Canonical Allele Identifier: CA2580612724

Gene: TSC2

Linked Data

• ClinVar Variation Id: 1501502
• ClinVar RCV Id: RCV002017517
• dbSNP Id: rs2151640273
• gnomAD v4: 16-2088518-GCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088521_2088522del , CM000678.2:g.2088521_2088522del	GRCh38
NC_000016.9:g.2138522_2138523del , CM000678.1:g.2138522_2138523del	GRCh37
NC_000016.8:g.2078523_2078524del	NCBI36
NG_005895.1:g.44216_44217del , LRG_487:g.44216_44217del
NG_008617.1:g.54701_54702del

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*3684_*3685del	ENSP00000455997.2:n.*3684_*3685del
ENST00000642206.2:c.5182_5183del	ENSP00000495146.2:p.Gln1728AspfsTer10
ENST00000642365.2:c.5332_5333del	ENSP00000495459.2:p.Gln1778AspfsTer10
ENST00000644417.2:c.*5848_*5849del	ENSP00000493912.2:n.*5848_*5849del
ENST00000646464.2:c.*8084_*8085del	ENSP00000496610.2:n.*8084_*8085del
ENST00000219476.9:c.5335_5336del MANE Select	ENSP00000219476.3:p.Gln1779AspfsTer10
ENST00000350773.9:c.5266_5267del	ENSP00000344383.4:p.Gln1756AspfsTer10
ENST00000401874.7:c.5134_5135del	ENSP00000384468.2:p.Gln1712AspfsTer10
ENST00000568454.6:c.5167_5168del	ENSP00000454487.1:p.Gln1723AspfsTer10
ENST00000569110.2:c.1558_1559del
ENST00000569930.2:n.3217_3218del
ENST00000642365.1:c.3989_3990del
ENST00000642561.1:c.5194_5195del	ENSP00000495099.1:p.Gln1732AspfsTer10
ENST00000642791.1:n.932_933del
ENST00000642797.1:c.5137_5138del	ENSP00000493846.1:p.Gln1713AspfsTer10
ENST00000642936.1:c.5203_5204del	ENSP00000494514.1:p.Gln1735AspfsTer10
ENST00000643088.1:c.5128_5129del	ENSP00000494747.1:p.Gln1710AspfsTer10
ENST00000643426.1:n.2983_2984del
ENST00000643946.1:c.5260_5261del	ENSP00000495927.1:p.Gln1754AspfsTer10
ENST00000644043.1:c.5206_5207del	ENSP00000496262.1:p.Gln1736AspfsTer10
ENST00000644329.1:c.5221_5222del	ENSP00000496611.1:p.Gln1741AspfsTer10
ENST00000644335.1:c.5131_5132del	ENSP00000496317.1:p.Gln1711AspfsTer10
ENST00000644399.1:c.5256_5257del
ENST00000645024.1:n.3419_3420del
ENST00000646388.1:c.5329_5330del	ENSP00000495921.1:p.Gln1777AspfsTer10
ENST00000646634.1:n.4150_4151del
ENST00000646674.1:n.2587_2588del
ENST00000647042.1:n.2558_2559del
ENST00000647180.1:n.2448_2449del
ENST00000219476.7:c.5335_5336del	ENSP00000219476.3:p.Gln1779AspfsTer10
ENST00000350773.8:c.5266_5267del	ENSP00000344383.4:p.Gln1756AspfsTer10
ENST00000382538.10:c.4990_4991del	ENSP00000371978.6:p.Gln1664AspfsTer10
ENST00000401874.6:c.5134_5135del	ENSP00000384468.2:p.Gln1712AspfsTer10
ENST00000439117.6:c.*4502_*4503del	ENSP00000406980.2:n.*4502_*4503del
ENST00000439673.6:c.5026_5027del	ENSP00000399232.2:p.Gln1676AspfsTer10
ENST00000497886.5:n.3058_3059del
ENST00000568454.5:c.5167_5168del	ENSP00000454487.1:p.Gln1723AspfsTer10
ENST00000569110.1:c.1517_1518del
