Canonical Allele Identifier: CA2805573209

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2085480_2085481del , CM000678.2:g.2085480_2085481del	GRCh38
NC_000016.9:g.2135481_2135482del , CM000678.1:g.2135481_2135482del	GRCh37
NC_000016.8:g.2075482_2075483del	NCBI36
NG_005895.1:g.41175_41176del , LRG_487:g.41175_41176del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3011+158_*3011+159del	ENSP00000455997.2:n.*3011+158_*3011+159del
ENST00000642206.2:c.4509+158_4509+159del	ENSP00000495146.2:n.4509+158_4509+159del
ENST00000642365.2:c.4659+158_4659+159del	ENSP00000495459.2:n.4659+158_4659+159del
ENST00000644417.2:c.*5080_*5081del	ENSP00000493912.2:n.*5080_*5081del
ENST00000646464.2:c.*7411+158_*7411+159del	ENSP00000496610.2:n.*7411+158_*7411+159del
ENST00000219476.9:c.4662+158_4662+159del MANE Select	ENSP00000219476.3:n.4662+158_4662+159del
ENST00000350773.9:c.4593+158_4593+159del	ENSP00000344383.4:n.4593+158_4593+159del
ENST00000401874.7:c.4461+158_4461+159del	ENSP00000384468.2:n.4461+158_4461+159del
ENST00000568454.6:c.4494+158_4494+159del	ENSP00000454487.1:n.4494+158_4494+159del
ENST00000569110.2:c.885+158_885+159del
ENST00000569930.2:n.2544+158_2544+159del
ENST00000642365.1:c.3316+158_3316+159del
ENST00000642561.1:c.4533+158_4533+159del	ENSP00000495099.1:n.4533+158_4533+159del
ENST00000642728.1:n.844+158_844+159del
ENST00000642791.1:n.259+158_259+159del
ENST00000642797.1:c.4464+158_4464+159del	ENSP00000493846.1:n.4464+158_4464+159del
ENST00000642936.1:c.4530+158_4530+159del	ENSP00000494514.1:n.4530+158_4530+159del
ENST00000643088.1:c.4455+158_4455+159del	ENSP00000494747.1:n.4455+158_4455+159del
ENST00000643177.1:n.676+158_676+159del
ENST00000643426.1:n.2310+158_2310+159del
ENST00000643946.1:c.4587+158_4587+159del	ENSP00000495927.1:n.4587+158_4587+159del
ENST00000644043.1:c.4533+158_4533+159del	ENSP00000496262.1:n.4533+158_4533+159del
ENST00000644278.1:n.144+158_144+159del
ENST00000644329.1:c.4461+158_4461+159del	ENSP00000496611.1:n.4461+158_4461+159del
ENST00000644335.1:c.4458+158_4458+159del	ENSP00000496317.1:n.4458+158_4458+159del
ENST00000644399.1:c.4583+158_4583+159del
ENST00000645024.1:n.2746+158_2746+159del
ENST00000646388.1:c.4656+158_4656+159del	ENSP00000495921.1:n.4656+158_4656+159del
ENST00000646634.1:n.3477+158_3477+159del
ENST00000646674.1:n.1914+158_1914+159del
ENST00000647042.1:n.1885+158_1885+159del
ENST00000647180.1:n.1775+158_1775+159del
ENST00000219476.7:c.4662+158_4662+159del	ENSP00000219476.3:n.4662+158_4662+159del
ENST00000350773.8:c.4593+158_4593+159del	ENSP00000344383.4:n.4593+158_4593+159del
ENST00000382538.10:c.4317+158_4317+159del	ENSP00000371978.6:n.4317+158_4317+159del
ENST00000401874.6:c.4461+158_4461+159del	ENSP00000384468.2:n.4461+158_4461+159del
ENST00000439117.6:c.*3829+158_*3829+159del	ENSP00000406980.2:n.*3829+158_*3829+159del
ENST00000439673.6:c.4353+158_4353+159del	ENSP00000399232.2:n.4353+158_4353+159del
ENST00000497886.5:n.2420+158_2420+159del
ENST00000568454.5:c.4494+158_4494+159del	ENSP00000454487.1:n.4494+158_4494+159del
ENST00000569110.1:c.844+158_844+159del
ENST00000569930.1:n.1777+158_1777+159del
