_4007del	NP_066399.2:p.Ser1336AlafsTer?