Canonical Allele Identifier: CA015123

Gene: TSC2

Linked Data

• ClinVar Variation Id: 49682
• ClinVar RCV Id: RCV000042944
• dbSNP Id: rs137854246
• MyVariant Identifiers: chr16:g.2114406_2114409del (hg19) ; chr16:g.2064405_2064408del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2064407_2064410del , CM000678.2:g.2064407_2064410del	GRCh38
NC_000016.9:g.2114408_2114411del , CM000678.1:g.2114408_2114411del	GRCh37
NC_000016.8:g.2054409_2054412del	NCBI36
NG_005895.1:g.20102_20105del , LRG_487:g.20102_20105del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*126_*129del	ENSP00000455997.2:n.*126_*129del
ENST00000642206.2:c.1624_1627del	ENSP00000495146.2:p.Leu542TrpfsTer7
ENST00000642365.2:c.1579_1582del	ENSP00000495459.2:p.Leu527TrpfsTer7
ENST00000644417.2:c.*1016_*1019del	ENSP00000493912.2:n.*1016_*1019del
ENST00000646464.2:c.*1184_*1187del	ENSP00000496610.2:n.*1184_*1187del
ENST00000219476.9:c.1579_1582del MANE Select	ENSP00000219476.3:p.Leu527TrpfsTer7
ENST00000350773.9:c.1579_1582del	ENSP00000344383.4:p.Leu527TrpfsTer7
ENST00000401874.7:c.1579_1582del	ENSP00000384468.2:p.Leu527TrpfsTer7
ENST00000463601.2:n.1707_1710del
ENST00000568454.6:c.1612_1615del	ENSP00000454487.1:p.Leu538TrpfsTer7
ENST00000642365.1:c.236_239del
ENST00000642561.1:c.1579_1582del	ENSP00000495099.1:p.Leu527TrpfsTer7
ENST00000642797.1:c.1579_1582del	ENSP00000493846.1:p.Leu527TrpfsTer7
ENST00000642812.1:n.1624_1627del
ENST00000642936.1:c.1579_1582del	ENSP00000494514.1:p.Leu527TrpfsTer7
ENST00000643088.1:c.1579_1582del	ENSP00000494747.1:p.Leu527TrpfsTer7
ENST00000643149.1:n.3589_3592del
ENST00000643298.1:c.*1081_*1084del	ENSP00000494393.1:n.*1081_*1084del
ENST00000643745.1:c.*511_*514del	ENSP00000495948.1:n.*511_*514del
ENST00000643946.1:c.1579_1582del	ENSP00000495927.1:p.Leu527TrpfsTer7
ENST00000644043.1:c.1579_1582del	ENSP00000496262.1:p.Leu527TrpfsTer7
ENST00000644135.1:c.1579_1582del	ENSP00000495644.1:p.Leu527TrpfsTer7
ENST00000644222.1:n.1666_1669del
ENST00000644329.1:c.1579_1582del	ENSP00000496611.1:p.Leu527TrpfsTer7
ENST00000644335.1:c.1579_1582del	ENSP00000496317.1:p.Leu527TrpfsTer7
ENST00000644399.1:c.1572_1575del
ENST00000644665.1:n.2753_2756del
ENST00000644847.1:n.571_574del
ENST00000645591.1:n.2637_2640del
ENST00000646388.1:c.1579_1582del	ENSP00000495921.1:p.Leu527TrpfsTer7
ENST00000646634.1:n.592_595del
ENST00000647234.1:n.3337_3340del
ENST00000647242.1:n.2215_2218del
ENST00000219476.7:c.1579_1582del	ENSP00000219476.3:p.Leu527TrpfsTer7
ENST00000350773.8:c.1579_1582del	ENSP00000344383.4:p.Leu527TrpfsTer7
ENST00000382538.10:c.1432_1435del	ENSP00000371978.6:p.Leu478TrpfsTer7
ENST00000401874.6:c.1579_1582del	ENSP00000384468.2:p.Leu527TrpfsTer7
ENST00000439117.6:c.*878_*881del	ENSP00000406980.2:n.*878_*881del
ENST00000439673.6:c.1468_1471del	ENSP00000399232.2:p.Leu490TrpfsTer7
