Canonical Allele Identifier: CA016317

Gene: TSC2

Linked Data

• ClinVar Variation Id: 49691
• ClinVar RCV Id: RCV000042954
• dbSNP Id: rs137854349
• MyVariant Identifiers: chr16:g.2121798_2121799del (hg19) ; chr16:g.2071797_2071798del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2071797_2071798del , CM000678.2:g.2071797_2071798del	GRCh38
NC_000016.9:g.2121798_2121799del , CM000678.1:g.2121798_2121799del	GRCh37
NC_000016.8:g.2061799_2061800del	NCBI36
NG_005895.1:g.27492_27493del , LRG_487:g.27492_27493del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*507_*508del	ENSP00000455997.2:n.*507_*508del
ENST00000642206.2:c.2005_2006del	ENSP00000495146.2:p.Gly669LeufsTer2
ENST00000642365.2:c.1960_1961del	ENSP00000495459.2:p.Gly654LeufsTer2
ENST00000644417.2:c.*1397_*1398del	ENSP00000493912.2:n.*1397_*1398del
ENST00000646464.2:c.*1565_*1566del	ENSP00000496610.2:n.*1565_*1566del
ENST00000219476.9:c.1960_1961del MANE Select	ENSP00000219476.3:p.Gly654LeufsTer2
ENST00000350773.9:c.1960_1961del	ENSP00000344383.4:p.Gly654LeufsTer2
ENST00000401874.7:c.1960_1961del	ENSP00000384468.2:p.Gly654LeufsTer2
ENST00000563346.2:n.138_139del
ENST00000568454.6:c.1993_1994del	ENSP00000454487.1:p.Gly665LeufsTer2
ENST00000642365.1:c.617_618del
ENST00000642561.1:c.1960_1961del	ENSP00000495099.1:p.Gly654LeufsTer2
ENST00000642797.1:c.1960_1961del	ENSP00000493846.1:p.Gly654LeufsTer2
ENST00000642936.1:c.1960_1961del	ENSP00000494514.1:p.Gly654LeufsTer2
ENST00000643088.1:c.1960_1961del	ENSP00000494747.1:p.Gly654LeufsTer2
ENST00000643298.1:c.*1462_*1463del	ENSP00000494393.1:n.*1462_*1463del
ENST00000643946.1:c.1960_1961del	ENSP00000495927.1:p.Gly654LeufsTer2
ENST00000644043.1:c.1960_1961del	ENSP00000496262.1:p.Gly654LeufsTer2
ENST00000644329.1:c.1960_1961del	ENSP00000496611.1:p.Gly654LeufsTer2
ENST00000644335.1:c.1960_1961del	ENSP00000496317.1:p.Gly654LeufsTer2
ENST00000644399.1:c.1953_1954del
ENST00000644847.1:n.952_953del
ENST00000645024.1:n.242_243del
ENST00000645552.1:n.240_241del
ENST00000646388.1:c.1960_1961del	ENSP00000495921.1:p.Gly654LeufsTer2
ENST00000646464.1:c.13_14del	ENSP00000496610.1:p.Gly5LeufsTer2
ENST00000646634.1:n.973_974del
ENST00000219476.7:c.1960_1961del	ENSP00000219476.3:p.Gly654LeufsTer2
ENST00000350773.8:c.1960_1961del	ENSP00000344383.4:p.Gly654LeufsTer2
ENST00000382538.10:c.1813_1814del	ENSP00000371978.6:p.Gly605LeufsTer2
ENST00000401874.6:c.1960_1961del	ENSP00000384468.2:p.Gly654LeufsTer2
ENST00000439117.6:c.*1259_*1260del	ENSP00000406980.2:n.*1259_*1260del
ENST00000439673.6:c.1849_1850del	ENSP00000399232.2:p.Gly617LeufsTer2
ENST00000488675.5:n.467_468del
ENST00000563346.1:n.29_30del
ENST00000568454.5:c.1993_1994del	ENSP00000454487.1:p.Gly665LeufsTer2