ENST00000569930.1:n.2450_2451del
NM_000548.3:c.5335_5336del , LRG_487t1:c.5335_5336del	NP_000539.2:p.Gln1779AspfsTer10
NM_001077183.1:c.5134_5135del	NP_001070651.1:p.Gln1712AspfsTer10
NM_001114382.1:c.5266_5267del	NP_001107854.1:p.Gln1756AspfsTer10
XM_005255529.3:c.5206_5207del	XP_005255586.2:p.Gln1736AspfsTer10
XM_005255531.3:c.5137_5138del	XP_005255588.2:p.Gln1713AspfsTer10
XM_011522636.1:c.5389_5390del	XP_011520938.1:p.Gln1797AspfsTer10
XM_011522637.1:c.5386_5387del	XP_011520939.1:p.Gln1796AspfsTer10
XM_011522638.1:c.5278_5279del	XP_011520940.1:p.Gln1760AspfsTer10
XM_011522639.1:c.5260_5261del	XP_011520941.1:p.Gln1754AspfsTer10
XM_011522640.1:c.5257_5258del	XP_011520942.1:p.Gln1753AspfsTer10
XM_011522641.1:c.5026_5027del	XP_011520943.1:p.Gln1676AspfsTer10
NM_000548.4:c.5335_5336del	NP_000539.2:p.Gln1779AspfsTer10
NM_001077183.2:c.5134_5135del	NP_001070651.1:p.Gln1712AspfsTer10
NM_001114382.2:c.5266_5267del	NP_001107854.1:p.Gln1756AspfsTer10
NM_001318827.1:c.5026_5027del	NP_001305756.1:p.Gln1676AspfsTer10
NM_001318829.1:c.4990_4991del	NP_001305758.1:p.Gln1664AspfsTer10
NM_001318831.1:c.4603_4604del	NP_001305760.1:p.Gln1535AspfsTer10
NM_001318832.1:c.5167_5168del	NP_001305761.1:p.Gln1723AspfsTer10
NM_001363528.1:c.5137_5138del	NP_001350457.1:p.Gln1713AspfsTer10
NM_021055.2:c.5206_5207del	NP_066399.2:p.Gln1736AspfsTer10
XM_005255531.4:c.5137_5138del	XP_005255588.2:p.Gln1713AspfsTer10
XM_011522636.2:c.5389_5390del	XP_011520938.1:p.Gln1797AspfsTer10
XM_011522637.2:c.5386_5387del	XP_011520939.1:p.Gln1796AspfsTer10
XM_011522638.2:c.5551_5552del	XP_011520940.2:p.Gln1851AspfsTer10
XM_011522639.2:c.5260_5261del	XP_011520941.1:p.Gln1754AspfsTer10
XM_011522640.2:c.5257_5258del	XP_011520942.1:p.Gln1753AspfsTer10
XM_017023615.1:c.5332_5333del	XP_016879104.1:p.Gln1778AspfsTer10
XM_017023616.1:c.5203_5204del	XP_016879105.1:p.Gln1735AspfsTer10
XM_017023617.1:c.5299_5300del	XP_016879106.1:p.Gln1767AspfsTer10
XM_017023618.1:c.4045_4046del	XP_016879107.1:p.Gln1349AspfsTer10
XM_024450413.1:c.5221_5222del	XP_024306181.1:p.Gln1741AspfsTer10
NM_000548.5:c.5335_5336del MANE Select	NP_000539.2:p.Gln1779AspfsTer10
NM_001370404.1:c.5203_5204del	NP_001357333.1:p.Gln1735AspfsTer10
NM_001370405.1:c.5194_5195del	NP_001357334.1:p.Gln1732AspfsTer10
NM_001077183.3:c.5134_5135del	NP_001070651.1:p.Gln1712AspfsTer10
NM_001114382.3:c.5266_5267del	NP_001107854.1:p.Gln1756AspfsTer10
NM_001318827.2:c.5026_5027del	NP_001305756.1:p.Gln1676AspfsTer10
NM_001318829.2:c.4990_4991del	NP_001305758.1:p.Gln1664AspfsTer10
NM_001318831.2:c.4603_4604del	NP_001305760.1:p.Gln1535AspfsTer10
NM_001318832.2:c.5167_5168del	NP_001305761.1:p.Gln1723AspfsTer10
NM_001363528.2:c.5137_5138del	NP_001350457.1:p.Gln1713AspfsTer10
NM_021055.3:c.5206_5207del	NP_066399.2:p.Gln1736AspfsTer10