ENST00000490108.1:n.352_355del
ENST00000568238.1:n.337_340del
ENST00000568454.5:c.1612_1615del	ENSP00000454487.1:p.Leu538TrpfsTer7
ENST00000568566.5:c.219_222del	ENSP00000455997.1:n.219_222del
NM_000548.3:c.1579_1582del , LRG_487t1:c.1579_1582del	NP_000539.2:p.Leu527TrpfsTer7
NM_001077183.1:c.1579_1582del	NP_001070651.1:p.Leu527TrpfsTer7
NM_001114382.1:c.1579_1582del	NP_001107854.1:p.Leu527TrpfsTer7
XM_005255529.3:c.1579_1582del	XP_005255586.2:p.Leu527TrpfsTer7
XM_005255531.3:c.1579_1582del	XP_005255588.2:p.Leu527TrpfsTer7
XM_011522636.1:c.1579_1582del	XP_011520938.1:p.Leu527TrpfsTer7
XM_011522637.1:c.1579_1582del	XP_011520939.1:p.Leu527TrpfsTer7
XM_011522638.1:c.1468_1471del	XP_011520940.1:p.Leu490TrpfsTer7
XM_011522639.1:c.1579_1582del	XP_011520941.1:p.Leu527TrpfsTer7
XM_011522640.1:c.1579_1582del	XP_011520942.1:p.Leu527TrpfsTer7
XM_011522641.1:c.1468_1471del	XP_011520943.1:p.Leu490TrpfsTer7
NM_000548.4:c.1579_1582del	NP_000539.2:p.Leu527TrpfsTer7
NM_001077183.2:c.1579_1582del	NP_001070651.1:p.Leu527TrpfsTer7
NM_001114382.2:c.1579_1582del	NP_001107854.1:p.Leu527TrpfsTer7
NM_001318827.1:c.1468_1471del	NP_001305756.1:p.Leu490TrpfsTer7
NM_001318829.1:c.1432_1435del	NP_001305758.1:p.Leu478TrpfsTer7
NM_001318831.1:c.979_982del	NP_001305760.1:p.Leu327TrpfsTer7
NM_001318832.1:c.1612_1615del	NP_001305761.1:p.Leu538TrpfsTer7
NM_001363528.1:c.1579_1582del	NP_001350457.1:p.Leu527TrpfsTer7
NM_021055.2:c.1579_1582del	NP_066399.2:p.Leu527TrpfsTer7
XM_005255531.4:c.1579_1582del	XP_005255588.2:p.Leu527TrpfsTer7
XM_011522636.2:c.1579_1582del	XP_011520938.1:p.Leu527TrpfsTer7
XM_011522637.2:c.1579_1582del	XP_011520939.1:p.Leu527TrpfsTer7
XM_011522638.2:c.1741_1744del	XP_011520940.2:p.Leu581TrpfsTer7
XM_011522639.2:c.1579_1582del	XP_011520941.1:p.Leu527TrpfsTer7
XM_011522640.2:c.1579_1582del	XP_011520942.1:p.Leu527TrpfsTer7
XM_017023615.1:c.1579_1582del	XP_016879104.1:p.Leu527TrpfsTer7
XM_017023616.1:c.1579_1582del	XP_016879105.1:p.Leu527TrpfsTer7
XM_017023617.1:c.1741_1744del	XP_016879106.1:p.Leu581TrpfsTer7
XM_017023618.1:c.235_238del	XP_016879107.1:p.Leu79TrpfsTer7
XM_024450413.1:c.1579_1582del	XP_024306181.1:p.Leu527TrpfsTer7
NM_000548.5:c.1579_1582del MANE Select	NP_000539.2:p.Leu527TrpfsTer7
NM_001370404.1:c.1579_1582del	NP_001357333.1:p.Leu527TrpfsTer7
NM_001370405.1:c.1579_1582del	NP_001357334.1:p.Leu527TrpfsTer7
NM_001077183.3:c.1579_1582del	NP_001070651.1:p.Leu527TrpfsTer7
NM_001114382.3:c.1579_1582del	NP_001107854.1:p.Leu527TrpfsTer7
NM_001318827.2:c.1468_1471del	NP_001305756.1:p.Leu490TrpfsTer7
NM_001318829.2:c.1432_1435del	NP_001305758.1:p.Leu478TrpfsTer7
NM_001318831.2:c.979_982del	NP_001305760.1:p.Leu327TrpfsTer7
NM_001318832.2:c.1612_1615del	NP_001305761.1:p.Leu538TrpfsTer7
NM_001363528.2:c.1579_1582del	NP_001350457.1:p.Leu527TrpfsTer7
NM_021055.3:c.1579_1582del	NP_066399.2:p.Leu527TrpfsTer7