NM_000548.3:c.1960_1961del , LRG_487t1:c.1960_1961del	NP_000539.2:p.Gly654LeufsTer2
NM_001077183.1:c.1960_1961del	NP_001070651.1:p.Gly654LeufsTer2
NM_001114382.1:c.1960_1961del	NP_001107854.1:p.Gly654LeufsTer2
XM_005255529.3:c.1960_1961del	XP_005255586.2:p.Gly654LeufsTer2
XM_005255531.3:c.1960_1961del	XP_005255588.2:p.Gly654LeufsTer2
XM_011522636.1:c.1960_1961del	XP_011520938.1:p.Gly654LeufsTer2
XM_011522637.1:c.1960_1961del	XP_011520939.1:p.Gly654LeufsTer2
XM_011522638.1:c.1849_1850del	XP_011520940.1:p.Gly617LeufsTer2
XM_011522639.1:c.1960_1961del	XP_011520941.1:p.Gly654LeufsTer2
XM_011522640.1:c.1960_1961del	XP_011520942.1:p.Gly654LeufsTer2
XM_011522641.1:c.1849_1850del	XP_011520943.1:p.Gly617LeufsTer2
NM_000548.4:c.1960_1961del	NP_000539.2:p.Gly654LeufsTer2
NM_001077183.2:c.1960_1961del	NP_001070651.1:p.Gly654LeufsTer2
NM_001114382.2:c.1960_1961del	NP_001107854.1:p.Gly654LeufsTer2
NM_001318827.1:c.1849_1850del	NP_001305756.1:p.Gly617LeufsTer2
NM_001318829.1:c.1813_1814del	NP_001305758.1:p.Gly605LeufsTer2
NM_001318831.1:c.1360_1361del	NP_001305760.1:p.Gly454LeufsTer2
NM_001318832.1:c.1993_1994del	NP_001305761.1:p.Gly665LeufsTer2
NM_001363528.1:c.1960_1961del	NP_001350457.1:p.Gly654LeufsTer2
NM_021055.2:c.1960_1961del	NP_066399.2:p.Gly654LeufsTer2
XM_005255531.4:c.1960_1961del	XP_005255588.2:p.Gly654LeufsTer2
XM_011522636.2:c.1960_1961del	XP_011520938.1:p.Gly654LeufsTer2
XM_011522637.2:c.1960_1961del	XP_011520939.1:p.Gly654LeufsTer2
XM_011522638.2:c.2122_2123del	XP_011520940.2:p.Gly708LeufsTer2
XM_011522639.2:c.1960_1961del	XP_011520941.1:p.Gly654LeufsTer2
XM_011522640.2:c.1960_1961del	XP_011520942.1:p.Gly654LeufsTer2
XM_017023615.1:c.1960_1961del	XP_016879104.1:p.Gly654LeufsTer2
XM_017023616.1:c.1960_1961del	XP_016879105.1:p.Gly654LeufsTer2
XM_017023617.1:c.2122_2123del	XP_016879106.1:p.Gly708LeufsTer2
XM_017023618.1:c.616_617del	XP_016879107.1:p.Gly206LeufsTer2
XM_024450413.1:c.1960_1961del	XP_024306181.1:p.Gly654LeufsTer2
NM_000548.5:c.1960_1961del MANE Select	NP_000539.2:p.Gly654LeufsTer2
NM_001370404.1:c.1960_1961del	NP_001357333.1:p.Gly654LeufsTer2
NM_001370405.1:c.1960_1961del	NP_001357334.1:p.Gly654LeufsTer2
NM_001077183.3:c.1960_1961del	NP_001070651.1:p.Gly654LeufsTer2
NM_001114382.3:c.1960_1961del	NP_001107854.1:p.Gly654LeufsTer2
NM_001318827.2:c.1849_1850del	NP_001305756.1:p.Gly617LeufsTer2
NM_001318829.2:c.1813_1814del	NP_001305758.1:p.Gly605LeufsTer2
NM_001318831.2:c.1360_1361del	NP_001305760.1:p.Gly454LeufsTer2
NM_001318832.2:c.1993_1994del	NP_001305761.1:p.Gly665LeufsTer2
NM_001363528.2:c.1960_1961del	NP_001350457.1:p.Gly654LeufsTer2
NM_021055.3:c.1960_1961del	NP_066399.2:p.Gly654LeufsTer2