Canonical Allele Identifier: CA620705066

Gene: TSC2

Linked Data

• dbSNP Id: rs1268518701
• gnomAD v2: 16-2138249-A-AC
• gnomAD v3: 16-2088248-A-AC
• gnomAD v4: 16-2088248-A-AC
• MyVariant Identifiers: chr16:g.2138249_2138250insC (hg19) ; chr16:g.2088248_2088249insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088248_2088249insC , CM000678.2:g.2088248_2088249insC	GRCh38
NC_000016.9:g.2138249_2138250insC , CM000678.1:g.2138249_2138250insC	GRCh37
NC_000016.8:g.2078250_2078251insC	NCBI36
NG_005895.1:g.43943_43944insC , LRG_487:g.43943_43944insC
NG_008617.1:g.54972_54973insG

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*3531_*3532insC	ENSP00000455997.2:n.*3531_*3532insC
ENST00000642206.2:c.5029_5030insC	ENSP00000495146.2:p.Ser1677ThrfsTer?
ENST00000642365.2:c.5179_5180insC	ENSP00000495459.2:p.Ser1727ThrfsTer?
ENST00000644417.2:c.*5695_*5696insC	ENSP00000493912.2:n.*5695_*5696insC
ENST00000646464.2:c.*7931_*7932insC	ENSP00000496610.2:n.*7931_*7932insC
ENST00000219476.9:c.5182_5183insC MANE Select	ENSP00000219476.3:p.Ser1728ThrfsTer?
ENST00000350773.9:c.5113_5114insC	ENSP00000344383.4:p.Ser1705ThrfsTer?
ENST00000401874.7:c.4981_4982insC	ENSP00000384468.2:p.Ser1661ThrfsTer?
ENST00000568454.6:c.5014_5015insC	ENSP00000454487.1:p.Ser1672ThrfsTer?
ENST00000569110.2:c.1405_1406insC
ENST00000569930.2:n.3064_3065insC
ENST00000642365.1:c.3836_3837insC
ENST00000642561.1:c.5041_5042insC	ENSP00000495099.1:p.Ser1681ThrfsTer?
ENST00000642791.1:n.779_780insC
ENST00000642797.1:c.4984_4985insC	ENSP00000493846.1:p.Ser1662ThrfsTer?
ENST00000642936.1:c.5050_5051insC	ENSP00000494514.1:p.Ser1684ThrfsTer?
ENST00000643088.1:c.4975_4976insC	ENSP00000494747.1:p.Ser1659ThrfsTer?
ENST00000643426.1:n.2830_2831insC
ENST00000643946.1:c.5107_5108insC	ENSP00000495927.1:p.Ser1703ThrfsTer?
ENST00000644043.1:c.5053_5054insC	ENSP00000496262.1:p.Ser1685ThrfsTer?
ENST00000644329.1:c.5068_5069insC	ENSP00000496611.1:p.Ser1690ThrfsTer?
ENST00000644335.1:c.4978_4979insC	ENSP00000496317.1:p.Ser1660ThrfsTer?
ENST00000644399.1:c.5103_5104insC
ENST00000645024.1:n.3266_3267insC
ENST00000646388.1:c.5176_5177insC	ENSP00000495921.1:p.Ser1726ThrfsTer?
ENST00000646634.1:n.3997_3998insC
ENST00000646674.1:n.2434_2435insC
ENST00000647042.1:n.2405_2406insC
ENST00000647180.1:n.2295_2296insC
ENST00000219476.7:c.5182_5183insC	ENSP00000219476.3:p.Ser1728ThrfsTer?
ENST00000350773.8:c.5113_5114insC	ENSP00000344383.4:p.Ser1705ThrfsTer?
ENST00000382538.10:c.4837_4838insC	ENSP00000371978.6:p.Ser1613ThrfsTer?
ENST00000401874.6:c.4981_4982insC	ENSP00000384468.2:p.Ser1661ThrfsTer?
ENST00000439117.6:c.*4349_*4350insC	ENSP00000406980.2:n.*4349_*4350insC
ENST00000439673.6:c.4873_4874insC	ENSP00000399232.2:p.Ser1625ThrfsTer?
ENST00000497886.5:n.2905_2906insC
ENST00000568454.5:c.5014_5015insC	ENSP00000454487.1:p.Ser1672ThrfsTer?
