Canonical Allele Identifier: CA018359

Gene: TSC2

Linked Data

• ClinVar Variation Id: 49602
• ClinVar RCV Id: RCV000042863
• dbSNP Id: rs137854287
• MyVariant Identifiers: chr16:g.2129043_2129091del (hg19) ; chr16:g.2079042_2079090del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2079042_2079090del , CM000678.2:g.2079042_2079090del	GRCh38
NC_000016.9:g.2129043_2129091del , CM000678.1:g.2129043_2129091del	GRCh37
NC_000016.8:g.2069044_2069092del	NCBI36
NG_005895.1:g.34737_34785del , LRG_487:g.34737_34785del

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*1395_*1443del	ENSP00000455997.2:n.*1395_*1443del
ENST00000642206.2:c.2893_2941del	ENSP00000495146.2:p.Thr965ProfsTer7
ENST00000642365.2:c.2974_3022del	ENSP00000495459.2:p.Thr992ProfsTer7
ENST00000644417.2:c.*3426_*3474del	ENSP00000493912.2:n.*3426_*3474del
ENST00000646464.2:c.*3899_*3947del	ENSP00000496610.2:n.*3899_*3947del
ENST00000219476.9:c.2977_3025del MANE Select	ENSP00000219476.3:p.Thr993ProfsTer7
ENST00000350773.9:c.2977_3025del	ENSP00000344383.4:p.Thr993ProfsTer7
ENST00000401874.7:c.2845_2893del	ENSP00000384468.2:p.Thr949ProfsTer7
ENST00000471143.6:c.205_253del	ENSP00000458541.2:n.205_253del
ENST00000568366.6:n.334_382del
ENST00000568454.6:c.2878_2926del	ENSP00000454487.1:p.Thr960ProfsTer7
ENST00000642365.1:c.1631_1679del
ENST00000642561.1:c.2848_2896del	ENSP00000495099.1:p.Thr950ProfsTer7
ENST00000642797.1:c.2848_2896del	ENSP00000493846.1:p.Thr950ProfsTer7
ENST00000642936.1:c.2845_2893del	ENSP00000494514.1:p.Thr949ProfsTer7
ENST00000643088.1:c.2845_2893del	ENSP00000494747.1:p.Thr949ProfsTer7
ENST00000643946.1:c.2977_3025del	ENSP00000495927.1:p.Thr993ProfsTer7
ENST00000644043.1:c.2848_2896del	ENSP00000496262.1:p.Thr950ProfsTer7
ENST00000644329.1:c.2845_2893del	ENSP00000496611.1:p.Thr949ProfsTer7
ENST00000644335.1:c.2848_2896del	ENSP00000496317.1:p.Thr950ProfsTer7
ENST00000644399.1:c.2967_3015del
ENST00000644722.1:n.123_171del
ENST00000645024.1:n.1130_1178del
ENST00000646388.1:c.2977_3025del	ENSP00000495921.1:p.Thr993ProfsTer7
ENST00000646634.1:n.1861_1909del
ENST00000647042.1:n.269_317del
ENST00000219476.7:c.2977_3025del	ENSP00000219476.3:p.Thr993ProfsTer7
ENST00000350773.8:c.2977_3025del	ENSP00000344383.4:p.Thr993ProfsTer7
ENST00000382538.10:c.2701_2749del	ENSP00000371978.6:p.Thr901ProfsTer7
ENST00000401874.6:c.2845_2893del	ENSP00000384468.2:p.Thr949ProfsTer7
ENST00000439117.6:c.*2144_*2192del	ENSP00000406980.2:n.*2144_*2192del
ENST00000439673.6:c.2737_2785del	ENSP00000399232.2:p.Thr913ProfsTer7
ENST00000471143.5:c.203_251del
ENST00000483020.5:c.217_265del	ENSP00000460310.1:n.217_265del
ENST00000497886.5:n.804_852del
ENST00000561695.1:n.123_171del
ENST00000568366.5:n.334_382del
