Canonical Allele Identifier: CA718905396

Gene: TSC2

Linked Data

• dbSNP Id: rs1412981528
• gnomAD v3: 16-2088356-GTGCTGGC-G
• gnomAD v4: 16-2088356-GTGCTGGC-G
• MyVariant Identifiers: chr16:g.2138358_2138364del (hg19) ; chr16:g.2088357_2088363del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088360_2088366del , CM000678.2:g.2088360_2088366del	GRCh38
NC_000016.9:g.2138361_2138367del , CM000678.1:g.2138361_2138367del	GRCh37
NC_000016.8:g.2078362_2078368del	NCBI36
NG_005895.1:g.44055_44061del , LRG_487:g.44055_44061del
NG_008617.1:g.54858_54864del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3608+35_*3608+41del	ENSP00000455997.2:n.*3608+35_*3608+41del
ENST00000642206.2:c.5106+35_5106+41del	ENSP00000495146.2:n.5106+35_5106+41del
ENST00000642365.2:c.5256+35_5256+41del	ENSP00000495459.2:n.5256+35_5256+41del
ENST00000644417.2:c.*5772+35_*5772+41del	ENSP00000493912.2:n.*5772+35_*5772+41del
ENST00000646464.2:c.*8008+35_*8008+41del	ENSP00000496610.2:n.*8008+35_*8008+41del
ENST00000219476.9:c.5259+35_5259+41del MANE Select	ENSP00000219476.3:n.5259+35_5259+41del
ENST00000350773.9:c.5190+35_5190+41del	ENSP00000344383.4:n.5190+35_5190+41del
ENST00000401874.7:c.5058+35_5058+41del	ENSP00000384468.2:n.5058+35_5058+41del
ENST00000568454.6:c.5091+35_5091+41del	ENSP00000454487.1:n.5091+35_5091+41del
ENST00000569110.2:c.1482+35_1482+41del
ENST00000569930.2:n.3141+35_3141+41del
ENST00000642365.1:c.3913+35_3913+41del
ENST00000642561.1:c.5118+35_5118+41del	ENSP00000495099.1:n.5118+35_5118+41del
ENST00000642791.1:n.856+35_856+41del
ENST00000642797.1:c.5061+35_5061+41del	ENSP00000493846.1:n.5061+35_5061+41del
ENST00000642936.1:c.5127+35_5127+41del	ENSP00000494514.1:n.5127+35_5127+41del
ENST00000643088.1:c.5052+35_5052+41del	ENSP00000494747.1:n.5052+35_5052+41del
ENST00000643426.1:n.2907+35_2907+41del
ENST00000643946.1:c.5184+35_5184+41del	ENSP00000495927.1:n.5184+35_5184+41del
ENST00000644043.1:c.5130+35_5130+41del	ENSP00000496262.1:n.5130+35_5130+41del
ENST00000644329.1:c.5145+35_5145+41del	ENSP00000496611.1:n.5145+35_5145+41del
ENST00000644335.1:c.5055+35_5055+41del	ENSP00000496317.1:n.5055+35_5055+41del
ENST00000644399.1:c.5180+35_5180+41del
ENST00000645024.1:n.3343+35_3343+41del
ENST00000646388.1:c.5253+35_5253+41del	ENSP00000495921.1:n.5253+35_5253+41del
ENST00000646634.1:n.4074+35_4074+41del
ENST00000646674.1:n.2511+35_2511+41del
ENST00000647042.1:n.2482+35_2482+41del
ENST00000647180.1:n.2372+35_2372+41del
ENST00000219476.7:c.5259+35_5259+41del	ENSP00000219476.3:n.5259+35_5259+41del
ENST00000350773.8:c.5190+35_5190+41del	ENSP00000344383.4:n.5190+35_5190+41del
ENST00000382538.10:c.4914+35_4914+41del	ENSP00000371978.6:n.4914+35_4914+41del
ENST00000401874.6:c.5058+35_5058+41del	ENSP00000384468.2:n.5058+35_5058+41del
ENST00000439117.6:c.*4426+35_*4426+41del	ENSP00000406980.2:n.*4426+35_*4426+41del
ENST00000439673.6:c.4950+35_4950+41del	ENSP00000399232.2:n.4950+35_4950+41del
ENST00000497886.5:n.2982+35_2982+41del
ENST00000568454.5:c.5091+35_5091+41del	ENSP00000454487.1:n.5091+35_5091+41del
ENST00000569110.1:c.1441+35_1441+41del