NM_000548.3:c.4662+158_4662+159del , LRG_487t1:c.4662+158_4662+159del	NP_000539.2:n.4662+158_4662+159del
NM_001077183.1:c.4461+158_4461+159del	NP_001070651.1:n.4461+158_4461+159del
NM_001114382.1:c.4593+158_4593+159del	NP_001107854.1:n.4593+158_4593+159del
XM_005255529.3:c.4533+158_4533+159del	XP_005255586.2:n.4533+158_4533+159del
XM_005255531.3:c.4464+158_4464+159del	XP_005255588.2:n.4464+158_4464+159del
XM_011522636.1:c.4716+158_4716+159del	XP_011520938.1:n.4716+158_4716+159del
XM_011522637.1:c.4713+158_4713+159del	XP_011520939.1:n.4713+158_4713+159del
XM_011522638.1:c.4605+158_4605+159del	XP_011520940.1:n.4605+158_4605+159del
XM_011522639.1:c.4587+158_4587+159del	XP_011520941.1:n.4587+158_4587+159del
XM_011522640.1:c.4584+158_4584+159del	XP_011520942.1:n.4584+158_4584+159del
XM_011522641.1:c.4353+158_4353+159del	XP_011520943.1:n.4353+158_4353+159del
NM_000548.4:c.4662+158_4662+159del	NP_000539.2:n.4662+158_4662+159del
NM_001077183.2:c.4461+158_4461+159del	NP_001070651.1:n.4461+158_4461+159del
NM_001114382.2:c.4593+158_4593+159del	NP_001107854.1:n.4593+158_4593+159del
NM_001318827.1:c.4353+158_4353+159del	NP_001305756.1:n.4353+158_4353+159del
NM_001318829.1:c.4317+158_4317+159del	NP_001305758.1:n.4317+158_4317+159del
NM_001318831.1:c.3930+158_3930+159del	NP_001305760.1:n.3930+158_3930+159del
NM_001318832.1:c.4494+158_4494+159del	NP_001305761.1:n.4494+158_4494+159del
NM_001363528.1:c.4464+158_4464+159del	NP_001350457.1:n.4464+158_4464+159del
NM_021055.2:c.4533+158_4533+159del	NP_066399.2:n.4533+158_4533+159del
XM_005255531.4:c.4464+158_4464+159del	XP_005255588.2:n.4464+158_4464+159del
XM_011522636.2:c.4716+158_4716+159del	XP_011520938.1:n.4716+158_4716+159del
XM_011522637.2:c.4713+158_4713+159del	XP_011520939.1:n.4713+158_4713+159del
XM_011522638.2:c.4878+158_4878+159del	XP_011520940.2:n.4878+158_4878+159del
XM_011522639.2:c.4587+158_4587+159del	XP_011520941.1:n.4587+158_4587+159del
XM_011522640.2:c.4584+158_4584+159del	XP_011520942.1:n.4584+158_4584+159del
XM_017023615.1:c.4659+158_4659+159del	XP_016879104.1:n.4659+158_4659+159del
XM_017023616.1:c.4530+158_4530+159del	XP_016879105.1:n.4530+158_4530+159del
XM_017023617.1:c.4626+158_4626+159del	XP_016879106.1:n.4626+158_4626+159del
XM_017023618.1:c.3372+158_3372+159del	XP_016879107.1:n.3372+158_3372+159del
XM_024450413.1:c.4461+158_4461+159del	XP_024306181.1:n.4461+158_4461+159del
NM_000548.5:c.4662+158_4662+159del MANE Select	NP_000539.2:n.4662+158_4662+159del
NM_001370404.1:c.4530+158_4530+159del	NP_001357333.1:n.4530+158_4530+159del
NM_001370405.1:c.4533+158_4533+159del	NP_001357334.1:n.4533+158_4533+159del
NM_001077183.3:c.4461+158_4461+159del	NP_001070651.1:n.4461+158_4461+159del
NM_001114382.3:c.4593+158_4593+159del	NP_001107854.1:n.4593+158_4593+159del
NM_001318827.2:c.4353+158_4353+159del	NP_001305756.1:n.4353+158_4353+159del
NM_001318829.2:c.4317+158_4317+159del	NP_001305758.1:n.4317+158_4317+159del
NM_001318831.2:c.3930+158_3930+159del	NP_001305760.1:n.3930+158_3930+159del
NM_001318832.2:c.4494+158_4494+159del	NP_001305761.1:n.4494+158_4494+159del
NM_001363528.2:c.4464+158_4464+159del	NP_001350457.1:n.4464+158_4464+159del
NM_021055.3:c.4533+158_4533+159del	NP_066399.2:n.4533+158_4533+159del