Canonical Allele Identifier: CA16615201

Gene: TSC2

Linked Data

• ClinVar Variation Id: 413754
• ClinVar RCV Id: RCV000464126
• dbSNP Id: rs1060504122
• gnomAD v2: 16-2138333-A-G
• gnomAD v4: 16-2088332-A-G
• MyVariant Identifiers: chr16:g.2138333A>G (hg19) ; chr16:g.2088332A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088332A>G , CM000678.2:g.2088332A>G	GRCh38
NC_000016.9:g.2138333A>G , CM000678.1:g.2138333A>G	GRCh37
NC_000016.8:g.2078334A>G	NCBI36
NG_005895.1:g.44027A>G , LRG_487:g.44027A>G
NG_008617.1:g.54889T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3608+7A>G	ENSP00000455997.2:n.*3608+7A>G
ENST00000642206.2:c.5106+7A>G	ENSP00000495146.2:n.5106+7A>G
ENST00000642365.2:c.5256+7A>G	ENSP00000495459.2:n.5256+7A>G
ENST00000644417.2:c.*5772+7A>G	ENSP00000493912.2:n.*5772+7A>G
ENST00000646464.2:c.*8008+7A>G	ENSP00000496610.2:n.*8008+7A>G
ENST00000219476.9:c.5259+7A>G MANE Select	ENSP00000219476.3:n.5259+7A>G
ENST00000350773.9:c.5190+7A>G	ENSP00000344383.4:n.5190+7A>G
ENST00000401874.7:c.5058+7A>G	ENSP00000384468.2:n.5058+7A>G
ENST00000568454.6:c.5091+7A>G	ENSP00000454487.1:n.5091+7A>G
ENST00000569110.2:c.1482+7A>G
ENST00000569930.2:n.3141+7A>G
ENST00000642365.1:c.3913+7A>G
ENST00000642561.1:c.5118+7A>G	ENSP00000495099.1:n.5118+7A>G
ENST00000642791.1:n.856+7A>G
ENST00000642797.1:c.5061+7A>G	ENSP00000493846.1:n.5061+7A>G
ENST00000642936.1:c.5127+7A>G	ENSP00000494514.1:n.5127+7A>G
ENST00000643088.1:c.5052+7A>G	ENSP00000494747.1:n.5052+7A>G
ENST00000643426.1:n.2907+7A>G
ENST00000643946.1:c.5184+7A>G	ENSP00000495927.1:n.5184+7A>G
ENST00000644043.1:c.5130+7A>G	ENSP00000496262.1:n.5130+7A>G
ENST00000644329.1:c.5145+7A>G	ENSP00000496611.1:n.5145+7A>G
ENST00000644335.1:c.5055+7A>G	ENSP00000496317.1:n.5055+7A>G
ENST00000644399.1:c.5180+7A>G
ENST00000645024.1:n.3343+7A>G
ENST00000646388.1:c.5253+7A>G	ENSP00000495921.1:n.5253+7A>G
ENST00000646634.1:n.4074+7A>G
ENST00000646674.1:n.2511+7A>G
ENST00000647042.1:n.2482+7A>G
ENST00000647180.1:n.2372+7A>G
ENST00000219476.7:c.5259+7A>G	ENSP00000219476.3:n.5259+7A>G
ENST00000350773.8:c.5190+7A>G	ENSP00000344383.4:n.5190+7A>G
ENST00000382538.10:c.4914+7A>G	ENSP00000371978.6:n.4914+7A>G
ENST00000401874.6:c.5058+7A>G	ENSP00000384468.2:n.5058+7A>G
ENST00000439117.6:c.*4426+7A>G	ENSP00000406980.2:n.*4426+7A>G
ENST00000439673.6:c.4950+7A>G	ENSP00000399232.2:n.4950+7A>G
ENST00000497886.5:n.2982+7A>G
