Canonical Allele Identifier: CA2202018413

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2076068_2076069delinsGT , CM000678.2:g.2076068_2076069delinsGT	GRCh38
NC_000016.9:g.2126069_2126070delinsGT , CM000678.1:g.2126069_2126070delinsGT	GRCh37
NC_000016.8:g.2066070_2066071delinsGT	NCBI36
NG_005895.1:g.31763_31764delinsGT , LRG_487:g.31763_31764delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*1187_*1188delinsGT	ENSP00000455997.2:n.*1187_*1188delinsGT
ENST00000642206.2:c.2685_2686delinsGT	ENSP00000495146.2:p.Lys895=
ENST00000642365.2:c.2640_2641delinsGT	ENSP00000495459.2:p.Lys880=
ENST00000644417.2:c.*2077_*2078delinsGT	ENSP00000493912.2:n.*2077_*2078delinsGT
ENST00000646464.2:c.*3694_*3695delinsGT	ENSP00000496610.2:n.*3694_*3695delinsGT
ENST00000219476.9:c.2640_2641delinsGT MANE Select	ENSP00000219476.3:p.Lys880=
ENST00000350773.9:c.2640_2641delinsGT	ENSP00000344383.4:p.Lys880=
ENST00000401874.7:c.2640_2641delinsGT	ENSP00000384468.2:p.Lys880=
ENST00000568454.6:c.2673_2674delinsGT	ENSP00000454487.1:p.Lys891=
ENST00000642365.1:c.1297_1298delinsGT
ENST00000642561.1:c.2640_2641delinsGT	ENSP00000495099.1:p.Lys880=
ENST00000642797.1:c.2640_2641delinsGT	ENSP00000493846.1:p.Lys880=
ENST00000642936.1:c.2640_2641delinsGT	ENSP00000494514.1:p.Lys880=
ENST00000643088.1:c.2640_2641delinsGT	ENSP00000494747.1:p.Lys880=
ENST00000643298.1:c.*2142_*2143delinsGT	ENSP00000494393.1:n.*2142_*2143delinsGT
ENST00000643946.1:c.2640_2641delinsGT	ENSP00000495927.1:p.Lys880=
ENST00000644043.1:c.2640_2641delinsGT	ENSP00000496262.1:p.Lys880=
ENST00000644329.1:c.2640_2641delinsGT	ENSP00000496611.1:p.Lys880=
ENST00000644335.1:c.2640_2641delinsGT	ENSP00000496317.1:p.Lys880=
ENST00000644399.1:c.2633_2634delinsGT
ENST00000645024.1:n.922_923delinsGT
ENST00000646388.1:c.2640_2641delinsGT	ENSP00000495921.1:p.Lys880=
ENST00000646634.1:n.1653_1654delinsGT
ENST00000219476.7:c.2640_2641delinsGT	ENSP00000219476.3:p.Lys880=
ENST00000350773.8:c.2640_2641delinsGT	ENSP00000344383.4:p.Lys880=
ENST00000382538.10:c.2493_2494delinsGT	ENSP00000371978.6:p.Lys831=
ENST00000401874.6:c.2640_2641delinsGT	ENSP00000384468.2:p.Lys880=
ENST00000439117.6:c.*1939_*1940delinsGT	ENSP00000406980.2:n.*1939_*1940delinsGT
ENST00000439673.6:c.2529_2530delinsGT	ENSP00000399232.2:p.Lys843=
ENST00000568454.5:c.2673_2674delinsGT	ENSP00000454487.1:p.Lys891=
NM_000548.3:c.2640_2641delinsGT , LRG_487t1:c.2640_2641delinsGT	NP_000539.2:p.Lys880=
NM_001077183.1:c.2640_2641delinsGT	NP_001070651.1:p.Lys880=
NM_001114382.1:c.2640_2641delinsGT	NP_001107854.1:p.Lys880=
XM_005255529.3:c.2640_2641delinsGT	XP_005255586.2:p.Lys880=
XM_005255531.3:c.2640_2641delinsGT	XP_005255588.2:p.Lys880=
XM_011522636.1:c.2640_2641delinsGT	XP_011520938.1:p.Lys880=
XM_011522637.1:c.2640_2641delinsGT	XP_011520939.1:p.Lys880=
XM_011522638.1:c.2529_2530delinsGT	XP_011520940.1:p.Lys843=
XM_011522639.1:c.2640_2641delinsGT	XP_011520941.1:p.Lys880=
XM_011522640.1:c.2640_2641delinsGT	XP_011520942.1:p.Lys880=
XM_011522641.1:c.2529_2530delinsGT	XP_011520943.1:p.Lys843=
NM_000548.4:c.2640_2641delinsGT	NP_000539.2:p.Lys880=
NM_001077183.2:c.2640_2641delinsGT	NP_001070651.1:p.Lys880=
NM_001114382.2:c.2640_2641delinsGT	NP_001107854.1:p.Lys880=
NM_001318827.1:c.2529_2530delinsGT	NP_001305756.1:p.Lys843=
NM_001318829.1:c.2493_2494delinsGT	NP_001305758.1:p.Lys831=
NM_001318831.1:c.2040_2041delinsGT	NP_001305760.1:p.Lys680=
NM_001318832.1:c.2673_2674delinsGT	NP_001305761.1:p.Lys891=
NM_001363528.1:c.2640_2641delinsGT	NP_001350457.1:p.Lys880=
NM_021055.2:c.2640_2641delinsGT	NP_066399.2:p.Lys880=
XM_005255531.4:c.2640_2641delinsGT	XP_005255588.2:p.Lys880=
XM_011522636.2:c.2640_2641delinsGT	XP_011520938.1:p.Lys880=
XM_011522637.2:c.2640_2641delinsGT	XP_011520939.1:p.Lys880=
XM_011522638.2:c.2802_2803delinsGT	XP_011520940.2:p.Lys934=
XM_011522639.2:c.2640_2641delinsGT	XP_011520941.1:p.Lys880=
XM_011522640.2:c.2640_2641delinsGT	XP_011520942.1:p.Lys880=
XM_017023615.1:c.2640_2641delinsGT	XP_016879104.1:p.Lys880=
XM_017023616.1:c.2640_2641delinsGT	XP_016879105.1:p.Lys880=
XM_017023617.1:c.2802_2803delinsGT	XP_016879106.1:p.Lys934=
XM_017023618.1:c.1296_1297delinsGT	XP_016879107.1:p.Lys432=
XM_024450413.1:c.2640_2641delinsGT	XP_024306181.1:p.Lys880=
NM_000548.5:c.2640_2641delinsGT MANE Select	NP_000539.2:p.Lys880=
NM_001370404.1:c.2640_2641delinsGT	NP_001357333.1:p.Lys880=
NM_001370405.1:c.2640_2641delinsGT	NP_001357334.1:p.Lys880=
NM_001077183.3:c.2640_2641delinsGT	NP_001070651.1:p.Lys880=
NM_001114382.3:c.2640_2641delinsGT	NP_001107854.1:p.Lys880=
NM_001318827.2:c.2529_2530delinsGT	NP_001305756.1:p.Lys843=
NM_001318829.2:c.2493_2494delinsGT	NP_001305758.1:p.Lys831=
NM_001318831.2:c.2040_2041delinsGT	NP_001305760.1:p.Lys680=
NM_001318832.2:c.2673_2674delinsGT	NP_001305761.1:p.Lys891=
NM_001363528.2:c.2640_2641delinsGT	NP_001350457.1:p.Lys880=
NM_021055.3:c.2640_2641delinsGT	NP_066399.2:p.Lys880=