Canonical Allele Identifier: CA020711

Gene: TSC2

Linked Data

• ClinVar Variation Id: 49307
• ClinVar RCV Id: RCV000042566
• dbSNP Id: rs137854407
• MyVariant Identifiers: chr16:g.2135237_2135243del (hg19) ; chr16:g.2085236_2085242del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2085236_2085242del , CM000678.2:g.2085236_2085242del	GRCh38
NC_000016.9:g.2135237_2135243del , CM000678.1:g.2135237_2135243del	GRCh37
NC_000016.8:g.2075238_2075244del	NCBI36
NG_005895.1:g.40931_40937del , LRG_487:g.40931_40937del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2925_*2931del	ENSP00000455997.2:n.*2925_*2931del
ENST00000642206.2:c.4423_4429del	ENSP00000495146.2:p.Phe1476GlyfsTer?
ENST00000642365.2:c.4573_4579del	ENSP00000495459.2:p.Phe1526GlyfsTer?
ENST00000644417.2:c.*4956_*4962del	ENSP00000493912.2:n.*4956_*4962del
ENST00000646464.2:c.*7325_*7331del	ENSP00000496610.2:n.*7325_*7331del
ENST00000219476.9:c.4576_4582del MANE Select	ENSP00000219476.3:p.Phe1527GlyfsTer?
ENST00000350773.9:c.4507_4513del	ENSP00000344383.4:p.Phe1504GlyfsTer?
ENST00000401874.7:c.4375_4381del	ENSP00000384468.2:p.Phe1460GlyfsTer?
ENST00000568454.6:c.4408_4414del	ENSP00000454487.1:p.Phe1471GlyfsTer?
ENST00000569110.2:c.799_805del
ENST00000569930.2:n.2458_2464del
ENST00000642365.1:c.3230_3236del
ENST00000642561.1:c.4447_4453del	ENSP00000495099.1:p.Phe1484GlyfsTer?
ENST00000642728.1:n.758_764del
ENST00000642791.1:n.173_179del
ENST00000642797.1:c.4378_4384del	ENSP00000493846.1:p.Phe1461GlyfsTer?
ENST00000642936.1:c.4444_4450del	ENSP00000494514.1:p.Phe1483GlyfsTer?
ENST00000643088.1:c.4369_4375del
ENST00000643177.1:n.590_596del
ENST00000643426.1:n.2224_2230del
ENST00000643946.1:c.4501_4507del
ENST00000644043.1:c.4447_4453del	ENSP00000496262.1:p.Phe1484GlyfsTer?
ENST00000644278.1:n.58_64del
ENST00000644329.1:c.4375_4381del	ENSP00000496611.1:p.Phe1460GlyfsTer?
ENST00000644335.1:c.4372_4378del
ENST00000644399.1:c.4497_4503del
ENST00000645024.1:n.2660_2666del
ENST00000646388.1:c.4570_4576del
ENST00000646634.1:n.3391_3397del
ENST00000646674.1:n.1828_1834del
ENST00000647042.1:n.1799_1805del
ENST00000647180.1:n.1689_1695del
ENST00000219476.7:c.4576_4582del	ENSP00000219476.3:p.Phe1527GlyfsTer?
ENST00000350773.8:c.4507_4513del	ENSP00000344383.4:p.Phe1504GlyfsTer?
ENST00000382538.10:c.4231_4237del	ENSP00000371978.6:p.Phe1412GlyfsTer?
ENST00000401874.6:c.4375_4381del	ENSP00000384468.2:p.Phe1460GlyfsTer?
ENST00000439117.6:c.*3743_*3749del	ENSP00000406980.2:n.*3743_*3749del
ENST00000439673.6:c.4267_4273del	ENSP00000399232.2:p.Phe1424GlyfsTer?
ENST00000497886.5:n.2334_2340del
ENST00000568454.5:c.4408_4414del	ENSP00000454487.1:p.Phe1471GlyfsTer?
ENST00000569110.1:c.758_764del
ENST00000569930.1:n.1691_1697del
