Canonical Allele Identifier: CA020821

Gene: TSC2

Linked Data

• ClinVar Variation Id: 49309
• ClinVar RCV Id: RCV000042569
• dbSNP Id: rs137854111
• MyVariant Identifiers: chr16:g.2135315_2135316dupGA (hg19) ; chr16:g.2085314_2085315dupGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2085314_2085315dup , CM000678.2:g.2085314_2085315dup	GRCh38
NC_000016.9:g.2135315_2135316dup , CM000678.1:g.2135315_2135316dup	GRCh37
NC_000016.8:g.2075316_2075317dup	NCBI36
NG_005895.1:g.41009_41010dup , LRG_487:g.41009_41010dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3003_*3004dup	ENSP00000455997.2:n.*3003_*3004dup
ENST00000642206.2:c.4501_4502dup	ENSP00000495146.2:p.Gly1502LysfsTer24
ENST00000642365.2:c.4651_4652dup	ENSP00000495459.2:p.Gly1552LysfsTer24
ENST00000644417.2:c.*5034_*5035dup	ENSP00000493912.2:n.*5034_*5035dup
ENST00000646464.2:c.*7403_*7404dup	ENSP00000496610.2:n.*7403_*7404dup
ENST00000219476.9:c.4654_4655dup MANE Select	ENSP00000219476.3:p.Gly1553LysfsTer24
ENST00000350773.9:c.4585_4586dup	ENSP00000344383.4:p.Gly1530LysfsTer24
ENST00000401874.7:c.4453_4454dup	ENSP00000384468.2:p.Gly1486LysfsTer24
ENST00000568454.6:c.4486_4487dup	ENSP00000454487.1:p.Gly1497LysfsTer24
ENST00000569110.2:c.877_878dup
ENST00000569930.2:n.2536_2537dup
ENST00000642365.1:c.3308_3309dup
ENST00000642561.1:c.4525_4526dup	ENSP00000495099.1:p.Gly1510LysfsTer24
ENST00000642728.1:n.836_837dup
ENST00000642791.1:n.251_252dup
ENST00000642797.1:c.4456_4457dup	ENSP00000493846.1:p.Gly1487LysfsTer24
ENST00000642936.1:c.4522_4523dup	ENSP00000494514.1:p.Gly1509LysfsTer24
ENST00000643088.1:c.4447_4448dup	ENSP00000494747.1:p.Gly1484LysfsTer24
ENST00000643177.1:n.668_669dup
ENST00000643426.1:n.2302_2303dup
ENST00000643946.1:c.4579_4580dup	ENSP00000495927.1:p.Gly1528LysfsTer24
ENST00000644043.1:c.4525_4526dup	ENSP00000496262.1:p.Gly1510LysfsTer24
ENST00000644278.1:n.136_137dup
ENST00000644329.1:c.4453_4454dup	ENSP00000496611.1:p.Gly1486LysfsTer24
ENST00000644335.1:c.4450_4451dup	ENSP00000496317.1:p.Gly1485LysfsTer24
ENST00000644399.1:c.4575_4576dup
ENST00000645024.1:n.2738_2739dup
ENST00000646388.1:c.4648_4649dup	ENSP00000495921.1:p.Gly1551LysfsTer24
ENST00000646634.1:n.3469_3470dup
ENST00000646674.1:n.1906_1907dup
ENST00000647042.1:n.1877_1878dup
ENST00000647180.1:n.1767_1768dup
ENST00000219476.7:c.4654_4655dup	ENSP00000219476.3:p.Gly1553LysfsTer24
ENST00000350773.8:c.4585_4586dup	ENSP00000344383.4:p.Gly1530LysfsTer24
ENST00000382538.10:c.4309_4310dup	ENSP00000371978.6:p.Gly1438LysfsTer24
ENST00000401874.6:c.4453_4454dup	ENSP00000384468.2:p.Gly1486LysfsTer24
ENST00000439117.6:c.*3821_*3822dup	ENSP00000406980.2:n.*3821_*3822dup
ENST00000439673.6:c.4345_4346dup	ENSP00000399232.2:p.Gly1450LysfsTer24
ENST00000497886.5:n.2412_2413dup
ENST00000568454.5:c.4486_4487dup	ENSP00000454487.1:p.Gly1497LysfsTer24
