Canonical Allele Identifier: CA2202032704

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088321_2088322delinsAG , CM000678.2:g.2088321_2088322delinsAG	GRCh38
NC_000016.9:g.2138322_2138323delinsAG , CM000678.1:g.2138322_2138323delinsAG	GRCh37
NC_000016.8:g.2078323_2078324delinsAG	NCBI36
NG_005895.1:g.44016_44017delinsAG , LRG_487:g.44016_44017delinsAG
NG_008617.1:g.54899_54900delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3604_*3605delinsAG	ENSP00000455997.2:n.*3604_*3605delinsAG
ENST00000642206.2:c.5102_5103delinsAG	ENSP00000495146.2:p.Gln1701=
ENST00000642365.2:c.5252_5253delinsAG	ENSP00000495459.2:p.Gln1751=
ENST00000644417.2:c.*5768_*5769delinsAG	ENSP00000493912.2:n.*5768_*5769delinsAG
ENST00000646464.2:c.*8004_*8005delinsAG	ENSP00000496610.2:n.*8004_*8005delinsAG
ENST00000219476.9:c.5255_5256delinsAG MANE Select	ENSP00000219476.3:p.Gln1752=
ENST00000350773.9:c.5186_5187delinsAG	ENSP00000344383.4:p.Gln1729=
ENST00000401874.7:c.5054_5055delinsAG	ENSP00000384468.2:p.Gln1685=
ENST00000568454.6:c.5087_5088delinsAG	ENSP00000454487.1:p.Gln1696=
ENST00000569110.2:c.1478_1479delinsAG
ENST00000569930.2:n.3137_3138delinsAG
ENST00000642365.1:c.3909_3910delinsAG
ENST00000642561.1:c.5114_5115delinsAG	ENSP00000495099.1:p.Gln1705=
ENST00000642791.1:n.852_853delinsAG
ENST00000642797.1:c.5057_5058delinsAG	ENSP00000493846.1:p.Gln1686=
ENST00000642936.1:c.5123_5124delinsAG	ENSP00000494514.1:p.Gln1708=
ENST00000643088.1:c.5048_5049delinsAG	ENSP00000494747.1:p.Gln1683=
ENST00000643426.1:n.2903_2904delinsAG
ENST00000643946.1:c.5180_5181delinsAG	ENSP00000495927.1:p.Gln1727=
ENST00000644043.1:c.5126_5127delinsAG	ENSP00000496262.1:p.Gln1709=
ENST00000644329.1:c.5141_5142delinsAG	ENSP00000496611.1:p.Gln1714=
ENST00000644335.1:c.5051_5052delinsAG	ENSP00000496317.1:p.Gln1684=
ENST00000644399.1:c.5176_5177delinsAG
ENST00000645024.1:n.3339_3340delinsAG
ENST00000646388.1:c.5249_5250delinsAG	ENSP00000495921.1:p.Gln1750=
ENST00000646634.1:n.4070_4071delinsAG
ENST00000646674.1:n.2507_2508delinsAG
ENST00000647042.1:n.2478_2479delinsAG
ENST00000647180.1:n.2368_2369delinsAG
ENST00000219476.7:c.5255_5256delinsAG	ENSP00000219476.3:p.Gln1752=
ENST00000350773.8:c.5186_5187delinsAG	ENSP00000344383.4:p.Gln1729=
ENST00000382538.10:c.4910_4911delinsAG	ENSP00000371978.6:p.Gln1637=
ENST00000401874.6:c.5054_5055delinsAG	ENSP00000384468.2:p.Gln1685=
ENST00000439117.6:c.*4422_*4423delinsAG	ENSP00000406980.2:n.*4422_*4423delinsAG
ENST00000439673.6:c.4946_4947delinsAG	ENSP00000399232.2:p.Gln1649=
ENST00000497886.5:n.2978_2979delinsAG
ENST00000568454.5:c.5087_5088delinsAG	ENSP00000454487.1:p.Gln1696=
