Canonical Allele Identifier: CA2631120642

Gene: TSC2

Linked Data

• gnomAD v4: 16-2085047-C-CAGCGGA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2085047_2085048insAGCGGA , CM000678.2:g.2085047_2085048insAGCGGA	GRCh38
NC_000016.9:g.2135048_2135049insAGCGGA , CM000678.1:g.2135048_2135049insAGCGGA	GRCh37
NC_000016.8:g.2075049_2075050insAGCGGA	NCBI36
NG_005895.1:g.40742_40743insAGCGGA , LRG_487:g.40742_40743insAGCGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2918+21_*2918+22insAGCGGA	ENSP00000455997.2:n.*2918+21_*2918+22insAGCGGA
ENST00000642206.2:c.4416+21_4416+22insAGCGGA	ENSP00000495146.2:n.4416+21_4416+22insAGCGGA
ENST00000642365.2:c.4566+21_4566+22insAGCGGA	ENSP00000495459.2:n.4566+21_4566+22insAGCGGA
ENST00000644417.2:c.*4949+21_*4949+22insAGCGGA	ENSP00000493912.2:n.*4949+21_*4949+22insAGCGGA
ENST00000646464.2:c.*7318+21_*7318+22insAGCGGA	ENSP00000496610.2:n.*7318+21_*7318+22insAGCGGA
ENST00000219476.9:c.4569+21_4569+22insAGCGGA MANE Select	ENSP00000219476.3:n.4569+21_4569+22insAGCGGA
ENST00000350773.9:c.4500+21_4500+22insAGCGGA	ENSP00000344383.4:n.4500+21_4500+22insAGCGGA
ENST00000401874.7:c.4368+21_4368+22insAGCGGA	ENSP00000384468.2:n.4368+21_4368+22insAGCGGA
ENST00000568454.6:c.4401+21_4401+22insAGCGGA	ENSP00000454487.1:n.4401+21_4401+22insAGCGGA
ENST00000569110.2:c.792+21_792+22insAGCGGA
ENST00000569930.2:n.2451+21_2451+22insAGCGGA
ENST00000642365.1:c.3223+21_3223+22insAGCGGA
ENST00000642561.1:c.4440+21_4440+22insAGCGGA	ENSP00000495099.1:n.4440+21_4440+22insAGCGGA
ENST00000642728.1:n.751+21_751+22insAGCGGA
ENST00000642797.1:c.4371+21_4371+22insAGCGGA	ENSP00000493846.1:n.4371+21_4371+22insAGCGGA
ENST00000642936.1:c.4437+21_4437+22insAGCGGA	ENSP00000494514.1:n.4437+21_4437+22insAGCGGA
ENST00000643088.1:c.4368+21_4368+22insAGCGGA	ENSP00000494747.1:n.4368+21_4368+22insAGCGGA
ENST00000643177.1:n.583+21_583+22insAGCGGA
ENST00000643426.1:n.2217+21_2217+22insAGCGGA
ENST00000643946.1:c.4500+21_4500+22insAGCGGA	ENSP00000495927.1:n.4500+21_4500+22insAGCGGA
ENST00000644043.1:c.4440+21_4440+22insAGCGGA	ENSP00000496262.1:n.4440+21_4440+22insAGCGGA
ENST00000644329.1:c.4368+21_4368+22insAGCGGA	ENSP00000496611.1:n.4368+21_4368+22insAGCGGA
ENST00000644335.1:c.4371+21_4371+22insAGCGGA	ENSP00000496317.1:n.4371+21_4371+22insAGCGGA
ENST00000644399.1:c.4490+21_4490+22insAGCGGA
ENST00000645024.1:n.2653+21_2653+22insAGCGGA
ENST00000646388.1:c.4569+21_4569+22insAGCGGA	ENSP00000495921.1:n.4569+21_4569+22insAGCGGA
ENST00000646634.1:n.3384+21_3384+22insAGCGGA
ENST00000646674.1:n.1821+21_1821+22insAGCGGA
ENST00000647042.1:n.1792+21_1792+22insAGCGGA
ENST00000647180.1:n.1682+21_1682+22insAGCGGA
ENST00000219476.7:c.4569+21_4569+22insAGCGGA	ENSP00000219476.3:n.4569+21_4569+22insAGCGGA
ENST00000350773.8:c.4500+21_4500+22insAGCGGA	ENSP00000344383.4:n.4500+21_4500+22insAGCGGA
ENST00000382538.10:c.4224+21_4224+22insAGCGGA	ENSP00000371978.6:n.4224+21_4224+22insAGCGGA
ENST00000401874.6:c.4368+21_4368+22insAGCGGA	ENSP00000384468.2:n.4368+21_4368+22insAGCGGA
ENST00000439117.6:c.*3736+21_*3736+22insAGCGGA	ENSP00000406980.2:n.*3736+21_*3736+22insAGCGGA
ENST00000439673.6:c.4260+21_4260+22insAGCGGA	ENSP00000399232.2:n.4260+21_4260+22insAGCGGA
ENST00000497886.5:n.2327+21_2327+22insAGCGGA
ENST00000568454.5:c.4401+21_4401+22insAGCGGA	ENSP00000454487.1:n.4401+21_4401+22insAGCGGA
ENST00000569110.1:c.751+21_751+22insAGCGGA
ENST00000569930.1:n.1684+21_1684+22insAGCGGA
NM_000548.3:c.4569+21_4569+22insAGCGGA , LRG_487t1:c.4569+21_4569+22insAGCGGA	NP_000539.2:n.4569+21_4569+22insAGCGGA
