Canonical Allele Identifier: CA020169

Gene: TSC2

Linked Data

• ClinVar Variation Id: 65258
• ClinVar RCV Id: RCV000055479
• dbSNP Id: rs1555514235
• MyVariant Identifiers: chr16:g.2134496_2134560del (hg19) ; chr16:g.2084495_2084559del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2084495_2084559del , CM000678.2:g.2084495_2084559del	GRCh38
NC_000016.9:g.2134496_2134560del , CM000678.1:g.2134496_2134560del	GRCh37
NC_000016.8:g.2074497_2074561del	NCBI36
NG_005895.1:g.40190_40254del , LRG_487:g.40190_40254del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2622_*2686del	ENSP00000455997.2:n.*2622_*2686del
ENST00000642206.2:c.4120_4184del	ENSP00000495146.2:p.Gly1374PhefsTer?
ENST00000642365.2:c.4270_4334del	ENSP00000495459.2:p.Gly1424PhefsTer?
ENST00000644417.2:c.*4653_*4717del	ENSP00000493912.2:n.*4653_*4717del
ENST00000646464.2:c.*7022_*7086del	ENSP00000496610.2:n.*7022_*7086del
ENST00000219476.9:c.4273_4337del MANE Select	ENSP00000219476.3:p.Gly1425PhefsTer?
ENST00000350773.9:c.4204_4268del	ENSP00000344383.4:p.Gly1402PhefsTer?
ENST00000401874.7:c.4072_4136del	ENSP00000384468.2:p.Gly1358PhefsTer?
ENST00000568454.6:c.4105_4169del	ENSP00000454487.1:p.Gly1369PhefsTer?
ENST00000569110.2:c.509_573del
ENST00000569930.2:n.2155_2219del
ENST00000642365.1:c.2927_2991del
ENST00000642561.1:c.4144_4208del	ENSP00000495099.1:p.Gly1382PhefsTer?
ENST00000642728.1:n.455_519del
ENST00000642797.1:c.4075_4139del	ENSP00000493846.1:p.Gly1359PhefsTer?
ENST00000642936.1:c.4141_4205del	ENSP00000494514.1:p.Gly1381PhefsTer?
ENST00000643088.1:c.4072_4136del	ENSP00000494747.1:p.Gly1358PhefsTer?
ENST00000643177.1:n.287_351del
ENST00000643426.1:n.1921_1985del
ENST00000643946.1:c.4204_4268del	ENSP00000495927.1:p.Gly1402PhefsTer?
ENST00000644043.1:c.4144_4208del	ENSP00000496262.1:p.Gly1382PhefsTer?
ENST00000644329.1:c.4072_4136del	ENSP00000496611.1:p.Gly1358PhefsTer?
ENST00000644335.1:c.4075_4139del	ENSP00000496317.1:p.Gly1359PhefsTer?
ENST00000644399.1:c.4194_4258del
ENST00000645024.1:n.2357_2421del
ENST00000646388.1:c.4273_4337del	ENSP00000495921.1:p.Gly1425PhefsTer?
ENST00000646634.1:n.3088_3152del
ENST00000646674.1:n.1525_1589del
ENST00000647042.1:n.1496_1560del
ENST00000647180.1:n.1386_1450del
ENST00000219476.7:c.4273_4337del	ENSP00000219476.3:p.Gly1425PhefsTer?
ENST00000350773.8:c.4204_4268del	ENSP00000344383.4:p.Gly1402PhefsTer?
ENST00000382538.10:c.3928_3992del	ENSP00000371978.6:p.Gly1310PhefsTer?
ENST00000401874.6:c.4072_4136del	ENSP00000384468.2:p.Gly1358PhefsTer?
ENST00000439117.6:c.*3440_*3504del	ENSP00000406980.2:n.*3440_*3504del
ENST00000439673.6:c.3964_4028del	ENSP00000399232.2:p.Gly1322PhefsTer?
ENST00000497886.5:n.2031_2095del
ENST00000568454.5:c.4105_4169del	ENSP00000454487.1:p.Gly1369PhefsTer?
