Canonical Allele Identifier: CA2202028837

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2079330_2079331delinsTG , CM000678.2:g.2079330_2079331delinsTG	GRCh38
NC_000016.9:g.2129331_2129332delinsTG , CM000678.1:g.2129331_2129332delinsTG	GRCh37
NC_000016.8:g.2069332_2069333delinsTG	NCBI36
NG_005895.1:g.35025_35026delinsTG , LRG_487:g.35025_35026delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*1604_*1605delinsTG	ENSP00000455997.2:n.*1604_*1605delinsTG
ENST00000642206.2:c.3102_3103delinsTG	ENSP00000495146.2:p.Val1034=
ENST00000642365.2:c.3183_3184delinsTG	ENSP00000495459.2:p.Val1061=
ENST00000644417.2:c.*3635_*3636delinsTG	ENSP00000493912.2:n.*3635_*3636delinsTG
ENST00000646464.2:c.*4108_*4109delinsTG	ENSP00000496610.2:n.*4108_*4109delinsTG
ENST00000219476.9:c.3186_3187delinsTG MANE Select	ENSP00000219476.3:p.Val1062=
ENST00000350773.9:c.3186_3187delinsTG	ENSP00000344383.4:p.Val1062=
ENST00000401874.7:c.3054_3055delinsTG	ENSP00000384468.2:p.Val1018=
ENST00000471143.6:c.414_415delinsTG	ENSP00000458541.2:n.414_415delinsTG
ENST00000568366.6:n.543_544delinsTG
ENST00000568454.6:c.3087_3088delinsTG	ENSP00000454487.1:p.Val1029=
ENST00000642365.1:c.1840_1841delinsTG
ENST00000642561.1:c.3057_3058delinsTG	ENSP00000495099.1:p.Val1019=
ENST00000642797.1:c.3057_3058delinsTG	ENSP00000493846.1:p.Val1019=
ENST00000642936.1:c.3054_3055delinsTG	ENSP00000494514.1:p.Val1018=
ENST00000643088.1:c.3054_3055delinsTG	ENSP00000494747.1:p.Val1018=
ENST00000643946.1:c.3186_3187delinsTG	ENSP00000495927.1:p.Val1062=
ENST00000644043.1:c.3057_3058delinsTG	ENSP00000496262.1:p.Val1019=
ENST00000644329.1:c.3054_3055delinsTG	ENSP00000496611.1:p.Val1018=
ENST00000644335.1:c.3057_3058delinsTG	ENSP00000496317.1:p.Val1019=
ENST00000644399.1:c.3176_3177delinsTG
ENST00000644722.1:n.332_333delinsTG
ENST00000645024.1:n.1339_1340delinsTG
ENST00000646388.1:c.3186_3187delinsTG	ENSP00000495921.1:p.Val1062=
ENST00000646634.1:n.2070_2071delinsTG
ENST00000647042.1:n.478_479delinsTG
ENST00000219476.7:c.3186_3187delinsTG	ENSP00000219476.3:p.Val1062=
ENST00000350773.8:c.3186_3187delinsTG	ENSP00000344383.4:p.Val1062=
ENST00000382538.10:c.2910_2911delinsTG	ENSP00000371978.6:p.Val970=
ENST00000401874.6:c.3054_3055delinsTG	ENSP00000384468.2:p.Val1018=
ENST00000439117.6:c.*2353_*2354delinsTG	ENSP00000406980.2:n.*2353_*2354delinsTG
ENST00000439673.6:c.2946_2947delinsTG	ENSP00000399232.2:p.Val982=
ENST00000471143.5:c.412_413delinsTG
ENST00000483020.5:c.426_427delinsTG	ENSP00000460310.1:n.426_427delinsTG
ENST00000497886.5:n.1013_1014delinsTG
ENST00000561695.1:n.411_412delinsTG
ENST00000568366.5:n.543_544delinsTG