ENST00000568454.5:c.5091+7A>G	ENSP00000454487.1:n.5091+7A>G
ENST00000569110.1:c.1441+7A>G
ENST00000569930.1:n.2374+7A>G
NM_000548.3:c.5259+7A>G , LRG_487t1:c.5259+7A>G	NP_000539.2:n.5259+7A>G
NM_001077183.1:c.5058+7A>G	NP_001070651.1:n.5058+7A>G
NM_001114382.1:c.5190+7A>G	NP_001107854.1:n.5190+7A>G
XM_005255529.3:c.5130+7A>G	XP_005255586.2:n.5130+7A>G
XM_005255531.3:c.5061+7A>G	XP_005255588.2:n.5061+7A>G
XM_011522636.1:c.5313+7A>G	XP_011520938.1:n.5313+7A>G
XM_011522637.1:c.5310+7A>G	XP_011520939.1:n.5310+7A>G
XM_011522638.1:c.5202+7A>G	XP_011520940.1:n.5202+7A>G
XM_011522639.1:c.5184+7A>G	XP_011520941.1:n.5184+7A>G
XM_011522640.1:c.5181+7A>G	XP_011520942.1:n.5181+7A>G
XM_011522641.1:c.4950+7A>G	XP_011520943.1:n.4950+7A>G
NM_000548.4:c.5259+7A>G	NP_000539.2:n.5259+7A>G
NM_001077183.2:c.5058+7A>G	NP_001070651.1:n.5058+7A>G
NM_001114382.2:c.5190+7A>G	NP_001107854.1:n.5190+7A>G
NM_001318827.1:c.4950+7A>G	NP_001305756.1:n.4950+7A>G
NM_001318829.1:c.4914+7A>G	NP_001305758.1:n.4914+7A>G
NM_001318831.1:c.4527+7A>G	NP_001305760.1:n.4527+7A>G
NM_001318832.1:c.5091+7A>G	NP_001305761.1:n.5091+7A>G
NM_001363528.1:c.5061+7A>G	NP_001350457.1:n.5061+7A>G
NM_021055.2:c.5130+7A>G	NP_066399.2:n.5130+7A>G
XM_005255531.4:c.5061+7A>G	XP_005255588.2:n.5061+7A>G
XM_011522636.2:c.5313+7A>G	XP_011520938.1:n.5313+7A>G
XM_011522637.2:c.5310+7A>G	XP_011520939.1:n.5310+7A>G
XM_011522638.2:c.5475+7A>G	XP_011520940.2:n.5475+7A>G
XM_011522639.2:c.5184+7A>G	XP_011520941.1:n.5184+7A>G
XM_011522640.2:c.5181+7A>G	XP_011520942.1:n.5181+7A>G
XM_017023615.1:c.5256+7A>G	XP_016879104.1:n.5256+7A>G
XM_017023616.1:c.5127+7A>G	XP_016879105.1:n.5127+7A>G
XM_017023617.1:c.5223+7A>G	XP_016879106.1:n.5223+7A>G
XM_017023618.1:c.3969+7A>G	XP_016879107.1:n.3969+7A>G
XM_024450413.1:c.5145+7A>G	XP_024306181.1:n.5145+7A>G
NM_000548.5:c.5259+7A>G MANE Select	NP_000539.2:n.5259+7A>G
NM_001370404.1:c.5127+7A>G	NP_001357333.1:n.5127+7A>G
NM_001370405.1:c.5118+7A>G	NP_001357334.1:n.5118+7A>G
NM_001077183.3:c.5058+7A>G	NP_001070651.1:n.5058+7A>G
NM_001114382.3:c.5190+7A>G	NP_001107854.1:n.5190+7A>G
NM_001318827.2:c.4950+7A>G	NP_001305756.1:n.4950+7A>G
NM_001318829.2:c.4914+7A>G	NP_001305758.1:n.4914+7A>G
NM_001318831.2:c.4527+7A>G	NP_001305760.1:n.4527+7A>G
NM_001318832.2:c.5091+7A>G	NP_001305761.1:n.5091+7A>G
NM_001363528.2:c.5061+7A>G	NP_001350457.1:n.5061+7A>G
NM_021055.3:c.5130+7A>G	NP_066399.2:n.5130+7A>G