Canonical Allele Identifier: CA620705083

Gene: TSC2

Linked Data

• dbSNP Id: rs1567132953
• gnomAD v2: 16-2138377-G-GGGGCGGGTGTGTGGGCA
• gnomAD v4: 16-2088376-G-GGGGCGGGTGTGTGGGCA
• MyVariant Identifiers: chr16:g.2138377_2138378insGGGCGGGTGTGTGGGCA (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088378_2088394dup , CM000678.2:g.2088378_2088394dup	GRCh38
NC_000016.9:g.2138379_2138395dup , CM000678.1:g.2138379_2138395dup	GRCh37
NC_000016.8:g.2078380_2078396dup	NCBI36
NG_005895.1:g.44073_44089dup , LRG_487:g.44073_44089dup
NG_008617.1:g.54828_54844dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3608+53_*3609-52dup	ENSP00000455997.2:n.*3608+53_*3609-52dup
ENST00000642206.2:c.5106+53_5107-52dup	ENSP00000495146.2:n.5106+53_5107-52dup
ENST00000642365.2:c.5256+53_5257-52dup	ENSP00000495459.2:n.5256+53_5257-52dup
ENST00000644417.2:c.*5772+53_*5773-52dup	ENSP00000493912.2:n.*5772+53_*5773-52dup
ENST00000646464.2:c.*8008+53_*8009-52dup	ENSP00000496610.2:n.*8008+53_*8009-52dup
ENST00000219476.9:c.5259+53_5260-52dup MANE Select	ENSP00000219476.3:n.5259+53_5260-52dup
ENST00000350773.9:c.5190+53_5191-52dup	ENSP00000344383.4:n.5190+53_5191-52dup
ENST00000401874.7:c.5058+53_5059-52dup	ENSP00000384468.2:n.5058+53_5059-52dup
ENST00000568454.6:c.5091+53_5092-52dup	ENSP00000454487.1:n.5091+53_5092-52dup
ENST00000569110.2:c.1482+53_1483-52dup
ENST00000569930.2:n.3141+53_3142-52dup
ENST00000642365.1:c.3913+53_3914-52dup
ENST00000642561.1:c.5118+53_5119-52dup	ENSP00000495099.1:n.5118+53_5119-52dup
ENST00000642791.1:n.856+53_857-52dup
ENST00000642797.1:c.5061+53_5062-52dup	ENSP00000493846.1:n.5061+53_5062-52dup
ENST00000642936.1:c.5127+53_5128-52dup	ENSP00000494514.1:n.5127+53_5128-52dup
ENST00000643088.1:c.5052+53_5053-52dup	ENSP00000494747.1:n.5052+53_5053-52dup
ENST00000643426.1:n.2907+53_2908-52dup
ENST00000643946.1:c.5184+53_5185-52dup	ENSP00000495927.1:n.5184+53_5185-52dup
ENST00000644043.1:c.5130+53_5131-52dup	ENSP00000496262.1:n.5130+53_5131-52dup
ENST00000644329.1:c.5145+53_5146-52dup	ENSP00000496611.1:n.5145+53_5146-52dup
ENST00000644335.1:c.5055+53_5056-52dup	ENSP00000496317.1:n.5055+53_5056-52dup
ENST00000644399.1:c.5180+53_5181-52dup
ENST00000645024.1:n.3343+53_3344-52dup
ENST00000646388.1:c.5253+53_5254-52dup	ENSP00000495921.1:n.5253+53_5254-52dup
ENST00000646634.1:n.4074+53_4075-52dup
ENST00000646674.1:n.2511+53_2512-52dup
ENST00000647042.1:n.2482+53_2483-52dup
ENST00000647180.1:n.2372+53_2373-52dup
ENST00000219476.7:c.5259+53_5260-52dup	ENSP00000219476.3:n.5259+53_5260-52dup
ENST00000350773.8:c.5190+53_5191-52dup	ENSP00000344383.4:n.5190+53_5191-52dup
ENST00000382538.10:c.4914+53_4915-52dup	ENSP00000371978.6:n.4914+53_4915-52dup
ENST00000401874.6:c.5058+53_5059-52dup	ENSP00000384468.2:n.5058+53_5059-52dup
ENST00000439117.6:c.*4426+53_*4427-52dup	ENSP00000406980.2:n.*4426+53_*4427-52dup
ENST00000439673.6:c.4950+53_4951-52dup	ENSP00000399232.2:n.4950+53_4951-52dup
ENST00000497886.5:n.2982+53_2983-52dup
ENST00000568454.5:c.5091+53_5092-52dup	ENSP00000454487.1:n.5091+53_5092-52dup
ENST00000569110.1:c.1441+53_1442-52dup