ENST00000568454.5:c.3087_3088delinsTG	ENSP00000454487.1:p.Val1029=
NM_000548.3:c.3186_3187delinsTG , LRG_487t1:c.3186_3187delinsTG	NP_000539.2:p.Val1062=
NM_001077183.1:c.3054_3055delinsTG	NP_001070651.1:p.Val1018=
NM_001114382.1:c.3186_3187delinsTG	NP_001107854.1:p.Val1062=
XM_005255529.3:c.3057_3058delinsTG	XP_005255586.2:p.Val1019=
XM_005255531.3:c.3057_3058delinsTG	XP_005255588.2:p.Val1019=
XM_011522636.1:c.3186_3187delinsTG	XP_011520938.1:p.Val1062=
XM_011522637.1:c.3183_3184delinsTG	XP_011520939.1:p.Val1061=
XM_011522638.1:c.3075_3076delinsTG	XP_011520940.1:p.Val1025=
XM_011522639.1:c.3057_3058delinsTG	XP_011520941.1:p.Val1019=
XM_011522640.1:c.3054_3055delinsTG	XP_011520942.1:p.Val1018=
XM_011522641.1:c.2946_2947delinsTG	XP_011520943.1:p.Val982=
NM_000548.4:c.3186_3187delinsTG	NP_000539.2:p.Val1062=
NM_001077183.2:c.3054_3055delinsTG	NP_001070651.1:p.Val1018=
NM_001114382.2:c.3186_3187delinsTG	NP_001107854.1:p.Val1062=
NM_001318827.1:c.2946_2947delinsTG	NP_001305756.1:p.Val982=
NM_001318829.1:c.2910_2911delinsTG	NP_001305758.1:p.Val970=
NM_001318831.1:c.2454_2455delinsTG	NP_001305760.1:p.Val818=
NM_001318832.1:c.3087_3088delinsTG	NP_001305761.1:p.Val1029=
NM_001363528.1:c.3057_3058delinsTG	NP_001350457.1:p.Val1019=
NM_021055.2:c.3057_3058delinsTG	NP_066399.2:p.Val1019=
XM_005255531.4:c.3057_3058delinsTG	XP_005255588.2:p.Val1019=
XM_011522636.2:c.3186_3187delinsTG	XP_011520938.1:p.Val1062=
XM_011522637.2:c.3183_3184delinsTG	XP_011520939.1:p.Val1061=
XM_011522638.2:c.3348_3349delinsTG	XP_011520940.2:p.Val1116=
XM_011522639.2:c.3057_3058delinsTG	XP_011520941.1:p.Val1019=
XM_011522640.2:c.3054_3055delinsTG	XP_011520942.1:p.Val1018=
XM_017023615.1:c.3183_3184delinsTG	XP_016879104.1:p.Val1061=
XM_017023616.1:c.3054_3055delinsTG	XP_016879105.1:p.Val1018=
XM_017023617.1:c.3219_3220delinsTG	XP_016879106.1:p.Val1073=
XM_017023618.1:c.1842_1843delinsTG	XP_016879107.1:p.Val614=
XM_024450413.1:c.3054_3055delinsTG	XP_024306181.1:p.Val1018=
NM_000548.5:c.3186_3187delinsTG MANE Select	NP_000539.2:p.Val1062=
NM_001370404.1:c.3054_3055delinsTG	NP_001357333.1:p.Val1018=
NM_001370405.1:c.3057_3058delinsTG	NP_001357334.1:p.Val1019=
NM_001077183.3:c.3054_3055delinsTG	NP_001070651.1:p.Val1018=
NM_001114382.3:c.3186_3187delinsTG	NP_001107854.1:p.Val1062=
NM_001318827.2:c.2946_2947delinsTG	NP_001305756.1:p.Val982=
NM_001318829.2:c.2910_2911delinsTG	NP_001305758.1:p.Val970=
NM_001318831.2:c.2454_2455delinsTG	NP_001305760.1:p.Val818=
NM_001318832.2:c.3087_3088delinsTG	NP_001305761.1:p.Val1029=
NM_001363528.2:c.3057_3058delinsTG	NP_001350457.1:p.Val1019=
NM_021055.3:c.3057_3058delinsTG	NP_066399.2:p.Val1019=