Canonical Allele Identifier: CA973770587

Gene: TSC2

Linked Data

• gnomAD v3: 16-2088248-AGC-A
• gnomAD v4: 16-2088248-AGC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088249_2088250del , CM000678.2:g.2088249_2088250del	GRCh38
NC_000016.9:g.2138250_2138251del , CM000678.1:g.2138250_2138251del	GRCh37
NC_000016.8:g.2078251_2078252del	NCBI36
NG_005895.1:g.43944_43945del , LRG_487:g.43944_43945del
NG_008617.1:g.54971_54972del

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*3532_*3533del	ENSP00000455997.2:n.*3532_*3533del
ENST00000642206.2:c.5030_5031del	ENSP00000495146.2:p.Ser1677ThrfsTer?
ENST00000642365.2:c.5180_5181del	ENSP00000495459.2:p.Ser1727ThrfsTer?
ENST00000644417.2:c.*5696_*5697del	ENSP00000493912.2:n.*5696_*5697del
ENST00000646464.2:c.*7932_*7933del	ENSP00000496610.2:n.*7932_*7933del
ENST00000219476.9:c.5183_5184del MANE Select	ENSP00000219476.3:p.Ser1728ThrfsTer?
ENST00000350773.9:c.5114_5115del	ENSP00000344383.4:p.Ser1705ThrfsTer?
ENST00000401874.7:c.4982_4983del	ENSP00000384468.2:p.Ser1661ThrfsTer?
ENST00000568454.6:c.5015_5016del	ENSP00000454487.1:p.Ser1672ThrfsTer?
ENST00000569110.2:c.1406_1407del
ENST00000569930.2:n.3065_3066del
ENST00000642365.1:c.3837_3838del
ENST00000642561.1:c.5042_5043del	ENSP00000495099.1:p.Ser1681ThrfsTer?
ENST00000642791.1:n.780_781del
ENST00000642797.1:c.4985_4986del	ENSP00000493846.1:p.Ser1662ThrfsTer?
ENST00000642936.1:c.5051_5052del	ENSP00000494514.1:p.Ser1684ThrfsTer?
ENST00000643088.1:c.4976_4977del	ENSP00000494747.1:p.Ser1659ThrfsTer?
ENST00000643426.1:n.2831_2832del
ENST00000643946.1:c.5108_5109del	ENSP00000495927.1:p.Ser1703ThrfsTer?
ENST00000644043.1:c.5054_5055del	ENSP00000496262.1:p.Ser1685ThrfsTer?
ENST00000644329.1:c.5069_5070del	ENSP00000496611.1:p.Ser1690ThrfsTer?
ENST00000644335.1:c.4979_4980del	ENSP00000496317.1:p.Ser1660ThrfsTer?
ENST00000644399.1:c.5104_5105del
ENST00000645024.1:n.3267_3268del
ENST00000646388.1:c.5177_5178del	ENSP00000495921.1:p.Ser1726ThrfsTer?
ENST00000646634.1:n.3998_3999del
ENST00000646674.1:n.2435_2436del
ENST00000647042.1:n.2406_2407del
ENST00000647180.1:n.2296_2297del
ENST00000219476.7:c.5183_5184del	ENSP00000219476.3:p.Ser1728ThrfsTer?
ENST00000350773.8:c.5114_5115del	ENSP00000344383.4:p.Ser1705ThrfsTer?
ENST00000382538.10:c.4838_4839del	ENSP00000371978.6:p.Ser1613ThrfsTer?
ENST00000401874.6:c.4982_4983del	ENSP00000384468.2:p.Ser1661ThrfsTer?
ENST00000439117.6:c.*4350_*4351del	ENSP00000406980.2:n.*4350_*4351del
ENST00000439673.6:c.4874_4875del	ENSP00000399232.2:p.Ser1625ThrfsTer?
ENST00000497886.5:n.2906_2907del
ENST00000568454.5:c.5015_5016del	ENSP00000454487.1:p.Ser1672ThrfsTer?
ENST00000569110.1:c.1365_1366del
ENST00000569930.1:n.2298_2299del
