Canonical Allele Identifier: CA973768428

Gene: TSC2

Linked Data

• dbSNP Id: rs2090665310
• gnomAD v3: 16-2085497-C-CGGT
• gnomAD v4: 16-2085497-C-CGGT

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2085499_2085501dup , CM000678.2:g.2085499_2085501dup	GRCh38
NC_000016.9:g.2135500_2135502dup , CM000678.1:g.2135500_2135502dup	GRCh37
NC_000016.8:g.2075501_2075503dup	NCBI36
NG_005895.1:g.41194_41196dup , LRG_487:g.41194_41196dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3011+177_*3011+179dup	ENSP00000455997.2:n.*3011+177_*3011+179dup
ENST00000642206.2:c.4509+177_4509+179dup	ENSP00000495146.2:n.4509+177_4509+179dup
ENST00000642365.2:c.4659+177_4659+179dup	ENSP00000495459.2:n.4659+177_4659+179dup
ENST00000644417.2:c.*5099_*5101dup	ENSP00000493912.2:n.*5099_*5101dup
ENST00000646464.2:c.*7411+177_*7411+179dup	ENSP00000496610.2:n.*7411+177_*7411+179dup
ENST00000219476.9:c.4662+177_4662+179dup MANE Select	ENSP00000219476.3:n.4662+177_4662+179dup
ENST00000350773.9:c.4593+177_4593+179dup	ENSP00000344383.4:n.4593+177_4593+179dup
ENST00000401874.7:c.4461+177_4461+179dup	ENSP00000384468.2:n.4461+177_4461+179dup
ENST00000568454.6:c.4494+177_4494+179dup	ENSP00000454487.1:n.4494+177_4494+179dup
ENST00000569110.2:c.885+177_885+179dup
ENST00000569930.2:n.2544+177_2544+179dup
ENST00000642365.1:c.3316+177_3316+179dup
ENST00000642561.1:c.4533+177_4533+179dup	ENSP00000495099.1:n.4533+177_4533+179dup
ENST00000642728.1:n.844+177_844+179dup
ENST00000642791.1:n.259+177_259+179dup
ENST00000642797.1:c.4464+177_4464+179dup	ENSP00000493846.1:n.4464+177_4464+179dup
ENST00000642936.1:c.4530+177_4530+179dup	ENSP00000494514.1:n.4530+177_4530+179dup
ENST00000643088.1:c.4455+177_4455+179dup	ENSP00000494747.1:n.4455+177_4455+179dup
ENST00000643177.1:n.676+177_676+179dup
ENST00000643426.1:n.2310+177_2310+179dup
ENST00000643946.1:c.4587+177_4587+179dup	ENSP00000495927.1:n.4587+177_4587+179dup
ENST00000644043.1:c.4533+177_4533+179dup	ENSP00000496262.1:n.4533+177_4533+179dup
ENST00000644278.1:n.144+177_144+179dup
ENST00000644329.1:c.4461+177_4461+179dup	ENSP00000496611.1:n.4461+177_4461+179dup
ENST00000644335.1:c.4458+177_4458+179dup	ENSP00000496317.1:n.4458+177_4458+179dup
ENST00000644399.1:c.4583+177_4583+179dup
ENST00000645024.1:n.2746+177_2746+179dup
ENST00000646388.1:c.4656+177_4656+179dup	ENSP00000495921.1:n.4656+177_4656+179dup
ENST00000646634.1:n.3477+177_3477+179dup
ENST00000646674.1:n.1914+177_1914+179dup
ENST00000647042.1:n.1885+177_1885+179dup
ENST00000647180.1:n.1775+177_1775+179dup
ENST00000219476.7:c.4662+177_4662+179dup	ENSP00000219476.3:n.4662+177_4662+179dup
ENST00000350773.8:c.4593+177_4593+179dup	ENSP00000344383.4:n.4593+177_4593+179dup
ENST00000382538.10:c.4317+177_4317+179dup	ENSP00000371978.6:n.4317+177_4317+179dup
ENST00000401874.6:c.4461+177_4461+179dup	ENSP00000384468.2:n.4461+177_4461+179dup
ENST00000439117.6:c.*3829+177_*3829+179dup	ENSP00000406980.2:n.*3829+177_*3829+179dup
ENST00000439673.6:c.4353+177_4353+179dup	ENSP00000399232.2:n.4353+177_4353+179dup
ENST00000497886.5:n.2420+177_2420+179dup
ENST00000568454.5:c.4494+177_4494+179dup	ENSP00000454487.1:n.4494+177_4494+179dup
ENST00000569110.1:c.844+177_844+179dup
ENST00000569930.1:n.1777+177_1777+179dup