ENST00000569110.1:c.836_837dup
ENST00000569930.1:n.1769_1770dup
NM_000548.3:c.4654_4655dup , LRG_487t1:c.4654_4655dup	NP_000539.2:p.Gly1553LysfsTer24
NM_001077183.1:c.4453_4454dup	NP_001070651.1:p.Gly1486LysfsTer24
NM_001114382.1:c.4585_4586dup	NP_001107854.1:p.Gly1530LysfsTer24
XM_005255529.3:c.4525_4526dup	XP_005255586.2:p.Gly1510LysfsTer24
XM_005255531.3:c.4456_4457dup	XP_005255588.2:p.Gly1487LysfsTer24
XM_011522636.1:c.4708_4709dup	XP_011520938.1:p.Gly1571LysfsTer24
XM_011522637.1:c.4705_4706dup	XP_011520939.1:p.Gly1570LysfsTer24
XM_011522638.1:c.4597_4598dup	XP_011520940.1:p.Gly1534LysfsTer24
XM_011522639.1:c.4579_4580dup	XP_011520941.1:p.Gly1528LysfsTer24
XM_011522640.1:c.4576_4577dup	XP_011520942.1:p.Gly1527LysfsTer24
XM_011522641.1:c.4345_4346dup	XP_011520943.1:p.Gly1450LysfsTer24
NM_000548.4:c.4654_4655dup	NP_000539.2:p.Gly1553LysfsTer24
NM_001077183.2:c.4453_4454dup	NP_001070651.1:p.Gly1486LysfsTer24
NM_001114382.2:c.4585_4586dup	NP_001107854.1:p.Gly1530LysfsTer24
NM_001318827.1:c.4345_4346dup	NP_001305756.1:p.Gly1450LysfsTer24
NM_001318829.1:c.4309_4310dup	NP_001305758.1:p.Gly1438LysfsTer24
NM_001318831.1:c.3922_3923dup	NP_001305760.1:p.Gly1309LysfsTer24
NM_001318832.1:c.4486_4487dup	NP_001305761.1:p.Gly1497LysfsTer24
NM_001363528.1:c.4456_4457dup	NP_001350457.1:p.Gly1487LysfsTer24
NM_021055.2:c.4525_4526dup	NP_066399.2:p.Gly1510LysfsTer24
XM_005255531.4:c.4456_4457dup	XP_005255588.2:p.Gly1487LysfsTer24
XM_011522636.2:c.4708_4709dup	XP_011520938.1:p.Gly1571LysfsTer24
XM_011522637.2:c.4705_4706dup	XP_011520939.1:p.Gly1570LysfsTer24
XM_011522638.2:c.4870_4871dup	XP_011520940.2:p.Gly1625LysfsTer24
XM_011522639.2:c.4579_4580dup	XP_011520941.1:p.Gly1528LysfsTer24
XM_011522640.2:c.4576_4577dup	XP_011520942.1:p.Gly1527LysfsTer24
XM_017023615.1:c.4651_4652dup	XP_016879104.1:p.Gly1552LysfsTer24
XM_017023616.1:c.4522_4523dup	XP_016879105.1:p.Gly1509LysfsTer24
XM_017023617.1:c.4618_4619dup	XP_016879106.1:p.Gly1541LysfsTer24
XM_017023618.1:c.3364_3365dup	XP_016879107.1:p.Gly1123LysfsTer24
XM_024450413.1:c.4453_4454dup	XP_024306181.1:p.Gly1486LysfsTer24
NM_000548.5:c.4654_4655dup MANE Select	NP_000539.2:p.Gly1553LysfsTer24
NM_001370404.1:c.4522_4523dup	NP_001357333.1:p.Gly1509LysfsTer24
NM_001370405.1:c.4525_4526dup	NP_001357334.1:p.Gly1510LysfsTer24
NM_001077183.3:c.4453_4454dup	NP_001070651.1:p.Gly1486LysfsTer24
NM_001114382.3:c.4585_4586dup	NP_001107854.1:p.Gly1530LysfsTer24
NM_001318827.2:c.4345_4346dup	NP_001305756.1:p.Gly1450LysfsTer24
NM_001318829.2:c.4309_4310dup	NP_001305758.1:p.Gly1438LysfsTer24
NM_001318831.2:c.3922_3923dup	NP_001305760.1:p.Gly1309LysfsTer24
NM_001318832.2:c.4486_4487dup	NP_001305761.1:p.Gly1497LysfsTer24
NM_001363528.2:c.4456_4457dup	NP_001350457.1:p.Gly1487LysfsTer24
NM_021055.3:c.4525_4526dup	NP_066399.2:p.Gly1510LysfsTer24