Canonical Allele Identifier: CA2631130293

Gene: TSC2

Linked Data

• gnomAD v4: 16-2081649-ACAT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2081652_2081654del , CM000678.2:g.2081652_2081654del	GRCh38
NC_000016.9:g.2131653_2131655del , CM000678.1:g.2131653_2131655del	GRCh37
NC_000016.8:g.2071654_2071656del	NCBI36
NG_005895.1:g.37347_37349del , LRG_487:g.37347_37349del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2086_*2088del	ENSP00000455997.2:n.*2086_*2088del
ENST00000642206.2:c.3584_3586del	ENSP00000495146.2:p.Ile1195del
ENST00000642365.2:c.3665_3667del	ENSP00000495459.2:p.Ile1222del
ENST00000644417.2:c.*4117_*4119del	ENSP00000493912.2:n.*4117_*4119del
ENST00000646464.2:c.*4590_*4592del	ENSP00000496610.2:n.*4590_*4592del
ENST00000219476.9:c.3668_3670del MANE Select	ENSP00000219476.3:p.Ile1223del
ENST00000350773.9:c.3668_3670del	ENSP00000344383.4:p.Ile1223del
ENST00000401874.7:c.3536_3538del	ENSP00000384468.2:p.Ile1179del
ENST00000568454.6:c.3569_3571del	ENSP00000454487.1:p.Ile1190del
ENST00000642365.1:c.2322_2324del
ENST00000642561.1:c.3539_3541del	ENSP00000495099.1:p.Ile1180del
ENST00000642797.1:c.3539_3541del	ENSP00000493846.1:p.Ile1180del
ENST00000642936.1:c.3536_3538del	ENSP00000494514.1:p.Ile1179del
ENST00000643088.1:c.3536_3538del	ENSP00000494747.1:p.Ile1179del
ENST00000643426.1:n.1316_1318del
ENST00000643533.1:n.178_180del
ENST00000643946.1:c.3668_3670del	ENSP00000495927.1:p.Ile1223del
ENST00000644043.1:c.3539_3541del	ENSP00000496262.1:p.Ile1180del
ENST00000644329.1:c.3536_3538del	ENSP00000496611.1:p.Ile1179del
ENST00000644335.1:c.3539_3541del	ENSP00000496317.1:p.Ile1180del
ENST00000644399.1:c.3658_3660del
ENST00000644722.1:n.814_816del
ENST00000645024.1:n.1821_1823del
ENST00000646388.1:c.3668_3670del	ENSP00000495921.1:p.Ile1223del
ENST00000646634.1:n.2552_2554del
ENST00000646674.1:n.283_285del
ENST00000647042.1:n.960_962del
ENST00000647180.1:n.148_150del
ENST00000219476.7:c.3668_3670del	ENSP00000219476.3:p.Ile1223del
ENST00000350773.8:c.3668_3670del	ENSP00000344383.4:p.Ile1223del
ENST00000382538.10:c.3392_3394del	ENSP00000371978.6:p.Ile1131del
ENST00000401874.6:c.3536_3538del	ENSP00000384468.2:p.Ile1179del
ENST00000439117.6:c.*2835_*2837del	ENSP00000406980.2:n.*2835_*2837del
ENST00000439673.6:c.3428_3430del	ENSP00000399232.2:p.Ile1143del
ENST00000497886.5:n.1495_1497del
ENST00000568454.5:c.3569_3571del	ENSP00000454487.1:p.Ile1190del
NM_000548.3:c.3668_3670del , LRG_487t1:c.3668_3670del	NP_000539.2:p.Ile1223del
NM_001077183.1:c.3536_3538del	NP_001070651.1:p.Ile1179del
NM_001114382.1:c.3668_3670del	NP_001107854.1:p.Ile1223del
XM_005255529.3:c.3539_3541del	XP_005255586.2:p.Ile1180del
XM_005255531.3:c.3539_3541del	XP_005255588.2:p.Ile1180del
XM_011522636.1:c.3668_3670del	XP_011520938.1:p.Ile1223del
XM_011522637.1:c.3665_3667del	XP_011520939.1:p.Ile1222del
XM_011522638.1:c.3557_3559del	XP_011520940.1:p.Ile1186del
XM_011522639.1:c.3539_3541del	XP_011520941.1:p.Ile1180del
XM_011522640.1:c.3536_3538del	XP_011520942.1:p.Ile1179del
XM_011522641.1:c.3428_3430del	XP_011520943.1:p.Ile1143del
NM_000548.4:c.3668_3670del	NP_000539.2:p.Ile1223del
NM_001077183.2:c.3536_3538del	NP_001070651.1:p.Ile1179del
NM_001114382.2:c.3668_3670del	NP_001107854.1:p.Ile1223del
NM_001318827.1:c.3428_3430del	NP_001305756.1:p.Ile1143del
NM_001318829.1:c.3392_3394del	NP_001305758.1:p.Ile1131del
NM_001318831.1:c.2936_2938del	NP_001305760.1:p.Ile979del
NM_001318832.1:c.3569_3571del	NP_001305761.1:p.Ile1190del
NM_001363528.1:c.3539_3541del	NP_001350457.1:p.Ile1180del
NM_021055.2:c.3539_3541del	NP_066399.2:p.Ile1180del
XM_005255531.4:c.3539_3541del	XP_005255588.2:p.Ile1180del
XM_011522636.2:c.3668_3670del	XP_011520938.1:p.Ile1223del
XM_011522637.2:c.3665_3667del	XP_011520939.1:p.Ile1222del
XM_011522638.2:c.3830_3832del	XP_011520940.2:p.Ile1277del
XM_011522639.2:c.3539_3541del	XP_011520941.1:p.Ile1180del
XM_011522640.2:c.3536_3538del	XP_011520942.1:p.Ile1179del
XM_017023615.1:c.3665_3667del	XP_016879104.1:p.Ile1222del
XM_017023616.1:c.3536_3538del	XP_016879105.1:p.Ile1179del
XM_017023617.1:c.3701_3703del	XP_016879106.1:p.Ile1234del
XM_017023618.1:c.2324_2326del	XP_016879107.1:p.Ile775del
XM_024450413.1:c.3536_3538del	XP_024306181.1:p.Ile1179del
NM_000548.5:c.3668_3670del MANE Select	NP_000539.2:p.Ile1223del
NM_001370404.1:c.3536_3538del	NP_001357333.1:p.Ile1179del
NM_001370405.1:c.3539_3541del	NP_001357334.1:p.Ile1180del
NM_001077183.3:c.3536_3538del	NP_001070651.1:p.Ile1179del
NM_001114382.3:c.3668_3670del	NP_001107854.1:p.Ile1223del
NM_001318827.2:c.3428_3430del	NP_001305756.1:p.Ile1143del
NM_001318829.2:c.3392_3394del	NP_001305758.1:p.Ile1131del
NM_001318831.2:c.2936_2938del	NP_001305760.1:p.Ile979del
NM_001318832.2:c.3569_3571del	NP_001305761.1:p.Ile1190del
NM_001363528.2:c.3539_3541del	NP_001350457.1:p.Ile1180del
NM_021055.3:c.3539_3541del	NP_066399.2:p.Ile1180del