NM_000548.3:c.4662+177_4662+179dup , LRG_487t1:c.4662+177_4662+179dup	NP_000539.2:n.4662+177_4662+179dup
NM_001077183.1:c.4461+177_4461+179dup	NP_001070651.1:n.4461+177_4461+179dup
NM_001114382.1:c.4593+177_4593+179dup	NP_001107854.1:n.4593+177_4593+179dup
XM_005255529.3:c.4533+177_4533+179dup	XP_005255586.2:n.4533+177_4533+179dup
XM_005255531.3:c.4464+177_4464+179dup	XP_005255588.2:n.4464+177_4464+179dup
XM_011522636.1:c.4716+177_4716+179dup	XP_011520938.1:n.4716+177_4716+179dup
XM_011522637.1:c.4713+177_4713+179dup	XP_011520939.1:n.4713+177_4713+179dup
XM_011522638.1:c.4605+177_4605+179dup	XP_011520940.1:n.4605+177_4605+179dup
XM_011522639.1:c.4587+177_4587+179dup	XP_011520941.1:n.4587+177_4587+179dup
XM_011522640.1:c.4584+177_4584+179dup	XP_011520942.1:n.4584+177_4584+179dup
XM_011522641.1:c.4353+177_4353+179dup	XP_011520943.1:n.4353+177_4353+179dup
NM_000548.4:c.4662+177_4662+179dup	NP_000539.2:n.4662+177_4662+179dup
NM_001077183.2:c.4461+177_4461+179dup	NP_001070651.1:n.4461+177_4461+179dup
NM_001114382.2:c.4593+177_4593+179dup	NP_001107854.1:n.4593+177_4593+179dup
NM_001318827.1:c.4353+177_4353+179dup	NP_001305756.1:n.4353+177_4353+179dup
NM_001318829.1:c.4317+177_4317+179dup	NP_001305758.1:n.4317+177_4317+179dup
NM_001318831.1:c.3930+177_3930+179dup	NP_001305760.1:n.3930+177_3930+179dup
NM_001318832.1:c.4494+177_4494+179dup	NP_001305761.1:n.4494+177_4494+179dup
NM_001363528.1:c.4464+177_4464+179dup	NP_001350457.1:n.4464+177_4464+179dup
NM_021055.2:c.4533+177_4533+179dup	NP_066399.2:n.4533+177_4533+179dup
XM_005255531.4:c.4464+177_4464+179dup	XP_005255588.2:n.4464+177_4464+179dup
XM_011522636.2:c.4716+177_4716+179dup	XP_011520938.1:n.4716+177_4716+179dup
XM_011522637.2:c.4713+177_4713+179dup	XP_011520939.1:n.4713+177_4713+179dup
XM_011522638.2:c.4878+177_4878+179dup	XP_011520940.2:n.4878+177_4878+179dup
XM_011522639.2:c.4587+177_4587+179dup	XP_011520941.1:n.4587+177_4587+179dup
XM_011522640.2:c.4584+177_4584+179dup	XP_011520942.1:n.4584+177_4584+179dup
XM_017023615.1:c.4659+177_4659+179dup	XP_016879104.1:n.4659+177_4659+179dup
XM_017023616.1:c.4530+177_4530+179dup	XP_016879105.1:n.4530+177_4530+179dup
XM_017023617.1:c.4626+177_4626+179dup	XP_016879106.1:n.4626+177_4626+179dup
XM_017023618.1:c.3372+177_3372+179dup	XP_016879107.1:n.3372+177_3372+179dup
XM_024450413.1:c.4461+177_4461+179dup	XP_024306181.1:n.4461+177_4461+179dup
NM_000548.5:c.4662+177_4662+179dup MANE Select	NP_000539.2:n.4662+177_4662+179dup
NM_001370404.1:c.4530+177_4530+179dup	NP_001357333.1:n.4530+177_4530+179dup
NM_001370405.1:c.4533+177_4533+179dup	NP_001357334.1:n.4533+177_4533+179dup
NM_001077183.3:c.4461+177_4461+179dup	NP_001070651.1:n.4461+177_4461+179dup
NM_001114382.3:c.4593+177_4593+179dup	NP_001107854.1:n.4593+177_4593+179dup
NM_001318827.2:c.4353+177_4353+179dup	NP_001305756.1:n.4353+177_4353+179dup
NM_001318829.2:c.4317+177_4317+179dup	NP_001305758.1:n.4317+177_4317+179dup
NM_001318831.2:c.3930+177_3930+179dup	NP_001305760.1:n.3930+177_3930+179dup
NM_001318832.2:c.4494+177_4494+179dup	NP_001305761.1:n.4494+177_4494+179dup
NM_001363528.2:c.4464+177_4464+179dup	NP_001350457.1:n.4464+177_4464+179dup
NM_021055.3:c.4533+177_4533+179dup	NP_066399.2:n.4533+177_4533+179dup