ENST00000569930.1:n.2374+53_2375-52dup
NM_000548.3:c.5259+53_5260-52dup , LRG_487t1:c.5259+53_5260-52dup	NP_000539.2:n.5259+53_5260-52dup
NM_001077183.1:c.5058+53_5059-52dup	NP_001070651.1:n.5058+53_5059-52dup
NM_001114382.1:c.5190+53_5191-52dup	NP_001107854.1:n.5190+53_5191-52dup
XM_005255529.3:c.5130+53_5131-52dup	XP_005255586.2:n.5130+53_5131-52dup
XM_005255531.3:c.5061+53_5062-52dup	XP_005255588.2:n.5061+53_5062-52dup
XM_011522636.1:c.5313+53_5314-52dup	XP_011520938.1:n.5313+53_5314-52dup
XM_011522637.1:c.5310+53_5311-52dup	XP_011520939.1:n.5310+53_5311-52dup
XM_011522638.1:c.5202+53_5203-52dup	XP_011520940.1:n.5202+53_5203-52dup
XM_011522639.1:c.5184+53_5185-52dup	XP_011520941.1:n.5184+53_5185-52dup
XM_011522640.1:c.5181+53_5182-52dup	XP_011520942.1:n.5181+53_5182-52dup
XM_011522641.1:c.4950+53_4951-52dup	XP_011520943.1:n.4950+53_4951-52dup
NM_000548.4:c.5259+53_5260-52dup	NP_000539.2:n.5259+53_5260-52dup
NM_001077183.2:c.5058+53_5059-52dup	NP_001070651.1:n.5058+53_5059-52dup
NM_001114382.2:c.5190+53_5191-52dup	NP_001107854.1:n.5190+53_5191-52dup
NM_001318827.1:c.4950+53_4951-52dup	NP_001305756.1:n.4950+53_4951-52dup
NM_001318829.1:c.4914+53_4915-52dup	NP_001305758.1:n.4914+53_4915-52dup
NM_001318831.1:c.4527+53_4528-52dup	NP_001305760.1:n.4527+53_4528-52dup
NM_001318832.1:c.5091+53_5092-52dup	NP_001305761.1:n.5091+53_5092-52dup
NM_001363528.1:c.5061+53_5062-52dup	NP_001350457.1:n.5061+53_5062-52dup
NM_021055.2:c.5130+53_5131-52dup	NP_066399.2:n.5130+53_5131-52dup
XM_005255531.4:c.5061+53_5062-52dup	XP_005255588.2:n.5061+53_5062-52dup
XM_011522636.2:c.5313+53_5314-52dup	XP_011520938.1:n.5313+53_5314-52dup
XM_011522637.2:c.5310+53_5311-52dup	XP_011520939.1:n.5310+53_5311-52dup
XM_011522638.2:c.5475+53_5476-52dup	XP_011520940.2:n.5475+53_5476-52dup
XM_011522639.2:c.5184+53_5185-52dup	XP_011520941.1:n.5184+53_5185-52dup
XM_011522640.2:c.5181+53_5182-52dup	XP_011520942.1:n.5181+53_5182-52dup
XM_017023615.1:c.5256+53_5257-52dup	XP_016879104.1:n.5256+53_5257-52dup
XM_017023616.1:c.5127+53_5128-52dup	XP_016879105.1:n.5127+53_5128-52dup
XM_017023617.1:c.5223+53_5224-52dup	XP_016879106.1:n.5223+53_5224-52dup
XM_017023618.1:c.3969+53_3970-52dup	XP_016879107.1:n.3969+53_3970-52dup
XM_024450413.1:c.5145+53_5146-52dup	XP_024306181.1:n.5145+53_5146-52dup
NM_000548.5:c.5259+53_5260-52dup MANE Select	NP_000539.2:n.5259+53_5260-52dup
NM_001370404.1:c.5127+53_5128-52dup	NP_001357333.1:n.5127+53_5128-52dup
NM_001370405.1:c.5118+53_5119-52dup	NP_001357334.1:n.5118+53_5119-52dup
NM_001077183.3:c.5058+53_5059-52dup	NP_001070651.1:n.5058+53_5059-52dup
NM_001114382.3:c.5190+53_5191-52dup	NP_001107854.1:n.5190+53_5191-52dup
NM_001318827.2:c.4950+53_4951-52dup	NP_001305756.1:n.4950+53_4951-52dup
NM_001318829.2:c.4914+53_4915-52dup	NP_001305758.1:n.4914+53_4915-52dup
NM_001318831.2:c.4527+53_4528-52dup	NP_001305760.1:n.4527+53_4528-52dup
NM_001318832.2:c.5091+53_5092-52dup	NP_001305761.1:n.5091+53_5092-52dup
NM_001363528.2:c.5061+53_5062-52dup	NP_001350457.1:n.5061+53_5062-52dup
NM_021055.3:c.5130+53_5131-52dup	NP_066399.2:n.5130+53_5131-52dup