ENST00000569110.1:c.1437_1438delinsAG
ENST00000569930.1:n.2370_2371delinsAG
NM_000548.3:c.5255_5256delinsAG , LRG_487t1:c.5255_5256delinsAG	NP_000539.2:p.Gln1752=
NM_001077183.1:c.5054_5055delinsAG	NP_001070651.1:p.Gln1685=
NM_001114382.1:c.5186_5187delinsAG	NP_001107854.1:p.Gln1729=
XM_005255529.3:c.5126_5127delinsAG	XP_005255586.2:p.Gln1709=
XM_005255531.3:c.5057_5058delinsAG	XP_005255588.2:p.Gln1686=
XM_011522636.1:c.5309_5310delinsAG	XP_011520938.1:p.Gln1770=
XM_011522637.1:c.5306_5307delinsAG	XP_011520939.1:p.Gln1769=
XM_011522638.1:c.5198_5199delinsAG	XP_011520940.1:p.Gln1733=
XM_011522639.1:c.5180_5181delinsAG	XP_011520941.1:p.Gln1727=
XM_011522640.1:c.5177_5178delinsAG	XP_011520942.1:p.Gln1726=
XM_011522641.1:c.4946_4947delinsAG	XP_011520943.1:p.Gln1649=
NM_000548.4:c.5255_5256delinsAG	NP_000539.2:p.Gln1752=
NM_001077183.2:c.5054_5055delinsAG	NP_001070651.1:p.Gln1685=
NM_001114382.2:c.5186_5187delinsAG	NP_001107854.1:p.Gln1729=
NM_001318827.1:c.4946_4947delinsAG	NP_001305756.1:p.Gln1649=
NM_001318829.1:c.4910_4911delinsAG	NP_001305758.1:p.Gln1637=
NM_001318831.1:c.4523_4524delinsAG	NP_001305760.1:p.Gln1508=
NM_001318832.1:c.5087_5088delinsAG	NP_001305761.1:p.Gln1696=
NM_001363528.1:c.5057_5058delinsAG	NP_001350457.1:p.Gln1686=
NM_021055.2:c.5126_5127delinsAG	NP_066399.2:p.Gln1709=
XM_005255531.4:c.5057_5058delinsAG	XP_005255588.2:p.Gln1686=
XM_011522636.2:c.5309_5310delinsAG	XP_011520938.1:p.Gln1770=
XM_011522637.2:c.5306_5307delinsAG	XP_011520939.1:p.Gln1769=
XM_011522638.2:c.5471_5472delinsAG	XP_011520940.2:p.Gln1824=
XM_011522639.2:c.5180_5181delinsAG	XP_011520941.1:p.Gln1727=
XM_011522640.2:c.5177_5178delinsAG	XP_011520942.1:p.Gln1726=
XM_017023615.1:c.5252_5253delinsAG	XP_016879104.1:p.Gln1751=
XM_017023616.1:c.5123_5124delinsAG	XP_016879105.1:p.Gln1708=
XM_017023617.1:c.5219_5220delinsAG	XP_016879106.1:p.Gln1740=
XM_017023618.1:c.3965_3966delinsAG	XP_016879107.1:p.Gln1322=
XM_024450413.1:c.5141_5142delinsAG	XP_024306181.1:p.Gln1714=
NM_000548.5:c.5255_5256delinsAG MANE Select	NP_000539.2:p.Gln1752=
NM_001370404.1:c.5123_5124delinsAG	NP_001357333.1:p.Gln1708=
NM_001370405.1:c.5114_5115delinsAG	NP_001357334.1:p.Gln1705=
NM_001077183.3:c.5054_5055delinsAG	NP_001070651.1:p.Gln1685=
NM_001114382.3:c.5186_5187delinsAG	NP_001107854.1:p.Gln1729=
NM_001318827.2:c.4946_4947delinsAG	NP_001305756.1:p.Gln1649=
NM_001318829.2:c.4910_4911delinsAG	NP_001305758.1:p.Gln1637=
NM_001318831.2:c.4523_4524delinsAG	NP_001305760.1:p.Gln1508=
NM_001318832.2:c.5087_5088delinsAG	NP_001305761.1:p.Gln1696=
NM_001363528.2:c.5057_5058delinsAG	NP_001350457.1:p.Gln1686=
NM_021055.3:c.5126_5127delinsAG	NP_066399.2:p.Gln1709=