Canonical Allele Identifier: CA915946265

Gene: TSC2

Linked Data

• ClinVar Variation Id: 825544
• ClinVar RCV Id: RCV001023718 ; RCV001550915 ; RCV001797811
• dbSNP Id: rs1596460422

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088266_2088268delinsAAC , CM000678.2:g.2088266_2088268delinsAAC	GRCh38
NC_000016.9:g.2138267_2138269delinsAAC , CM000678.1:g.2138267_2138269delinsAAC	GRCh37
NC_000016.8:g.2078268_2078270delinsAAC	NCBI36
NG_005895.1:g.43961_43963delinsAAC , LRG_487:g.43961_43963delinsAAC
NG_008617.1:g.54953_54955delinsGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3549_*3551delinsAAC	ENSP00000455997.2:n.*3549_*3551delinsAAC
ENST00000642206.2:c.5047_5049delinsAAC	ENSP00000495146.2:p.Asp1683Asn
ENST00000642365.2:c.5197_5199delinsAAC	ENSP00000495459.2:p.Asp1733Asn
ENST00000644417.2:c.*5713_*5715delinsAAC	ENSP00000493912.2:n.*5713_*5715delinsAAC
ENST00000646464.2:c.*7949_*7951delinsAAC	ENSP00000496610.2:n.*7949_*7951delinsAAC
ENST00000219476.9:c.5200_5202delinsAAC MANE Select	ENSP00000219476.3:p.Asp1734Asn
ENST00000350773.9:c.5131_5133delinsAAC	ENSP00000344383.4:p.Asp1711Asn
ENST00000401874.7:c.4999_5001delinsAAC	ENSP00000384468.2:p.Asp1667Asn
ENST00000568454.6:c.5032_5034delinsAAC	ENSP00000454487.1:p.Asp1678Asn
ENST00000569110.2:c.1423_1425delinsAAC
ENST00000569930.2:n.3082_3084delinsAAC
ENST00000642365.1:c.3854_3856delinsAAC
ENST00000642561.1:c.5059_5061delinsAAC	ENSP00000495099.1:p.Asp1687Asn
ENST00000642791.1:n.797_799delinsAAC
ENST00000642797.1:c.5002_5004delinsAAC	ENSP00000493846.1:p.Asp1668Asn
ENST00000642936.1:c.5068_5070delinsAAC	ENSP00000494514.1:p.Asp1690Asn
ENST00000643088.1:c.4993_4995delinsAAC	ENSP00000494747.1:p.Asp1665Asn
ENST00000643426.1:n.2848_2850delinsAAC
ENST00000643946.1:c.5125_5127delinsAAC	ENSP00000495927.1:p.Asp1709Asn
ENST00000644043.1:c.5071_5073delinsAAC	ENSP00000496262.1:p.Asp1691Asn
ENST00000644329.1:c.5086_5088delinsAAC	ENSP00000496611.1:p.Asp1696Asn
ENST00000644335.1:c.4996_4998delinsAAC	ENSP00000496317.1:p.Asp1666Asn
ENST00000644399.1:c.5121_5123delinsAAC
ENST00000645024.1:n.3284_3286delinsAAC
ENST00000646388.1:c.5194_5196delinsAAC	ENSP00000495921.1:p.Asp1732Asn
ENST00000646634.1:n.4015_4017delinsAAC
ENST00000646674.1:n.2452_2454delinsAAC
ENST00000647042.1:n.2423_2425delinsAAC
ENST00000647180.1:n.2313_2315delinsAAC
ENST00000219476.7:c.5200_5202delinsAAC	ENSP00000219476.3:p.Asp1734Asn
ENST00000350773.8:c.5131_5133delinsAAC	ENSP00000344383.4:p.Asp1711Asn
ENST00000382538.10:c.4855_4857delinsAAC	ENSP00000371978.6:p.Asp1619Asn
ENST00000401874.6:c.4999_5001delinsAAC	ENSP00000384468.2:p.Asp1667Asn
ENST00000439117.6:c.*4367_*4369delinsAAC	ENSP00000406980.2:n.*4367_*4369delinsAAC
ENST00000439673.6:c.4891_4893delinsAAC	ENSP00000399232.2:p.Asp1631Asn
ENST00000497886.5:n.2923_2925delinsAAC