NM_000548.3:c.4576_4582del , LRG_487t1:c.4576_4582del	NP_000539.2:p.Phe1527GlyfsTer?
NM_001077183.1:c.4375_4381del	NP_001070651.1:p.Phe1460GlyfsTer?
NM_001114382.1:c.4507_4513del	NP_001107854.1:p.Phe1504GlyfsTer?
XM_005255529.3:c.4447_4453del	XP_005255586.2:p.Phe1484GlyfsTer?
XM_005255531.3:c.4378_4384del	XP_005255588.2:p.Phe1461GlyfsTer?
XM_011522636.1:c.4630_4636del	XP_011520938.1:p.Phe1545GlyfsTer?
XM_011522637.1:c.4627_4633del	XP_011520939.1:p.Phe1544GlyfsTer?
XM_011522638.1:c.4519_4525del	XP_011520940.1:p.Phe1508GlyfsTer?
XM_011522639.1:c.4501_4507del	XP_011520941.1:p.Phe1502GlyfsTer?
XM_011522640.1:c.4498_4504del	XP_011520942.1:p.Phe1501GlyfsTer?
XM_011522641.1:c.4267_4273del	XP_011520943.1:p.Phe1424GlyfsTer?
NM_000548.4:c.4576_4582del	NP_000539.2:p.Phe1527GlyfsTer?
NM_001077183.2:c.4375_4381del	NP_001070651.1:p.Phe1460GlyfsTer?
NM_001114382.2:c.4507_4513del	NP_001107854.1:p.Phe1504GlyfsTer?
NM_001318827.1:c.4267_4273del	NP_001305756.1:p.Phe1424GlyfsTer?
NM_001318829.1:c.4231_4237del	NP_001305758.1:p.Phe1412GlyfsTer?
NM_001318831.1:c.3844_3850del	NP_001305760.1:p.Phe1283GlyfsTer?
NM_001318832.1:c.4408_4414del	NP_001305761.1:p.Phe1471GlyfsTer?
NM_001363528.1:c.4378_4384del	NP_001350457.1:p.Phe1461GlyfsTer?
NM_021055.2:c.4447_4453del	NP_066399.2:p.Phe1484GlyfsTer?
XM_005255531.4:c.4378_4384del	XP_005255588.2:p.Phe1461GlyfsTer?
XM_011522636.2:c.4630_4636del	XP_011520938.1:p.Phe1545GlyfsTer?
XM_011522637.2:c.4627_4633del	XP_011520939.1:p.Phe1544GlyfsTer?
XM_011522638.2:c.4792_4798del	XP_011520940.2:p.Phe1599GlyfsTer?
XM_011522639.2:c.4501_4507del	XP_011520941.1:p.Phe1502GlyfsTer?
XM_011522640.2:c.4498_4504del	XP_011520942.1:p.Phe1501GlyfsTer?
XM_017023615.1:c.4573_4579del	XP_016879104.1:p.Phe1526GlyfsTer?
XM_017023616.1:c.4444_4450del	XP_016879105.1:p.Phe1483GlyfsTer?
XM_017023617.1:c.4540_4546del	XP_016879106.1:p.Phe1515GlyfsTer?
XM_017023618.1:c.3286_3292del	XP_016879107.1:p.Phe1097GlyfsTer?
XM_024450413.1:c.4375_4381del	XP_024306181.1:p.Phe1460GlyfsTer?
NM_000548.5:c.4576_4582del MANE Select	NP_000539.2:p.Phe1527GlyfsTer?
NM_001370404.1:c.4444_4450del	NP_001357333.1:p.Phe1483GlyfsTer?
NM_001370405.1:c.4447_4453del	NP_001357334.1:p.Phe1484GlyfsTer?
NM_001077183.3:c.4375_4381del	NP_001070651.1:p.Phe1460GlyfsTer?
NM_001114382.3:c.4507_4513del	NP_001107854.1:p.Phe1504GlyfsTer?
NM_001318827.2:c.4267_4273del	NP_001305756.1:p.Phe1424GlyfsTer?
NM_001318829.2:c.4231_4237del	NP_001305758.1:p.Phe1412GlyfsTer?
NM_001318831.2:c.3844_3850del	NP_001305760.1:p.Phe1283GlyfsTer?
NM_001318832.2:c.4408_4414del	NP_001305761.1:p.Phe1471GlyfsTer?
NM_001363528.2:c.4378_4384del	NP_001350457.1:p.Phe1461GlyfsTer?
NM_021055.3:c.4447_4453del	NP_066399.2:p.Phe1484GlyfsTer?