ENST00000568454.5:c.2878_2926del	ENSP00000454487.1:p.Thr960ProfsTer7
NM_000548.3:c.2977_3025del , LRG_487t1:c.2977_3025del	NP_000539.2:p.Thr993ProfsTer7
NM_001077183.1:c.2845_2893del	NP_001070651.1:p.Thr949ProfsTer7
NM_001114382.1:c.2977_3025del	NP_001107854.1:p.Thr993ProfsTer7
XM_005255529.3:c.2848_2896del	XP_005255586.2:p.Thr950ProfsTer7
XM_005255531.3:c.2848_2896del	XP_005255588.2:p.Thr950ProfsTer7
XM_011522636.1:c.2977_3025del	XP_011520938.1:p.Thr993ProfsTer7
XM_011522637.1:c.2974_3022del	XP_011520939.1:p.Thr992ProfsTer7
XM_011522638.1:c.2866_2914del	XP_011520940.1:p.Thr956ProfsTer7
XM_011522639.1:c.2848_2896del	XP_011520941.1:p.Thr950ProfsTer7
XM_011522640.1:c.2845_2893del	XP_011520942.1:p.Thr949ProfsTer7
XM_011522641.1:c.2737_2785del	XP_011520943.1:p.Thr913ProfsTer7
NM_000548.4:c.2977_3025del	NP_000539.2:p.Thr993ProfsTer7
NM_001077183.2:c.2845_2893del	NP_001070651.1:p.Thr949ProfsTer7
NM_001114382.2:c.2977_3025del	NP_001107854.1:p.Thr993ProfsTer7
NM_001318827.1:c.2737_2785del	NP_001305756.1:p.Thr913ProfsTer7
NM_001318829.1:c.2701_2749del	NP_001305758.1:p.Thr901ProfsTer7
NM_001318831.1:c.2245_2293del	NP_001305760.1:p.Thr749ProfsTer7
NM_001318832.1:c.2878_2926del	NP_001305761.1:p.Thr960ProfsTer7
NM_001363528.1:c.2848_2896del	NP_001350457.1:p.Thr950ProfsTer7
NM_021055.2:c.2848_2896del	NP_066399.2:p.Thr950ProfsTer7
XM_005255531.4:c.2848_2896del	XP_005255588.2:p.Thr950ProfsTer7
XM_011522636.2:c.2977_3025del	XP_011520938.1:p.Thr993ProfsTer7
XM_011522637.2:c.2974_3022del	XP_011520939.1:p.Thr992ProfsTer7
XM_011522638.2:c.3139_3187del	XP_011520940.2:p.Thr1047ProfsTer7
XM_011522639.2:c.2848_2896del	XP_011520941.1:p.Thr950ProfsTer7
XM_011522640.2:c.2845_2893del	XP_011520942.1:p.Thr949ProfsTer7
XM_017023615.1:c.2974_3022del	XP_016879104.1:p.Thr992ProfsTer7
XM_017023616.1:c.2845_2893del	XP_016879105.1:p.Thr949ProfsTer7
XM_017023617.1:c.3010_3058del	XP_016879106.1:p.Thr1004ProfsTer7
XM_017023618.1:c.1633_1681del	XP_016879107.1:p.Thr545ProfsTer7
XM_024450413.1:c.2845_2893del	XP_024306181.1:p.Thr949ProfsTer7
NM_000548.5:c.2977_3025del MANE Select	NP_000539.2:p.Thr993ProfsTer7
NM_001370404.1:c.2845_2893del	NP_001357333.1:p.Thr949ProfsTer7
NM_001370405.1:c.2848_2896del	NP_001357334.1:p.Thr950ProfsTer7
NM_001077183.3:c.2845_2893del	NP_001070651.1:p.Thr949ProfsTer7
NM_001114382.3:c.2977_3025del	NP_001107854.1:p.Thr993ProfsTer7
NM_001318827.2:c.2737_2785del	NP_001305756.1:p.Thr913ProfsTer7
NM_001318829.2:c.2701_2749del	NP_001305758.1:p.Thr901ProfsTer7
NM_001318831.2:c.2245_2293del	NP_001305760.1:p.Thr749ProfsTer7
NM_001318832.2:c.2878_2926del	NP_001305761.1:p.Thr960ProfsTer7
NM_001363528.2:c.2848_2896del	NP_001350457.1:p.Thr950ProfsTer7
NM_021055.3:c.2848_2896del	NP_066399.2:p.Thr950ProfsTer7