ENST00000568454.5:c.5032_5034delinsAAC	ENSP00000454487.1:p.Asp1678Asn
ENST00000569110.1:c.1382_1384delinsAAC
ENST00000569930.1:n.2315_2317delinsAAC
NM_000548.3:c.5200_5202delinsAAC , LRG_487t1:c.5200_5202delinsAAC	NP_000539.2:p.Asp1734Asn
NM_001077183.1:c.4999_5001delinsAAC	NP_001070651.1:p.Asp1667Asn
NM_001114382.1:c.5131_5133delinsAAC	NP_001107854.1:p.Asp1711Asn
XM_005255529.3:c.5071_5073delinsAAC	XP_005255586.2:p.Asp1691Asn
XM_005255531.3:c.5002_5004delinsAAC	XP_005255588.2:p.Asp1668Asn
XM_011522636.1:c.5254_5256delinsAAC	XP_011520938.1:p.Asp1752Asn
XM_011522637.1:c.5251_5253delinsAAC	XP_011520939.1:p.Asp1751Asn
XM_011522638.1:c.5143_5145delinsAAC	XP_011520940.1:p.Asp1715Asn
XM_011522639.1:c.5125_5127delinsAAC	XP_011520941.1:p.Asp1709Asn
XM_011522640.1:c.5122_5124delinsAAC	XP_011520942.1:p.Asp1708Asn
XM_011522641.1:c.4891_4893delinsAAC	XP_011520943.1:p.Asp1631Asn
NM_000548.4:c.5200_5202delinsAAC	NP_000539.2:p.Asp1734Asn
NM_001077183.2:c.4999_5001delinsAAC	NP_001070651.1:p.Asp1667Asn
NM_001114382.2:c.5131_5133delinsAAC	NP_001107854.1:p.Asp1711Asn
NM_001318827.1:c.4891_4893delinsAAC	NP_001305756.1:p.Asp1631Asn
NM_001318829.1:c.4855_4857delinsAAC	NP_001305758.1:p.Asp1619Asn
NM_001318831.1:c.4468_4470delinsAAC	NP_001305760.1:p.Asp1490Asn
NM_001318832.1:c.5032_5034delinsAAC	NP_001305761.1:p.Asp1678Asn
NM_001363528.1:c.5002_5004delinsAAC	NP_001350457.1:p.Asp1668Asn
NM_021055.2:c.5071_5073delinsAAC	NP_066399.2:p.Asp1691Asn
XM_005255531.4:c.5002_5004delinsAAC	XP_005255588.2:p.Asp1668Asn
XM_011522636.2:c.5254_5256delinsAAC	XP_011520938.1:p.Asp1752Asn
XM_011522637.2:c.5251_5253delinsAAC	XP_011520939.1:p.Asp1751Asn
XM_011522638.2:c.5416_5418delinsAAC	XP_011520940.2:p.Asp1806Asn
XM_011522639.2:c.5125_5127delinsAAC	XP_011520941.1:p.Asp1709Asn
XM_011522640.2:c.5122_5124delinsAAC	XP_011520942.1:p.Asp1708Asn
XM_017023615.1:c.5197_5199delinsAAC	XP_016879104.1:p.Asp1733Asn
XM_017023616.1:c.5068_5070delinsAAC	XP_016879105.1:p.Asp1690Asn
XM_017023617.1:c.5164_5166delinsAAC	XP_016879106.1:p.Asp1722Asn
XM_017023618.1:c.3910_3912delinsAAC	XP_016879107.1:p.Asp1304Asn
XM_024450413.1:c.5086_5088delinsAAC	XP_024306181.1:p.Asp1696Asn
NM_000548.5:c.5200_5202delinsAAC MANE Select	NP_000539.2:p.Asp1734Asn
NM_001370404.1:c.5068_5070delinsAAC	NP_001357333.1:p.Asp1690Asn
NM_001370405.1:c.5059_5061delinsAAC	NP_001357334.1:p.Asp1687Asn
NM_001077183.3:c.4999_5001delinsAAC	NP_001070651.1:p.Asp1667Asn
NM_001114382.3:c.5131_5133delinsAAC	NP_001107854.1:p.Asp1711Asn
NM_001318827.2:c.4891_4893delinsAAC	NP_001305756.1:p.Asp1631Asn
NM_001318829.2:c.4855_4857delinsAAC	NP_001305758.1:p.Asp1619Asn
NM_001318831.2:c.4468_4470delinsAAC	NP_001305760.1:p.Asp1490Asn
NM_001318832.2:c.5032_5034delinsAAC	NP_001305761.1:p.Asp1678Asn
NM_001363528.2:c.5002_5004delinsAAC	NP_001350457.1:p.Asp1668Asn
NM_021055.3:c.5071_5073delinsAAC	NP_066399.2:p.Asp1691Asn