Canonical Allele Identifier: CA2631120667

Gene: TSC2

Linked Data

• gnomAD v4: 16-2085052-TCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2085053_2085054del , CM000678.2:g.2085053_2085054del	GRCh38
NC_000016.9:g.2135054_2135055del , CM000678.1:g.2135054_2135055del	GRCh37
NC_000016.8:g.2075055_2075056del	NCBI36
NG_005895.1:g.40748_40749del , LRG_487:g.40748_40749del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2918+27_*2918+28del	ENSP00000455997.2:n.*2918+27_*2918+28del
ENST00000642206.2:c.4416+27_4416+28del	ENSP00000495146.2:n.4416+27_4416+28del
ENST00000642365.2:c.4566+27_4566+28del	ENSP00000495459.2:n.4566+27_4566+28del
ENST00000644417.2:c.*4949+27_*4949+28del	ENSP00000493912.2:n.*4949+27_*4949+28del
ENST00000646464.2:c.*7318+27_*7318+28del	ENSP00000496610.2:n.*7318+27_*7318+28del
ENST00000219476.9:c.4569+27_4569+28del MANE Select	ENSP00000219476.3:n.4569+27_4569+28del
ENST00000350773.9:c.4500+27_4500+28del	ENSP00000344383.4:n.4500+27_4500+28del
ENST00000401874.7:c.4368+27_4368+28del	ENSP00000384468.2:n.4368+27_4368+28del
ENST00000568454.6:c.4401+27_4401+28del	ENSP00000454487.1:n.4401+27_4401+28del
ENST00000569110.2:c.792+27_792+28del
ENST00000569930.2:n.2451+27_2451+28del
ENST00000642365.1:c.3223+27_3223+28del
ENST00000642561.1:c.4440+27_4440+28del	ENSP00000495099.1:n.4440+27_4440+28del
ENST00000642728.1:n.751+27_751+28del
ENST00000642797.1:c.4371+27_4371+28del	ENSP00000493846.1:n.4371+27_4371+28del
ENST00000642936.1:c.4437+27_4437+28del	ENSP00000494514.1:n.4437+27_4437+28del
ENST00000643088.1:c.4368+27_4368+28del	ENSP00000494747.1:n.4368+27_4368+28del
ENST00000643177.1:n.583+27_583+28del
ENST00000643426.1:n.2217+27_2217+28del
ENST00000643946.1:c.4500+27_4500+28del	ENSP00000495927.1:n.4500+27_4500+28del
ENST00000644043.1:c.4440+27_4440+28del	ENSP00000496262.1:n.4440+27_4440+28del
ENST00000644329.1:c.4368+27_4368+28del	ENSP00000496611.1:n.4368+27_4368+28del
ENST00000644335.1:c.4371+27_4371+28del	ENSP00000496317.1:n.4371+27_4371+28del
ENST00000644399.1:c.4490+27_4490+28del
ENST00000645024.1:n.2653+27_2653+28del
ENST00000646388.1:c.4569+27_4569+28del	ENSP00000495921.1:n.4569+27_4569+28del
ENST00000646634.1:n.3384+27_3384+28del
ENST00000646674.1:n.1821+27_1821+28del
ENST00000647042.1:n.1792+27_1792+28del
ENST00000647180.1:n.1682+27_1682+28del
ENST00000219476.7:c.4569+27_4569+28del	ENSP00000219476.3:n.4569+27_4569+28del
ENST00000350773.8:c.4500+27_4500+28del	ENSP00000344383.4:n.4500+27_4500+28del
ENST00000382538.10:c.4224+27_4224+28del	ENSP00000371978.6:n.4224+27_4224+28del
ENST00000401874.6:c.4368+27_4368+28del	ENSP00000384468.2:n.4368+27_4368+28del
ENST00000439117.6:c.*3736+27_*3736+28del	ENSP00000406980.2:n.*3736+27_*3736+28del
ENST00000439673.6:c.4260+27_4260+28del	ENSP00000399232.2:n.4260+27_4260+28del
ENST00000497886.5:n.2327+27_2327+28del
ENST00000568454.5:c.4401+27_4401+28del	ENSP00000454487.1:n.4401+27_4401+28del
ENST00000569110.1:c.751+27_751+28del
ENST00000569930.1:n.1684+27_1684+28del
