Canonical Allele Identifier: CA2631120676

Gene: TSC2

Linked Data

• gnomAD v4: 16-2085056-C-CAGGAGA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2085056_2085057insAGGAGA , CM000678.2:g.2085056_2085057insAGGAGA	GRCh38
NC_000016.9:g.2135057_2135058insAGGAGA , CM000678.1:g.2135057_2135058insAGGAGA	GRCh37
NC_000016.8:g.2075058_2075059insAGGAGA	NCBI36
NG_005895.1:g.40751_40752insAGGAGA , LRG_487:g.40751_40752insAGGAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2918+30_*2918+31insAGGAGA	ENSP00000455997.2:n.*2918+30_*2918+31insAGGAGA
ENST00000642206.2:c.4416+30_4416+31insAGGAGA	ENSP00000495146.2:n.4416+30_4416+31insAGGAGA
ENST00000642365.2:c.4566+30_4566+31insAGGAGA	ENSP00000495459.2:n.4566+30_4566+31insAGGAGA
ENST00000644417.2:c.*4949+30_*4949+31insAGGAGA	ENSP00000493912.2:n.*4949+30_*4949+31insAGGAGA
ENST00000646464.2:c.*7318+30_*7318+31insAGGAGA	ENSP00000496610.2:n.*7318+30_*7318+31insAGGAGA
ENST00000219476.9:c.4569+30_4569+31insAGGAGA MANE Select	ENSP00000219476.3:n.4569+30_4569+31insAGGAGA
ENST00000350773.9:c.4500+30_4500+31insAGGAGA	ENSP00000344383.4:n.4500+30_4500+31insAGGAGA
ENST00000401874.7:c.4368+30_4368+31insAGGAGA	ENSP00000384468.2:n.4368+30_4368+31insAGGAGA
ENST00000568454.6:c.4401+30_4401+31insAGGAGA	ENSP00000454487.1:n.4401+30_4401+31insAGGAGA
ENST00000569110.2:c.792+30_792+31insAGGAGA
ENST00000569930.2:n.2451+30_2451+31insAGGAGA
ENST00000642365.1:c.3223+30_3223+31insAGGAGA
ENST00000642561.1:c.4440+30_4440+31insAGGAGA	ENSP00000495099.1:n.4440+30_4440+31insAGGAGA
ENST00000642728.1:n.751+30_751+31insAGGAGA
ENST00000642797.1:c.4371+30_4371+31insAGGAGA	ENSP00000493846.1:n.4371+30_4371+31insAGGAGA
ENST00000642936.1:c.4437+30_4437+31insAGGAGA	ENSP00000494514.1:n.4437+30_4437+31insAGGAGA
ENST00000643088.1:c.4368+30_4368+31insAGGAGA	ENSP00000494747.1:n.4368+30_4368+31insAGGAGA
ENST00000643177.1:n.583+30_583+31insAGGAGA
ENST00000643426.1:n.2217+30_2217+31insAGGAGA
ENST00000643946.1:c.4500+30_4500+31insAGGAGA	ENSP00000495927.1:n.4500+30_4500+31insAGGAGA
ENST00000644043.1:c.4440+30_4440+31insAGGAGA	ENSP00000496262.1:n.4440+30_4440+31insAGGAGA
ENST00000644329.1:c.4368+30_4368+31insAGGAGA	ENSP00000496611.1:n.4368+30_4368+31insAGGAGA
ENST00000644335.1:c.4371+30_4371+31insAGGAGA	ENSP00000496317.1:n.4371+30_4371+31insAGGAGA
ENST00000644399.1:c.4490+30_4490+31insAGGAGA
ENST00000645024.1:n.2653+30_2653+31insAGGAGA
ENST00000646388.1:c.4569+30_4569+31insAGGAGA	ENSP00000495921.1:n.4569+30_4569+31insAGGAGA
ENST00000646634.1:n.3384+30_3384+31insAGGAGA
ENST00000646674.1:n.1821+30_1821+31insAGGAGA
ENST00000647042.1:n.1792+30_1792+31insAGGAGA
ENST00000647180.1:n.1682+30_1682+31insAGGAGA
ENST00000219476.7:c.4569+30_4569+31insAGGAGA	ENSP00000219476.3:n.4569+30_4569+31insAGGAGA
ENST00000350773.8:c.4500+30_4500+31insAGGAGA	ENSP00000344383.4:n.4500+30_4500+31insAGGAGA
ENST00000382538.10:c.4224+30_4224+31insAGGAGA	ENSP00000371978.6:n.4224+30_4224+31insAGGAGA
ENST00000401874.6:c.4368+30_4368+31insAGGAGA	ENSP00000384468.2:n.4368+30_4368+31insAGGAGA
ENST00000439117.6:c.*3736+30_*3736+31insAGGAGA	ENSP00000406980.2:n.*3736+30_*3736+31insAGGAGA
ENST00000439673.6:c.4260+30_4260+31insAGGAGA	ENSP00000399232.2:n.4260+30_4260+31insAGGAGA
ENST00000497886.5:n.2327+30_2327+31insAGGAGA
ENST00000568454.5:c.4401+30_4401+31insAGGAGA	ENSP00000454487.1:n.4401+30_4401+31insAGGAGA
ENST00000569110.1:c.751+30_751+31insAGGAGA
ENST00000569930.1:n.1684+30_1684+31insAGGAGA
NM_000548.3:c.4569+30_4569+31insAGGAGA , LRG_487t1:c.4569+30_4569+31insAGGAGA	NP_000539.2:n.4569+30_4569+31insAGGAGA
