Canonical Allele Identifier: CA658658366

Gene: TSC2

Linked Data

• dbSNP Id: rs1555505103
• MyVariant Identifiers: chr16:g.2120504_2120505del (hg19) ; chr16:g.2070503_2070504del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2070503_2070504del , CM000678.2:g.2070503_2070504del	GRCh38
NC_000016.9:g.2120504_2120505del , CM000678.1:g.2120504_2120505del	GRCh37
NC_000016.8:g.2060505_2060506del	NCBI36
NG_005895.1:g.26198_26199del , LRG_487:g.26198_26199del

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*311_*312del	ENSP00000455997.2:n.*311_*312del
ENST00000642206.2:c.1809_1810del	ENSP00000495146.2:p.Glu603AspfsTer28
ENST00000642365.2:c.1764_1765del	ENSP00000495459.2:p.Glu588AspfsTer28
ENST00000644417.2:c.*1201_*1202del	ENSP00000493912.2:n.*1201_*1202del
ENST00000646464.2:c.*1369_*1370del	ENSP00000496610.2:n.*1369_*1370del
ENST00000219476.9:c.1764_1765del MANE Select	ENSP00000219476.3:p.Glu588AspfsTer28
ENST00000350773.9:c.1764_1765del	ENSP00000344383.4:p.Glu588AspfsTer28
ENST00000401874.7:c.1764_1765del	ENSP00000384468.2:p.Glu588AspfsTer28
ENST00000568454.6:c.1797_1798del	ENSP00000454487.1:p.Glu599AspfsTer28
ENST00000642365.1:c.421_422del
ENST00000642561.1:c.1764_1765del	ENSP00000495099.1:p.Glu588AspfsTer28
ENST00000642797.1:c.1764_1765del	ENSP00000493846.1:p.Glu588AspfsTer28
ENST00000642936.1:c.1764_1765del	ENSP00000494514.1:p.Glu588AspfsTer28
ENST00000643088.1:c.1764_1765del	ENSP00000494747.1:p.Glu588AspfsTer28
ENST00000643298.1:c.*1266_*1267del	ENSP00000494393.1:n.*1266_*1267del
ENST00000643946.1:c.1764_1765del	ENSP00000495927.1:p.Glu588AspfsTer28
ENST00000644043.1:c.1764_1765del	ENSP00000496262.1:p.Glu588AspfsTer28
ENST00000644135.1:c.*264_*265del	ENSP00000495644.1:n.*264_*265del
ENST00000644329.1:c.1764_1765del	ENSP00000496611.1:p.Glu588AspfsTer28
ENST00000644335.1:c.1764_1765del	ENSP00000496317.1:p.Glu588AspfsTer28
ENST00000644399.1:c.1757_1758del
ENST00000644847.1:n.756_757del
ENST00000645552.1:n.44_45del
ENST00000646388.1:c.1764_1765del	ENSP00000495921.1:p.Glu588AspfsTer28
ENST00000646634.1:n.777_778del
ENST00000219476.7:c.1764_1765del	ENSP00000219476.3:p.Glu588AspfsTer28
ENST00000350773.8:c.1764_1765del	ENSP00000344383.4:p.Glu588AspfsTer28
ENST00000382538.10:c.1617_1618del	ENSP00000371978.6:p.Glu539AspfsTer28
ENST00000401874.6:c.1764_1765del	ENSP00000384468.2:p.Glu588AspfsTer28
ENST00000439117.6:c.*1063_*1064del	ENSP00000406980.2:n.*1063_*1064del
ENST00000439673.6:c.1653_1654del	ENSP00000399232.2:p.Glu551AspfsTer28
ENST00000488675.5:n.271_272del
ENST00000562474.1:n.489_490del
ENST00000568454.5:c.1797_1798del	ENSP00000454487.1:p.Glu599AspfsTer28
ENST00000568566.5:c.404_405del	ENSP00000455997.1:n.404_405del