NM_000548.3:c.5183_5184del , LRG_487t1:c.5183_5184del	NP_000539.2:p.Ser1728ThrfsTer?
NM_001077183.1:c.4982_4983del	NP_001070651.1:p.Ser1661ThrfsTer?
NM_001114382.1:c.5114_5115del	NP_001107854.1:p.Ser1705ThrfsTer?
XM_005255529.3:c.5054_5055del	XP_005255586.2:p.Ser1685ThrfsTer?
XM_005255531.3:c.4985_4986del	XP_005255588.2:p.Ser1662ThrfsTer?
XM_011522636.1:c.5237_5238del	XP_011520938.1:p.Ser1746ThrfsTer?
XM_011522637.1:c.5234_5235del	XP_011520939.1:p.Ser1745ThrfsTer?
XM_011522638.1:c.5126_5127del	XP_011520940.1:p.Ser1709ThrfsTer?
XM_011522639.1:c.5108_5109del	XP_011520941.1:p.Ser1703ThrfsTer?
XM_011522640.1:c.5105_5106del	XP_011520942.1:p.Ser1702ThrfsTer?
XM_011522641.1:c.4874_4875del	XP_011520943.1:p.Ser1625ThrfsTer?
NM_000548.4:c.5183_5184del	NP_000539.2:p.Ser1728ThrfsTer?
NM_001077183.2:c.4982_4983del	NP_001070651.1:p.Ser1661ThrfsTer?
NM_001114382.2:c.5114_5115del	NP_001107854.1:p.Ser1705ThrfsTer?
NM_001318827.1:c.4874_4875del	NP_001305756.1:p.Ser1625ThrfsTer?
NM_001318829.1:c.4838_4839del	NP_001305758.1:p.Ser1613ThrfsTer?
NM_001318831.1:c.4451_4452del	NP_001305760.1:p.Ser1484ThrfsTer?
NM_001318832.1:c.5015_5016del	NP_001305761.1:p.Ser1672ThrfsTer?
NM_001363528.1:c.4985_4986del	NP_001350457.1:p.Ser1662ThrfsTer?
NM_021055.2:c.5054_5055del	NP_066399.2:p.Ser1685ThrfsTer?
XM_005255531.4:c.4985_4986del	XP_005255588.2:p.Ser1662ThrfsTer?
XM_011522636.2:c.5237_5238del	XP_011520938.1:p.Ser1746ThrfsTer?
XM_011522637.2:c.5234_5235del	XP_011520939.1:p.Ser1745ThrfsTer?
XM_011522638.2:c.5399_5400del	XP_011520940.2:p.Ser1800ThrfsTer?
XM_011522639.2:c.5108_5109del	XP_011520941.1:p.Ser1703ThrfsTer?
XM_011522640.2:c.5105_5106del	XP_011520942.1:p.Ser1702ThrfsTer?
XM_017023615.1:c.5180_5181del	XP_016879104.1:p.Ser1727ThrfsTer?
XM_017023616.1:c.5051_5052del	XP_016879105.1:p.Ser1684ThrfsTer?
XM_017023617.1:c.5147_5148del	XP_016879106.1:p.Ser1716ThrfsTer?
XM_017023618.1:c.3893_3894del	XP_016879107.1:p.Ser1298ThrfsTer?
XM_024450413.1:c.5069_5070del	XP_024306181.1:p.Ser1690ThrfsTer?
NM_000548.5:c.5183_5184del MANE Select	NP_000539.2:p.Ser1728ThrfsTer?
NM_001370404.1:c.5051_5052del	NP_001357333.1:p.Ser1684ThrfsTer?
NM_001370405.1:c.5042_5043del	NP_001357334.1:p.Ser1681ThrfsTer?
NM_001077183.3:c.4982_4983del	NP_001070651.1:p.Ser1661ThrfsTer?
NM_001114382.3:c.5114_5115del	NP_001107854.1:p.Ser1705ThrfsTer?
NM_001318827.2:c.4874_4875del	NP_001305756.1:p.Ser1625ThrfsTer?
NM_001318829.2:c.4838_4839del	NP_001305758.1:p.Ser1613ThrfsTer?
NM_001318831.2:c.4451_4452del	NP_001305760.1:p.Ser1484ThrfsTer?
NM_001318832.2:c.5015_5016del	NP_001305761.1:p.Ser1672ThrfsTer?
NM_001363528.2:c.4985_4986del	NP_001350457.1:p.Ser1662ThrfsTer?
NM_021055.3:c.5054_5055del	NP_066399.2:p.Ser1685ThrfsTer?