Canonical Allele Identifier: CA2580091013

Gene: TSC2

Linked Data

• ClinVar Variation Id: 2497442
• ClinVar RCV Id: RCV003213897

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2081664_2081669del , CM000678.2:g.2081664_2081669del	GRCh38
NC_000016.9:g.2131665_2131670del , CM000678.1:g.2131665_2131670del	GRCh37
NC_000016.8:g.2071666_2071671del	NCBI36
NG_005895.1:g.37359_37364del , LRG_487:g.37359_37364del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2098_*2103del	ENSP00000455997.2:n.*2098_*2103del
ENST00000642206.2:c.3596_3601del	ENSP00000495146.2:p.Pro1199_Leu1200del
ENST00000642365.2:c.3677_3682del	ENSP00000495459.2:p.Pro1226_Leu1227del
ENST00000644417.2:c.*4129_*4134del	ENSP00000493912.2:n.*4129_*4134del
ENST00000646464.2:c.*4602_*4607del	ENSP00000496610.2:n.*4602_*4607del
ENST00000219476.9:c.3680_3685del MANE Select	ENSP00000219476.3:p.Pro1227_Leu1228del
ENST00000350773.9:c.3680_3685del	ENSP00000344383.4:p.Pro1227_Leu1228del
ENST00000401874.7:c.3548_3553del	ENSP00000384468.2:p.Pro1183_Leu1184del
ENST00000568454.6:c.3581_3586del	ENSP00000454487.1:p.Pro1194_Leu1195del
ENST00000642365.1:c.2334_2339del
ENST00000642561.1:c.3551_3556del	ENSP00000495099.1:p.Pro1184_Leu1185del
ENST00000642797.1:c.3551_3556del	ENSP00000493846.1:p.Pro1184_Leu1185del
ENST00000642936.1:c.3548_3553del	ENSP00000494514.1:p.Pro1183_Leu1184del
ENST00000643088.1:c.3548_3553del	ENSP00000494747.1:p.Pro1183_Leu1184del
ENST00000643426.1:n.1328_1333del
ENST00000643533.1:n.190_195del
ENST00000643946.1:c.3680_3685del	ENSP00000495927.1:p.Pro1227_Leu1228del
ENST00000644043.1:c.3551_3556del	ENSP00000496262.1:p.Pro1184_Leu1185del
ENST00000644329.1:c.3548_3553del	ENSP00000496611.1:p.Pro1183_Leu1184del
ENST00000644335.1:c.3551_3556del	ENSP00000496317.1:p.Pro1184_Leu1185del
ENST00000644399.1:c.3670_3675del
ENST00000644722.1:n.826_831del
ENST00000645024.1:n.1833_1838del
ENST00000646388.1:c.3680_3685del	ENSP00000495921.1:p.Pro1227_Leu1228del
ENST00000646634.1:n.2564_2569del
ENST00000646674.1:n.295_300del
ENST00000647042.1:n.972_977del
ENST00000647180.1:n.160_165del
ENST00000219476.7:c.3680_3685del	ENSP00000219476.3:p.Pro1227_Leu1228del
ENST00000350773.8:c.3680_3685del	ENSP00000344383.4:p.Pro1227_Leu1228del
ENST00000382538.10:c.3404_3409del	ENSP00000371978.6:p.Pro1135_Leu1136del
ENST00000401874.6:c.3548_3553del	ENSP00000384468.2:p.Pro1183_Leu1184del
ENST00000439117.6:c.*2847_*2852del	ENSP00000406980.2:n.*2847_*2852del
ENST00000439673.6:c.3440_3445del	ENSP00000399232.2:p.Pro1147_Leu1148del
ENST00000497886.5:n.1507_1512del
ENST00000568454.5:c.3581_3586del	ENSP00000454487.1:p.Pro1194_Leu1195del
NM_000548.3:c.3680_3685del , LRG_487t1:c.3680_3685del	NP_000539.2:p.Pro1227_Leu1228del