ENST00000569110.1:c.455_519del
ENST00000569930.1:n.1388_1452del
NM_000548.3:c.4273_4337del , LRG_487t1:c.4273_4337del	NP_000539.2:p.Gly1425PhefsTer?
NM_001077183.1:c.4072_4136del	NP_001070651.1:p.Gly1358PhefsTer?
NM_001114382.1:c.4204_4268del	NP_001107854.1:p.Gly1402PhefsTer?
XM_005255529.3:c.4144_4208del	XP_005255586.2:p.Gly1382PhefsTer?
XM_005255531.3:c.4075_4139del	XP_005255588.2:p.Gly1359PhefsTer?
XM_011522636.1:c.4327_4391del	XP_011520938.1:p.Gly1443PhefsTer?
XM_011522637.1:c.4324_4388del	XP_011520939.1:p.Gly1442PhefsTer?
XM_011522638.1:c.4216_4280del	XP_011520940.1:p.Gly1406PhefsTer?
XM_011522639.1:c.4198_4262del	XP_011520941.1:p.Gly1400PhefsTer?
XM_011522640.1:c.4195_4259del	XP_011520942.1:p.Gly1399PhefsTer?
XM_011522641.1:c.3964_4028del	XP_011520943.1:p.Gly1322PhefsTer?
NM_000548.4:c.4273_4337del	NP_000539.2:p.Gly1425PhefsTer?
NM_001077183.2:c.4072_4136del	NP_001070651.1:p.Gly1358PhefsTer?
NM_001114382.2:c.4204_4268del	NP_001107854.1:p.Gly1402PhefsTer?
NM_001318827.1:c.3964_4028del	NP_001305756.1:p.Gly1322PhefsTer?
NM_001318829.1:c.3928_3992del	NP_001305758.1:p.Gly1310PhefsTer?
NM_001318831.1:c.3541_3605del	NP_001305760.1:p.Gly1181PhefsTer?
NM_001318832.1:c.4105_4169del	NP_001305761.1:p.Gly1369PhefsTer?
NM_001363528.1:c.4075_4139del	NP_001350457.1:p.Gly1359PhefsTer?
NM_021055.2:c.4144_4208del	NP_066399.2:p.Gly1382PhefsTer?
XM_005255531.4:c.4075_4139del	XP_005255588.2:p.Gly1359PhefsTer?
XM_011522636.2:c.4327_4391del	XP_011520938.1:p.Gly1443PhefsTer?
XM_011522637.2:c.4324_4388del	XP_011520939.1:p.Gly1442PhefsTer?
XM_011522638.2:c.4489_4553del	XP_011520940.2:p.Gly1497PhefsTer?
XM_011522639.2:c.4198_4262del	XP_011520941.1:p.Gly1400PhefsTer?
XM_011522640.2:c.4195_4259del	XP_011520942.1:p.Gly1399PhefsTer?
XM_017023615.1:c.4270_4334del	XP_016879104.1:p.Gly1424PhefsTer?
XM_017023616.1:c.4141_4205del	XP_016879105.1:p.Gly1381PhefsTer?
XM_017023617.1:c.4237_4301del	XP_016879106.1:p.Gly1413PhefsTer?
XM_017023618.1:c.2983_3047del	XP_016879107.1:p.Gly995PhefsTer?
XM_024450413.1:c.4072_4136del	XP_024306181.1:p.Gly1358PhefsTer?
NM_000548.5:c.4273_4337del MANE Select	NP_000539.2:p.Gly1425PhefsTer?
NM_001370404.1:c.4141_4205del	NP_001357333.1:p.Gly1381PhefsTer?
NM_001370405.1:c.4144_4208del	NP_001357334.1:p.Gly1382PhefsTer?
NM_001077183.3:c.4072_4136del	NP_001070651.1:p.Gly1358PhefsTer?
NM_001114382.3:c.4204_4268del	NP_001107854.1:p.Gly1402PhefsTer?
NM_001318827.2:c.3964_4028del	NP_001305756.1:p.Gly1322PhefsTer?
NM_001318829.2:c.3928_3992del	NP_001305758.1:p.Gly1310PhefsTer?
NM_001318831.2:c.3541_3605del	NP_001305760.1:p.Gly1181PhefsTer?
NM_001318832.2:c.4105_4169del	NP_001305761.1:p.Gly1369PhefsTer?
NM_001363528.2:c.4075_4139del	NP_001350457.1:p.Gly1359PhefsTer?
NM_021055.3:c.4144_4208del	NP_066399.2:p.Gly1382PhefsTer?