ENST00000569110.1:c.1364_1365insC
ENST00000569930.1:n.2297_2298insC
NM_000548.3:c.5182_5183insC , LRG_487t1:c.5182_5183insC	NP_000539.2:p.Ser1728ThrfsTer?
NM_001077183.1:c.4981_4982insC	NP_001070651.1:p.Ser1661ThrfsTer?
NM_001114382.1:c.5113_5114insC	NP_001107854.1:p.Ser1705ThrfsTer?
XM_005255529.3:c.5053_5054insC	XP_005255586.2:p.Ser1685ThrfsTer?
XM_005255531.3:c.4984_4985insC	XP_005255588.2:p.Ser1662ThrfsTer?
XM_011522636.1:c.5236_5237insC	XP_011520938.1:p.Ser1746ThrfsTer?
XM_011522637.1:c.5233_5234insC	XP_011520939.1:p.Ser1745ThrfsTer?
XM_011522638.1:c.5125_5126insC	XP_011520940.1:p.Ser1709ThrfsTer?
XM_011522639.1:c.5107_5108insC	XP_011520941.1:p.Ser1703ThrfsTer?
XM_011522640.1:c.5104_5105insC	XP_011520942.1:p.Ser1702ThrfsTer?
XM_011522641.1:c.4873_4874insC	XP_011520943.1:p.Ser1625ThrfsTer?
NM_000548.4:c.5182_5183insC	NP_000539.2:p.Ser1728ThrfsTer?
NM_001077183.2:c.4981_4982insC	NP_001070651.1:p.Ser1661ThrfsTer?
NM_001114382.2:c.5113_5114insC	NP_001107854.1:p.Ser1705ThrfsTer?
NM_001318827.1:c.4873_4874insC	NP_001305756.1:p.Ser1625ThrfsTer?
NM_001318829.1:c.4837_4838insC	NP_001305758.1:p.Ser1613ThrfsTer?
NM_001318831.1:c.4450_4451insC	NP_001305760.1:p.Ser1484ThrfsTer?
NM_001318832.1:c.5014_5015insC	NP_001305761.1:p.Ser1672ThrfsTer?
NM_001363528.1:c.4984_4985insC	NP_001350457.1:p.Ser1662ThrfsTer?
NM_021055.2:c.5053_5054insC	NP_066399.2:p.Ser1685ThrfsTer?
XM_005255531.4:c.4984_4985insC	XP_005255588.2:p.Ser1662ThrfsTer?
XM_011522636.2:c.5236_5237insC	XP_011520938.1:p.Ser1746ThrfsTer?
XM_011522637.2:c.5233_5234insC	XP_011520939.1:p.Ser1745ThrfsTer?
XM_011522638.2:c.5398_5399insC	XP_011520940.2:p.Ser1800ThrfsTer?
XM_011522639.2:c.5107_5108insC	XP_011520941.1:p.Ser1703ThrfsTer?
XM_011522640.2:c.5104_5105insC	XP_011520942.1:p.Ser1702ThrfsTer?
XM_017023615.1:c.5179_5180insC	XP_016879104.1:p.Ser1727ThrfsTer?
XM_017023616.1:c.5050_5051insC	XP_016879105.1:p.Ser1684ThrfsTer?
XM_017023617.1:c.5146_5147insC	XP_016879106.1:p.Ser1716ThrfsTer?
XM_017023618.1:c.3892_3893insC	XP_016879107.1:p.Ser1298ThrfsTer?
XM_024450413.1:c.5068_5069insC	XP_024306181.1:p.Ser1690ThrfsTer?
NM_000548.5:c.5182_5183insC MANE Select	NP_000539.2:p.Ser1728ThrfsTer?
NM_001370404.1:c.5050_5051insC	NP_001357333.1:p.Ser1684ThrfsTer?
NM_001370405.1:c.5041_5042insC	NP_001357334.1:p.Ser1681ThrfsTer?
NM_001077183.3:c.4981_4982insC	NP_001070651.1:p.Ser1661ThrfsTer?
NM_001114382.3:c.5113_5114insC	NP_001107854.1:p.Ser1705ThrfsTer?
NM_001318827.2:c.4873_4874insC	NP_001305756.1:p.Ser1625ThrfsTer?
NM_001318829.2:c.4837_4838insC	NP_001305758.1:p.Ser1613ThrfsTer?
NM_001318831.2:c.4450_4451insC	NP_001305760.1:p.Ser1484ThrfsTer?
NM_001318832.2:c.5014_5015insC	NP_001305761.1:p.Ser1672ThrfsTer?
NM_001363528.2:c.4984_4985insC	NP_001350457.1:p.Ser1662ThrfsTer?
NM_021055.3:c.5053_5054insC	NP_066399.2:p.Ser1685ThrfsTer?