NM_000548.3:c.1764_1765del , LRG_487t1:c.1764_1765del	NP_000539.2:p.Glu588AspfsTer28
NM_001077183.1:c.1764_1765del	NP_001070651.1:p.Glu588AspfsTer28
NM_001114382.1:c.1764_1765del	NP_001107854.1:p.Glu588AspfsTer28
XM_005255529.3:c.1764_1765del	XP_005255586.2:p.Glu588AspfsTer28
XM_005255531.3:c.1764_1765del	XP_005255588.2:p.Glu588AspfsTer28
XM_011522636.1:c.1764_1765del	XP_011520938.1:p.Glu588AspfsTer28
XM_011522637.1:c.1764_1765del	XP_011520939.1:p.Glu588AspfsTer28
XM_011522638.1:c.1653_1654del	XP_011520940.1:p.Glu551AspfsTer28
XM_011522639.1:c.1764_1765del	XP_011520941.1:p.Glu588AspfsTer28
XM_011522640.1:c.1764_1765del	XP_011520942.1:p.Glu588AspfsTer28
XM_011522641.1:c.1653_1654del	XP_011520943.1:p.Glu551AspfsTer28
NM_000548.4:c.1764_1765del	NP_000539.2:p.Glu588AspfsTer28
NM_001077183.2:c.1764_1765del	NP_001070651.1:p.Glu588AspfsTer28
NM_001114382.2:c.1764_1765del	NP_001107854.1:p.Glu588AspfsTer28
NM_001318827.1:c.1653_1654del	NP_001305756.1:p.Glu551AspfsTer28
NM_001318829.1:c.1617_1618del	NP_001305758.1:p.Glu539AspfsTer28
NM_001318831.1:c.1164_1165del	NP_001305760.1:p.Glu388AspfsTer28
NM_001318832.1:c.1797_1798del	NP_001305761.1:p.Glu599AspfsTer28
NM_001363528.1:c.1764_1765del	NP_001350457.1:p.Glu588AspfsTer28
NM_021055.2:c.1764_1765del	NP_066399.2:p.Glu588AspfsTer28
XM_005255531.4:c.1764_1765del	XP_005255588.2:p.Glu588AspfsTer28
XM_011522636.2:c.1764_1765del	XP_011520938.1:p.Glu588AspfsTer28
XM_011522637.2:c.1764_1765del	XP_011520939.1:p.Glu588AspfsTer28
XM_011522638.2:c.1926_1927del	XP_011520940.2:p.Glu642AspfsTer28
XM_011522639.2:c.1764_1765del	XP_011520941.1:p.Glu588AspfsTer28
XM_011522640.2:c.1764_1765del	XP_011520942.1:p.Glu588AspfsTer28
XM_017023615.1:c.1764_1765del	XP_016879104.1:p.Glu588AspfsTer28
XM_017023616.1:c.1764_1765del	XP_016879105.1:p.Glu588AspfsTer28
XM_017023617.1:c.1926_1927del	XP_016879106.1:p.Glu642AspfsTer28
XM_017023618.1:c.420_421del	XP_016879107.1:p.Glu140AspfsTer28
XM_024450413.1:c.1764_1765del	XP_024306181.1:p.Glu588AspfsTer28
NM_000548.5:c.1764_1765del MANE Select	NP_000539.2:p.Glu588AspfsTer28
NM_001370404.1:c.1764_1765del	NP_001357333.1:p.Glu588AspfsTer28
NM_001370405.1:c.1764_1765del	NP_001357334.1:p.Glu588AspfsTer28
NM_001077183.3:c.1764_1765del	NP_001070651.1:p.Glu588AspfsTer28
NM_001114382.3:c.1764_1765del	NP_001107854.1:p.Glu588AspfsTer28
NM_001318827.2:c.1653_1654del	NP_001305756.1:p.Glu551AspfsTer28
NM_001318829.2:c.1617_1618del	NP_001305758.1:p.Glu539AspfsTer28
NM_001318831.2:c.1164_1165del	NP_001305760.1:p.Glu388AspfsTer28
NM_001318832.2:c.1797_1798del	NP_001305761.1:p.Glu599AspfsTer28
NM_001363528.2:c.1764_1765del	NP_001350457.1:p.Glu588AspfsTer28
NM_021055.3:c.1764_1765del	NP_066399.2:p.Glu588AspfsTer28