Canonical Allele Identifier: CA022250

Gene: TSC2

Linked Data

• ClinVar Variation Id: 49414
• ClinVar RCV Id: RCV000042674 ; RCV003482234
• dbSNP Id: rs137854002
• MyVariant Identifiers: chr16:g.2138300_2138304del (hg19) ; chr16:g.2088299_2088303del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088300_2088304del , CM000678.2:g.2088300_2088304del	GRCh38
NC_000016.9:g.2138301_2138305del , CM000678.1:g.2138301_2138305del	GRCh37
NC_000016.8:g.2078302_2078306del	NCBI36
NG_005895.1:g.43995_43999del , LRG_487:g.43995_43999del
NG_008617.1:g.54918_54922del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3583_*3587del	ENSP00000455997.2:n.*3583_*3587del
ENST00000642206.2:c.5081_5085del	ENSP00000495146.2:p.Arg1694HisfsTer28
ENST00000642365.2:c.5231_5235del	ENSP00000495459.2:p.Arg1744HisfsTer28
ENST00000644417.2:c.*5747_*5751del	ENSP00000493912.2:n.*5747_*5751del
ENST00000646464.2:c.*7983_*7987del	ENSP00000496610.2:n.*7983_*7987del
ENST00000219476.9:c.5234_5238del MANE Select	ENSP00000219476.3:p.Arg1745HisfsTer28
ENST00000350773.9:c.5165_5169del	ENSP00000344383.4:p.Arg1722HisfsTer28
ENST00000401874.7:c.5033_5037del	ENSP00000384468.2:p.Arg1678HisfsTer28
ENST00000568454.6:c.5066_5070del	ENSP00000454487.1:p.Arg1689HisfsTer28
ENST00000569110.2:c.1457_1461del
ENST00000569930.2:n.3116_3120del
ENST00000642365.1:c.3888_3892del
ENST00000642561.1:c.5093_5097del	ENSP00000495099.1:p.Arg1698HisfsTer28
ENST00000642791.1:n.831_835del
ENST00000642797.1:c.5036_5040del	ENSP00000493846.1:p.Arg1679HisfsTer28
ENST00000642936.1:c.5102_5106del	ENSP00000494514.1:p.Arg1701HisfsTer28
ENST00000643088.1:c.5027_5031del	ENSP00000494747.1:p.Arg1676HisfsTer28
ENST00000643426.1:n.2882_2886del
ENST00000643946.1:c.5159_5163del	ENSP00000495927.1:p.Arg1720HisfsTer28
ENST00000644043.1:c.5105_5109del	ENSP00000496262.1:p.Arg1702HisfsTer28
ENST00000644329.1:c.5120_5124del	ENSP00000496611.1:p.Arg1707HisfsTer28
ENST00000644335.1:c.5030_5034del	ENSP00000496317.1:p.Arg1677HisfsTer28
ENST00000644399.1:c.5155_5159del
ENST00000645024.1:n.3318_3322del
ENST00000646388.1:c.5228_5232del	ENSP00000495921.1:p.Arg1743HisfsTer28
ENST00000646634.1:n.4049_4053del
ENST00000646674.1:n.2486_2490del
ENST00000647042.1:n.2457_2461del
ENST00000647180.1:n.2347_2351del
ENST00000219476.7:c.5234_5238del	ENSP00000219476.3:p.Arg1745HisfsTer28
ENST00000350773.8:c.5165_5169del	ENSP00000344383.4:p.Arg1722HisfsTer28
ENST00000382538.10:c.4889_4893del	ENSP00000371978.6:p.Arg1630HisfsTer28
ENST00000401874.6:c.5033_5037del	ENSP00000384468.2:p.Arg1678HisfsTer28
ENST00000439117.6:c.*4401_*4405del	ENSP00000406980.2:n.*4401_*4405del
ENST00000439673.6:c.4925_4929del	ENSP00000399232.2:p.Arg1642HisfsTer28
ENST00000497886.5:n.2957_2961del
ENST00000568454.5:c.5066_5070del	ENSP00000454487.1:p.Arg1689HisfsTer28