NM_001077183.1:c.3548_3553del	NP_001070651.1:p.Pro1183_Leu1184del
NM_001114382.1:c.3680_3685del	NP_001107854.1:p.Pro1227_Leu1228del
XM_005255529.3:c.3551_3556del	XP_005255586.2:p.Pro1184_Leu1185del
XM_005255531.3:c.3551_3556del	XP_005255588.2:p.Pro1184_Leu1185del
XM_011522636.1:c.3680_3685del	XP_011520938.1:p.Pro1227_Leu1228del
XM_011522637.1:c.3677_3682del	XP_011520939.1:p.Pro1226_Leu1227del
XM_011522638.1:c.3569_3574del	XP_011520940.1:p.Pro1190_Leu1191del
XM_011522639.1:c.3551_3556del	XP_011520941.1:p.Pro1184_Leu1185del
XM_011522640.1:c.3548_3553del	XP_011520942.1:p.Pro1183_Leu1184del
XM_011522641.1:c.3440_3445del	XP_011520943.1:p.Pro1147_Leu1148del
NM_000548.4:c.3680_3685del	NP_000539.2:p.Pro1227_Leu1228del
NM_001077183.2:c.3548_3553del	NP_001070651.1:p.Pro1183_Leu1184del
NM_001114382.2:c.3680_3685del	NP_001107854.1:p.Pro1227_Leu1228del
NM_001318827.1:c.3440_3445del	NP_001305756.1:p.Pro1147_Leu1148del
NM_001318829.1:c.3404_3409del	NP_001305758.1:p.Pro1135_Leu1136del
NM_001318831.1:c.2948_2953del	NP_001305760.1:p.Pro983_Leu984del
NM_001318832.1:c.3581_3586del	NP_001305761.1:p.Pro1194_Leu1195del
NM_001363528.1:c.3551_3556del	NP_001350457.1:p.Pro1184_Leu1185del
NM_021055.2:c.3551_3556del	NP_066399.2:p.Pro1184_Leu1185del
XM_005255531.4:c.3551_3556del	XP_005255588.2:p.Pro1184_Leu1185del
XM_011522636.2:c.3680_3685del	XP_011520938.1:p.Pro1227_Leu1228del
XM_011522637.2:c.3677_3682del	XP_011520939.1:p.Pro1226_Leu1227del
XM_011522638.2:c.3842_3847del	XP_011520940.2:p.Pro1281_Leu1282del
XM_011522639.2:c.3551_3556del	XP_011520941.1:p.Pro1184_Leu1185del
XM_011522640.2:c.3548_3553del	XP_011520942.1:p.Pro1183_Leu1184del
XM_017023615.1:c.3677_3682del	XP_016879104.1:p.Pro1226_Leu1227del
XM_017023616.1:c.3548_3553del	XP_016879105.1:p.Pro1183_Leu1184del
XM_017023617.1:c.3713_3718del	XP_016879106.1:p.Pro1238_Leu1239del
XM_017023618.1:c.2336_2341del	XP_016879107.1:p.Pro779_Leu780del
XM_024450413.1:c.3548_3553del	XP_024306181.1:p.Pro1183_Leu1184del
NM_000548.5:c.3680_3685del MANE Select	NP_000539.2:p.Pro1227_Leu1228del
NM_001370404.1:c.3548_3553del	NP_001357333.1:p.Pro1183_Leu1184del
NM_001370405.1:c.3551_3556del	NP_001357334.1:p.Pro1184_Leu1185del
NM_001077183.3:c.3548_3553del	NP_001070651.1:p.Pro1183_Leu1184del
NM_001114382.3:c.3680_3685del	NP_001107854.1:p.Pro1227_Leu1228del
NM_001318827.2:c.3440_3445del	NP_001305756.1:p.Pro1147_Leu1148del
NM_001318829.2:c.3404_3409del	NP_001305758.1:p.Pro1135_Leu1136del
NM_001318831.2:c.2948_2953del	NP_001305760.1:p.Pro983_Leu984del
NM_001318832.2:c.3581_3586del	NP_001305761.1:p.Pro1194_Leu1195del
NM_001363528.2:c.3551_3556del	NP_001350457.1:p.Pro1184_Leu1185del
NM_021055.3:c.3551_3556del	NP_066399.2:p.Pro1184_Leu1185del