Canonical Allele Identifier: CA2573151647

Gene: TSC2

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2084554_2084563del , CM000678.2:g.2084554_2084563del	GRCh38
NC_000016.9:g.2134555_2134564del , CM000678.1:g.2134555_2134564del	GRCh37
NC_000016.8:g.2074556_2074565del	NCBI36
NG_005895.1:g.40249_40258del , LRG_487:g.40249_40258del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2681_*2690del	ENSP00000455997.2:n.*2681_*2690del
ENST00000642206.2:c.4179_4188del	ENSP00000495146.2:p.Leu1394AlafsTer28
ENST00000642365.2:c.4329_4338del	ENSP00000495459.2:p.Leu1444AlafsTer28
ENST00000644417.2:c.*4712_*4721del	ENSP00000493912.2:n.*4712_*4721del
ENST00000646464.2:c.*7081_*7090del	ENSP00000496610.2:n.*7081_*7090del
ENST00000219476.9:c.4332_4341del MANE Select	ENSP00000219476.3:p.Leu1445AlafsTer28
ENST00000350773.9:c.4263_4272del	ENSP00000344383.4:p.Leu1422AlafsTer28
ENST00000401874.7:c.4131_4140del	ENSP00000384468.2:p.Leu1378AlafsTer28
ENST00000568454.6:c.4164_4173del	ENSP00000454487.1:p.Leu1389AlafsTer28
ENST00000569110.2:c.568_577del
ENST00000569930.2:n.2214_2223del
ENST00000642365.1:c.2986_2995del
ENST00000642561.1:c.4203_4212del	ENSP00000495099.1:p.Leu1402AlafsTer28
ENST00000642728.1:n.514_523del
ENST00000642797.1:c.4134_4143del	ENSP00000493846.1:p.Leu1379AlafsTer28
ENST00000642936.1:c.4200_4209del	ENSP00000494514.1:p.Leu1401AlafsTer28
ENST00000643088.1:c.4131_4140del	ENSP00000494747.1:p.Leu1378AlafsTer28
ENST00000643177.1:n.346_355del
ENST00000643426.1:n.1980_1989del
ENST00000643946.1:c.4263_4272del	ENSP00000495927.1:p.Leu1422AlafsTer28
ENST00000644043.1:c.4203_4212del	ENSP00000496262.1:p.Leu1402AlafsTer28
ENST00000644329.1:c.4131_4140del	ENSP00000496611.1:p.Leu1378AlafsTer28
ENST00000644335.1:c.4134_4143del	ENSP00000496317.1:p.Leu1379AlafsTer28
ENST00000644399.1:c.4253_4262del
ENST00000645024.1:n.2416_2425del
ENST00000646388.1:c.4332_4341del	ENSP00000495921.1:p.Leu1445AlafsTer28
ENST00000646634.1:n.3147_3156del
ENST00000646674.1:n.1584_1593del
ENST00000647042.1:n.1555_1564del
ENST00000647180.1:n.1445_1454del
ENST00000219476.7:c.4332_4341del	ENSP00000219476.3:p.Leu1445AlafsTer28
ENST00000350773.8:c.4263_4272del	ENSP00000344383.4:p.Leu1422AlafsTer28
ENST00000382538.10:c.3987_3996del	ENSP00000371978.6:p.Leu1330AlafsTer28
ENST00000401874.6:c.4131_4140del	ENSP00000384468.2:p.Leu1378AlafsTer28
ENST00000439117.6:c.*3499_*3508del	ENSP00000406980.2:n.*3499_*3508del
ENST00000439673.6:c.4023_4032del	ENSP00000399232.2:p.Leu1342AlafsTer28
ENST00000497886.5:n.2090_2099del
ENST00000568454.5:c.4164_4173del	ENSP00000454487.1:p.Leu1389AlafsTer28
ENST00000569110.1:c.514_523del
ENST00000569930.1:n.1447_1456del
NM_000548.3:c.4332_4341del , LRG_487t1:c.4332_4341del	NP_000539.2:p.Leu1445AlafsTer28
