Canonical Allele Identifier: CA014742

Gene: TSC2

Linked Data

• ClinVar Variation Id: 50195
• ClinVar RCV Id: RCV000043464 ; RCV000482403
• dbSNP Id: rs45481199
• MyVariant Identifiers: chr16:g.2113008T>G (hg19) ; chr16:g.2063007T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2063007T>G , CM000678.2:g.2063007T>G	GRCh38
NC_000016.9:g.2113008T>G , CM000678.1:g.2113008T>G	GRCh37
NC_000016.8:g.2053009T>G	NCBI36
NG_005895.1:g.18702T>G , LRG_487:g.18702T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.1361+407T>G	ENSP00000455997.2:n.1361+407T>G
ENST00000642206.2:c.1442T>G	ENSP00000495146.2:p.Leu481Arg
ENST00000642365.2:c.1397T>G	ENSP00000495459.2:p.Leu466Arg
ENST00000644417.2:c.*834T>G	ENSP00000493912.2:n.*834T>G
ENST00000646464.2:c.*1002T>G	ENSP00000496610.2:n.*1002T>G
ENST00000219476.9:c.1397T>G MANE Select	ENSP00000219476.3:p.Leu466Arg
ENST00000350773.9:c.1397T>G	ENSP00000344383.4:p.Leu466Arg
ENST00000401874.7:c.1397T>G	ENSP00000384468.2:p.Leu466Arg
ENST00000463601.2:n.307T>G
ENST00000467949.2:n.567T>G
ENST00000568454.6:c.1430T>G	ENSP00000454487.1:p.Leu477Arg
ENST00000642365.1:c.54T>G
ENST00000642561.1:c.1397T>G	ENSP00000495099.1:p.Leu466Arg
ENST00000642797.1:c.1397T>G	ENSP00000493846.1:p.Leu466Arg
ENST00000642812.1:n.1442T>G
ENST00000642936.1:c.1397T>G	ENSP00000494514.1:p.Leu466Arg
ENST00000643088.1:c.1397T>G	ENSP00000494747.1:p.Leu466Arg
ENST00000643149.1:n.3407T>G
ENST00000643298.1:c.*899T>G	ENSP00000494393.1:n.*899T>G
ENST00000643745.1:c.*329T>G	ENSP00000495948.1:n.*329T>G
ENST00000643946.1:c.1397T>G	ENSP00000495927.1:p.Leu466Arg
ENST00000644043.1:c.1397T>G	ENSP00000496262.1:p.Leu466Arg
ENST00000644135.1:c.1397T>G	ENSP00000495644.1:p.Leu466Arg
ENST00000644222.1:n.1484T>G
ENST00000644329.1:c.1397T>G	ENSP00000496611.1:p.Leu466Arg
ENST00000644335.1:c.1397T>G	ENSP00000496317.1:p.Leu466Arg
ENST00000644399.1:c.1390T>G
ENST00000644665.1:n.2571T>G
ENST00000644847.1:n.389T>G
ENST00000645591.1:n.2455T>G
ENST00000646388.1:c.1397T>G	ENSP00000495921.1:p.Leu466Arg
ENST00000646634.1:n.410T>G
ENST00000647234.1:n.3155T>G
ENST00000647242.1:n.2033T>G
ENST00000219476.7:c.1397T>G	ENSP00000219476.3:p.Leu466Arg
ENST00000350773.8:c.1397T>G	ENSP00000344383.4:p.Leu466Arg
ENST00000382538.10:c.1250T>G	ENSP00000371978.6:p.Leu417Arg
ENST00000401874.6:c.1397T>G	ENSP00000384468.2:p.Leu466Arg
ENST00000439117.6:c.*696T>G	ENSP00000406980.2:n.*696T>G
ENST00000439673.6:c.1286T>G	ENSP00000399232.2:p.Leu429Arg
