Canonical Allele Identifier: CA2202032636

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2080184_2080217delinsTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTG , CM000678.2:g.2080184_2080217delinsTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTG	GRCh38
NC_000016.9:g.2130185_2130218delinsTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTG , CM000678.1:g.2130185_2130218delinsTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTG	GRCh37
NC_000016.8:g.2070186_2070219delinsTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTG	NCBI36
NG_005895.1:g.35879_35912delinsTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTG , LRG_487:g.35879_35912delinsTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*1835_*1868delinsTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTG	ENSP00000455997.2:n.*1835_*1868delinsTGGCGCCCTGGACGTGCCGGCCTC...
ENST00000642206.2:c.3333_3366delinsTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTG	ENSP00000495146.2:p.Val1111=
ENST00000642365.2:c.3414_3447delinsTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTG	ENSP00000495459.2:p.Val1138=
ENST00000644417.2:c.*3866_*3899delinsTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTG	ENSP00000493912.2:n.*3866_*3899delinsTGGCGCCCTGGACGTGCCGGCCTC...
ENST00000646464.2:c.*4339_*4372delinsTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTG	ENSP00000496610.2:n.*4339_*4372delinsTGGCGCCCTGGACGTGCCGGCCTC...
ENST00000219476.9:c.3417_3450delinsTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTG MANE Select	ENSP00000219476.3:p.Val1139=
ENST00000350773.9:c.3417_3450delinsTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTG	ENSP00000344383.4:p.Val1139=
ENST00000401874.7:c.3285_3318delinsTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTG	ENSP00000384468.2:p.Val1095=
ENST00000568454.6:c.3318_3351delinsTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTG	ENSP00000454487.1:p.Val1106=
ENST00000642365.1:c.2071_2104delinsTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTG
ENST00000642561.1:c.3288_3321delinsTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTG	ENSP00000495099.1:p.Val1096=
ENST00000642797.1:c.3288_3321delinsTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTG	ENSP00000493846.1:p.Val1096=
ENST00000642936.1:c.3285_3318delinsTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTG	ENSP00000494514.1:p.Val1095=
ENST00000643088.1:c.3285_3318delinsTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTG	ENSP00000494747.1:p.Val1095=
ENST00000643946.1:c.3417_3450delinsTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTG	ENSP00000495927.1:p.Val1139=
ENST00000644043.1:c.3288_3321delinsTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTG	ENSP00000496262.1:p.Val1096=
ENST00000644329.1:c.3285_3318delinsTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTG	ENSP00000496611.1:p.Val1095=
ENST00000644335.1:c.3288_3321delinsTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTG	ENSP00000496317.1:p.Val1096=
ENST00000644399.1:c.3407_3440delinsTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTG
ENST00000644722.1:n.563_596delinsTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTG
ENST00000645024.1:n.1570_1603delinsTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTG
ENST00000646388.1:c.3417_3450delinsTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTG	ENSP00000495921.1:p.Val1139=
ENST00000646634.1:n.2301_2334delinsTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTG
ENST00000646674.1:n.32_65delinsTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTG
ENST00000647042.1:n.709_742delinsTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTG
ENST00000219476.7:c.3417_3450delinsTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTG	ENSP00000219476.3:p.Val1139=
ENST00000350773.8:c.3417_3450delinsTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTG	ENSP00000344383.4:p.Val1139=
ENST00000382538.10:c.3141_3174delinsTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTG	ENSP00000371978.6:p.Val1047=
ENST00000401874.6:c.3285_3318delinsTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTG	ENSP00000384468.2:p.Val1095=
ENST00000439117.6:c.*2584_*2617delinsTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTG	ENSP00000406980.2:n.*2584_*2617delinsTGGCGCCCTGGACGTGCCGGCCTC...