NM_000548.3:c.4569+27_4569+28del , LRG_487t1:c.4569+27_4569+28del	NP_000539.2:n.4569+27_4569+28del
NM_001077183.1:c.4368+27_4368+28del	NP_001070651.1:n.4368+27_4368+28del
NM_001114382.1:c.4500+27_4500+28del	NP_001107854.1:n.4500+27_4500+28del
XM_005255529.3:c.4440+27_4440+28del	XP_005255586.2:n.4440+27_4440+28del
XM_005255531.3:c.4371+27_4371+28del	XP_005255588.2:n.4371+27_4371+28del
XM_011522636.1:c.4623+27_4623+28del	XP_011520938.1:n.4623+27_4623+28del
XM_011522637.1:c.4620+27_4620+28del	XP_011520939.1:n.4620+27_4620+28del
XM_011522638.1:c.4512+27_4512+28del	XP_011520940.1:n.4512+27_4512+28del
XM_011522639.1:c.4494+27_4494+28del	XP_011520941.1:n.4494+27_4494+28del
XM_011522640.1:c.4491+27_4491+28del	XP_011520942.1:n.4491+27_4491+28del
XM_011522641.1:c.4260+27_4260+28del	XP_011520943.1:n.4260+27_4260+28del
NM_000548.4:c.4569+27_4569+28del	NP_000539.2:n.4569+27_4569+28del
NM_001077183.2:c.4368+27_4368+28del	NP_001070651.1:n.4368+27_4368+28del
NM_001114382.2:c.4500+27_4500+28del	NP_001107854.1:n.4500+27_4500+28del
NM_001318827.1:c.4260+27_4260+28del	NP_001305756.1:n.4260+27_4260+28del
NM_001318829.1:c.4224+27_4224+28del	NP_001305758.1:n.4224+27_4224+28del
NM_001318831.1:c.3837+27_3837+28del	NP_001305760.1:n.3837+27_3837+28del
NM_001318832.1:c.4401+27_4401+28del	NP_001305761.1:n.4401+27_4401+28del
NM_001363528.1:c.4371+27_4371+28del	NP_001350457.1:n.4371+27_4371+28del
NM_021055.2:c.4440+27_4440+28del	NP_066399.2:n.4440+27_4440+28del
XM_005255531.4:c.4371+27_4371+28del	XP_005255588.2:n.4371+27_4371+28del
XM_011522636.2:c.4623+27_4623+28del	XP_011520938.1:n.4623+27_4623+28del
XM_011522637.2:c.4620+27_4620+28del	XP_011520939.1:n.4620+27_4620+28del
XM_011522638.2:c.4785+27_4785+28del	XP_011520940.2:n.4785+27_4785+28del
XM_011522639.2:c.4494+27_4494+28del	XP_011520941.1:n.4494+27_4494+28del
XM_011522640.2:c.4491+27_4491+28del	XP_011520942.1:n.4491+27_4491+28del
XM_017023615.1:c.4566+27_4566+28del	XP_016879104.1:n.4566+27_4566+28del
XM_017023616.1:c.4437+27_4437+28del	XP_016879105.1:n.4437+27_4437+28del
XM_017023617.1:c.4533+27_4533+28del	XP_016879106.1:n.4533+27_4533+28del
XM_017023618.1:c.3279+27_3279+28del	XP_016879107.1:n.3279+27_3279+28del
XM_024450413.1:c.4368+27_4368+28del	XP_024306181.1:n.4368+27_4368+28del
NM_000548.5:c.4569+27_4569+28del MANE Select	NP_000539.2:n.4569+27_4569+28del
NM_001370404.1:c.4437+27_4437+28del	NP_001357333.1:n.4437+27_4437+28del
NM_001370405.1:c.4440+27_4440+28del	NP_001357334.1:n.4440+27_4440+28del
NM_001077183.3:c.4368+27_4368+28del	NP_001070651.1:n.4368+27_4368+28del
NM_001114382.3:c.4500+27_4500+28del	NP_001107854.1:n.4500+27_4500+28del
NM_001318827.2:c.4260+27_4260+28del	NP_001305756.1:n.4260+27_4260+28del
NM_001318829.2:c.4224+27_4224+28del	NP_001305758.1:n.4224+27_4224+28del
NM_001318831.2:c.3837+27_3837+28del	NP_001305760.1:n.3837+27_3837+28del
NM_001318832.2:c.4401+27_4401+28del	NP_001305761.1:n.4401+27_4401+28del
NM_001363528.2:c.4371+27_4371+28del	NP_001350457.1:n.4371+27_4371+28del
NM_021055.3:c.4440+27_4440+28del	NP_066399.2:n.4440+27_4440+28del