ENST00000463601.1:n.560T>G
ENST00000467949.1:c.551T>G	ENSP00000454997.1:p.Leu184Arg
ENST00000490108.1:n.170T>G
ENST00000568454.5:c.1430T>G	ENSP00000454487.1:p.Leu477Arg
ENST00000568566.5:c.83+407T>G	ENSP00000455997.1:n.83+407T>G
NM_000548.3:c.1397T>G , LRG_487t1:c.1397T>G	NP_000539.2:p.Leu466Arg
NM_001077183.1:c.1397T>G	NP_001070651.1:p.Leu466Arg
NM_001114382.1:c.1397T>G	NP_001107854.1:p.Leu466Arg
XM_005255529.3:c.1397T>G	XP_005255586.2:p.Leu466Arg
XM_005255531.3:c.1397T>G	XP_005255588.2:p.Leu466Arg
XM_011522636.1:c.1397T>G	XP_011520938.1:p.Leu466Arg
XM_011522637.1:c.1397T>G	XP_011520939.1:p.Leu466Arg
XM_011522638.1:c.1286T>G	XP_011520940.1:p.Leu429Arg
XM_011522639.1:c.1397T>G	XP_011520941.1:p.Leu466Arg
XM_011522640.1:c.1397T>G	XP_011520942.1:p.Leu466Arg
XM_011522641.1:c.1286T>G	XP_011520943.1:p.Leu429Arg
NM_000548.4:c.1397T>G	NP_000539.2:p.Leu466Arg
NM_001077183.2:c.1397T>G	NP_001070651.1:p.Leu466Arg
NM_001114382.2:c.1397T>G	NP_001107854.1:p.Leu466Arg
NM_001318827.1:c.1286T>G	NP_001305756.1:p.Leu429Arg
NM_001318829.1:c.1250T>G	NP_001305758.1:p.Leu417Arg
NM_001318831.1:c.797T>G	NP_001305760.1:p.Leu266Arg
NM_001318832.1:c.1430T>G	NP_001305761.1:p.Leu477Arg
NM_001363528.1:c.1397T>G	NP_001350457.1:p.Leu466Arg
NM_021055.2:c.1397T>G	NP_066399.2:p.Leu466Arg
XM_005255531.4:c.1397T>G	XP_005255588.2:p.Leu466Arg
XM_011522636.2:c.1397T>G	XP_011520938.1:p.Leu466Arg
XM_011522637.2:c.1397T>G	XP_011520939.1:p.Leu466Arg
XM_011522638.2:c.1559T>G	XP_011520940.2:p.Leu520Arg
XM_011522639.2:c.1397T>G	XP_011520941.1:p.Leu466Arg
XM_011522640.2:c.1397T>G	XP_011520942.1:p.Leu466Arg
XM_017023615.1:c.1397T>G	XP_016879104.1:p.Leu466Arg
XM_017023616.1:c.1397T>G	XP_016879105.1:p.Leu466Arg
XM_017023617.1:c.1559T>G	XP_016879106.1:p.Leu520Arg
XM_017023618.1:c.53T>G	XP_016879107.1:p.Leu18Arg
XM_024450413.1:c.1397T>G	XP_024306181.1:p.Leu466Arg
NM_000548.5:c.1397T>G MANE Select	NP_000539.2:p.Leu466Arg
NM_001370404.1:c.1397T>G	NP_001357333.1:p.Leu466Arg
NM_001370405.1:c.1397T>G	NP_001357334.1:p.Leu466Arg
NM_001077183.3:c.1397T>G	NP_001070651.1:p.Leu466Arg
NM_001114382.3:c.1397T>G	NP_001107854.1:p.Leu466Arg
NM_001318827.2:c.1286T>G	NP_001305756.1:p.Leu429Arg
NM_001318829.2:c.1250T>G	NP_001305758.1:p.Leu417Arg
NM_001318831.2:c.797T>G	NP_001305760.1:p.Leu266Arg
NM_001318832.2:c.1430T>G	NP_001305761.1:p.Leu477Arg
NM_001363528.2:c.1397T>G	NP_001350457.1:p.Leu466Arg
NM_021055.3:c.1397T>G	NP_066399.2:p.Leu466Arg