ENST00000439673.6:c.3177_3210delinsTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTG	ENSP00000399232.2:p.Val1059=
ENST00000497886.5:n.1244_1277delinsTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTG
ENST00000568454.5:c.3318_3351delinsTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTG	ENSP00000454487.1:p.Val1106=
NM_000548.3:c.3417_3450delinsTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTG , LRG_487t1:c.3417_3450delinsTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTG	NP_000539.2:p.Val1139=
NM_001077183.1:c.3285_3318delinsTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTG	NP_001070651.1:p.Val1095=
NM_001114382.1:c.3417_3450delinsTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTG	NP_001107854.1:p.Val1139=
XM_005255529.3:c.3288_3321delinsTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTG	XP_005255586.2:p.Val1096=
XM_005255531.3:c.3288_3321delinsTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTG	XP_005255588.2:p.Val1096=
XM_011522636.1:c.3417_3450delinsTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTG	XP_011520938.1:p.Val1139=
XM_011522637.1:c.3414_3447delinsTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTG	XP_011520939.1:p.Val1138=
XM_011522638.1:c.3306_3339delinsTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTG	XP_011520940.1:p.Val1102=
XM_011522639.1:c.3288_3321delinsTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTG	XP_011520941.1:p.Val1096=
XM_011522640.1:c.3285_3318delinsTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTG	XP_011520942.1:p.Val1095=
XM_011522641.1:c.3177_3210delinsTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTG	XP_011520943.1:p.Val1059=
NM_000548.4:c.3417_3450delinsTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTG	NP_000539.2:p.Val1139=
NM_001077183.2:c.3285_3318delinsTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTG	NP_001070651.1:p.Val1095=
NM_001114382.2:c.3417_3450delinsTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTG	NP_001107854.1:p.Val1139=
NM_001318827.1:c.3177_3210delinsTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTG	NP_001305756.1:p.Val1059=
NM_001318829.1:c.3141_3174delinsTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTG	NP_001305758.1:p.Val1047=
NM_001318831.1:c.2685_2718delinsTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTG	NP_001305760.1:p.Val895=
NM_001318832.1:c.3318_3351delinsTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTG	NP_001305761.1:p.Val1106=
NM_001363528.1:c.3288_3321delinsTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTG	NP_001350457.1:p.Val1096=
NM_021055.2:c.3288_3321delinsTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTG	NP_066399.2:p.Val1096=
XM_005255531.4:c.3288_3321delinsTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTG	XP_005255588.2:p.Val1096=
XM_011522636.2:c.3417_3450delinsTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTG	XP_011520938.1:p.Val1139=
XM_011522637.2:c.3414_3447delinsTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTG	XP_011520939.1:p.Val1138=
XM_011522638.2:c.3579_3612delinsTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTG	XP_011520940.2:p.Val1193=
XM_011522639.2:c.3288_3321delinsTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTG	XP_011520941.1:p.Val1096=
XM_011522640.2:c.3285_3318delinsTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTG	XP_011520942.1:p.Val1095=
XM_017023615.1:c.3414_3447delinsTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTG	XP_016879104.1:p.Val1138=
XM_017023616.1:c.3285_3318delinsTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTG	XP_016879105.1:p.Val1095=
XM_017023617.1:c.3450_3483delinsTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTG	XP_016879106.1:p.Val1150=
XM_017023618.1:c.2073_2106delinsTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTG	XP_016879107.1:p.Val691=
XM_024450413.1:c.3285_3318delinsTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTG	XP_024306181.1:p.Val1095=
NM_000548.5:c.3417_3450delinsTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTG MANE Select	NP_000539.2:p.Val1139=
NM_001370404.1:c.3285_3318delinsTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTG	NP_001357333.1:p.Val1095=
NM_001370405.1:c.3288_3321delinsTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTG	NP_001357334.1:p.Val1096=
NM_001077183.3:c.3285_3318delinsTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTG	NP_001070651.1:p.Val1095=
NM_001114382.3:c.3417_3450delinsTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTG	NP_001107854.1:p.Val1139=
NM_001318827.2:c.3177_3210delinsTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTG	NP_001305756.1:p.Val1059=
NM_001318829.2:c.3141_3174delinsTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTG	NP_001305758.1:p.Val1047=
NM_001318831.2:c.2685_2718delinsTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTG	NP_001305760.1:p.Val895=
NM_001318832.2:c.3318_3351delinsTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTG	NP_001305761.1:p.Val1106=
NM_001363528.2:c.3288_3321delinsTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTG	NP_001350457.1:p.Val1096=
NM_021055.3:c.3288_3321delinsTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTG	NP_066399.2:p.Val1096=