NM_001077183.1:c.4131_4140del	NP_001070651.1:p.Leu1378AlafsTer28
NM_001114382.1:c.4263_4272del	NP_001107854.1:p.Leu1422AlafsTer28
XM_005255529.3:c.4203_4212del	XP_005255586.2:p.Leu1402AlafsTer28
XM_005255531.3:c.4134_4143del	XP_005255588.2:p.Leu1379AlafsTer28
XM_011522636.1:c.4386_4395del	XP_011520938.1:p.Leu1463AlafsTer28
XM_011522637.1:c.4383_4392del	XP_011520939.1:p.Leu1462AlafsTer28
XM_011522638.1:c.4275_4284del	XP_011520940.1:p.Leu1426AlafsTer28
XM_011522639.1:c.4257_4266del	XP_011520941.1:p.Leu1420AlafsTer28
XM_011522640.1:c.4254_4263del	XP_011520942.1:p.Leu1419AlafsTer28
XM_011522641.1:c.4023_4032del	XP_011520943.1:p.Leu1342AlafsTer28
NM_000548.4:c.4332_4341del	NP_000539.2:p.Leu1445AlafsTer28
NM_001077183.2:c.4131_4140del	NP_001070651.1:p.Leu1378AlafsTer28
NM_001114382.2:c.4263_4272del	NP_001107854.1:p.Leu1422AlafsTer28
NM_001318827.1:c.4023_4032del	NP_001305756.1:p.Leu1342AlafsTer28
NM_001318829.1:c.3987_3996del	NP_001305758.1:p.Leu1330AlafsTer28
NM_001318831.1:c.3600_3609del	NP_001305760.1:p.Leu1201AlafsTer28
NM_001318832.1:c.4164_4173del	NP_001305761.1:p.Leu1389AlafsTer28
NM_001363528.1:c.4134_4143del	NP_001350457.1:p.Leu1379AlafsTer28
NM_021055.2:c.4203_4212del	NP_066399.2:p.Leu1402AlafsTer28
XM_005255531.4:c.4134_4143del	XP_005255588.2:p.Leu1379AlafsTer28
XM_011522636.2:c.4386_4395del	XP_011520938.1:p.Leu1463AlafsTer28
XM_011522637.2:c.4383_4392del	XP_011520939.1:p.Leu1462AlafsTer28
XM_011522638.2:c.4548_4557del	XP_011520940.2:p.Leu1517AlafsTer28
XM_011522639.2:c.4257_4266del	XP_011520941.1:p.Leu1420AlafsTer28
XM_011522640.2:c.4254_4263del	XP_011520942.1:p.Leu1419AlafsTer28
XM_017023615.1:c.4329_4338del	XP_016879104.1:p.Leu1444AlafsTer28
XM_017023616.1:c.4200_4209del	XP_016879105.1:p.Leu1401AlafsTer28
XM_017023617.1:c.4296_4305del	XP_016879106.1:p.Leu1433AlafsTer28
XM_017023618.1:c.3042_3051del	XP_016879107.1:p.Leu1015AlafsTer28
XM_024450413.1:c.4131_4140del	XP_024306181.1:p.Leu1378AlafsTer28
NM_000548.5:c.4332_4341del MANE Select	NP_000539.2:p.Leu1445AlafsTer28
NM_001370404.1:c.4200_4209del	NP_001357333.1:p.Leu1401AlafsTer28
NM_001370405.1:c.4203_4212del	NP_001357334.1:p.Leu1402AlafsTer28
NM_001077183.3:c.4131_4140del	NP_001070651.1:p.Leu1378AlafsTer28
NM_001114382.3:c.4263_4272del	NP_001107854.1:p.Leu1422AlafsTer28
NM_001318827.2:c.4023_4032del	NP_001305756.1:p.Leu1342AlafsTer28
NM_001318829.2:c.3987_3996del	NP_001305758.1:p.Leu1330AlafsTer28
NM_001318831.2:c.3600_3609del	NP_001305760.1:p.Leu1201AlafsTer28
NM_001318832.2:c.4164_4173del	NP_001305761.1:p.Leu1389AlafsTer28
NM_001363528.2:c.4134_4143del	NP_001350457.1:p.Leu1379AlafsTer28
NM_021055.3:c.4203_4212del	NP_066399.2:p.Leu1402AlafsTer28