ENST00000569930.1:n.2374+35_2374+41del
NM_000548.3:c.5259+35_5259+41del , LRG_487t1:c.5259+35_5259+41del	NP_000539.2:n.5259+35_5259+41del
NM_001077183.1:c.5058+35_5058+41del	NP_001070651.1:n.5058+35_5058+41del
NM_001114382.1:c.5190+35_5190+41del	NP_001107854.1:n.5190+35_5190+41del
XM_005255529.3:c.5130+35_5130+41del	XP_005255586.2:n.5130+35_5130+41del
XM_005255531.3:c.5061+35_5061+41del	XP_005255588.2:n.5061+35_5061+41del
XM_011522636.1:c.5313+35_5313+41del	XP_011520938.1:n.5313+35_5313+41del
XM_011522637.1:c.5310+35_5310+41del	XP_011520939.1:n.5310+35_5310+41del
XM_011522638.1:c.5202+35_5202+41del	XP_011520940.1:n.5202+35_5202+41del
XM_011522639.1:c.5184+35_5184+41del	XP_011520941.1:n.5184+35_5184+41del
XM_011522640.1:c.5181+35_5181+41del	XP_011520942.1:n.5181+35_5181+41del
XM_011522641.1:c.4950+35_4950+41del	XP_011520943.1:n.4950+35_4950+41del
NM_000548.4:c.5259+35_5259+41del	NP_000539.2:n.5259+35_5259+41del
NM_001077183.2:c.5058+35_5058+41del	NP_001070651.1:n.5058+35_5058+41del
NM_001114382.2:c.5190+35_5190+41del	NP_001107854.1:n.5190+35_5190+41del
NM_001318827.1:c.4950+35_4950+41del	NP_001305756.1:n.4950+35_4950+41del
NM_001318829.1:c.4914+35_4914+41del	NP_001305758.1:n.4914+35_4914+41del
NM_001318831.1:c.4527+35_4527+41del	NP_001305760.1:n.4527+35_4527+41del
NM_001318832.1:c.5091+35_5091+41del	NP_001305761.1:n.5091+35_5091+41del
NM_001363528.1:c.5061+35_5061+41del	NP_001350457.1:n.5061+35_5061+41del
NM_021055.2:c.5130+35_5130+41del	NP_066399.2:n.5130+35_5130+41del
XM_005255531.4:c.5061+35_5061+41del	XP_005255588.2:n.5061+35_5061+41del
XM_011522636.2:c.5313+35_5313+41del	XP_011520938.1:n.5313+35_5313+41del
XM_011522637.2:c.5310+35_5310+41del	XP_011520939.1:n.5310+35_5310+41del
XM_011522638.2:c.5475+35_5475+41del	XP_011520940.2:n.5475+35_5475+41del
XM_011522639.2:c.5184+35_5184+41del	XP_011520941.1:n.5184+35_5184+41del
XM_011522640.2:c.5181+35_5181+41del	XP_011520942.1:n.5181+35_5181+41del
XM_017023615.1:c.5256+35_5256+41del	XP_016879104.1:n.5256+35_5256+41del
XM_017023616.1:c.5127+35_5127+41del	XP_016879105.1:n.5127+35_5127+41del
XM_017023617.1:c.5223+35_5223+41del	XP_016879106.1:n.5223+35_5223+41del
XM_017023618.1:c.3969+35_3969+41del	XP_016879107.1:n.3969+35_3969+41del
XM_024450413.1:c.5145+35_5145+41del	XP_024306181.1:n.5145+35_5145+41del
NM_000548.5:c.5259+35_5259+41del MANE Select	NP_000539.2:n.5259+35_5259+41del
NM_001370404.1:c.5127+35_5127+41del	NP_001357333.1:n.5127+35_5127+41del
NM_001370405.1:c.5118+35_5118+41del	NP_001357334.1:n.5118+35_5118+41del
NM_001077183.3:c.5058+35_5058+41del	NP_001070651.1:n.5058+35_5058+41del
NM_001114382.3:c.5190+35_5190+41del	NP_001107854.1:n.5190+35_5190+41del
NM_001318827.2:c.4950+35_4950+41del	NP_001305756.1:n.4950+35_4950+41del
NM_001318829.2:c.4914+35_4914+41del	NP_001305758.1:n.4914+35_4914+41del
NM_001318831.2:c.4527+35_4527+41del	NP_001305760.1:n.4527+35_4527+41del
NM_001318832.2:c.5091+35_5091+41del	NP_001305761.1:n.5091+35_5091+41del
NM_001363528.2:c.5061+35_5061+41del	NP_001350457.1:n.5061+35_5061+41del
NM_021055.3:c.5130+35_5130+41del	NP_066399.2:n.5130+35_5130+41del