ENST00000569110.1:c.1416_1420del
ENST00000569930.1:n.2349_2353del
NM_000548.3:c.5234_5238del , LRG_487t1:c.5234_5238del	NP_000539.2:p.Arg1745HisfsTer28
NM_001077183.1:c.5033_5037del	NP_001070651.1:p.Arg1678HisfsTer28
NM_001114382.1:c.5165_5169del	NP_001107854.1:p.Arg1722HisfsTer28
XM_005255529.3:c.5105_5109del	XP_005255586.2:p.Arg1702HisfsTer28
XM_005255531.3:c.5036_5040del	XP_005255588.2:p.Arg1679HisfsTer28
XM_011522636.1:c.5288_5292del	XP_011520938.1:p.Arg1763HisfsTer28
XM_011522637.1:c.5285_5289del	XP_011520939.1:p.Arg1762HisfsTer28
XM_011522638.1:c.5177_5181del	XP_011520940.1:p.Arg1726HisfsTer28
XM_011522639.1:c.5159_5163del	XP_011520941.1:p.Arg1720HisfsTer28
XM_011522640.1:c.5156_5160del	XP_011520942.1:p.Arg1719HisfsTer28
XM_011522641.1:c.4925_4929del	XP_011520943.1:p.Arg1642HisfsTer28
NM_000548.4:c.5234_5238del	NP_000539.2:p.Arg1745HisfsTer28
NM_001077183.2:c.5033_5037del	NP_001070651.1:p.Arg1678HisfsTer28
NM_001114382.2:c.5165_5169del	NP_001107854.1:p.Arg1722HisfsTer28
NM_001318827.1:c.4925_4929del	NP_001305756.1:p.Arg1642HisfsTer28
NM_001318829.1:c.4889_4893del	NP_001305758.1:p.Arg1630HisfsTer28
NM_001318831.1:c.4502_4506del	NP_001305760.1:p.Arg1501HisfsTer28
NM_001318832.1:c.5066_5070del	NP_001305761.1:p.Arg1689HisfsTer28
NM_001363528.1:c.5036_5040del	NP_001350457.1:p.Arg1679HisfsTer28
NM_021055.2:c.5105_5109del	NP_066399.2:p.Arg1702HisfsTer28
XM_005255531.4:c.5036_5040del	XP_005255588.2:p.Arg1679HisfsTer28
XM_011522636.2:c.5288_5292del	XP_011520938.1:p.Arg1763HisfsTer28
XM_011522637.2:c.5285_5289del	XP_011520939.1:p.Arg1762HisfsTer28
XM_011522638.2:c.5450_5454del	XP_011520940.2:p.Arg1817HisfsTer28
XM_011522639.2:c.5159_5163del	XP_011520941.1:p.Arg1720HisfsTer28
XM_011522640.2:c.5156_5160del	XP_011520942.1:p.Arg1719HisfsTer28
XM_017023615.1:c.5231_5235del	XP_016879104.1:p.Arg1744HisfsTer28
XM_017023616.1:c.5102_5106del	XP_016879105.1:p.Arg1701HisfsTer28
XM_017023617.1:c.5198_5202del	XP_016879106.1:p.Arg1733HisfsTer28
XM_017023618.1:c.3944_3948del	XP_016879107.1:p.Arg1315HisfsTer28
XM_024450413.1:c.5120_5124del	XP_024306181.1:p.Arg1707HisfsTer28
NM_000548.5:c.5234_5238del MANE Select	NP_000539.2:p.Arg1745HisfsTer28
NM_001370404.1:c.5102_5106del	NP_001357333.1:p.Arg1701HisfsTer28
NM_001370405.1:c.5093_5097del	NP_001357334.1:p.Arg1698HisfsTer28
NM_001077183.3:c.5033_5037del	NP_001070651.1:p.Arg1678HisfsTer28
NM_001114382.3:c.5165_5169del	NP_001107854.1:p.Arg1722HisfsTer28
NM_001318827.2:c.4925_4929del	NP_001305756.1:p.Arg1642HisfsTer28
NM_001318829.2:c.4889_4893del	NP_001305758.1:p.Arg1630HisfsTer28
NM_001318831.2:c.4502_4506del	NP_001305760.1:p.Arg1501HisfsTer28
NM_001318832.2:c.5066_5070del	NP_001305761.1:p.Arg1689HisfsTer28
NM_001363528.2:c.5036_5040del	NP_001350457.1:p.Arg1679HisfsTer28
NM_021055.3:c.5105_5109del	NP_066399.2:p.Arg1702HisfsTer28