NM_001077183.1:c.4368+30_4368+31insAGGAGA	NP_001070651.1:n.4368+30_4368+31insAGGAGA
NM_001114382.1:c.4500+30_4500+31insAGGAGA	NP_001107854.1:n.4500+30_4500+31insAGGAGA
XM_005255529.3:c.4440+30_4440+31insAGGAGA	XP_005255586.2:n.4440+30_4440+31insAGGAGA
XM_005255531.3:c.4371+30_4371+31insAGGAGA	XP_005255588.2:n.4371+30_4371+31insAGGAGA
XM_011522636.1:c.4623+30_4623+31insAGGAGA	XP_011520938.1:n.4623+30_4623+31insAGGAGA
XM_011522637.1:c.4620+30_4620+31insAGGAGA	XP_011520939.1:n.4620+30_4620+31insAGGAGA
XM_011522638.1:c.4512+30_4512+31insAGGAGA	XP_011520940.1:n.4512+30_4512+31insAGGAGA
XM_011522639.1:c.4494+30_4494+31insAGGAGA	XP_011520941.1:n.4494+30_4494+31insAGGAGA
XM_011522640.1:c.4491+30_4491+31insAGGAGA	XP_011520942.1:n.4491+30_4491+31insAGGAGA
XM_011522641.1:c.4260+30_4260+31insAGGAGA	XP_011520943.1:n.4260+30_4260+31insAGGAGA
NM_000548.4:c.4569+30_4569+31insAGGAGA	NP_000539.2:n.4569+30_4569+31insAGGAGA
NM_001077183.2:c.4368+30_4368+31insAGGAGA	NP_001070651.1:n.4368+30_4368+31insAGGAGA
NM_001114382.2:c.4500+30_4500+31insAGGAGA	NP_001107854.1:n.4500+30_4500+31insAGGAGA
NM_001318827.1:c.4260+30_4260+31insAGGAGA	NP_001305756.1:n.4260+30_4260+31insAGGAGA
NM_001318829.1:c.4224+30_4224+31insAGGAGA	NP_001305758.1:n.4224+30_4224+31insAGGAGA
NM_001318831.1:c.3837+30_3837+31insAGGAGA	NP_001305760.1:n.3837+30_3837+31insAGGAGA
NM_001318832.1:c.4401+30_4401+31insAGGAGA	NP_001305761.1:n.4401+30_4401+31insAGGAGA
NM_001363528.1:c.4371+30_4371+31insAGGAGA	NP_001350457.1:n.4371+30_4371+31insAGGAGA
NM_021055.2:c.4440+30_4440+31insAGGAGA	NP_066399.2:n.4440+30_4440+31insAGGAGA
XM_005255531.4:c.4371+30_4371+31insAGGAGA	XP_005255588.2:n.4371+30_4371+31insAGGAGA
XM_011522636.2:c.4623+30_4623+31insAGGAGA	XP_011520938.1:n.4623+30_4623+31insAGGAGA
XM_011522637.2:c.4620+30_4620+31insAGGAGA	XP_011520939.1:n.4620+30_4620+31insAGGAGA
XM_011522638.2:c.4785+30_4785+31insAGGAGA	XP_011520940.2:n.4785+30_4785+31insAGGAGA
XM_011522639.2:c.4494+30_4494+31insAGGAGA	XP_011520941.1:n.4494+30_4494+31insAGGAGA
XM_011522640.2:c.4491+30_4491+31insAGGAGA	XP_011520942.1:n.4491+30_4491+31insAGGAGA
XM_017023615.1:c.4566+30_4566+31insAGGAGA	XP_016879104.1:n.4566+30_4566+31insAGGAGA
XM_017023616.1:c.4437+30_4437+31insAGGAGA	XP_016879105.1:n.4437+30_4437+31insAGGAGA
XM_017023617.1:c.4533+30_4533+31insAGGAGA	XP_016879106.1:n.4533+30_4533+31insAGGAGA
XM_017023618.1:c.3279+30_3279+31insAGGAGA	XP_016879107.1:n.3279+30_3279+31insAGGAGA
XM_024450413.1:c.4368+30_4368+31insAGGAGA	XP_024306181.1:n.4368+30_4368+31insAGGAGA
NM_000548.5:c.4569+30_4569+31insAGGAGA MANE Select	NP_000539.2:n.4569+30_4569+31insAGGAGA
NM_001370404.1:c.4437+30_4437+31insAGGAGA	NP_001357333.1:n.4437+30_4437+31insAGGAGA
NM_001370405.1:c.4440+30_4440+31insAGGAGA	NP_001357334.1:n.4440+30_4440+31insAGGAGA
NM_001077183.3:c.4368+30_4368+31insAGGAGA	NP_001070651.1:n.4368+30_4368+31insAGGAGA
NM_001114382.3:c.4500+30_4500+31insAGGAGA	NP_001107854.1:n.4500+30_4500+31insAGGAGA
NM_001318827.2:c.4260+30_4260+31insAGGAGA	NP_001305756.1:n.4260+30_4260+31insAGGAGA
NM_001318829.2:c.4224+30_4224+31insAGGAGA	NP_001305758.1:n.4224+30_4224+31insAGGAGA
NM_001318831.2:c.3837+30_3837+31insAGGAGA	NP_001305760.1:n.3837+30_3837+31insAGGAGA
NM_001318832.2:c.4401+30_4401+31insAGGAGA	NP_001305761.1:n.4401+30_4401+31insAGGAGA
NM_001363528.2:c.4371+30_4371+31insAGGAGA	NP_001350457.1:n.4371+30_4371+31insAGGAGA
NM_021055.3:c.4440+30_4440+31insAGGAGA	NP_066399.2:n.4440+30_4440+31insAGGAGA