NM_001077183.1:c.4368+21_4368+22insAGCGGA	NP_001070651.1:n.4368+21_4368+22insAGCGGA
NM_001114382.1:c.4500+21_4500+22insAGCGGA	NP_001107854.1:n.4500+21_4500+22insAGCGGA
XM_005255529.3:c.4440+21_4440+22insAGCGGA	XP_005255586.2:n.4440+21_4440+22insAGCGGA
XM_005255531.3:c.4371+21_4371+22insAGCGGA	XP_005255588.2:n.4371+21_4371+22insAGCGGA
XM_011522636.1:c.4623+21_4623+22insAGCGGA	XP_011520938.1:n.4623+21_4623+22insAGCGGA
XM_011522637.1:c.4620+21_4620+22insAGCGGA	XP_011520939.1:n.4620+21_4620+22insAGCGGA
XM_011522638.1:c.4512+21_4512+22insAGCGGA	XP_011520940.1:n.4512+21_4512+22insAGCGGA
XM_011522639.1:c.4494+21_4494+22insAGCGGA	XP_011520941.1:n.4494+21_4494+22insAGCGGA
XM_011522640.1:c.4491+21_4491+22insAGCGGA	XP_011520942.1:n.4491+21_4491+22insAGCGGA
XM_011522641.1:c.4260+21_4260+22insAGCGGA	XP_011520943.1:n.4260+21_4260+22insAGCGGA
NM_000548.4:c.4569+21_4569+22insAGCGGA	NP_000539.2:n.4569+21_4569+22insAGCGGA
NM_001077183.2:c.4368+21_4368+22insAGCGGA	NP_001070651.1:n.4368+21_4368+22insAGCGGA
NM_001114382.2:c.4500+21_4500+22insAGCGGA	NP_001107854.1:n.4500+21_4500+22insAGCGGA
NM_001318827.1:c.4260+21_4260+22insAGCGGA	NP_001305756.1:n.4260+21_4260+22insAGCGGA
NM_001318829.1:c.4224+21_4224+22insAGCGGA	NP_001305758.1:n.4224+21_4224+22insAGCGGA
NM_001318831.1:c.3837+21_3837+22insAGCGGA	NP_001305760.1:n.3837+21_3837+22insAGCGGA
NM_001318832.1:c.4401+21_4401+22insAGCGGA	NP_001305761.1:n.4401+21_4401+22insAGCGGA
NM_001363528.1:c.4371+21_4371+22insAGCGGA	NP_001350457.1:n.4371+21_4371+22insAGCGGA
NM_021055.2:c.4440+21_4440+22insAGCGGA	NP_066399.2:n.4440+21_4440+22insAGCGGA
XM_005255531.4:c.4371+21_4371+22insAGCGGA	XP_005255588.2:n.4371+21_4371+22insAGCGGA
XM_011522636.2:c.4623+21_4623+22insAGCGGA	XP_011520938.1:n.4623+21_4623+22insAGCGGA
XM_011522637.2:c.4620+21_4620+22insAGCGGA	XP_011520939.1:n.4620+21_4620+22insAGCGGA
XM_011522638.2:c.4785+21_4785+22insAGCGGA	XP_011520940.2:n.4785+21_4785+22insAGCGGA
XM_011522639.2:c.4494+21_4494+22insAGCGGA	XP_011520941.1:n.4494+21_4494+22insAGCGGA
XM_011522640.2:c.4491+21_4491+22insAGCGGA	XP_011520942.1:n.4491+21_4491+22insAGCGGA
XM_017023615.1:c.4566+21_4566+22insAGCGGA	XP_016879104.1:n.4566+21_4566+22insAGCGGA
XM_017023616.1:c.4437+21_4437+22insAGCGGA	XP_016879105.1:n.4437+21_4437+22insAGCGGA
XM_017023617.1:c.4533+21_4533+22insAGCGGA	XP_016879106.1:n.4533+21_4533+22insAGCGGA
XM_017023618.1:c.3279+21_3279+22insAGCGGA	XP_016879107.1:n.3279+21_3279+22insAGCGGA
XM_024450413.1:c.4368+21_4368+22insAGCGGA	XP_024306181.1:n.4368+21_4368+22insAGCGGA
NM_000548.5:c.4569+21_4569+22insAGCGGA MANE Select	NP_000539.2:n.4569+21_4569+22insAGCGGA
NM_001370404.1:c.4437+21_4437+22insAGCGGA	NP_001357333.1:n.4437+21_4437+22insAGCGGA
NM_001370405.1:c.4440+21_4440+22insAGCGGA	NP_001357334.1:n.4440+21_4440+22insAGCGGA
NM_001077183.3:c.4368+21_4368+22insAGCGGA	NP_001070651.1:n.4368+21_4368+22insAGCGGA
NM_001114382.3:c.4500+21_4500+22insAGCGGA	NP_001107854.1:n.4500+21_4500+22insAGCGGA
NM_001318827.2:c.4260+21_4260+22insAGCGGA	NP_001305756.1:n.4260+21_4260+22insAGCGGA
NM_001318829.2:c.4224+21_4224+22insAGCGGA	NP_001305758.1:n.4224+21_4224+22insAGCGGA
NM_001318831.2:c.3837+21_3837+22insAGCGGA	NP_001305760.1:n.3837+21_3837+22insAGCGGA
NM_001318832.2:c.4401+21_4401+22insAGCGGA	NP_001305761.1:n.4401+21_4401+22insAGCGGA
NM_001363528.2:c.4371+21_4371+22insAGCGGA	NP_001350457.1:n.4371+21_4371+22insAGCGGA
NM_021055.3:c.4440+21_4440+22insAGCGGA	NP_066399.2:n.4440+21_4440+22insAGCGGA